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  • 1. Appendix 1: Characteristics of the studies included in the final 61 retrieved papers Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Baider et al. 1999 230 healthy women with at Survey To assess the Brief Symptom Inventory (Israel) least one first-degree relative psychological distress of (BSI) diagnosed with breast cancer a sample of women who Impact of Events Scale (IES) who attended a conference attended a conference organised by the Israel Cancer organised by the Israel Association. Cancer Association. Benkendorf et al. 238 healthy (no personal Survey To describe levels of Knowledge about genetic Attitudes about ethical issues 1997 (USA) history of cancer) first-degree agreement versus testing for inherited cancer in genetic testing relatives of women (18 to 75 disagreement with Life Orientation Test (LOT) years) with breast or ovarian statements reflecting the Monitoring Blunting Style cancer ethical issues of Scale (MBSS) see also Miller autonomy and Behavioural Style Scale confidentiality. To identify the characteristics of these women that correlated with particular attitudes. 1
  • 2. Berkenstadt et al. 165 individuals who completed Before and after To develop a reliable Perceived Personal Control 1999 (Israel) counseling at Institute of measure of perceived (PPC) Human Genetics at Sheba personal control over a Medical Centre excluded genetic problem and marital counseling for investigate its validity for consanguineous couples the assessment of genetic counseling outcomes Biesecker et al. 172 adults (18 years and over) Prospective follow- To identify socio- Center for Epidemiologic 2000 (USA) in families previously enrolled up demographic, Studies Depression-Scale in a familial cancer study with a psychological and family (CES-D) risk-conferring mutation in variables that Family Environment Scale BRCA1/2. characterise members (FES) of hereditary breast and Life Orientation Test (LOT) ovarian cancer families Rosenberg Self-Esteem who are more likely to Scale choose to undergo Spiritual Well-Being Scale predictive testing (SWBS) following pre-test education and 2
  • 3. counselling. Bowen et al. 357 women (18 to 74 years) Randomised trial To test the effects of two Beliefs About Breast Cancer Interest in genetic testing for 2002 (USA) with some familial history of breast cancer risk Genetic Testing breast cancer risk breast cancer (any relative) but counselling methods Modified Tolerance for no family history indicative of (genetic counselling and Ambiguity Scale (TFA) autosomal dominant genetic group counselling) on mutation. interest in pursuing genetic testing in women with a family history of breast cancer Brain et al, 1999 833 women (17 to 77 years) at Randomised trial To clarify the Breast Cancer Worry Scale Breast Self-Examination (UK) risk of breast cancer with a first relationship between Perceived Risk of Breast degree relative diagnosed with anxiety and adherence Cancer breast cancer under 50 years, to breast self- State-Trait Anxiety Inventory a first-degree relative with examination by (STAI) bilateral cancer at any age and comparing the impact of second-degree relative with general anxiety with that breast cancer. of cancer-specific anxiety of breast self- examination frequency. Brain et al, 2000 735 women (17 to 77 years) at Randomised trial To determine the Breast Cancer Worry Scale Knowledge of Familial Breast 3
  • 4. (UK) risk of breast cancer with a first psychological benefits Patient Satisfaction with Cancer degree relative diagnosed with and costs of receiving Genetic Counselling breast cancer under 50 years, genetic assessment. Perceived Risk of Breast a first-degree relative with Cancer bilateral cancer at any age and State-Trait Anxiety Inventory second-degree relative with (STAI) breast cancer. Brain et al, 2005 27 individuals (14 women and Randomised trial To explore the process Decision making process (UK) 12 men) from families in which of extended vs General Health a HNPCC gene mutation had shortened genetic Questionnaire (GHQ) been identified. counselling protocols Knowledge about genetic and compare their testing for inherited cancer impact on psychological (HNPCC) and decision-making Satisfaction with Decision outcomes in individuals Scale (to have testing) eligible for HNPCC predictive testing. Braitman & 126 individuals (40 student Survey To describe two Measure of Counselees’ Antley. 1978 nurses, 16 licensed practical instruments designed to Knowledge of Down (USA) nurses, 46 special education measure, in an objective Syndrome 4
  • 5. teachers, 16 graduate manner, the genetic students, 8 parents of children information counselees with Down syndrome) have before and after counselling Cederholm et al. 94 pregnant women Randomised trial To evaluate women’s Hospital Anxiety and Knowledge of invasive 1999 (Sweden) undergoing amniocentesis or reasons for having an Depression Scale (HADs) procedures Level of anxiety chorionic villus sampling at 10 invasive procedure, their Impact of Event Scale (IES) Satisfaction with information to 13 weeks gestation knowledge, how provided information was obtained, their satisfaction with this information, their concerns about complications and psychological reactions and distress evoked by the procedure. 5. Cella et al. 2002 158 women one-month after Survey To develop a brief, Hopkins Symptom Checklist (USA) receiving genetic test results practical, targeted (HSCL-25) for BRCA1/2 assessment of concerns Impact of Event Scale (IES) and psychosocial issues Multidimensional Impact of 5
  • 6. associated with genetic Cancer Risk Assessment testing for cancer risk (MICRA) and compared it with existing alternatives. Collins et al. 114 individuals who received Before and after To assess screening Impact of Event Scale (IES) Beliefs about prophylactic 2005 (Australia) predictive genetic testing for and preventive surgery Beliefs about HNPCC at one of five familial behaviours during 12 screening cancer clinics. months after predictive Risk perception genetic testing for Screening behaviours HNPCC in an Australian clinical cohort. Decruyenaere et 72 adults (18 years and over) Prospective follow- To identify the socio- Beck Depression Inventory al. 1995 who applied for a predictive up demographic description (BDI) (Belgium) test for Huntington’s Disease of predictive test for Minnesota Multiphasic Huntington’s Disease Personality Inventory (MMPI) applicants, their plus supplementary ego subjective evaluation of strength scale the risk and their Spielberger State Trait motives for requesting Anxiety Inventory (STAI) the predictive test Utrechtse Coping List (UCL) Decruyenaere et 69 individuals with a parent Prospective follow- To gain more insight Beck Depression Inventory 6
  • 7. al. 1999 affected with Huntington’s up into pre-test (BDI) (Belgium) Disease and received a psychological Minnesota Multiphasic predictive test result functioning of people Personality Inventory (MMPI) who applied for plus supplementary ego predictive testing for strength scale Huntington’s Disease Spielberger State Trait Anxiety Inventory (STAI) De Marco et al. 61 women undergoing Survey To conduct a Genetic Counseling 2004 (USA) counselling and testing for psychometric analysis of Satisfaction Scale (GCSS) hereditary breast-ovarian a new satisfaction cancer (BRCA1/2) measure, the Genetic Counseling Satisfaction Scale, with a sample of women participating in a no-cost cancer genetic counselling and testing program Denayer et al, 71 adults (18 years and over) Survey To evaluate whether the Health Orientation Scale 1996 (Belgium) who had their carrier status for CF carrier status has Spielberger State and Trait cystic fibrosis determined any lasting effect on Anxiety (STAI) 7
  • 8. anxiety and on self- Tennessee Self-Concept concept at least one- Scale year after the disclosure of the test-result. Donovan et al, 220 women awaiting routine Survey To knowledge of breast Knowledge about breast Interest in genetic testing 2000 (USA) medical services cancer and cancer cancer Perception of risk genetics and their Knowledge about genetic risk perceptions of genetic for breast cancer testing and personal Perceptions of the Benefits, risk. Limitations and Risks of Genetic Testing Dorval et al, 2000 65 individuals from families Before and after To examine the ability of Brief Symptom Inventory Anticipated and actual (USA) with Li-Fraumeni cancer individuals undergoing (BSI) reaction to genetic test syndromes and hereditary genetic testing for Global Severity Index (GSI) results breast-ovarian cancer cancer susceptibility to of the Symptom- susceptibility. accurately anticipate Checklist-90-Revised emotional reactions to (SCL-90-R) disclosure of their test result. Drake et al. 1999 38 individuals, 21 women of Before and after To develop and Decisional Conflict Scale Acceptability of decision aid 8
  • 9. (Canada) advanced maternal age (35 evaluate a decision aid (DCS) Choice predisposition for years or over) and 17 spouses designed to prepare Modified Maternal Serum prenatal testing patients of advanced Screening Knowledge maternal age for Questionnaire (MSSKQ) counselling about Spielberger State and Trait prenatal diagnostic Anxiety (STAI) testing. Erblich et al. 77 individuals in total: 30 Survey To describe the Breast Cancer Genetic 2005 (USA) women including women who development and Counselling Knowledge had undergone breast cancer validation of a Questionnaire (BCGKQ-27) genetic counselling and 47 questionnaire to Knowledge Scale about hospital employees (26 nurses measure the knowledge Breast Cancer and and 19 administrative staff) of women who undergo Hereditary breast cancer genetic counselling. Fanos et al, 2001 40 adults (37 female and 3 Survey To assess Hopkins Symptoms Checklist Attitudes to genetic testing (USA) brothers) with X-linked severe understanding of the (HSCL) Knowledge of condition combined immunodeficiency. genetics of x-linked Perception of carrier status severe combined immunodeficiency in 9
  • 10. adults from families who had enrolled in our protocols and attended a family workshop. Freyer et al. 1999 77 patients treated for either Survey To perform Hospital Anxiety and (France) sporadic or familial or were at psychometric and Depression Scale (HADS) risk for medullary thyroid quality of life Subjective Quality of Life carcinoma measurements in a Profile (SQLP) population of individuals belonging to medullary- thyroid carcinoma families Fries et al, 2004 57 high-risk patients for Prospective follow- To assess the outcome Brief Symptom Inventory (USA) inherited breast or ovarian up of accelerated patient (BSI) cancer. surveillance in patients Profile of Mood States at high risk for inherited (POMS) breast or ovarian cancer. Furr & Kelly 1999 330 European American adults Survey To develop a uni- Genetic Knowledge Index (USA) (over 18 years) randomly dimensional index of (GKI) 10
  • 11. selected from a US population genetic knowledge Geller et al. 1993 1140 physicians (obstetricians, Survey To develop a modified modified Tolerance for (USA) paediatricians, internists, family tolerance for ambiguity Ambiguity Scale (TFA) practitioners and psychiatrists) scale to elicit physicians’ in USA knowledge and attitudes about genetic testing and determine its psychometric properties. To determine the relationship of the TFA scale with physicians’ demographic characteristics, their training and several behavioural variables including religiosity Grosfeld et al. 47 parents (22 parental Prospective follow- To explore the General (Global) Severity 2000 (The couples and 3 single parents) up psychological reactions Index (GSI) of the Symptom Netherlands) of children (newborn to 14 displayed by parents of Check List-90 (SCL90) years of age) who had a their children’s DNA test Impact of Event Scale (IES) genetic test for the cancer results. Spielberger State Trait 11
  • 12. disorder multiple endocrine Anxiety Inventory (STAI) neoplasia type 2. Gwyn et al, 2003 518 women (50 years of age Survey To examine whether Breast Cancer Worry Awareness of genetic testing (USA) and over) who had undergone women due for routine for breast cancer a screening mammogram 12 to mammography would Interest in genetic testing 14 months before the study but want testing for breast no prior history of breast cancer susceptibility and cancer, abnormal mammogram what factors might or signs of breast cancer. impact on their decision to pursue testing. Hailey et al, 2000 51 women with (26) or without Survey To learn about the Anticipated impact of results Perception of risk (USA) (25) a first-degree relative with impact of having a first- Assessment of benefits and breast cancer. degree relative for risk of breast cancer testing women not involved with Beck Depression Inventory a formal breast cancer (BDI) prevention program. (Breast) Cancer Attitude Inventory (CAI) and Anxiety sub-scale (BCANX) Impact of Event Scales (IES) Harris et al, 75 patients (16 to 38 years) Survey To assess the Spielberger Stait-Trait Feelings about the 1996 (UK) receiving routine antenatal acceptability of Anxiety Inventory (STAI) pregnancy and the baby 12
  • 13. care in a two-partner training integrating cystic fibrosis Knowledge of cystic fibrosis practice offered carrier testing carrier testing into and factors influencing for cystic fibrosis using a antenatal care by decision to have test computer protocol. general practitioners at the first booking appointment. Holloway et al, 374 women referred from Survey To explore women’s Breast Cancer Worry 2004 (UK) participating general practices expectations of cancer General Health to the regional genetics genetic services and the Questionnaire (GHQ) department for breast cancer results of a trial Medical Interview genetic risk counselling. No assessing women’s Satisfaction Scale (MISS) symptoms or diagnosis of satisfaction with a new breast or ovarian cancer model of service delivery. Hurt et al. 2001 17 first-degree relatives (18 Survey To measure Center for Epidemiological Family history form (USA) years and over) of women psychological distress Studies Depression Scale Personal history form diagnosed with breast cancer and the feasibility of a (CES-D) psychological Impact of Events Scale (IES) intervention to reduce Miller Behavioral Style Scale distress in patients (MBBS) see also Monitoring undergoing risk Blunting Behavioural Style 13
