REPORT


           SURVEY OF GENETICS TEACHING LEADS
                   IN MEDICAL SCHOOLS




                          ...
2


    May 2003
3




                                               Table of contents


 SURVEY OF GENETICS TEACHING LEADS..................
4


4.5 Learning resources used......................................................................................22

4...
5




                        EXECUTIVE SUMMARY

See sections 5 and 6 below for a full summary.

The recommendations arisi...
6


1   INTRODUCTION

1.1 Background

On behalf of Dr Hilary Burton of the Cambridge Public Health
Genetics Unit and Profe...
7


Further the pilot interviews were used to gauge what degree of
consistency there might be between the medical schools ...
8


There was much variation in the responses to this question. How the
school organised its undergraduate medical curricu...
9




One interviewee had GMC objectives, while another used objectives
reported on by Professor Harris in 1990: this cour...
10




      “If there were problem based web resources within the
      UK, that would be great.”

And

      “Problem ba...
11


Seven of the nine interviewees asked this question said they did not
know whether there was a budget, although one of...
12




       Table 1Core basic genetics knowledge and skill covered

                                      Covered    Cov...
13


The first five items were covered and assessed by most, however
responses to the remaining basic genetics areas of th...
14




     Table 2Core clinical genetics knowledge and skill covered

                                  Covered    Covere...
15




>>>continued

                                  Covered    Covered
                                                ...
16


varied and not necessarily related to the year of study the student was
in.
Table 3Special Study Module topics

                                                                     Delivered        ...
18




>>>continued
                                                                  Delivered                         Cl...
19




>>>continued
                                                                 Delivered                         Cli...
4.3 Course structure/methods/learning resources

The type of curriculum of each school, how genetics is taught,
whether wi...
21




4.3.2 Structure of genetics learning

As with the curriculum type (above), the structure of genetics learning
was m...
22




The 5 ‘other’ responses were individual, although two mentioned
computer based learning.

              Table 6Basi...
23


respondents use presentations developed in-house at least sometimes,
4 accessed the internet (19%) and 2 used CD ROM ...
24




       Table 10Distribution of staff involved in teaching genetics

                                               ...
25




         School                         Host topic
         1:     Paediatrics, Oncology, Surgery, Adult Medicine
 ...
26


       •    First year onwards to different degrees
       •    Year 1 – data interpretation questions and extended
 ...
27


       through. We do not have input into (one centre’s)
       curriculum so will know what (the other centre) stude...
28


        Other*                                                             4        19
        Number of respondents ...
29


Comments by those who said the structure of medical course was a
very significant factor included:

   •   Move to sy...
30




                   Table 16What support would help?

                                                              ...
31




            Table 17Required characteristics of resources

                                       Very          Qui...
32


3.4    Participating in national development of the medical
       undergraduate programme

Table 18 shows that the m...
33


curriculum by the majority of the respondents. For clinical genetics
teaching, lectures were the commonest method of ...
34


and choose topics; able to be tailored to own needs and style, relevant
to core curriculum materials and free.

The m...
35


All nationally provided or recommended resources should be quality
assured.

The genetics leads themselves will be a ...
36




                      APPENDIX 1:
    PILOT TELEPHONE INTERVIEW SCHEDULE FOR MEDICAL
            SCHOOL GENETICS ED...
37


4.    What learning resources are used for genetics teaching in
     your school? E.g. Powerpoint presentations, CD R...
38


                            APPENDIX 2:
                       SURVEY QUESTIONNAIRE
TEACHING GENETICS TO UNDERGRADUAT...
39


                SECTION 1: BASIC CURRICULUM


Below is listed the essential core of knowledge and skills for
medical ...
40



10. Genetic heterogeneity

11. Parameters governing
population genetic screening

12. Developmental genetics:
select...
41



with cancer predisposition

25. Recognise the genetic and
environmental contribution to
multi-factorial conditions e...
42




26. Understand approaches
which can be used for the
diagnosis of genetic disease and
carrier detection

27. Underst...
43


III:-Special Study Modules



34. What Special Study Modules (SSMs) in genetics are offered in
your school?



      ...
44



Topic-based

Subject/specialty based

Mixture of the above (please specify)

………………………………………………………………………………………………………...
45



        Discussion classes

        Lab/practical work

        Demonstrations


Other (please specify)…… …………………………...
46



Social scientists

Other health care professionals

Other (please specify)
47




40. What learning resources do they use?        (Please indicate how
important each method is)


                  ...
48



Other (please write in)

……………………………………………………………………………………………………………



                                   ASSESSMENT
...
49


Other (please specify)