  • 14. assessment. Scale Profile of Mood States (POMS) brief form Katapodi et al. 42 studies (64,276 Systematic review To synthesise research Instruments for perceived risk (validated and non-validated) 2004 (USA) participants) and meta-analysis findings of studies on perceived breast cancer risk. The study examined demographic, psychological, and physiological variables as predictors of perceived breast cancer risk and the relationship between perceived breast cancer risk and breast cancer prevention and early detection. Keller et al, 2002 65 individuals with colorectal Survey To explore distress and Breast Cancer Worry Ability to cope (Germany) cancer (35) and unaffected but health beliefs before (modified for colorectal) Attitudes to genetic testing at-risk (30) who participated in and after Giessener Complaints Evaluation of counselling 14
  • 15. interdisciplinary counselling comprehensive Inventory (GBB) Health beliefs provided by human geneticists, interdisciplinary Hospital Anxiety and Perception of control surgeons and psycho- counselling in families at Depression Scale (HADS) Threat of HNPCC oncologists before genetic risk for HNPCC. Impact of Events Scale (IES) Vulnerability testing. Medical Outcomes Survey Short-Form-12 Kent et al. 2000 69 asymptomatic women Survey To assess changes in Hospital Anxiety and Perceived risk Thought (UK) referred to a breast cancer perceived risk, cognitive Depression Scale (HADS) content and intrusiveness of family history clinic. intrusions and distress Psychological Consequences the thoughts in women undergoing Questionnaire (PCQ) counselling for familial risk of developing breast cancer. Kromberg et al, 89 individuals (30 at-risk for Intervention To investigate the Beck Depression Inventory 1999 (South predictive testing; 7 for utilisation and sequelae (BDI) Africa) prenatal testing and 52 for of the predictive, Life Coping Skills diagnostic testing) prenatal and diagnostic services offered to families with suspected Huntington’s disease. 15
  • 16. Lodder et al, 28 men requesting Survey To analyse distress in Hospital Anxiety and 2001 (The BRCA1/BRCA2 testing and males at risk of carrying Depression Scale (HADS) Netherlands) their partners. a BRCA1/BRCA2 Impact of Event Scale (IES) mutation. Life Orientation Test (LOT) Symptom Checklist-90 (SCL-90) Ludman et al. 91 women awaiting medical Survey To assess female Knowledge about genetic Beliefs about access to 1999 (USA) appointments at a primary care primary care patients’ testing for inherited cancer BRCA1 testing Intention to clinic. knowledge about breast (Inherited Breast Cancer and be tested cancer genetics and BRCA1 Testing) attitudes toward genetic testing. Matthews et al. 102 patients attending a clinic Survey To assess general Breast Cancer Worry Cancer Risk Assessment 2002 (USA) (visits with both genetic and psychological distress Center for Epidemiological Program Evaluation psychological counsellors) at a among high-risk patients Studies Depression Scale Global Emotional Functioning cancer risk program undergoing brief form (CES-D) Health status predisposition Impact of Events Scale (IES) counselling and/or testing for inherited cancers in a cancer risk clinic. To identify the 16
  • 17. outcome of the pilot program. To identify factors associated with increased acceptance of psychological services. Meiser et al, 333 women waiting initial Survey To assess intention to General Health Accuracy of breast cancer 2000 (Australia) appointments for risk undergo prophylactic Questionnaire (GHQ) risk perception assessment, advice about bilateral mastectomy Impact of Event Scale (IES) Intention to undergo surveillance, and prophylactic and psychologic prophylactic mastectomy options at one of 14 familial determinants in cancer clinicians unaffected women at increased risk of developing hereditary breast cancer. Meiser & 12 studies. Total number of Systematic review To synthesise the General Health Accuracy of perceived risk of Halliday. 2002 participants not known. and meta-analysis published empirical Questionnaire-12 (GHQ12) developing cancer (Australia) literature of prospective General Health and randomised Questionnaire-30 (GHQ30) controlled trials that Profile of Mood State include at least one of (POMS) the following outcomes Spielberger State Trait 17
  • 18. as variables: Anxiety Index-State (STAI- Psychological distress State) (Generalised anxiety; Depression; Breast cancer Anxiety); Accuracy of perceived risk of developing cancer; Breast cancer genetics knowledge; Breast cancer screening uptake Michie et al. 35 patients attending a Prospective follow- To determine the validity Spielberger State Trait Counsellor-defined important 1997a (UK) regional genetics centre up of using genetic Anxiety Inventory-State information excluding those attending for a counsellors reports of (STAI-State) Patient-defined important pre-determined package of information given in information counselling, those who had genetic consultations as Patients hopes and concerns previously visited the centre, the basis for a measure Patient recall of information non-English speakers and of patient recall. patients without a telephone Michie et al. 32 patients referred to a Survey To categorise the key Spielberger State Trait Knowledge questionnaire 1997b (UK) regional genetics centre points given in genetic Anxiety Inventory-State Meeting of expectations 18
  • 19. counselling, assess the (STAI-State) Satisfaction with information amount and type of information recalled, and examine the relationship between counsellees‘ knowledge, satisfaction with information received, the meeting of expectations, concern and anxiety. To measure how much and what types of information given during a genetic counselling session are recalled and whether this is influenced by receiving a summary letter. Miller et al, 2005 279 women (18 years and Intervention To evaluate whether an Knowledge Scale about Intention to obtain genetic (Greece) over) who telephoned a region educational intervention Breast (and Ovarian) Cancer testing Perceived risk 19
  • 20. cancer information service would (a) for average and Hereditary Satisfaction with service expressing concerns about risk women increase Monitoring-Blunting Style their risks for breast or ovarian knowledge and Scale (MBSS) cancer decrease risk perceptions and intentions to obtain genetic testing (b) for high risk women increase their intention to obtain genetic testing, greater risk-related knowledge and greater risk perceptions. Peters et al, 2000 31 parents caring for children Survey To describe the Beck Depression Inventory Parental confidence in the with Proteus syndrome depression status in (BDI) diagnosis of Proteus parents of individuals syndrome with Proteus syndrome Pieterse et al, 200 individuals (18 years or Survey To describe the Impact of Events Scale (IES) 2005 (The older) referred to a department construction and Quality of Care Through the Netherlands) of medical genetics for psychometric properties Patients’ Eyes (QUOTE)- hereditary cancer. of the QUOTE-geneCA, a geneCA 20
  • 21. counselee-centred State-Trait Anxiety Inventory instrument intended to (STAI) measure the needs and Threatening Medical preferences in genetic Situation Inventory (TMSI) counselling for see also Monitoring-Blunting hereditary cancer. Style Scale (MBSS) Read et al, 2005 323 individuals affected by Survey To develop and Psychological Adaptation to (USA) genetic diseases psychometrically Genetic Information Scale evaluate the (PAGIS) Psychological Adaptation to Genetic Information Scale (PAGIS) Ritvo et al, 2000 60 women given familial Survey To report the Center for Epidemiological (Canada) genetic evaluations for ovarian psychological responses Studies Depression Scale cancer risk at their first of women given familial (CES-D) appointment. genetic evaluations for Life Orientation Test (LOT) ovarian cancer risk Medical Outcomes Study Social Support Scale (MOSS) 21
  • 22. State-Trait Anxiety Inventory (STAI) Rose et al. 1999 122 patients (between 20 and Survey To evaluate the Spielberger State-Trait Knowledge questionnaire (UK) 34 years) registered at one feasibility and Anxiety Inventory (STAI) Patient views on reasons for family practice acceptability of taking attendance, awareness and routine family histories understanding and and subsequent genetic acceptability of service to counselling patients Schwartz et al, 289 high-risk women (25 years Prospective follow- To prospectively Breast (and ovarian) Cancer Perceived risk 2003 (USA) of age and over) who had up examine the impact of Worry genetic counselling and testing BRCA1/2 testing on the Hopkins Symptom Checklist for alterations in the BRCA1/2 use of prophylactic (HSL) genes oopherectomy and Impact of Events Scale (IES) ovarian cancer State Anxiety Inventory screening (STAI) Schwartz et al. 194 newly diagnosed patients Survey To evaluate the impact Functional Assessment of Patient reports of 2004 (USA) with breast cancer who had not on surgical decision- Cancer Therapy (FACT) recommendation for: genetic yet received definitive surgical making of pre-treatment Impact of Event Scale (IES) testing and surgery treatment and who had at least genetic counselling and Spielberger State-Trait Treatment decisions a 10% prior probability of BRCA1/2 testing among Inventory-State (STAI-State) carrying a BRAC1/2 mutation. breast cancer patients 22
  • 23. at high risk for carrying a mutation. Schwartz et al, 211 patients newly diagnosed Survey To evaluate factors Functional Assessment of 2005 (USA) with breast cancer who had not associated with the Cancer Therapy-General yet received definitive local decision to undergo (FACT) breast cancer treatment and BRCA1/2 gene testing Impact of Events Scale (IES) who had a family history at the time of initial State Anxiety Scale of the consistent with hereditary breast cancer diagnosis. State Trait Anxiety Inventory breast cancer. (STAI) Skirton et al. 97 clients (18 years and over) Survey To use clients’ accounts Audit Tool for Genetic 2005 (UK) of a genetic service in Wales and factor analysis to Services with any type of genetic develop a robust condition or concern assessment and audit tool related to outcomes of genetic services. Stalmeier et al. 51 healthy women who had Before and after To evaluate the shared Breast cancer (hereditary) 1999 (The family histories of breast decision making concern Netherlands) cancer referred for breast program for women Desire to participate in the cancer risk counselling and suspected to have a shared decision making screening. genetic predisposition to program breast cancer in terms Emotional reaction to the 23
  • 24. of practicality, beneficial program information Intention effects and patient to act upon shared decision satisfaction. making program Risk comprehension and subjective knowledge of women in the shared decision making program Satisfaction with shared decision making program Shared decision making program rationale acceptability 32. Stalmeier et al. 368 patients at high risk for Survey To investigate which Center for Epidemiologic Attitudes to genetic testing 2005 (The breast and ovarian cancer, psychological factors Studies Depression-Scale and the impact of the results Netherlands) awaiting a genetic test result, play a role when (CES-D) on their lives and facing the choice between patients evaluate their Decision Evaluation Scales: Treatment choice; strength of prophylactic surgery or medical treatment Decision Control Scale; treatment preference and screening. choices. Satisfaction-Uncertainty strength of preference of the Scale and Informed Choice specialist; partner Scale agreement; subjective Impact of Event Scale (IES) knowledge; amount of 24
  • 25. State Trait Anxiety (STAI) information; satisfaction with quality of information; negative emotional reaction to information; need for support/advice 33. Steinbart et al. 11 people at risk for familial Survey To assess the effects of Hospital Anxiety and 2001 (USA) Alzheimer disease and DNA testing for early- Depression Scale (HADS) frontotemporal dementia who onset familial Alzheimer Impact of Event Scale (IES) requested genetic testing after disease and an invite letter frontotemporal dementia 34. Trask et al. 2001 205 women referred to the Before and after To develop and validate Medical Outcomes Short- (USA) breast and ovarian risk a measure designed to Form Survey (SF-36) evaluation program because determine whether Profile of Mood States they have a family history of patients attending a (POMS) breast or ovarian cancer in one newly-founded breast Worry Interference Scale or more close relatives or other and ovarian cancer risk (WIS) risk factors leading to a evaluation clinic presumed increase risk profile perceived their cancer- specific thoughts as interfering with their functioning in a number 25