……………………………………………………………………………………………………………

……………………………………………………………………………………………………………
50




  43. What factors would help you to develop genetics teaching in
                           your school?




     ...
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  1. 1. REPORT SURVEY OF GENETICS TEACHING LEADS IN MEDICAL SCHOOLS Helen Jones Heather Owen Janet Grant Centre for Education in Medicine The Open University Walton Hall Milton Keynes MK7 6AA http://iet.open.ac.uk/oucem/
  2. 2. 2 May 2003
  3. 3. 3 Table of contents SURVEY OF GENETICS TEACHING LEADS................................................1 IN MEDICAL SCHOOLS.................................................................................1 EXECUTIVE SUMMARY..................................................................................5 1 INTRODUCTION............................................................................................6 1.1 Background.............................................................................................................6 2 RESEARCH DESIGN.....................................................................................6 2.1 Methods...................................................................................................................7 3 OVERVIEW OF ISSUES FROM INTERVIEWS WITH UNDERGRADUATE GENETICS LEADS...........................................................................................7 3.1 How genetics is covered in the school’s curriculum............................................7 3.2 Learning objectives................................................................................................8 3.3 Special Study Modules in Genetics.......................................................................9 3.4 Planned changes to course in the near future, help/barriers.............................9 3.5 Staffing..................................................................................................................10 3.6 Learning Resources..............................................................................................10 3.7 Involvement in development of curriculum materials in the future...............11 4 SURVEY RESULTS.....................................................................................11 4.1 Basic Curriculum.................................................................................................11 4.1.1 Basic Genetics.................................................................................................11 4.1.2 Clinical Genetics.............................................................................................13 4.2 Special Study Modules.........................................................................................15 4.2.1 Demand for SSMs...........................................................................................15 4.2.2 SSMs offered by medical schools...................................................................15 4.3 Course structure/methods/learning resources...................................................20 4.3.1 Curriculum type...............................................................................................20 4.3.2 Structure of genetics learning..........................................................................21 4.4 Teaching methods.................................................................................................21
  4. 4. 4 4.5 Learning resources used......................................................................................22 4.6 Staff involved in teaching genetics......................................................................23 4.7 Assessment............................................................................................................24 4.8 Curriculum changes planned in the next two years..........................................26 4.9 What would help medical schools develop genetics teaching? ........................27 4.10 What barriers to change are there?..................................................................28 4.11 What support would help? ...............................................................................29 4.12 What would those resources be like? ...............................................................30 4.13 Budget for resources..........................................................................................31 3.4 Participating in national development of the medical undergraduate programme..................................................................................................................32 5 SUMMARY OF FINDINGS...........................................................................32 6 DISCUSSION AND RECOMMENDATIONS................................................34 APPENDIX 1:.................................................................................................36 PILOT TELEPHONE INTERVIEW SCHEDULE FOR MEDICAL SCHOOL GENETICS EDUCATION LEADS...................................................................36 APPENDIX 2:.................................................................................................38 SURVEY QUESTIONNAIRE..........................................................................38
  5. 5. 5 EXECUTIVE SUMMARY See sections 5 and 6 below for a full summary. The recommendations arising from this study are: • Any national developments must be flexible enough to respond to local conditions and requirements. Any support offered to medical schools must be capable of being used in a variety of ways and contexts. • Any national initiative must not put further demands on medical schools or medical teachers, but should support their current arrangements. • A national resource centre, genetics facilitators and flexible educational resources should be established. This should include a regularly updated list of web-based resources, problem-based resources, case histories and ethical challenges. • All nationally provided or recommended resources should be quality assured. • Any national development should ensure that medical school genetic leads are fully involved in roles that suit their availability, interest and expertise.
  6. 6. 6 1 INTRODUCTION 1.1 Background On behalf of Dr Hilary Burton of the Cambridge Public Health Genetics Unit and Professor Neva Haites of Aberdeen University, a survey was conducted of all established medical schools in the UK, listed below. The survey forms part of a project sponsored by the Department of Health and The Wellcome Trust to develop a National Strategy for Education in Genetics for Health Professionals. The project will define the needs for assistance, support and resources for genetics education in all sectors of health professional education. Together with The Open University Centre for Education in Medicine, the project is making a special study of the activities and needs of teachers and students in medical schools, which are described in this report. Medical schools included in the survey were: University of Aberdeen University of Birmingham University of Bristol University of Cambridge University of Dundee University of East Anglia University of Edinburgh University of Glasgow Guy’s, King’s College and St St George’s Hospital Medical Thomas’ Hospital School University of Leeds Leicester Warwick University University of Liverpool University of Manchester University of Newcastle University of Nottingham University of Oxford Queen’s University, Belfast Royal Free and University College University of Sheffield University of Southampton St Andrews, Fife Imperial College University of Wales New medical schools not surveyed were: Brighton Hull Keele Peninsula 2 RESEARCH DESIGN The research design aimed to find out what happens now in medical schools’ genetics teaching, and further to find out what support genetics education leads might need. Initially, qualitative telephone interviews were used to ensure that the survey questionnaire to be applied included all the relevant issues and to check that the language and terms used were appropriate and understandable to the target group of medical school genetics leads.
  7. 7. 7 Further the pilot interviews were used to gauge what degree of consistency there might be between the medical schools for different aspects of genetics in the curriculum. The pilot interviews also allowed quantitative data to be gathered by setting up concrete response categories from the open interview questions. The pilot interviews were then used to fine tune the design of the more quantitative questionnaire schedule which could be sent to all 24 medical schools in the UK. 2.1 Methods Pilot telephone interviews were conducted with 10 medical school genetics leads. These were selected to provide geographical spread and with different curricula. The Open University Centre for Education in Medicine researcher, Helen Jones, conducted these qualitative interviews over a three-week period in February. All leads approached were willing to be interviewed and largely interested in the project with some extremely enthusiastic. The time taken to conduct the interviews varied between15 and 25 minutes. The project was briefly introduced and towards the end of the interview an opportunity for additional comments was given to each interviewee. The main questions asked are set out in the interview schedule at Appendix 1. From the pilot interviews additional relevant issues were extracted and added to the main questionnaire and further response categories were included. The main questionnaire was then emailed to the 24 medical schools (listed above) on 17th or 18th March 2003. Paper copies of the questionnaire were then sent to those who had not already returned them on 24th March. Those not returning questionnaires were chased by telephone on 28th and 31st March and 4th and 9th April. The final response rate was 88% with 21 of the 24 questionnaires returned completed. 3 OVERVIEW OF ISSUES FROM INTERVIEWS WITH UNDERGRADUATE GENETICS LEADS The following section covers the issues raised from the pilot interviews with ten medical school genetics leads carried out in February 2003. 3.1 How genetics is covered in the school’s curriculum ‘In what way is genetics covered in your school’s curriculum? E.g. as a course in its own right, as part of another course.’
  8. 8. 8 There was much variation in the responses to this question. How the school organised its undergraduate medical curriculum and the attitude of the interviewee to this varied. In one school where problem based learning methods were used entirely throughout each year, no changes were wanted by the genetics lead and no need for help or resources was expressed. Centrally organised materials might be difficult to use, as the course was multi-disciplinary and therefore genetic-specific materials would not be relevant. Another interviewee had solely lecture based courses and had heard about what other genetics leads were doing and was interested in exploring this further although problem-based learning materials would not be useful and the school had no intention of changing to this method. A further medical school also used only problem based learning, but this interviewee was frustrated because he felt the students did not learn as much as they had with the lecture based system, and that there was little flexibility. Two further interviewees expressed the wish that genetics be included right across the curriculum, although they had found that their colleagues did not necessarily support this integrated approach. To unravel the different ways genetics is included in the curriculum in the main questionnaire, this was split into separate questions which allow for ‘other’ explanations to be written in. The first question asks about what type of curriculum each school has, and then how genetics fits into the structure of the curriculum. These questions then lead on to questions about methods used to deliver the curriculum, including additional methods raised in the interviews: attending clinics; discussion classes; lab and practical work; and demonstrations. 3.2 Learning objectives ‘Do you have stated core and optional learning objectives?’ This question was added after the first two interviews. We asked whether interviewees had stated core and optional learning objectives. Most of the interviewees did have stated learning objectives, two had worked with Professor Haites to put together learning objectives, both of whom felt they were very good. One of these interviewees stated that with stated core learning objectives, they would be able to go to colleagues to put forward nationally agreed objectives in support of their case for genetics within the curriculum.
  9. 9. 9 One interviewee had GMC objectives, while another used objectives reported on by Professor Harris in 1990: this course had been redesigned specifically to ensure that the teaching covered these objectives. 3.3 Special Study Modules in Genetics All medical schools interviewed offered Special Study Modules that included genetics. However, some of the SSMs were genetics alone and some included genetics as part of other SSMs. There was variation in when the SSMs were offered, mostly in years 2, 3 or 5. For some, SSMs in genetics involved rotating through clinics. Alongside asking which departments run SSMs, the questionnaire therefore asked about which SSMs have a clinical component. One interviewee said students could do genetics-related SSMs but was unsure if students had, while another said one or two students had taken this option last year. We therefore asked how many students took each SSM last year, so that comparisons could be made across the medical schools. 3.4 Planned changes to course in the near future, help/barriers From the ten interviews, it was possible to define categories of response in relation to pathways and barriers to changing the course to include genetics. This question could then become closed, although an ‘other’ category was included to allow individual plans to be written in. Examples of planned changes identified during interviews were: “We will make big changes, we have a meeting next week, and plan to move towards problem based or web based material.” And “It is quite likely that we will make changes. We are appointing a second consultant in clinical genetics with fifty percent funding from the University. We may be able to increase teaching, particularly a genetics SSM.” Helping factors and barriers to change could also be defined more clearly. There did not seem to be any consensus about what would help or hinder. For some, the structure of genetics teaching within the school was the main obstacle to change. The attitude of colleagues in other departments to genetics teaching proved to be a further barrier for some. Examples of factors that would help changes were:
  10. 10. 10 “If there were problem based web resources within the UK, that would be great.” And “Problem based learning materials and distance learning would be very useful.” 3.5 Staffing “What members of staff are involved in teaching genetics? Basic scientists? Clinical teachers? Specialist genetics teachers etc?” Five of the ten interviewees stated whether the staff were NHS or University employed, with one adding that they were under no obligation to teach, but do. It would therefore be useful to ask in the survey questionnaire if staff are NHS or University employed. The small group sessions/problem based learning was often taught by “practising clinical geneticists, who might be nurses, midwives, etc”. A question could therefore be added asking whether additional staff are used for problem based learning/small group teaching, and if so, who they were. It transpired that genetics staff at medical schools were involved in teaching genetics for groups other than medical students. ‘Do you teach genetics to groups other than medical students?’ was added to the questionnaire. A wide range of other students were taught genetics, with most teaching postgraduates and science undergraduates. Other groups included: pharmacists; nurses, midwives and health visitors; vets; secondary school careers education; GPs; patient associations; dental students; pathology students; paediatricians; and other hospital staff. 3.6 Learning Resources There was a range of interest in centrally provided support materials for the genetics curriculum, allowing an extensive list of categories to be generated for the survey. Several wanted to be able to tailor any centrally provided materials, while others stressed the need for assessments to be included in the materials. “Does you school have a budget to buy materials in? IF YES: how much do you think you could spend?”
  11. 11. 11 Seven of the nine interviewees asked this question said they did not know whether there was a budget, although one of these thought there might be money available through SIFT. One interviewee said there was a dedicated budget for resources from the medical education department to which bids could be made. Another interviewee was more specific and said £400 to £500 was available per year for resources, for example, computer assisted learning packages, that students could access themselves. 3.7 Involvement in development of curriculum materials in the future There was a mixture of responses to the question ‘How would you like to be involved in the development of curriculum materials in the future?’ All were pleased to know that there might be materials developed, but many knew time constraints would limit how they could help. Two of the ten were prepared to become involved in development of materials, three were happy to pilot or review materials, three would be interested to know what was available, and three also offered to contribute resources they had already developed. The survey questionnaire was designed to allow for separate responses to development and review of materials, the responses ‘would like to know what is available’ and ‘other (please specify)’ were also added. The questionnaire is presented in Appendix 2. 4 SURVEY RESULTS 4.1 Basic Curriculum 4.1.1 Basic Genetics The list of essential core of knowledge and skills for medical genetics in undergraduate education, accepted by the Joint Committee on Medical Genetics, was given in the questionnaire and respondents were asked whether each item was ‘covered and assessed’, ‘covered but not assessed’, ‘variable’, ‘not covered’ or ‘planned for in the next year’. The number of respondents for each category column is marked in the appropriate box in Table 1 below. 21 questionnaires were returned. Responses were given to all basic genetics items, except by one respondent for questions 6 and 17. For item 14 one respondent said this was planned for in the next year.
  12. 12. 12 Table 1Core basic genetics knowledge and skill covered Covered Covered but Not and not Variable covered assessed assessed 1. Chromosomal basis of 17 4 inheritance (mitosis and meiosis) (81%) (19%) 2. Modes of inheritance (Mendelian and non-Mendelian) including penetrance and 20 1 expressivity including (95%) (5%) mitochondrial and complex multifactorial disorders 3. Mechanism of origin of 13 6 1 1 numerical chromosome (62%) (29%) (5%) (5%) abnormalities 4. Major types of structural 16 4 1 chromosome abnormalities and (76%) (19%) (5%) their basic implications 5. DNA as genetic material 18 3 (outline of replication, (86%) (14%) transcription and translation) 6. Use of DNA polymorphisms as 8 5 5 2 genetic markers (38%) (24%) (24%) (10%) 7. How mutations cause partial 15 5 1 or complete loss of function or (71%) (24%) (5%) gain of function 8. Types of DNA test (testing for a 11 6 3 1 specific mutation vs. scanning a (52%) (29%) (14%) (5%) gene for mutations) 9. Gene frequencies of common 6 9 5 1 recessive mutations (29%) (43%) (24%) (5%) 10. Genetic heterogeneity 10 7 2 2 (48%) (33%) (10%) (10%) 11. Parameters governing 7 6 6 2 population genetic screening (33%) (29%) (29%) (10%) 12. Developmental genetics: 6 2 7 6 selective transcription; (29%) (10%) (33%) (29%) differentiation; stem cells. 13. The clinical embryology of 5 7 3 6 human malformation syndromes (24%) (33%) (14%) (29%) 14. Epigenetic events including 6 6 5 3 imprinting (29%) (29%) (24%) (14%) 15. Principles of teratogenesis 4 3 7 7 (19%) (14%) (33%) (33%) 16. Evolution, natural selection 3 3 7 8 and selective advantage (14%) (14%) (33%) (38%) 17. History of eugenics 3 2 15 movement (14%) (10%) (71%)
  13. 13. 13 The first five items were covered and assessed by most, however responses to the remaining basic genetics areas of the curriculum were move diverse. 4.1.2 Clinical Genetics The list of essential core of knowledge and skills for medical genetics in undergraduate education, accepted by the Joint Committee on Medical Genetics relating to clinical genetics were given in the questionnaires and respondents were asked whether each item was ‘covered and assessed’, ‘covered but not assessed’, ‘variable’, ‘not covered’ or ‘planned for in the next year’. The number of respondents for each category column is marked in the appropriate box in Table 2 below. 21 questionnaires were returned. One respondent gave no answer to all items and item 3 was not answered by a further respondent. Items 28 and 29 were ‘planned for in the next year’ by one respondent. Of the 16 items, 7 were covered and assessed by more than half the medical schools: • Construct and interpret a family tree • Recognise basic patterns of inheritance • Have a clinical knowledge of several Mendelian disorders • Appreciate the risk of individuals suffering simple Mendelian disorders • Understand different forms of DNA testing • Have a clinical knowledge of the genetic factors associated with cancer predisposition • Recognise the genetic and environmental contribution to multi- factorial conditions Two further items were covered but not assessed by more than half [ethics and where to get genetics advice].