  • 26. of areas. van Oostrum et 65 (of these 51 also Survey To explore long-term Breast Cancer Worry – five Risk and test perceptions al. 2003 (The interviewed) unaffected women psychosocial items only Netherlands) with a 25 to 50% risk of consequences of Body Image/Sexuality Scale carrying a BRCA1/2 mutation carrying a BRCA1/2 (BISS) applying for genetic mutation and to identify Hospital Anxiety and predisposition testing in a possible risk factors for Depression Scales (HADS) Family Cancer Clinic long-term psychological Impact of Events Scale (IES) distress Openness to Discuss Cancer in the Family Scale - adapted Vadaparampil et 19 studies and 2517 Systematic review To review the Breast Cancer Worry Scale al. 2005 participants instruments most Brief Symptom Inventory (USA) commonly used to (BSI) measure depression, Centers for Epidemiologic anxiety and distress and Studies and Depression summarise the reported Scale (CES-D) psychometric properties General Health to assess the Questionnaire (GHQ) psychological factors Hospital Anxiety and measured among Depression Scales (HADS) 26
  • 27. individuals at increased Hopkins Symptoms risk for hereditary Checklist-25 (HSCL-25) breast, ovarian or colon Impact of Event Scale (IES) cancer. Profile of Mood State – short form State-Trait Anxiety Inventory (STAI) Wagner et al. 90 people from families in Survey To evaluate the effect Self-rating Depression Scale Attitude of mutation carriers 2000 (USA) which BRCA1 or BRCA2 was that an awareness of (SDS) towards the option of detected previously. being a BRCA1 or prophylactic mastectomy and BRCA2 mutation carrier or oopherectomy has on the attitude towards prophylactic surgery and on developing depression symptoms. Watson et al. 293 women attending four Survey To investigate the Cancer Anxiety and Expectations of service 2005 (UK) genetic clinics impact of genetic Helplessness Scale Perception of risk counselling on (Breast) Cancer Worry Scale management of breast General Health cancer risk in women Questionnaire-12 item 27
  • 28. attending Cancer Family (GHQ-12) Clinics. Impact of Event Scale (IES) Perceived barriers to mammography Health Beliefs Model (screening and breast cancer) Spielberger State-Trait Anxiety Inventory (STAI) Wolraich et al. 121 participants: 101 patients Case-control To determine the Medical Communication Patient knowledge of genetic 1986 (USA) (parents of children with properties of an Behaviour System (MCBS) condition survey disorders, children with observation system that Medical Interview disorders, relatives concerned was designed to be Satisfaction Scale- modified about having children similarly used in assessing (MISS) affected, persons belonging to situations involving Roter Interactional Analysis at risk ethnic groups, women of multiple health-care System (process not advanced parental age) providers and family outcome measure) evaluated by a genetic units, in which the care counseling service and 20 providers are dealing unobserved ‘control’ patients. with potentially stressful information. 28
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  • 31. Erblich J, Brown K, Kim Y, Valdimarsdottir HB, Livingston BE, Bovbjerg DH. Development and validation of a Breast Cancer Genetic Counseling Knowledge Questionnaire. Patient Education and Counselling 2005;56:182-91. Fanos JH, Davis J, Puck JM. Sib understanding of genetics and attitudes toward carrier testing for X-linked severe combined immunodeficiency. American Journal of Medical Genetics 2001;98:46-56. Freyer G, Dazord A, Schlumberger M, Conte-Devolx B, Ligneau B, Trillet-Lenoir V et al. Psychosocial impact of genetic testing in familial medullary-thyroid carcinoma: a multicentric pilot-evaluation. Annals of Oncology 1999;10:87-95. Fries MH, Hailey BJ, Flanagan J, Licklider D. Outcome of five years of accelerated surveillance in patients at high risk for inherited breast/ovarian cancer: report of a phase II trial. Military Medicine 2004;169:411-6. Furr LA, Kelly SE. The genetic knowledge index: Developing a standard measure of genetic knowledge. Genetic Testing 1999;3:193-9. Geller G, Tambor ES, Chase GA, Holtzman NA. Measuring physicians' tolerance for ambiguity and its relationship to their reported practices regarding genetic testing. Medical Care 1993;31:989-1001. Grosfeld FJ, Beemer FA, Lips CJ, Hendriks KS, Ten Kroode HF. Parents' responses to disclosure of genetic test results of their children. American Journal of Medical Genetics 2000;94:316-23. Gwyn K, Vernon SW, Conoley PM. Intention to pursue genetic testing for breast cancer among women due for screening mammography. Cancer Epidemiology, Biomarkers & Prevention 2003;12:96-102. Hailey BJ, Carter CL, Burnett DR. Breast cancer attitudes, knowledge, and screening behaviour in women with and without a family history of breast cancer. Health Care Women International 2000;21:701-15. Harris H, Scotcher D, Hartley N, Wallace A, Craufurd D, Harris R. Pilot study of the acceptability of cystic fibrosis carrier testing during routine antenatal consultations in general practice. British Journal of General Practice 1996;46:225-7. Holloway S, Porteous M, Cetnarskyj R, Anderson E, Rush R, Fry A, et al. Patient satisfaction with two different models of cancer genetic services in south-east Scotland. British Journal of Cancer 2004;90:582-9. 31
  • 32. Hurt GJ, McQuellon RP, Michielutte R, Conrad DM, Carter S, Anderson H. Risk assessment of first-degree relatives of women with breast cancer: a feasibility study. Oncology nursing forum 2001;28:1097-104. Katapodi MC, Lee KA, Facione NC, Dodd MJ. Predictors of perceived breast cancer risk and the relation between perceived risk and breast cancer screening: a meta-analytic review. Preventative Medicine 2004;3:388-402. Keller M, Jost R, Haunstetter CM, Kienle P, Knaebel HP, Gebert J, et al. Comprehensive genetic counselling for families at risk for HNPCC: impact on distress and perceptions. Genetic Testing 2002;6:291-302. Kent G, Howie H, Fletcher M, Newbury-Ecob R, Hosie K. The relationship between perceived risk, thought intrusiveness and emotional well-being in women receiving counselling for breast cancer risk in a family history clinic. British Journal of health Psychology 2000;5:15-26. Kromberg JG, Krause A, Spurdle AB, Temlett JA, Lucas M, Rodseth D, et al. Utilisation of predictive, prenatal and diagnostic testing for Huntington's disease in Johannesburg. South African Medical Journal - Suid-Afrikaanse Tydskrif Vir Geneeskund 1999;89:774-8. Lodder L, Frets PG, Trijsburg RW, Tibben A, Meijers-Heijboer EJ, Duivenvoorden HJ, et al. Men at risk of being a mutation carrier for hereditary breast/ovarian cancer: an exploration of attitudes and psychological functioning during genetic testing. European Journal of Human Genetics 2002;9:492-500. Ludman EJ, Curry SJ, Hoffman E, Taplin S. Women's knowledge and attitudes about genetic testing for breast cancer susceptibility. Effective Clinical Practice 1999;2(4):158-62. Matthews AK, Brandenburg DL, Cummings S, Olopade OI. Incorporating a psychological counsellor in a cancer risk assessment program: Necessity, acceptability, and potential roles. Journal of Genetic Counselling 2002;11:51-64. Meiser B, Butow P, Friedlander M, Schnieden V, Gattas M, Kirk J, et al. Intention to undergo prophylactic bilateral mastectomy in women at increased risk of developing hereditary breast cancer. Journal of Clinical Oncology 2000;18:2250-7. Meiser B, Halliday JL. What is the impact of genetic counselling in women at increased risk of developing hereditary breast cancer? A meta-analytic review. Social Science & Medicine 2002;54:1463-70. 32
  • 33. Michie S, French S, Allanson A, Bobrow M, Marteau TM. Information recall in genetic counselling: a pilot study of its assessment. Patient Education & Counselling 1997a;32:93-100. Michie S, McDonald V, Marteau TM. Genetic counselling: information given, recall and satisfaction. Patient Education & Counselling 1997b;32:101-6. Miller SM, Fleisher L, Roussi P, Buzaglo JS, Schnoll R, Slater E, et al. Facilitating informed decision making about breast cancer risk and genetic counselling among women calling the NCI's Cancer Information Service. Journal of Health Communication 2005;10:119-36. Peters KF, Biesecker LG. An opportunity for genetic counselling intervention: Depression in parents of individuals with Proteus syndrome. Journal of Genetic Counselling 2000;9:161-71. Pieterse A, van Dulmen S, Ausems M, Schoemaker A, Beemer F, Bensing J. QUOTE-gene(ca): development of a counselee-centred instrument to measure needs and preferences in genetic counselling for hereditary cancer. Psychooncology 2005;14:361-75. Read CY, Perry DJ, Duffy ME. Design and psychometric evaluation of the Psychological Adaptation to Genetic Information Scale. Journal of Nursing Scholarship 2005;37:203-8. Ritvo P, Robinson G, Irvine J, Brown L, Matthew A, Murphy KJ, et al. Psychological adjustment to familial genetic risk assessment: differences in two longitudinal samples. Patient Education & Counselling 2000;40:163-72. Rose P, Humm E, Hey K, Jones L, Huson SM. Family history taking and genetic counselling in primary care. Family Practice 1999;16:78-83. Schwartz MD, Kaufman E, Peshkin BN, Isaacs C, Hughes C, DeMarco T, et al. Bilateral prophylactic oophorectomy and ovarian cancer screening following BRCA1/ BRCA2 mutation testing. Journal of Clinical Oncology 2003;21:4034-41. Schwartz MD, Lerman C, Brogan B, Peshkin BN, Halbert CH, DeMarco T, et al. Impact of BRCA1/BRCA2 counselling and testing on newly diagnosed breast cancer patients. Journal of Clinical Oncology 2004;22:1823-9. Schwartz MD, Lerman C, Brogan B, Peshkin BN, Isaacs C, DeMarco T et al. Utilization of BRCA1/BRCA2 mutation testing in newly diagnosed breast cancer patients. Cancer Epidemiology Biomarkers & Prevention 2005;14:1003-7. Skirton H, Parsons E, Ewings P. Development of an audit tool for genetic services. American Journal of Medical Genetics 2005;136A:122-7. 33
  • 34. Stalmeier PF, Unic IJ, Verhoef LC, van Daal WA. Evaluation of a shared decision making program for women suspected to have a genetic predisposition to breast cancer: preliminary results. Medical Decision Making 1999;19:230-41. Stalmeier PF, Roosmalen MS, Verhoef LC, Hoekstra-Weebers JE, Oosterwijk JC, Moog U, et al. The decision evaluation scales. Patient Education & Counselling 2005;57:286-93. Steinbart EJ, Smith CO, Poorkaj P, Bird TD. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Archives of Neurology 2001;58:1828-31. Trask P, Paterson AG, Wang C, Hayasaka H, Milliron K, Blumberg L, et al. Cancer-specific worry interference in women attending a breast and ovarian cancer risk evaluation program: Impact on emotional distress and health functioning. Psychooncology 2001;10:349-60. Van OI, Meijers-Heijboer H, Lodder LN, Duivenvoorden HJ, van Gool AR, Seynaeve C, et al. Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. Journal of Clinical Oncology 2003;21:3867-74. Vadaparampil ST, Ropka M, Stefanek ME. Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers. Familial Cancer 2005;4:195-206. Wagner TM, Moslinger R, Langbauer G, Ahner R, Fleischmann E, Auterith A, et al. Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group. British Journal of Cancer 2000;82:1249-53. Watson M, Kash KM, Homewood J, Ebbs S, Murday V, Eeles R. Does genetic counselling have any impact on management of breast cancer risk? Genetic Testing 2005;9(2):167-174. Wolraich ML, Albanese M, Stone G, Nesbitt D, Thomson E, Shymansky J, Bartley J, Hanson J. Medical Communication Behaviour System. An interactional analysis system for medical interactions. Medical Care 1985;24:891-903. Appendix 2: Characteristics of the studies included in the final 61 retrieved papers 34
  • 35. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Baider et al. 1999 230 healthy women with at Survey To assess the Brief Symptom Inventory (Israel) least one first-degree relative psychological distress of (BSI) diagnosed with breast cancer a sample of women who Impact of Events Scale (IES) who attended a conference attended a conference organised by the Israel Cancer organised by the Israel Association. Cancer Association. Benkendorf et al. 238 healthy (no personal Survey To describe levels of Knowledge about genetic Attitudes about ethical issues 1997 (USA) history of cancer) first-degree agreement versus testing for inherited cancer in genetic testing relatives of women (18 to 75 disagreement with Life Orientation Test (LOT) years) with breast or ovarian statements reflecting the Monitoring Blunting Style cancer ethical issues of Scale (MBSS) see also Miller autonomy and Behavioural Style Scale confidentiality. To identify the characteristics of these women that correlated with particular attitudes. 35
  • 36. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Berkenstadt et al. 165 individuals who completed Before and after To develop a reliable Perceived Personal Control 1999 (Israel) counseling at Institute of measure of perceived (PPC) Human Genetics at Sheba personal control over a Medical Centre excluded genetic problem and marital counseling for investigate its validity for consanguineous couples the assessment of genetic counseling outcomes Biesecker et al. 172 adults (18 years and over) Prospective follow- To identify socio- Center for Epidemiologic 2000 (USA) in families previously enrolled up demographic, Studies Depression-Scale in a familial cancer study with a psychological and family (CES-D) risk-conferring mutation in variables that Family Environment Scale BRCA1/2. characterise members (FES) of hereditary breast and Life Orientation Test (LOT) ovarian cancer families Rosenberg Self-Esteem who are more likely to Scale choose to undergo Spiritual Well-Being Scale predictive testing (SWBS) following pre-test 36
  • 37. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure education and counselling. Bowen et al. 357 women (18 to 74 years) Randomised trial To test the effects of two Beliefs About Breast Cancer Interest in genetic testing for 2002 (USA) with some familial history of breast cancer risk Genetic Testing breast cancer risk breast cancer (any relative) but counselling methods Modified Tolerance for no family history indicative of (genetic counselling and Ambiguity Scale (TFA) autosomal dominant genetic group counselling) on mutation. interest in pursuing genetic testing in women with a family history of breast cancer Brain et al, 1999 833 women (17 to 77 years) at Randomised trial To clarify the Breast Cancer Worry Scale Breast Self-Examination (UK) risk of breast cancer with a first relationship between Perceived Risk of Breast degree relative diagnosed with anxiety and adherence Cancer breast cancer under 50 years, to breast self- State-Trait Anxiety Inventory a first-degree relative with examination by (STAI) bilateral cancer at any age and comparing the impact of second-degree relative with general anxiety with that breast cancer. of cancer-specific 37
  • 38. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure anxiety of breast self- examination frequency. Brain et al, 2000 735 women (17 to 77 years) at Randomised trial To determine the Breast Cancer Worry Scale Knowledge of Familial Breast (UK) risk of breast cancer with a first psychological benefits Patient Satisfaction with Cancer degree relative diagnosed with and costs of receiving Genetic Counselling breast cancer under 50 years, genetic assessment. Perceived Risk of Breast a first-degree relative with Cancer bilateral cancer at any age and State-Trait Anxiety Inventory second-degree relative with (STAI) breast cancer. Brain et al, 2005 27 individuals (14 women and Randomised trial To explore the process Decision making process (UK) 12 men) from families in which of extended vs General Health a HNPCC gene mutation had shortened genetic Questionnaire (GHQ) been identified. counselling protocols Knowledge about genetic and compare their testing for inherited cancer impact on psychological (HNPCC) and decision-making Satisfaction with Decision outcomes in individuals Scale (to have testing) eligible for HNPCC 38
  • 39. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure predictive testing. Braitman & 126 individuals (40 student Survey To describe two Measure of Counselees’ Antley. 1978 nurses, 16 licensed practical instruments designed to Knowledge of Down (USA) nurses, 46 special education measure, in an objective Syndrome teachers, 16 graduate manner, the genetic students, 8 parents of children information counselees with Down syndrome) have before and after counselling Cederholm et al. 94 pregnant women Randomised trial To evaluate women’s Hospital Anxiety and Knowledge of invasive 1999 (Sweden) undergoing amniocentesis or reasons for having an Depression Scale (HADs) procedures Level of anxiety chorionic villus sampling at 10 invasive procedure, their Impact of Event Scale (IES) Satisfaction with information to 13 weeks gestation knowledge, how provided information was obtained, their satisfaction with this information, their concerns about complications and psychological reactions 39
  • 40. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure and distress evoked by the procedure. 6. Cella et al. 2002 158 women one-month after Survey To develop a brief, Hopkins Symptom Checklist (USA) receiving genetic test results practical, targeted (HSCL-25) for BRCA1/2 assessment of concerns Impact of Event Scale (IES) and psychosocial issues Multidimensional Impact of associated with genetic Cancer Risk Assessment testing for cancer risk (MICRA) and compared it with existing alternatives. Collins et al. 114 individuals who received Before and after To assess screening Impact of Event Scale (IES) Beliefs about prophylactic 2005 (Australia) predictive genetic testing for and preventive surgery Beliefs about HNPCC at one of five familial behaviours during 12 screening cancer clinics. months after predictive Risk perception genetic testing for Screening behaviours HNPCC in an Australian clinical cohort. Decruyenaere et 72 adults (18 years and over) Prospective follow- To identify the socio- Beck Depression Inventory al. 1995 who applied for a predictive demographic description (BDI) 40
  • 41. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure (Belgium) test for Huntington’s Disease up of predictive test for Minnesota Multiphasic Huntington’s Disease Personality Inventory (MMPI) applicants, their plus supplementary ego subjective evaluation of strength scale the risk and their Spielberger State Trait motives for requesting Anxiety Inventory (STAI) the predictive test Utrechtse Coping List (UCL) Decruyenaere et 69 individuals with a parent Prospective follow- To gain more insight Beck Depression Inventory al. 1999 affected with Huntington’s up into pre-test (BDI) (Belgium) Disease and received a psychological Minnesota Multiphasic predictive test result functioning of people Personality Inventory (MMPI) who applied for plus supplementary ego predictive testing for strength scale Huntington’s Disease Spielberger State Trait Anxiety Inventory (STAI) De Marco et al. 61 women undergoing Survey To conduct a Genetic Counseling 2004 (USA) counselling and testing for psychometric analysis of Satisfaction Scale (GCSS) hereditary breast-ovarian a new satisfaction cancer (BRCA1/2) measure, the Genetic 41
  • 42. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Counseling Satisfaction Scale, with a sample of women participating in a no-cost cancer genetic counselling and testing program Denayer et al, 71 adults (18 years and over) Survey To evaluate whether the Health Orientation Scale 1996 (Belgium) who had their carrier status for CF carrier status has Spielberger State and Trait cystic fibrosis determined any lasting effect on Anxiety (STAI) anxiety and on self- Tennessee Self-Concept concept at least one- Scale year after the disclosure of the test-result. Donovan et al, 220 women awaiting routine Survey To knowledge of breast Knowledge about breast Interest in genetic testing 2000 (USA) medical services cancer and cancer cancer Perception of risk genetics and their Knowledge about genetic risk perceptions of genetic for breast cancer testing and personal Perceptions of the Benefits, risk. Limitations and Risks of 42
  • 43. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Genetic Testing Dorval et al, 2000 65 individuals from families Before and after To examine the ability of Brief Symptom Inventory Anticipated and actual (USA) with Li-Fraumeni cancer individuals undergoing (BSI) reaction to genetic test syndromes and hereditary genetic testing for Global Severity Index (GSI) results breast-ovarian cancer cancer susceptibility to of the Symptom- susceptibility. accurately anticipate Checklist-90-Revised emotional reactions to (SCL-90-R) disclosure of their test result. Drake et al. 1999 38 individuals, 21 women of Before and after To develop and Decisional Conflict Scale Acceptability of decision aid (Canada) advanced maternal age (35 evaluate a decision aid (DCS) Choice predisposition for years or over) and 17 spouses designed to prepare Modified Maternal Serum prenatal testing patients of advanced Screening Knowledge maternal age for Questionnaire (MSSKQ) counselling about Spielberger State and Trait prenatal diagnostic Anxiety (STAI) testing. Erblich et al. 77 individuals in total: 30 Survey To describe the Breast Cancer Genetic 2005 (USA) women including women who development and Counselling Knowledge 43
  • 44. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure had undergone breast cancer validation of a Questionnaire (BCGKQ-27) genetic counselling and 47 questionnaire to Knowledge Scale about hospital employees (26 nurses measure the knowledge Breast Cancer and and 19 administrative staff) of women who undergo Hereditary breast cancer genetic counselling. Fanos et al, 2001 40 adults (37 female and 3 Survey To assess Hopkins Symptoms Checklist Attitudes to genetic testing (USA) brothers) with X-linked severe understanding of the (HSCL) Knowledge of condition combined immunodeficiency. genetics of x-linked Perception of carrier status severe combined immunodeficiency in adults from families who had enrolled in our protocols and attended a family workshop. Freyer et al. 1999 77 patients treated for either Survey To perform Hospital Anxiety and (France) sporadic or familial or were at psychometric and Depression Scale (HADS) risk for medullary thyroid quality of life Subjective Quality of Life carcinoma measurements in a Profile (SQLP) 44
  • 45. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure population of individuals belonging to medullary- thyroid carcinoma families Fries et al, 2004 57 high-risk patients for Prospective follow- To assess the outcome Brief Symptom Inventory (USA) inherited breast or ovarian up of accelerated patient (BSI) cancer. surveillance in patients Profile of Mood States at high risk for inherited (POMS) breast or ovarian cancer. Furr & Kelly 1999 330 European American adults Survey To develop a uni- Genetic Knowledge Index (USA) (over 18 years) randomly dimensional index of (GKI) selected from a US population genetic knowledge Geller et al. 1993 1140 physicians (obstetricians, Survey To develop a modified modified Tolerance for (USA) paediatricians, internists, family tolerance for ambiguity Ambiguity Scale (TFA) practitioners and psychiatrists) scale to elicit physicians’ in USA knowledge and attitudes about genetic testing and determine its 45
  • 46. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure psychometric properties. To determine the relationship of the TFA scale with physicians’ demographic characteristics, their training and several behavioural variables including religiosity Grosfeld et al. 47 parents (22 parental Prospective follow- To explore the General (Global) Severity 2000 (The couples and 3 single parents) up psychological reactions Index (GSI) of the Symptom Netherlands) of children (newborn to 14 displayed by parents of Check List-90 (SCL90) years of age) who had a their children’s DNA test Impact of Event Scale (IES) genetic test for the cancer results. Spielberger State Trait disorder multiple endocrine Anxiety Inventory (STAI) neoplasia type 2. Gwyn et al, 2003 518 women (50 years of age Survey To examine whether Breast Cancer Worry Awareness of genetic testing (USA) and over) who had undergone women due for routine for breast cancer a screening mammogram 12 to mammography would Interest in genetic testing 46
  • 47. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure 14 months before the study but want testing for breast no prior history of breast cancer susceptibility and cancer, abnormal mammogram what factors might or signs of breast cancer. impact on their decision to pursue testing. Hailey et al, 2000 51 women with (26) or without Survey To learn about the Anticipated impact of results Perception of risk (USA) (25) a first-degree relative with impact of having a first- Assessment of benefits and breast cancer. degree relative for risk of breast cancer testing women not involved with Beck Depression Inventory a formal breast cancer (BDI) prevention program. (Breast) Cancer Attitude Inventory (CAI) and Anxiety sub-scale (BCANX) Impact of Event Scales (IES) Harris et al, 75 patients (16 to 38 years) Survey To assess the Spielberger Stait-Trait Feelings about the 1996 (UK) receiving routine antenatal acceptability of Anxiety Inventory (STAI) pregnancy and the baby care in a two-partner training integrating cystic fibrosis Knowledge of cystic fibrosis practice offered carrier testing carrier testing into and factors influencing for cystic fibrosis using a antenatal care by decision to have test computer protocol. general practitioners at 47
  • 48. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure the first booking appointment. Holloway et al, 374 women referred from Survey To explore women’s Breast Cancer Worry 2004 (UK) participating general practices expectations of cancer General Health to the regional genetics genetic services and the Questionnaire (GHQ) department for breast cancer results of a trial Medical Interview genetic risk counselling. No assessing women’s Satisfaction Scale (MISS) symptoms or diagnosis of satisfaction with a new breast or ovarian cancer model of service delivery. Hurt et al. 2001 17 first-degree relatives (18 Survey To measure Center for Epidemiological Family history form (USA) years and over) of women psychological distress Studies Depression Scale Personal history form diagnosed with breast cancer and the feasibility of a (CES-D) psychological Impact of Events Scale (IES) intervention to reduce Miller Behavioral Style Scale distress in patients (MBBS) see also Monitoring undergoing risk Blunting Behavioural Style assessment. Scale Profile of Mood States 48
  • 49. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure (POMS) brief form Katapodi et al. 42 studies (64,276 Systematic review To synthesise research Instruments for perceived risk (validated and non-validated) 2004 (USA) participants) and meta-analysis findings of studies on perceived breast cancer risk. The study examined demographic, psychological, and physiological variables as predictors of perceived breast cancer risk and the relationship between perceived breast cancer risk and breast cancer prevention and early detection. Keller et al, 2002 65 individuals with colorectal Survey To explore distress and Breast Cancer Worry Ability to cope (Germany) cancer (35) and unaffected but health beliefs before (modified for colorectal) Attitudes to genetic testing at-risk (30) who participated in and after Giessener Complaints Evaluation of counselling interdisciplinary counselling comprehensive Inventory (GBB) Health beliefs 49
  • 50. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure provided by human geneticists, interdisciplinary Hospital Anxiety and Perception of control surgeons and psycho- counselling in families at Depression Scale (HADS) Threat of HNPCC oncologists before genetic risk for HNPCC. Impact of Events Scale (IES) Vulnerability testing. Medical Outcomes Survey Short-Form-12 Kent et al. 2000 69 asymptomatic women Survey To assess changes in Hospital Anxiety and Perceived risk Thought (UK) referred to a breast cancer perceived risk, cognitive Depression Scale (HADS) content and intrusiveness of family history clinic. intrusions and distress Psychological Consequences the thoughts in women undergoing Questionnaire (PCQ) counselling for familial risk of developing breast cancer. Kromberg et al, 89 individuals (30 at-risk for Intervention To investigate the Beck Depression Inventory 1999 (South predictive testing; 7 for utilisation and sequelae (BDI) Africa) prenatal testing and 52 for of the predictive, Life Coping Skills diagnostic testing) prenatal and diagnostic services offered to families with suspected 50