  14. 14. 14 Table 2Core clinical genetics knowledge and skill covered Covered Covered Not and but not Variable covered assessed assessed 18. Take a family history 9 (43%) 9 (43%) 2 (10%) 19. Construct and interpret a 1 (5%) 11 (52%) 8 (38%) family tree 20. Recognise basic patterns 17 (81%) 3 (14%) of inheritance 21. Appreciate the risk of individuals suffering simple 14 (67%) 6 (29%) Mendelian disorders 22. Have a clinical knowledge 15 (71%) 5 (24%) of several Mendelian disorders 23. Have a clinical knowledge of chromosomal disorders including translocations, 10 (48%) 8 (38%) 2 (10%) micro-deletions and the methods used to detect them 24. Have a clinical knowledge of the genetic factors 14 (67%) 4 (19%) 1 (5%) 1 (5%) associated with cancer predisposition 25. Recognise the genetic and environmental contribution to multi-factorial conditions e.g. 11 (52%) 7 (33%) 1 (5%) 1 (5%) congenital heart disease, cancer, diabetes and psychiatric illness 26. Understand approaches which can be used for the 10 (48%) 9(43%) 1 (5%) diagnosis of genetic disease and carrier detection 27. Understand different forms of DNA testing: prenatal diagnosis pre-implantation diagnosis 11 (52%) 7 (33%) 2 (10%) predictive testing as a diagnostic tool and appreciate when such testing may not be appropriate 28. Be able to interpret a simple DNA report and 8 (38%) 3 (14%) 3 (14%) 5 (24%) chromosome report 29. Be able to recognise cases with abnormal developmental 4 (19%) 10 (48%) 5 (24%) and dysmorphic features >>>>continues
  15. 15. 15 >>>continued Covered Covered Not and but not Variable covered assessed assessed 30. Be aware of current population genetic screening programs and guidelines for 3 (14%) 6 (29%) 8 (38%) 3(14%) the introduction of such programs 31. Be familiar with the practice of the genetic counselling clinic, its motives and methods including the principles of non-directive, non-judgemental counselling 5 (24%) 9(43%) 5 (24%) 1 (5%) and impact of genetic diagnosis on the extended family. Be able to communicate the concept of risk in a manner that can be understood by the patient 32. Know when and where to get genetic advice and 5 (24%) 12 (57%) 2 (10%) 1 (5%] information 33. Perceive major ethical 5 (24%) 12 (57%) 1 (5%) 1 (5%) issues in genetics 4.2 Special Study Modules 4.2.1 Demand for SSMs Respondents were asked “Is student demand for SSMs in genetics met?” and given the option of ticking “Demand greater than availability”, “Availability of SSMs about right” or “Availability exceeds demand”. Of the 17 who answered this question, the majority (10) said availability of SSMs in genetics was about right. Four said that demand was greater than availability and two said that availability exceeded demand. One other did not know. 4.2.2 SSMs offered by medical schools Table 3 below sets out for each of the 21 respondents, the title of the SSMs run in their school, the department, whether it had a clinical component and how many students approximately took that module last year. There were a variety of SSMs listed and a mixture of the year in which they were delivered, unfortunately a few respondents put the calendar year rather than student year in which the SSM was taken. The number of SSMs with a clinical component was also
  16. 16. 16 varied and not necessarily related to the year of study the student was in.
  17. 17. Table 3Special Study Module topics Delivered Clinical No. of students taking this School Title Department in year component? module last yr 1 No SSMs listed - - - - Genetics topics form part of some of the projects in SSM - - - - 1-7 2 SSM8 – self-directed SSM on a topic chosen by the student 5 - Yes 1 in accordance with his/her learning needs 3 Title is tailored to request - - - - 4 Sense & Science in Clinical Investigation 5 Haematology Yes 40 Biomedicine/ The analysis of single nucleotide polymorphisms 1 No 4 Biochemistry 5 Genetic screening programmes 1 No 1 Human Genome Project and DNA sequencing 1 No 1 UK Survey of Genetic Counselling 4 Genetics Yes 1 6 Patient survey of cancer genetics counselling 4 Genetics Yes 1 Clinical Self directed SSMs in clinical genetics 2,3,4,5 Yes 6 genetics Clinical / Molecular genetics of inherited disorders 2 molecular No 30 7 genetics Clinical / Molecular genetics of inherited disorders 3 molecular No 30 genetics 8 Genetics SSM (run as generic project-based SSM) - Genetics Yes 10 (Varies widely from year to year) 9 Chimeras 2 - - 3 How can sexual differentiation go wrong in humans? 2 - - 3 Clinical 10 Clinical & Molecular Genetics 4 Yes 2 genetics >>>continues
  18. 18. 18 >>>continued Delivered Clinical No. of students taking this School Title Department in year component? module last yr 11 Clinical Genetics - Medical genetics Yes ≈10 "Options" 7 week attachments 4 Genetics service Yes 3 Institute 12 Human Intercalated BMedSci Year - Variable 0 Genetics / General service Clinical Genetics 5 Genetics Yes 2 13 Human rights – genetics (elective research project) 3 Genetics No 1 Options in Cell biology, Developmental biology, Pathology, Biochemistry: the Molecular Basis of Disease, Cellular Anatomy & Yes: but no physiology, and Physiology of Epithelia (These options Genetics, 15 patient contact transport diseases) and some 7 other options, all of Biochemistry which involve some consideration of genetics Physiology Yes, in many 14 cases. Can also All departments involve patient Individual dissertations (150 per year) a very large and local contact and 20 fraction of which involve genetics these days research handling of institutes clinical samples and data Clinical genetics 2002/3 Med genetics Yes 15 Cancer Genetics 2002/3 Med genetics Yes 20 15 Breast cancer 2002/3 Surgery Yes 25 Ovarian cancer 2002/3 Oncology Yes 20 Institute of Ophthalmology 5 Yes Ophthalmology. Psychiatric genetics 5 Psychiatry Yes 16 Leukaemia diagnosis and treatment 5 Haematology Yes Sickle Cell Disease 5 Haematology Yes/No Diagnosis of Haematological Malignancy 5 Haematology Yes >>>continues
  19. 19. 19 >>>continued Delivered Clinical No. of students taking this School Title Department in year component? module last yr Genetically Modified Crops 1 Biology no Animal cloning 1 Biochemistry no Molecular genetic basis of primary ciliary dyskinesia 1 Medicine no Molecular genetics of the neural lipofuscinoses 1 Medicine No Genetic make up and responses to drugs 2 Medicine No 17 elective/project 4 Clinical genetics Yes 0 last year, 3 this year Human 4th year project 4 - 5? 18 Genetics Intercalated BSc 4 “ No 1 Cystic fibrosis 2002/3 Medicine No 1 Genetic modifiers of breast cancer risk - - Yes 1 19 Frequency of non breast-ovarian cancers in BRCA1/2 - Pathology No 1 mutation families Surgical 20 Cancer syndromes 2002/3 Yes sciences Robinow? Syndrome mutation analysis Genetics Yes Tuberous sclerosis Genetics Yes In total about 10 students MRC Human Embryology Embryology Yes Unit 21 Varies a lot year to year – last year rather few Medical Clinical and laboratory aspects of a genetic disorder 2 Yes 10 Genetics Medical Genotype-phenotype analysis 5 No 1 Genetics