  • 51. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Huntington’s disease. Lodder et al, 28 men requesting Survey To analyse distress in Hospital Anxiety and 2001 (The BRCA1/BRCA2 testing and males at risk of carrying Depression Scale (HADS) Netherlands) their partners. a BRCA1/BRCA2 Impact of Event Scale (IES) mutation. Life Orientation Test (LOT) Symptom Checklist-90 (SCL-90) Ludman et al. 91 women awaiting medical Survey To assess female Knowledge about genetic Beliefs about access to 1999 (USA) appointments at a primary care primary care patients’ testing for inherited cancer BRCA1 testing Intention to clinic. knowledge about breast (Inherited Breast Cancer and be tested cancer genetics and BRCA1 Testing) attitudes toward genetic testing. Matthews et al. 102 patients attending a clinic Survey To assess general Breast Cancer Worry Cancer Risk Assessment 2002 (USA) (visits with both genetic and psychological distress Center for Epidemiological Program Evaluation psychological counsellors) at a among high-risk patients Studies Depression Scale Global Emotional Functioning cancer risk program undergoing brief form (CES-D) Health status predisposition Impact of Events Scale (IES) counselling and/or testing for inherited 51
  • 52. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure cancers in a cancer risk clinic. To identify the outcome of the pilot program. To identify factors associated with increased acceptance of psychological services. Meiser et al, 333 women waiting initial Survey To assess intention to General Health Accuracy of breast cancer 2000 (Australia) appointments for risk undergo prophylactic Questionnaire (GHQ) risk perception assessment, advice about bilateral mastectomy Impact of Event Scale (IES) Intention to undergo surveillance, and prophylactic and psychologic prophylactic mastectomy options at one of 14 familial determinants in cancer clinicians unaffected women at increased risk of developing hereditary breast cancer. Meiser & 12 studies. Total number of Systematic review To synthesise the General Health Accuracy of perceived risk of Halliday. 2002 participants not known. and meta-analysis published empirical Questionnaire-12 (GHQ12) developing cancer (Australia) literature of prospective General Health 52
  • 53. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure and randomised Questionnaire-30 (GHQ30) controlled trials that Profile of Mood State include at least one of (POMS) the following outcomes Spielberger State Trait as variables: Anxiety Index-State (STAI- Psychological distress State) (Generalised anxiety; Depression; Breast cancer Anxiety); Accuracy of perceived risk of developing cancer; Breast cancer genetics knowledge; Breast cancer screening uptake Michie et al. 35 patients attending a Prospective follow- To determine the validity Spielberger State Trait Counsellor-defined important 1997a (UK) regional genetics centre up of using genetic Anxiety Inventory-State information excluding those attending for a counsellors reports of (STAI-State) Patient-defined important pre-determined package of information given in information 53
  • 54. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure counselling, those who had genetic consultations as Patients hopes and concerns previously visited the centre, the basis for a measure Patient recall of information non-English speakers and of patient recall. patients without a telephone Michie et al. 32 patients referred to a Survey To categorise the key Spielberger State Trait Knowledge questionnaire 1997b (UK) regional genetics centre points given in genetic Anxiety Inventory-State Meeting of expectations counselling, assess the (STAI-State) Satisfaction with information amount and type of information recalled, and examine the relationship between counsellees‘ knowledge, satisfaction with information received, the meeting of expectations, concern and anxiety. To measure how much and what types of 54
  • 55. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure information given during a genetic counselling session are recalled and whether this is influenced by receiving a summary letter. Miller et al, 2005 279 women (18 years and Intervention To evaluate whether an Knowledge Scale about Intention to obtain genetic (Greece) over) who telephoned a region educational intervention Breast (and Ovarian) Cancer testing Perceived risk cancer information service would (a) for average and Hereditary Satisfaction with service expressing concerns about risk women increase Monitoring-Blunting Style their risks for breast or ovarian knowledge and Scale (MBSS) cancer decrease risk perceptions and intentions to obtain genetic testing (b) for high risk women increase their intention to obtain genetic testing, greater risk-related 55
  • 56. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure knowledge and greater risk perceptions. Peters et al, 2000 31 parents caring for children Survey To describe the Beck Depression Inventory Parental confidence in the with Proteus syndrome depression status in (BDI) diagnosis of Proteus parents of individuals syndrome with Proteus syndrome Pieterse et al, 200 individuals (18 years or Survey To describe the Impact of Events Scale (IES) 2005 (The older) referred to a department construction and Quality of Care Through the Netherlands) of medical genetics for psychometric properties Patients’ Eyes (QUOTE)- hereditary cancer. of the QUOTE-geneCA, a geneCA counselee-centred State-Trait Anxiety Inventory instrument intended to (STAI) measure the needs and Threatening Medical preferences in genetic Situation Inventory (TMSI) counselling for see also Monitoring-Blunting hereditary cancer. Style Scale (MBSS) Read et al, 2005 323 individuals affected by Survey To develop and Psychological Adaptation to (USA) genetic diseases psychometrically Genetic Information Scale evaluate the (PAGIS) 56
  • 57. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Psychological Adaptation to Genetic Information Scale (PAGIS) Ritvo et al, 2000 60 women given familial Survey To report the Center for Epidemiological (Canada) genetic evaluations for ovarian psychological responses Studies Depression Scale cancer risk at their first of women given familial (CES-D) appointment. genetic evaluations for Life Orientation Test (LOT) ovarian cancer risk Medical Outcomes Study Social Support Scale (MOSS) State-Trait Anxiety Inventory (STAI) Rose et al. 1999 122 patients (between 20 and Survey To evaluate the Spielberger State-Trait Knowledge questionnaire (UK) 34 years) registered at one feasibility and Anxiety Inventory (STAI) Patient views on reasons for family practice acceptability of taking attendance, awareness and routine family histories understanding and and subsequent genetic acceptability of service to counselling patients 57
  • 58. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure Schwartz et al, 289 high-risk women (25 years Prospective follow- To prospectively Breast (and ovarian) Cancer Perceived risk 2003 (USA) of age and over) who had up examine the impact of Worry genetic counselling and testing BRCA1/2 testing on the Hopkins Symptom Checklist for alterations in the BRCA1/2 use of prophylactic (HSL) genes oopherectomy and Impact of Events Scale (IES) ovarian cancer State Anxiety Inventory screening (STAI) Schwartz et al. 194 newly diagnosed patients Survey To evaluate the impact Functional Assessment of Patient reports of 2004 (USA) with breast cancer who had not on surgical decision- Cancer Therapy (FACT) recommendation for: genetic yet received definitive surgical making of pre-treatment Impact of Event Scale (IES) testing and surgery treatment and who had at least genetic counselling and Spielberger State-Trait Treatment decisions a 10% prior probability of BRCA1/2 testing among Inventory-State (STAI-State) carrying a BRAC1/2 mutation. breast cancer patients at high risk for carrying a mutation. Schwartz et al, 211 patients newly diagnosed Survey To evaluate factors Functional Assessment of 2005 (USA) with breast cancer who had not associated with the Cancer Therapy-General yet received definitive local decision to undergo (FACT) breast cancer treatment and BRCA1/2 gene testing Impact of Events Scale (IES) 58
  • 59. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure who had a family history at the time of initial State Anxiety Scale of the consistent with hereditary breast cancer diagnosis. State Trait Anxiety Inventory breast cancer. (STAI) Skirton et al. 97 clients (18 years and over) Survey To use clients’ accounts Audit Tool for Genetic 2005 (UK) of a genetic service in Wales and factor analysis to Services with any type of genetic develop a robust condition or concern assessment and audit tool related to outcomes of genetic services. Stalmeier et al. 51 healthy women who had Before and after To evaluate the shared Breast cancer (hereditary) 1999 (The family histories of breast decision making concern Netherlands) cancer referred for breast program for women Desire to participate in the cancer risk counselling and suspected to have a shared decision making screening. genetic predisposition to program breast cancer in terms Emotional reaction to the of practicality, beneficial program information Intention effects and patient to act upon shared decision satisfaction. making program Risk comprehension and 59
  • 60. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure subjective knowledge of women in the shared decision making program Satisfaction with shared decision making program Shared decision making program rationale acceptability 35. Stalmeier et al. 368 patients at high risk for Survey To investigate which Center for Epidemiologic Attitudes to genetic testing 2005 (The breast and ovarian cancer, psychological factors Studies Depression-Scale and the impact of the results Netherlands) awaiting a genetic test result, play a role when (CES-D) on their lives and facing the choice between patients evaluate their Decision Evaluation Scales: Treatment choice; strength of prophylactic surgery or medical treatment Decision Control Scale; treatment preference and screening. choices. Satisfaction-Uncertainty strength of preference of the Scale and Informed Choice specialist; partner Scale agreement; subjective Impact of Event Scale (IES) knowledge; amount of State Trait Anxiety (STAI) information; satisfaction with quality of information; negative emotional reaction 60
  • 61. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure to information; need for support/advice 36. Steinbart et al. 11 people at risk for familial Survey To assess the effects of Hospital Anxiety and 2001 (USA) Alzheimer disease and DNA testing for early- Depression Scale (HADS) frontotemporal dementia who onset familial Alzheimer Impact of Event Scale (IES) requested genetic testing after disease and an invite letter frontotemporal dementia 37. Trask et al. 2001 205 women referred to the Before and after To develop and validate Medical Outcomes Short- (USA) breast and ovarian risk a measure designed to Form Survey (SF-36) evaluation program because determine whether Profile of Mood States they have a family history of patients attending a (POMS) breast or ovarian cancer in one newly-founded breast Worry Interference Scale or more close relatives or other and ovarian cancer risk (WIS) risk factors leading to a evaluation clinic presumed increase risk profile perceived their cancer- specific thoughts as interfering with their functioning in a number of areas. van Oostrum et 65 (of these 51 also Survey To explore long-term Breast Cancer Worry – five Risk and test perceptions 61
  • 62. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure al. 2003 (The interviewed) unaffected women psychosocial items only Netherlands) with a 25 to 50% risk of consequences of Body Image/Sexuality Scale carrying a BRCA1/2 mutation carrying a BRCA1/2 (BISS) applying for genetic mutation and to identify Hospital Anxiety and predisposition testing in a possible risk factors for Depression Scales (HADS) Family Cancer Clinic long-term psychological Impact of Events Scale (IES) distress Openness to Discuss Cancer in the Family Scale - adapted Vadaparampil et 19 studies and 2517 Systematic review To review the Breast Cancer Worry Scale al. 2005 participants instruments most Brief Symptom Inventory (USA) commonly used to (BSI) measure depression, Centers for Epidemiologic anxiety and distress and Studies and Depression summarise the reported Scale (CES-D) psychometric properties General Health to assess the Questionnaire (GHQ) psychological factors Hospital Anxiety and measured among Depression Scales (HADS) individuals at increased Hopkins Symptoms 62
  • 63. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure risk for hereditary Checklist-25 (HSCL-25) breast, ovarian or colon Impact of Event Scale (IES) cancer. Profile of Mood State – short form State-Trait Anxiety Inventory (STAI) Wagner et al. 90 people from families in Survey To evaluate the effect Self-rating Depression Scale Attitude of mutation carriers 2000 (USA) which BRCA1 or BRCA2 was that an awareness of (SDS) towards the option of detected previously. being a BRCA1 or prophylactic mastectomy and BRCA2 mutation carrier or oopherectomy has on the attitude towards prophylactic surgery and on developing depression symptoms. Watson et al. 293 women attending four Survey To investigate the Cancer Anxiety and Expectations of service 2005 (UK) genetic clinics impact of genetic Helplessness Scale Perception of risk counselling on (Breast) Cancer Worry Scale management of breast General Health cancer risk in women Questionnaire-12 item 63
  • 64. Study, year Participants and genetic Study type Aim of study Validated Outcome measure Non-validated outcome (country) condition measure attending Cancer Family (GHQ-12) Clinics. Impact of Event Scale (IES) Perceived barriers to mammography Health Beliefs Model (screening and breast cancer) Spielberger State-Trait Anxiety Inventory (STAI) Wolraich et al. 121 participants: 101 patients Case-control To determine the Medical Communication Patient knowledge of genetic 1986 (USA) (parents of children with properties of an Behaviour System (MCBS) condition survey disorders, children with observation system that Medical Interview disorders, relatives concerned was designed to be Satisfaction Scale- modified about having children similarly used in assessing (MISS) affected, persons belonging to situations involving Roter Interactional Analysis at risk ethnic groups, women of multiple health-care System (process not advanced parental age) providers and family outcome measure) evaluated by a genetic units, in which the care counseling service and 20 providers are dealing unobserved ‘control’ patients. with potentially stressful 64
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  • 70. Stalmeier PF, Unic IJ, Verhoef LC, van Daal WA. Evaluation of a shared decision making program for women suspected to have a genetic predisposition to breast cancer: preliminary results. Medical Decision Making 1999;19:230-41. Stalmeier PF, Roosmalen MS, Verhoef LC, Hoekstra-Weebers JE, Oosterwijk JC, Moog U, et al. The decision evaluation scales. Patient Education & Counselling 2005;57:286-93. Steinbart EJ, Smith CO, Poorkaj P, Bird TD. Impact of DNA testing for early-onset familial Alzheimer disease and frontotemporal dementia. Archives of Neurology 2001;58:1828-31. Trask P, Paterson AG, Wang C, Hayasaka H, Milliron K, Blumberg L, et al. Cancer-specific worry interference in women attending a breast and ovarian cancer risk evaluation program: Impact on emotional distress and health functioning. Psychooncology 2001;10:349-60. Van OI, Meijers-Heijboer H, Lodder LN, Duivenvoorden HJ, van Gool AR, Seynaeve C, et al. Long-term psychological impact of carrying a BRCA1/2 mutation and prophylactic surgery: a 5-year follow-up study. Journal of Clinical Oncology 2003;21:3867-74. Vadaparampil ST, Ropka M, Stefanek ME. Measurement of psychological factors associated with genetic testing for hereditary breast, ovarian and colon cancers. Familial Cancer 2005;4:195-206. Wagner TM, Moslinger R, Langbauer G, Ahner R, Fleischmann E, Auterith A, et al. Attitude towards prophylactic surgery and effects of genetic counselling in families with BRCA mutations. Austrian Hereditary Breast and Ovarian Cancer Group. British Journal of Cancer 2000;82:1249-53. Watson M, Kash KM, Homewood J, Ebbs S, Murday V, Eeles R. Does genetic counselling have any impact on management of breast cancer risk? Genetic Testing 2005;9(2):167-174. Wolraich ML, Albanese M, Stone G, Nesbitt D, Thomson E, Shymansky J, Bartley J, Hanson J. Medical Communication Behaviour System. An interactional analysis system for medical interactions. Medical Care 1985;24:891-903. Appendix 3: Description of validated outcome measures used in the evaluation of clinical genetics services 70
  • 71. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Anticipated impact Hailey et al. Two domains: anticipated impact of positive result (6 To assess the likelihood of a Rating scale Int R of results (2000) items) and anticipated impact of negative result (6 variety of possible psychological Index Lerman et items) reactions to a positive and Genetics al. (1995) negative test result. specific Non- preference based Assessment of Hailey et al. Two sections: 6-item scale on perceived benefits of To assess the perceived benefits Rating scale Int R benefits and risk of (2000) genetic testing and 5-item scale on perceived risks of and risks of genetic testing. Profile breast cancer Lerman et genetic testing Genetics testing al. (1995) specific Non- preference based Audit Tool for Skirton et 18-items with six-factors: enhanced understanding; To measure outcomes of clinical Rating scale Face V Genetic Services al. (2005) positive psychological change; respect for autonomy; genetics services. Profile Con V adaptation; disequilibrium; value of contact Genetics specific Non- preference 71
  • 72. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a based Beck Depression Beck et al. 21 symptoms and attitudes: mood; pessimism; sense To measure the intensity of Rating scale Int R Inventory (BDI) (1988) of failure; lack of satisfaction; guilt feelings; sense of depression in psychiatrically Index Con V punishment; self-dislike; self-accusation; suicidal diagnosed patients and for Non-genetics Cstruc V wishes; crying; irritability; social withdrawal; sleep detecting depression in normal specific Crit V disturbance; fatigability; loss of appetite; weight loss; populations. Non- somatic preoccupation and loss of libido. Scored by preference summing the ratings given to each of the 21 items. based Two long versions (21-items) and one short version (13-item) have been developed. Beliefs About Breast Bowen et Three scales: fear of stigma (3-item); beliefs about To measure specific beliefs about Rating scale Int R Cancer Genetic al. (2002) unrestricted access to genetic testing (2-items); breast cancer genetic testing. Profile Testing unrestricted flow of information about test results Genetics among family members and physicians (3-items). specific Non- preference based Body Van 28-items based on three scales: general body image To assess body image and Rating scale Int R Image/Sexuality Oostrum et (five dimensions and six items); breast-related body general sexual functioning Index Retest R Scale (BISS) al. (2003) image (three items) and general sexual functioning Genetics Lodder et (five dimensions and seven items). Two items specific 72
  • 73. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a al. (2002) concerned estimated importance of physical Non- appearance; three items concerned frequency and preference quality of non-sexual intimacy; five items concerned based perceptions of partner’s feelings and two items asked how important one judged cuddling or having sex with the partner. A separate scale is available for partners. (Breast) Cancer Berrenberg 41-item self-report scale. To assess attitudes towards Rating scale Int R Attitude Inventory (1991) Two shortened versions exist: 30-item with word cancer. Profile Retest R (CAI) and Anxiety Hailey et al. ‘breast’ added before cancer and 8-item for anxiety Non-genetics Cstruc V sub-scale (BCANX) (2000) (BCANX) specific Non- preference based Breast cancer Stalmeier Four questions To determine concern about Rating scale Int R (hereditary) concern et al. (1999) breast cancer Index Genetics specific Non- preference based Breast Cancer Erblich et 27-item version (mixed true/false and multiple choice To assess knowledge of Rating scale Int R 73
  • 74. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Genetic Counselling al. (2005) format) assessing: basic Mendelian genetic information generally provided Profile Con V Knowledge information; transmission of genetic risk for breast during breast cancer genetic Genetics Crit V Questionnaire cancer; implications of BRCA1/2 status for risk of counselling. It may provide a specific (BCGKQ-27) developing other cancers, implications of carrier status method to assess the impact of Non- for one’s own risk, implications for family members’ stress and other factors given preference risks, implications for one’s screening behaviour and that distress and worry based information regarding the utility of prophylactic associated with risk for breast measures cancer may have an impact on processing of information. Breast Cancer Lerman et Three items: frequency of worry; impact on mood; To assess dimensions of cancer Rating scale Int R Worry al. (1991a) impact on functioning. Also, six-item scale available. worry Profile Retest R Lerman et Non-genetics al. (1991b) specific McCaul et Non- al. (1998) preference based Brief Symptom Derogatis A shortened form of the SCL-90 R. Nine symptom To assess psychological Rating scale Int R Inventory (1983) dimensions and a global index of distress: The Global symptom patterns in normal Profile and Retest R Severity Index (GSI) populations and in psychiatric index patients. Non-genetics 74
  • 75. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a specific Non- preference based Cancer Anxiety and Kash et al. 12-item To assess women’s general Rating scale Int R Helplessness Scale (1992) cancer anxiety and sense of Profile helplessness. Non-genetics specific Non- preference based Center for Radloff 20-item scale that includes: depressed mood; feelings To measure depressive Rating scale Int R Epidemiologic (1977) of guilt and worthlessness; feelings of helplessness symptomatology in the general Index Retest R Studies Depression- Ross & and hopelessness; psychomotor retardation; loss of population rather than the Non-genetics Cstruct V Scale (CES-D) and Mirowsky appetite and sleep disturbance. Scores range from 0 to assessment for diagnosis at specific brief form (1984) 60 with higher score indicating more symptoms. There clinical intake and/or evaluation Non- is also a brief form that contains seven-items: of severity of illness over the preference depressed affect; positive affect; somatic complaints; course of treatment. based interpersonal problems. Decision Evaluation Stalmeier 15-items representing three separate scales: Decision To assess how patients evaluate Rating scale Int R Scales et al. (2005) Control Scale; Satisfaction-Uncertainty Scale and their medical treatment choice. Profile Con V 75
  • 76. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Informed Choice Scale. Non-genetics Cstruc V specific Non- preference based Decisional Conflict O’Connor Scale that contains questions derived from the To measure decisional conflict, Rating scale Int R Scale (DCS) (1995) decisional conflict construct: uncertainty (three items); which is a state of uncertainty Index Retest R Bunn & selected factors contributing to the uncertainty (nine about the course of action to Non-genetics Cstruc V O’Connor items) and perceptions of effective decision-making take. Designed to elicit: specific Crit V (1996) (five items). Scores range from one (low decisional uncertainty about choosing Non- conflict) to five (high decisional conflict). among alternatives; modifiable preference factors contributing to certainty, based such as feeling informed, clear about values, and supported in decision-making; and perceived quality of decision making. Decision making Brain et al. 4-item scale: time spent thinking about whether or not To measure the extent to which Rating and Int R process (2005) to have test; number of people discussed with; how women thought or ‘agonised’ multiple-choice Michie et many reasons in total considered and how difficult it about the decision. Profile al. (1997) was to make upo their mind about the test. Genetics 76
  • 77. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a specific Non- preference based Desire to participate Stalmeier Four questions To measure desire to participate Rating scale Int R in the shared et al. (1999) in the shared decision making Index decision making program Genetics program specific Non- preference based Emotional reaction Stalmeier Four items To measure the emotional Rating scale Int R to the program et al. (1999) reaction to information given on Index information the shared decision making Genetics program specific Non- preference based Family Environment Moos & 90-item survey with 10 subscales representing Designed to measure the social- Rating scale Int R Scale (FES) Moos dimensions of: family relationships (conflict, cohesion environmental characteristics of Profile Retest R (1994) and expressiveness); personal growth (independence, all types of families. Three forms Non-genetics Face V 77
  • 78. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Halvorsen achievement orientation, intellectual-cultural of the FES are available: The specific Con V (1991) orientation, active-recreational orientation and moral- Real Form (Form R) measures Non- Cstruc V religious emphasis; system maintenance (organization people’s perceptions of their preference and control measures). Families are then grouped into actual family environments, the based one of three family environment typologies. Ideal Form (Form I) rewords items to assess individuals’ perceptions of their ideal family environment, and the Expectations Form (Form E) instructs respondents to indicate what they expect a family environment will be like under, for example, anticipated family changes. A children’s version is also available. Functional Cella et al. FACT-general consists of five subscales: physical well- To measure quality of life in Rating scale Int R Assessment of (1993) being; emotional well-being; social well-being; patients with cancer. There is Profile and Retest R Cancer Therapy- Brady et al. functional well-being and relationship with doctor. It also a scale specific to breast Index Cstruc V General (FACT) (1997) contains 28 items. The FACT-B scale consists of the cancer. Non-genetics S FACT-general plus the breast cancer subscale. It specific 78