  20. 20. 4.3 Course structure/methods/learning resources The type of curriculum of each school, how genetics is taught, whether with other subjects, or stand-alone were examined. Initial interviews with genetics leads had shown many different structures of genetics learning among the group. This report then turns to resources used, before, in the next section, looking at resources the different medical schools asked for. 4.3.1 Curriculum type Table 4 below summarises the predominant curriculum type of the 21 medical schools who completed the survey. Almost half the respondents (10) have a mixture of the different types of curriculum listed. Table 4Predominant type of curriculum n % Mainly problem-based 4 19 Systems based 5 24 Community orientated Topic based 2 10 Subject/specialty based Mixture of the above 10 48 Total 21 100 Comments from the 9 schools that reported a mixed curriculum were as follows: 1: System based approach for didactic teaching with PBL woven throughout 2: Systems based/community-orientated - GP involvement from Y1/specialty based in 4th and 5th years 3: Varies throughout course, some systems based some subject based 4: PBL and systems based curriculum 5: Themes, but introduced to community in their first year 6: Systems-based (and community oriented) 7: The pre-clinical course uses all the above to varying degrees. Examining is subject based, but the subjects are very widely cast: curriculum and timetabling is systems-based. There is a little teaching in Gen. Practice. Problem-based teaching is used extensively in college tutorials Also, extensive practical classes 8: course covers the first three years of the med curric 9: Topic, 2 PBL. Moving to new combined curric. with PBL, also have grad entry programme which is all PBL
  21. 21. 21 4.3.2 Structure of genetics learning As with the curriculum type (above), the structure of genetics learning was most commonly a mixture of stand alone genetics and integrated with other subjects, which was selected by 11 of the respondents. A similar number ‘covered genetics as a separate subject’ (5) and ‘genetics was largely multi-disciplinary, integrated across the departments’ (4). Table 5The structure of genetics learning n % Genetics covered as a separate 5 24 subject Mixture of stand-alone genetics & 11 52 integrated with other subjects Genetics is largely multi- disciplinary, integrated across 4 19 departments Other [mixture of choices 1 and 3] 1* 5 Total 21 100 Explanatory comments made by respondents were as follows: From those who said genetics was a separate subject: • : Basic lectures as a block within "Life Cycle" theme • : several modules involved • : but move towards greater integration From those who said they had a mixture • 4: Increasing vertical and horizontal integration planned 2004 • 5: Not much integration • 6: Very little time given to stand alone genetics, only have 1½ days of pure clinical genetics. Many lectures given throughout the year and within different modules 4.4 Teaching methods Respondents were asked: “What methods are used to deliver the curriculum (tick all that apply)” Table 6 below shows that lectures were used by all the respondents in basic science teaching. Small group teaching (13), self-directed learning (14) and problem based learning assignments (11) were all methods used to deliver the curriculum by the majority of the respondents.
  22. 22. 22 The 5 ‘other’ responses were individual, although two mentioned computer based learning. Table 6Basic science teaching methods n % Lectures 21 100 Small group teaching 13 62 Self-directed learning 14 67 Personal or group project work 8 38 Problem based learning 11 52 assignments Clinic attendance 4 19 Discussion classes 8 38 Lab/practical work 5 24 Demonstrations 4 19 Other 5 24 Total number of respondents 21 100 Again, with the clinical curriculum lectures were the commonest method of delivery of the curriculum (81%), small group teaching (67%), self-directed learning (52%) and personal or group project work (48%) were the next most commonly used methods [see Table 7]. Any support offered to medical schools must there for be capable of being used in a variety of ways and contexts. Table 7Clinical genetics teaching methods n % Lectures 17 81 Small group teaching 14 67 Self-directed learning 11 52 Personal or group project work 10 48 Problem based learning 8 38 assignments Clinic attendance 9 43 Discussion classes 4 19 Lab/practical work 2 10 Demonstrations 3 14 Other 4 19 No answer 3 14 Total 21 100 4.5 Learning resources used Resources developed by teachers and not shared with others were used by all for didactic materials/presentations. Although 67% [14] of
  23. 23. 23 respondents use presentations developed in-house at least sometimes, 4 accessed the internet (19%) and 2 used CD ROM based material (10%). Table 8 Didactic material/presentation Frequently Used Used Not used No used sometimes infrequently at all answer Resources developed by individual teachers 19 2 themselves and not shared (90%) (10%) with others Presentations developed in- 4 10 4 2 1 house and used by various (19%) (48%) (19%) (10%) (5%) members of staff Presentations accessed 3 1 5 8 4 from the internet (14%) (5%) (24%) (38%) (19%) CD-ROM based material or 1 1 4 11 4 other electronic resources (5%) (5%) (19%) (52%) (19%) bought from elsewhere With clinical materials, resources most commonly used, at least sometimes, were resources developed by teachers and not shared (16/76%). A large percentage use presentations developed in-house (14/69%). Only 1 respondent frequently used materials from the internet or CD ROMs. Table 9 Clinical materials (e.g. case histories, resources for problem-based learning) Not Frequently Used Used No used at used sometimes infrequently answer all Resources developed by 13 3 1 1 3 individual teachers themselves (62%) (14%) (5%) (5%) (14%) and not shared with others Presentations developed in-house 9 5 2 2 3 and used by various members of (43%) (24%) (10%) (10%) (14%) staff Presentations accessed from the 1 8 8 4 internet (5%) (38%) (38%) (19%) CD-ROM based material or other 1 2 3 10 5 electronic resources bought from (5%) (10%) (14%) (48%) (24%) elsewhere 4.6 Staff involved in teaching genetics Respondents were asked: ‘How many members of staff are involved in delivering genetics teaching?’ Table 10 below shows the number of schools with numbers of different categories of staff from the NHS and Universities.