  • 79. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a contains 44-items. Breast Cancer subscale consists of Non- nine items. preference based General Health Goldberg & Versions available: To detect those with a Rating scale Int R Questionnaire Williams GHQ-60; GHQ-30; GHQ-28; GHQ-12. diagnosable psychiatric disorder. Index Retest R (GHQ) (1988). 60-items (GHQ-60). Scaled version (GHQ-28) contain It looks at two areas: inability to Non-genetics Con V Goldberg & 28-item with 4 subscales (somatic symptoms; anxiety carry out one’s normal ‘healthy’ specific Cstruc V Hillier and insomnia; social dysfunction and sever functions and the appearance of Non- Crit V (1979) depression). new phenomena of a distressing preference S nature. based I Genetic Counseling Tercyak et Six-items related to the process and content of a To assess patient satisfaction Rating scale Int R Satisfaction Scale al. (2001) genetic counselling session: length of time spent in with the process and content of Index Face V (GCSS) genetic counselling; counselor’s perceived genetic counselling Genetics understanding of, and empathy toward, patient stress; specific perceived helpfulness and value of the session; degree Non- of feelings of reassurance. Satisfaction with information preference received. based Genetic Knowledge Furr & Kelly Five items: prevent and cure; determinism; racial To measure level of genetic Rating scale Int R Index (GKI) (1999) academic differences; only mothers can pass genes knowledge, not specific to a Index Cstruc V and unhealthy. Four domains measure knowledge genetic disease. Designed to be Genetics 79
  • 80. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a concepts of causality: clinical genetics; health, illness an edumetric rather than specific and disease; social characteristics or stigma and psychometric measure. Non- inheritance/heritability. Uses true/false format. preference based Global Severity Derogatis SCL-90R has 90-items. It has 9 primary symptom The SCL-90R was designed to Rating scale Int R Index (GSI) of the (1983) dimensions (somatization; obsessive-compulsive; reflect the psychological Profile Retest R Symptom Check interpersonal sensitivity; depression; anxiety; hostility; symptom patterns of psychiatric Non-genetics Cstruc V List-90 (SCL90) phobic anxiety; paranoid ideation; psychoticism) plus 7 and medical patients. To specific Crit V extra clinically important items. Three 3 global indices measure the degree to which Non- S of distress are used (global severity index; positive they suffered from psychological preference symptom distress index; positive symptom total). complaints based Health Beliefs Model Kash et al. 11-items To assess perceived Rating scale Face V (screening and (1992) susceptibility to disease, severity Profile breast cancer) of disease, benefits of Non-genetics intervention, risks of intervention, specific and practical obstacles to Non- intervention. preference based Health Orientation Woolridge A written self-report instrument. Nine situations posed Designed to objectively appraise Rating scale Int R Scale & Murray (6 relate to sickle trait and 2 directed to more generally the psychological implications of Profile Retest R 80
  • 81. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a (1989) feared health conditions eg. cancer and hypertension, identification as a sickle cell gene Genetics Cstruc V one addresses self-concept). Each situation followed carrier. Also used to assess the specific by 12 bipolar semantic differential (rating) scales with 3 emotional implications of being a Non- dimensions: evaluative; potency and activity. carrier of the CF-gene preference based Hopkins Symptom Derogatis Main scale has 58-items with 5 dimensions To assess the presence and Rating scale Int R Checklist (HSCL) et al. (1974) (somatisation; obsessive-compulsive; interpersonal severity of anxiety and Profile retest R sensitivity; anxiety and depression). 25-item scale to depression symptoms over the Non-genetics Cstruc V assess anxiety and depression previous month. It is a self-report specific Crit V symptom inventory. Non- preference based Hospital Anxiety and Zigmond & 14 questions with two subscales: anxiety and Self-assessment mood scale Rating scale Int R Depression Scale Snaith depressions each including seven items designed for use in non- Profile Con V (HADS) (1983) psychiatric hospital patients to Non-genetics detect states of depression and specific anxiety. Non- preference based Impact of Event Horowitz et 15-items of which seven measure intrusion To evaluate current subjective Rating scale Int R Scale (IES) al. (1979) characterised by unbidden thoughts and images of the distress for any life event. The Index Retest R 81
  • 82. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a event and eight items measure avoidance wording is not anchored to a Non-genetics S characterised by denial of meanings and specific occurrence but to the specific consequences of the event particular qualities of conscious Non- experience that encompass all preference such events. based Intention to act upon Stalmeier Two questions To measure the intention to act Rating scale Int R shared decision et al. (1999) upon the shared decision making Index making program program Genetics specific Non- preference based Knowledge About Donovan & 18-items with the following dimensions: symptoms; risk To assess women’s knowledge Rating scale Int R Breast Cancer Tucker factors for breast cancer; misconceptions; of several dimensions of breast Profile Con V (2000) epidemiology and curability. Also versions called cancer. Generic Stager Breast Cancer Knowledge Test (20-items) (Stager Non- (1993) 1993) and Women’s Knowledge about Breast Cancer preference Vaeth (16-items) (Vaeth 1993) based (1993) Knowledge about Lerman et 11-item scale. Adapted to HNPCC (Brain et al. 2005) To assess knowledge of True/false Int R genetic testing for al. (1996) inheritance of breast-ovarian rating 82
  • 83. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a inherited cancer cancer susceptibility and genetic Profile testing. Genetics specific Non- preference based Knowledge about Donovan & 14-item scale: hereditary knowledge about breast To assess women’s knowledge Rating scale Int R genetic risk for Tucker cancer and increased risk of breast cancer associated about the hereditary nature of Profile breast cancer (2000) with BRCA1 or BRCA2 gene (11-items) (Hughes 1997, breast cancer and the increased Genetics Lerman 1997); legal, ethical and social implications of risk of breast and ovarian cancer specific receiving genetic test results (3-items) (Mark, Garber associated with altered BRCA1 Non- and Patenaude 1995, Rothstein 1995) or BRCA2 gene. preference based Knowledge Scale Ondrusek N 11-item scale measuring: knowledge about breast Developed to test general Rating scale Retest R about Breast (and et al. (1999) cancer incidence and prognosis, risk factors, knowledge about breast cancer Index Con V Ovarian) Cancer screening, disease presentation and treatment and and hereditary breast cancer Non-genetics and Hereditary hereditary breast cancer. The 11-items fall into three among women at low to specific areas: incidence and etiology (3 items); screening, moderate risk of hereditary Non- disease presentation and treatment (4 items) and breast cancer. preference genetics (4 items). Adapted to include ovarian cancer. based Life Orientation Test Scheier et The Life Orientation test is an 8-item measure (plus 4 To measure the level of optimism Rating scale Int R 83
  • 84. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a (LOT) al. (1994) filler items). The revised (brief) (LOT) comprised 10- in one’s outlook on life Index Retest R Carver et item scale and only 6 of the 10 items used to derive an Non-genetics Cstruc V al. (1994) optimism score (4 filler items). specific Non- preference based Measure of Braitman & 26-item questionnaire relating to the recurrence risk for To measure counselees’ Rating scale Face V Counselees’ Antley. Down syndrome; basic genetic knowledge; knowledge knowledge and/or understanding Index Con V Knowledge of Down (1978) about prenatal diagnosis. 12-questions selected as a of Down syndrome Genetics Int R Syndrome post-test and 8-questions selected as a pre-test specific Non- preference based Medical Wolraich et Codes 13-healthcare provider and 10 patient To assess physician-patient Rating scale Con V Communication al. (1986) behaviours organised into: informational; relational and interactions that involve giving Profile Cstruc V Behaviour System negative behaviour categories. distressful information. Genetics Crit V (MCBS) specific Non- preference based Medical Interview Wolf et al. 29-items: 11 items relate to distress relief (cognitive To assess the patient’s Rating scale Int R 84
  • 85. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Satisfaction Scale - (1978) domain); 10 items relate to rapport (affective domain); perception of a particular care Profile Con V modified (MISS) 4 items relate to communication comfort encounter rather than satisfaction Non-genetics (communication behaviour); 4 items relate to with medical care in general specific compliance (behaviour intent). Modified version: Non- removed 9 items that did not relate to genetic preference counselling and re-wording some questions to make based them appropriate for genetic counselling Medical Outcomes Ware 36-item questionnaire with eight domains: physical To measure quality of life. Rating scale Int R Short-Form Survey (1993) functioning; social functioning; role-emotional; role- Profile and Con V (SF-36 and SF-12) Jenkinson physical; bodily pain; vitality; mental health; general index Crit V Oxford, 1996 et al. (1996) health. Also, 12-item version. Non-genetics Cstruc V specific Non- preference based Medical Outcomes Sherbourne 19-item measuring 5 dimensions: emotional; To measure the current Rating scale Int R Study Social et al. (1991) informational; tangible; affectionate and positive social availability of functional support Profile Retest R Support Scale interaction. Non-genetics Cstruc V (MOSS) specific Non- 85
  • 86. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a preference based Monitoring Blunting Miller Describes four hypothetical threatening/stress-evoking To determine information-seeking True/false Int R Style Scale (MBSS) (1987) situations each followed by eight statements describing coping style. rating Retest R see also Miller ways of dealing with the situation. Profile and Behavioural Style index Scale and Non-genetics Threatening Medical specific Situation Inventory Non- (TMSI) preference based Minnesota Graham 566 statements with: 8 Validity Scales*; 5 Superlative To assess general personality True/false Int R Multiphasic (1987) Self-Presentation Subscales*; 10 Clinical Scales; 9 profile. Ego strength is Profile Retest R Personality Barron Restructured Clinical (RC) Scales; 15 Content Scales*; conceptualised as the general Non-genetics Con V Inventory (MMPI) (1953) 27 Content Component Scales*; 20 Supplementary capacity for personality specific Cstruc V plus supplementary Scales*; 31 Clinical Subscales*; various special or integration. People with high ego Non- Crit V ego strength scale setting-specific indices* (*not included in all reports). strength tend to have good preference The Basic Service Report only provides information on coping strategies to deal with based 3 Validity Scales (L, F, K) and the 10 Clinical Scales, stress which are located in the first 370 items. Several 86
  • 87. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a additional supplementary scales have been developed, such as Ego strength which consists of 68 items grouped under: physical functioning and physiological stability; psychasthemia and seclusiveness; attitudes towards religion; moral posture; sense of reality; personal adequacy, ability to cope; phobias, infantile anxieties; miscellaneous. Modified Maternal Goel et al. Original questionnaire 14-items (Knowledge of Original questionnaire designed Rating scale Int R Serum Screening (1996) maternal serum screening) that has been modified to to assess knowledge about Index Knowledge 19-items. maternal serum screening. Genetics Questionnaire Modified to assess knowledge of specific (MSSKQ) prenatal testing in general rather Non- than maternal serum screening preference based modified Tolerance Geller et al. Seven-items related to tolerance for ambiguity. Two To measure ambiguity tolerance Rating scale Int R for Ambiguity Scale (1993) sub-scales present: desire for certainty (4 items) and as a more general personality Index Con V (TFA) willingness to admit discomfort with ambiguity (3 items) trait. Intolerance for ambiguity Non-genetics has been defined as ‘the specific tendency to perceive situations Non- that are novel, complex or preference 87
  • 88. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a insoluble, as sources of threat.’ based Multidimensional Cella et al. 25-item questionnaire containing 21 questions for all To assess concerns and Rating scale Int R Impact of Cancer (2002) respondents and 4 questions on parenthood status, psychosocial issues associated Profile Cstruc V Risk Assessment test result and cancer diagnosis. Three sub-scales: with genetic testing for cancer Genetics Crit V (MICRA) distress (6 items); uncertainty (9 items) and positive risk specific experiences (4 items) Non- preference based Openness to Mesters et Eight statements: four refer to openness of discussion To assess openness of Rating scale Int R Discuss Cancer in al. (1997) in the family in general; two refer to openness of communication about cancer Index Con V the Family Scale discussion with the partner and two refer to openness (and cancer genetic test result) in Non-genetics Crit V (ODCFS) of discussion with the children. the nuclear family (partner and specific children) and the family of origin Non- (parents, siblings). Openness of preference discussion is related to a based theoretical model of coping with cancer stress. Patient Satisfaction Brain et al. 12-items with 3 dimensions: instrumental; affective; To assess patient satisfaction Rating scale Int R with Genetic (2000) procedural. with the genetic counseling Profile Counselling Shiloh et al. process. Genetics (1990) specific 88