  24. 24. 24 Table 10Distribution of staff involved in teaching genetics Specialist Other health Number of Basic Clinical Social genetics care staff Scientists Teachers scientists professionals teachers NHS Uni NHS Uni NHS Uni NHS Uni NHS Uni 1 6 3 2 2 1 3 - - - - 2 1 5 5 3 - 4 - - 4 - 3 3 - 1 3 - - - - - 1 4 - 2 2 1 - 1 - - - - 5 or more 3 5 4 1 3 - - 3 - No answer / 8 6 7 11 17 13 21 21* 14 20 none * One respondent said social scientists were involved in delivering lectures and small group teaching. It can be seen that basic scientists and clinicians are the most common teachers of genetics. Specialist genetic teachers are relatively rare. 4.7 Assessment Responses to questions about the assessment of genetics are shown in Table 11 below. In 71% of schools, genetics is assessed as part of other topics. In one third of schools, the subject is assessed in its own right. In one fifth of schools, genetics questions are marked by a genetics specialist. Table 11Assessment of genetics learning Number of schools [%] Genetics is assessed as part of other topics 15 [71%] Genetics is assessed as a subject in its own 7 [33%] right Where genetics is assessed, the question is 4 [19%] marked by a genetics specialist1 Genetics is only assessed as part of an SSM 2 [9%] No answer 1 [5%] Where genetics is assessed as part of other host topics, the specified courses for each medical school were highly varied, as follows: 1 Calculated by adding 3’s in ‘assess’ & ‘genspec’ together
  25. 25. 25 School Host topic 1: Paediatrics, Oncology, Surgery, Adult Medicine 2: Growth & reproduction system' 3: First unit entitled "being a doctor being a patient”. Haematology – 3rd unit, Gastroenterology and Reproduction. 4: There are genetic questions in MB2, MB3 and MB4 5: Biomedical Science year 2 (mostly pathology) 6: Some key genetics questions set 7: Problem/core based course with specific questions in MCQs and 'cases' relating to genetics 8: Biochemistry and medical genetics (includes mol. gen) and where appropriate in all other subjects in context 9: 1st and final year assessments 10: As part of 'Reproduction, Development and Genetics' and 'Foundations of Health and Disease' modules 11: As part of 1st year MCQ exam 12: the genetic lecture slots are accommodated with the CNS and cardiovascular course modules as a stand- alone lecture course. There is a lecture on neurogenetics, but this is coincidence that it is within the CNS course. 13: Cellular and Molecular Medicine 14: Have a quiz after the 1½ teaching day session as part of child health module. Have genetic questions in other firm assessments & in finals exams. 15: In various system-based panels "exams" eg Development, Growth and Reproduction Table 12 shows that there is great variability in the timing of assessments involving genetics. Table 12Year in which genetics is assessed: Year Number of schools 1 1 2 9 3 3 4 3 5 3 Descriptive comments included: • It is assessed through coursework such as case discussions and as a component of broader multiple choice exams.
  26. 26. 26 • First year onwards to different degrees • Year 1 – data interpretation questions and extended matching items questions. Year 4 – MCQs and data interpretation. A panel does the data interpretation questions – we should all be able to mark all questions, a geneticist is on the panel. As we are altogether if there is a query a relevant specialist should be on hand! • 1 and 2 plus some SSMs in later years • It always feels as if the assessment is in someone else’s control – were asked for 1 or 2 questions to go into a paper but we have no input into determining the ways in which genetics is assessed. • Variable – at end of child health module and in finals exams 4.8 Curriculum changes planned in the next two years Table 13 shows that 3 schools reported a future increase in specific genetics teaching and staff for that, while 7 intend more inclusion of genetics in other courses. No more assessment questions in genetics were envisaged. Table 13Curriculum changes n % Move towards problem based learning 5 24 Increase in specific dedicated genetics 3 14 teaching More inclusion of genetics in other 7 33 courses Increased staffing for genetics teaching 3 14 Not decided yet, but under review 4 19 More assessment questions in genetics - Other 9 43 No answer 1 5 Number of respondents 21 100 The other specified curriculum changes planned in the next 2 years were described as: • Continuous assessment of course material and questions • Up to 290 students means that resource days will be abandoned and we will contribute to a 12 week module where all students come together at beginning of 3rd year. We are being asked to develop cases to put on web, likely that we will not be able to do small groups with this number of students so there will be a return to didactic teaching and cases on the net for them to work
  27. 27. 27 through. We do not have input into (one centre’s) curriculum so will know what (the other centre) students get but not those from (the first centre) – something I should pursue more strenuously … did make some enquiries but … • In the next year all the 1st/2nd year teaching will be integrated into a "Clinical Laboratory Sciences" spine • I consider that we provide good and broad teaching and assessment in genetics: and we have done so for many years. The genetics content of all teaching is naturally increasing all the time • Move towards teaching in semesters; this may squeeze the time available to teach genetics which would be retrograde step (the reduction in time) but would be restricted. • Current practice in genetics teaching is derived from a major curricular review four years ago and has been modified over the past three years to a point where we are reasonably satisfied. We are extremely fortunate in having a three year programme that leads to the conventional third year of an MB ChB course – ie we have an extra year to devote to medical sciences. This allows us to devote adequate time to subjects such as genetics. • We are pushing for more assessment questions in genetics 4.9 What would help medical schools develop genetics teaching? Table 14 shows that more than half the respondents would appreciate more staff, curriculum time, and/or a national resource centre. Almost as many [10] wanted money for resources. Over one third wanted links with genetics facilitators and/or teaching materials. However, this last finding should be interpreted in the light of Table 15 which shows that lack of time to develop resources is a prior concern and that resources are required. Table 14Developing genetics teaching n % Teaching materials 8 38 Links with regional &/or national genetics teaching facilitators who could offer advice & 9 43 assistance A national resource centre 11 52 More staff 12 57 More money for resources 10 48 Curriculum time 11 52
  28. 28. 28 Other* 4 19 Number of respondents 21 100 Other descriptive comments were made: • A new senior lecturer has just been appointed • Both the medical faculty and the medical genetics/genetics departments are happy with the current level of genetics learning. This is also reflected by student feedback. • More motivational participation from NHS Consultants • Any of this would help, of course: but we are well provided with genetics specialists • More awareness of its importance from those teaching other aspects of the curriculum • If central resources were available only with payment of fee, then more money would help. Currently, underfunding is not a problem. Funding and staffing levels are currently not a problem whilst our course is primarily lecture based. If there was a move to small group/seminar teaching then we could not accommodate this with current staff. Thus staffing levels are relative to teaching method. • Staff needed = admin staff. 4.10What barriers to change are there? Table 15 shows that the main barriers to change were identified as lack of time to develop resources, an already overloaded curriculum, staffing levels, and genetics not being seen as a priority by colleagues. Table 15Barriers to change Very Quite Not very Not at all No answer significant significant significant significant 4 4 6 3 4 Structure of medical course (19%) (19%) (29%) (14%) (19%) Curriculum already 8 8 4 1 - overloaded (38%) (38%) (19%) (5%) Genetics not seen as a 3 9 3 4 2 priority by colleagues (14%) (43%) (14%) (19%) (10%) Lack of resources to 6 6 3 3 3 champion changes and (29%) (29%) (14%) (14%) (14%) developments in genetics 9 5 5 1 Staffing levels 1 (43%) (24%) (24%) (5%) Lack of time to develop 10 7 3 1 - resources (48%) (33%) (14%) (5%)