  • 89. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Non- preference based Perceived personal Berkenstadt Nine items representing three dimensions of control: Personal control is defined as: Rating scale Int R control (PPC) et al. (1999) cognitive; behavioural and decisional. ’the belief that one has at one’s Index Cstruc V disposal a response that can Genetics Con V influence the aversiveness of an specific event. Non- preference based Perceived Risk of Brain et al. 2-items: what level of risk do you think you have and in To assess perceived personal Rating scale Int R Breast Cancer (1999) your opinion, what are your chances of getting breast risk of developing breast cancer. Profile Lerman et cancer compared with the average woman. Generic al. (1997) Non- preference based Perceptions of the Donovan & 14-item scale with two independent factors: To assess perceptions of the Rating scale Int R benefits, limitations Tucker perceptions of benefits and perceptions of benefits, limitations and risks of Profile and risks of genetic (2000) limitations/risks genetic testing for breast-ovarian Genetics testing Hughes et cancer risk. specific al. (1997) Non- 89
  • 90. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Lerman et preference al. (1996) based Lerman et al. (1997) Audrain et al. (1995) Profile of Mood McNair et 65-item questionnaire with six scales: tension/anxiety; To measure mood states in Rating scale Int R State (POMS) al. (1981) depression/dejection; anger/hospitality; vigor/activity; psychiatric outpatients and for Index Retest R fatigue/inertia and confusion/bewilderment. Brief assessing changes in such Non-genetics Face V version contains 17-items. patients. It is also used in non- specific patient populations. Non- preference based Prostate cancer Doukas 53-item attitude survey: 49 non-intent questions and 4 To explore what values and Rating scale Int R genetic screening (2004) questions to probe men’s expressed intent. Five expectations influence the Profile survey subscales: motivation; consequences; distress; intention of men to undergo Genetics positive expectations; intention genetic testing for prostate specific cancer risk Non- preference based Psychological Read et al. 50-items with five subscales (non-intrusiveness; To measure multiple dimensions Rating scale Int R 90
  • 91. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Adaptation to (2005) support; self-worth; certainty; self-efficacy) of psychological adaptation to Profile Con V Genetic Information genetic information to facilitate Genetics Scale (PAGIS) evaluation of the efficacy of specific counseling and supportive Non- interventions and to identify preference people at risk for coping based difficulties. Psychological Cockburn 12-items and three domains: emotional (5); social (2) To assess the psychological Rating scale Int R Consequences et al. (1992) and physical life (3). consequences of breast Profile Con V Questionnaire mammography on well-being Non-genetics Cstruc V (PCQ) specific Non- preference based Quality of Care Pieterse et 25-items on generic and 19-items on genetics-specific To measure the needs and Rating scale Int R Through the al. (2005) aspects of health care. preferences in genetic counseling Profile Con V Patients’ Eyes for hereditary cancer before their Genetics Cstruc V (QUOTE)-geneCA first consultation. specific Non- preference 91
  • 92. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a based Risk comprehension Stalmeier Six questions To assess risk comprehension Rating scale Int R and subjective et al. (1999) and subjective knowledge of the Index knowledge of women in the shared decision Genetics women in the making program specific shared decision Non- making program preference based Rosenberg Self- Rosenberg 10-item scale. Scores range from 0 to 6. Global measure of self-esteem Rating scale Int R Esteem Scale (1965) considered to be an indicator of Index Retest R Curbow & psychological adjustment. Self- Non-genetics Somerfield esteem has been defined as: ‘a specific (1991) favourable or unfavourable Non- attitude toward the self’. This preference measure was originally based developed to measure adolescents' global feelings of self-worth or self-acceptance. Satisfaction with Brain et al. 6-items: satisfaction with the decision To measure satisfaction with a Rating scale Int R Decision Scale (2005) medical decision. Profile Holmes- Developed in the context of Non-genetics 92
  • 93. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a Rovner et postmenopausal hormone- specific al. (1996) replacement therapy decisions. Non- preference based Satisfaction with Stalmeier 7 questions: satisfaction and support dimensions To measure the level of Rating scale Int R shared decision et al. (1999) satisfaction with the shared Index Cstruc V making program decision making program Genetics specific Non- preference based Self-rating Zung 20-items: psychic or affective; physiological or somatic; To measure measure, using self- Rating scale Int R Depression Scale (1986) psychomotor and psychological. rating and interviewer rating, Index Con V (SDS) depressive disorder. Non-genetics Face V specific Cstruc V Non- preference based Shared decision Stalmeier 4 questions To measure the acceptability of Rating scale Int R making program et al. (1999) the rationale for the shared Index rationale decision making program Genetics 93
  • 94. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a acceptability specific Non- preference based Spielberger State Spielberger 20-statements for the S-Anxiety scale that evaluate To measure anxiety. The STAI Rating scale Int R Trait Anxiety et al. (1970) how respondents feel ‘right now, at this moment’ and clearly differentiates between the Profile Retest R Inventory (STAI) and Marteau & 20-statements for the T-Anxiety scale that assess how temporary condition (state Non-genetics Face V state scale (STAI- Bekker respondents feel ‘generally’. anxiety) and the more general specific Con V State) (1992) and long-standing condition (trait Non- Cstruc V anxiety). A version has been preference Crit V adapted for use in children. based S I Spiritual Well-Being Ellison & 20-item: 10 items measure existential well-being To assess personal spiritual Rating scale Int R Scale (SWBS) Smith (EWB) and 10-items measure religious well-being meaning and satisfaction. Index Retest R (1991) (RWB). The scale gives three scores: total scale score Spiritual well-being has been Non-genetics Crit V Gioiella et (SWB); a score for RWB and EWB. The highest defined as: ‘the affirmation of life specific al. (1998) degree of SWB is 120 and 60 each for RWB and EWB. in a relationship with God, self, Non- community and environment that preference nurtures and celebrates based wholeness’. The scale may be 94
  • 95. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a useful in evaluating the impact of various forms of health interventions on subjective well- being of patients Subjective Quality of Dazord The domains considered are: functional life; social life; To assess subjective quality of Rating scale Int R Life Profile (SQLP) (1995) material life; spiritual life; unforeseen domains; global life in patients or healthy people Profile Retest R assessments; ability (or change); degree of and explore the various Non-genetics Crit V satisfaction; importance attributed; change anticipated; dimensions of quality of life. specific Cstruc V ability to cope; global measures. Divided into a core Subjective refers to the subject’s Non- and optional questionnaire: physical and psychological own inner experience rather than preference well-being; inter-individual and social relationships. The ‘objective’, which relates to based core questionnaire contains 33 items. The subjective aspects of everyday life (health weight is dependent on: the importance attributed to status to material each goal by the subject; his/her tolerance of the considerations). distance between his/her position and his/her goals and his/her ability to cope with this distance. Tennessee Self- Fitts (1965) 100 descriptive statements designed measure of the The scale is intended to Rating scale Int R Concept Scale individual’s concept of self. Provides scores for: summarize an individual's feeling Profile and Retest R physical self (physical appearance); moral-ethical self of self-worth, the degree to which index Cstruc V (feelings of being a good or bad person); personal self the self-image is realistic, and Non-genetics Crit V 95
  • 96. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a (sense of personal worth); family self (feeling of whether or not that self-image is specific adequacy as a family member); social self (self as a deviant one. The measure has Non- perceived in relation to others); self-criticism (tendency a version for children. preference to fake good) and a total score. based Utrechtse Coping Westbrook Five dimensions: confrontation versus avoidance; To evaluate coping strategies Rating scale Int R List (UCL) (1979) optimism versus realism; seeking versus not seeking such as: active coping, palliative Profile interpersonal help; fatalism versus positive orientation; coping, avoiding reactions, social Non-genetics control versus lack of control by the self. Dutch support seeking, depressive- specific adaptation of the Westbrook Coping Scale. regressive coping, expression of Non- emotions or anger and preference comforting ideas. based Worry Interference Trask Seven-item: disruptions in sleep, work, concentration, To assess the degree to which Rating scale Int R Scale (WIS) (2001) relationships, having fun, feeling sexually attractive, thoughts about breast cancer are Index Retest R meeting family needs and reproductive decisions. perceived as interfering with the Genetics Con V Additional items assess participants: abilities to speak respondents’ daily functioning. specific with their partners about their concerns, their partners Non- abilities to be understanding and frequency of preference participants’ worries about their children’s or based grandchildren’s chances of developing breast cancer. Embedded in a larger survey that assesses: perceived 96
  • 97. Outcome measure Primary Domains Purpose Type of Validation source (s) measure (reported)a risk; intent to undergo genetic testing and frequency of worry about getting breast cancer. a Coding for psychometric tests performed: Validity: face validity (Face V); content validity (Con V), construct (Cstruc V), criterion (Crit V); Reliability: internal reliability (Int R); test/retest (Retest R) Sensitivity to change: (S) Interpretability (I) 97
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  • 104. Zigmond AS, Snaith AP. The Hospital Anxiety and Depression Scale. Acta Psychiatrica Scandanavica 1983;67:361-70. Zung WK. Zung self-rating depression scale and depression status inventory. In: Sartorius, N., Ban, T. (Eds). Assessment of Depression. Berlin: Springer, 1986. Appendix 1: Search strategy for Medline # Search History 1 (Genetic adj4 screen$).tw. 2 (Genetic adj4 assessment).tw. 3 (Genetic adj4 evaluation).tw. 4 (Genetic adj4 laborator$).tw. 5 Non-directive couns$.tw. 6 (Genetic adj4 test$).tw. 7 (Genetic$ adj4 service$).tw. 8 Couns$.tw. 9 Genetic$.tw. 10 8 and 9 11 (Genetic$ adj4 cent$).tw. 12 Genetic$ clinic$.tw. 13 (Genetic$ adj4 register$).tw. 14 (Genetic$ adj4 advi$).tw. 15 Clinical genetic$.tw. 16 Genetic medicine$.tw. 17 Genetic risk$.tw. 18 Genetic information$.tw. 19 1 or 2 or 3 or 4 or 5 or 6 or 7 or 10 or 11 or 12 or 13 or 14 or 15 or 16 or 17 or 18 20 Patient-based outcome$.tw. 21 Patient-reported outcome$.tw. 22 Patient outcome$.tw. 104
  • 105. 23 Health status$.tw. 24 Health status indicator$.tw. 25 Quality of life.tw. 26 Functional status$.tw. 27 Subjective health status$.tw. 28 Health status assessment$.tw. 29 Disability scale$.tw. 30 Subjective health.mp. 31 Performance status$.tw. 32 (Outcome$ adj4 measure$).tw. 33 Outcome$.tw. 34 Effect$.tw. 35 Utility.tw. 36 Measure$.mp. 37 Success$.tw. 38 Impact$.tw. 39 Satisfaction.mp. 40 Participation.mp. 41 Patient.mp. 42 Consumer.mp. 43 39 or 40 44 41 or 42 45 43 or 44 46 ((public or consumer$ or patient$) adj3 (preference$ or opinion$ or choice$ or participat$)).tw. 47 Anxiety.tw. 48 Belief$.tw. 49 Depression.tw. 50 Adjustment.tw. 105
  • 106. 51 Cancer worry.tw. 52 (Understand$ adj4 risk$).tw. 53 worry.tw. 54 (Understand$ adj4 genetic$).tw. 55 (Recall adj4 risk$).tw. 56 (Knowledge adj4 risk$).tw. 57 Decision-making.tw. 58 Reproductive intention$.tw. 59 Reproductive behavio$.tw. 60 Screening intention$.tw. 61 Screening behavio$.tw. 62 (Family adj4 communicat$).tw. 63 (Interest adj4 genetic test$).tw. 64 (Interest adj4 screening).tw. 65 (Uptake adj4 genetic test$).tw. 66 (Uptake adj4 screening).tw. 67 Patient expectation$.tw. 68 Psychologic$.tw. 69 Psychosocial$.tw. 70 Psycho-social$.tw. 71 Assessment.tw. 72 Patient-communication.tw. 73 Patient communication.tw. 74 (Perce$ adj4 risk).tw. 75 Perceived personal control$.tw. 76 Satisfaction$.tw. 77 Elicit$.tw. 78 Perceived control.mp. 106
  • 107. 79 Personal control.mp. 20 or 21 or 22 or 23 or 24 or 25 or 26 or 27 or 28 or 29 or 30 or 31 or 32 or 33 or 34 or 35 or 36 or 37 or 38 or 45 or 46 or 47 or 48 or 49 or 50 or 51 or 52 or 80 53 or 54 or 55 or 56 or 57 or 58 or 59 or 60 or 61 or 62 or 63 or 64 or 65 or 66 or 67 or 68 or 69 or 70 or 71 or 72 or 73 or 74 or 75 or 76 or 77 or 78 or 79 81 19 and 80 82 Psychometric$.tw. 83 Validity.tw. 84 Reliability.tw. 85 Responsiveness.tw. 86 Effect size$.tw. 87 Sensitivity to change$.tw. 88 Reproducibility.tw. 89 Acceptability.tw. 90 Appropriat$.tw. 91 Precision.tw. 92 Interpretability.tw. 93 Feasibility.tw. 94 82 or 83 or 84 or 85 or 86 or 87 or 88 or 89 or 90 or 91 or 92 or 93 95 81 and 94 96 remove duplicates from 95 97 limit 96 to human 107