  29. 29. 29 Comments by those who said the structure of medical course was a very significant factor included: • Move to system based learning risks fragmentation of genetic teaching • Systems based course does not allow genetics to be taught as an identifiable discipline. Many aspects of genetics require some clinical knowledge: our lectures are timetabled for years 1 and 2, a time when students have little clinical experience. • Very ‘organised’ no time slots left. • System Panel-based teaching, rather than subject-based teaching, is actually a barrier to change Comments by those who said the structure of medical course was a quite significant factor included: • Allocated slots • Increased emphasis on applied science at expense of core foundation knowledge • Limited by structure of problem-based course 4.11What support would help? Table 16 shows that medical school genetics leads would find many things helpful, in particular: • An updated list of resources on the web that you could look at and choose from; • Centrally developed curriculum resources • Problem-based material • Case histories and ethical issues. Descriptive comments included: • We already recommend certain websites which are excellent. Tutors and students also ‘unearth’ good websites from time to time. This is very helpful because trawling through a lot of indifferent or positively harmful material on the web is very time-consuming. • Would be helpful where genetics low priority • Core curriculum as guidelines helpful, not if restrictive. Central materials extremely helpful
  30. 30. 30 Table 16What support would help? Not at Very Quite Not very No all helpful helpful helpful answer helpful An updated list of resources on the web 11 7 2 1 - that you could look at and choose from (52%) (33%) (10%) (5%) Centrally developed curriculum 8 10 3 - - resources (38%) (48%) (14%) 6 5 5 5 Lectures with slides - (29%) (24%) (24%) (24%) 12 7 2 Problem-based material - - (57%) (33%) (10%) Distance learning/self-instructional 8 7 4 2 - materials (38%) (33%) (19%) (10%) 12 6 3 Case histories and ethical issues - - (57%) (29%) (14%) 11 3 6 1 List of websites for students - (52%) (14%) (29%) (5%) 6 7 5 2 1 SSM ideas and materials (29%) (33%) (24%) (10%) (5%) 8 7 5 1 Assessments - (38%) (33%) (24%) (5%) 8 9 4 Case studies - - (38%) (43%) (19%) 6 6 6 1 2 Centralised core curriculum (29%) (29%) (29%) (5%) (10%) 2 8 9 1 1 Textbooks (10%) (38%) (43%) (5%) (5%) 3 9 7 2 Supplementary materials - (14%) (43%) (33%) (10%) 3 8 9 1 Support on teaching methods - (14%) (38%) (43%) (5%) 6 8 6 1 Networking with other genetics leads - (29%) (38%) (29%) (5%) Having a genetics teaching adviser in 1 3 11 4 2 the region (5%) (14%) (52%) (19%) (10%) Having a national genetics teaching 2 12 5 2 - adviser (10%) (57%) (24%) (10%) 4.12What would those resources be like? More than half the respondents attributed high importance to resources that would be known to be regularly updated; formally validated by scientists, geneticists and other clinicians; ability to pick and choose topics; able to be tailored to own needs and style, relevant to core curriculum materials and free.
  31. 31. 31 Table 17Required characteristics of resources Very Quite Not very Not at all No important important important important answer 15 5 1 Known to be regularly updated - - (71%) (19%) (5%) Formally validated by scientists, 15 5 1 - - geneticists and other clinicians (71%) (24%) (5%) 9 7 4 1 Availability of assessment options - (43%) (33%) (19%) (5%) 15 5 1 Ability to pick and choose topics - - (71%) (24%) (5%) 11 6 3 1 Relevant core curriculum materials - (52%) (29%) (14%) (5%) 4 10 6 1 Supplementary to core curriculum - (19%) (48%) (29%) (5%) Able to be tailored to own needs 17 3 1 - - and style (81%) (14%) (5%) Technical aspects (e.g. use of 4 7 9 1 particular computer programmes to - (19%) (33%) (43%) (5%) access) Availability of continuing 4 10 6 1 - professional support to educators (19%) (48%) (29%) (5%) 9 7 3 2 Low cost - (43%) (33%) (14%) (10%) 11 4 6 Free - - (52%) (19%) (29%) 4.13Budget for resources The importance of cost of materials was highlighted in response to the question concerning budgets, as follows Do not Yes No know Does your school have a budget to 9 2 10 buy materials in? (45%) (10%) (50%) Some respondents commented on how much they thought they could spend: • £100s rather than £1000s • Series of grants for departments to develop their own online resources • Don’t know, but not much • Varies from year to year • £500 • Small, not sure • Not a lot
  32. 32. 32 3.4 Participating in national development of the medical undergraduate programme Table 18 shows that the medical school genetics leads were willing to be involved in national development of genetics education in medical schools. Observer and user was the most popular role [15], followed by reviewing pilot materials [14] but more than half the respondents were willing to become involved in every type of activity suggested. Table 18Involvement in national development of genetics education No Yes No Possibly answer 15 1 4 1 Observer and user (71%) (5%) (19%) (5%) 11 4 4 2 Actively involved in development (52%) (19%) (19%) (10%) 14 2 3 2 Review/pilot new materials (67%) (10%) (14%) (10%) Involved in the development of an 12 4 3 2 alliance to promote genetics education (57%) (19%) (14%) (10%) 12 1 7 1 Would like to know what is available (57%) (5%) (33%) (5%) Able to contribute some resources 11 4 5 1 already developed (52%) (19%) (24%) (5%) 5 SUMMARY OF FINDINGS The survey of medical schools has shown that aspects of genetics are present in all curricula, and delivered by a wide variety of departments, but that this provision is varied and patchy. SSMs in genetics are available in all schools and in most provision is not less than demand. Genetics teaching is delivered against a background of a rich variety of curriculum models, ranging across PBL, systems and topic-based courses. But a mixed model was the most common. The structure of genetics learning was most commonly a mixture of stand alone genetics and integrated with other subjects. However, in 5 schools, genetics is taught in its own right and in 4 schools as part of a multidisciplinary approach. There is also a rich variety of teaching methods in genetics. Lectures were used by all the respondents in basic science teaching. Small group teaching (13), self-directed learning (14) and problem based learning assignments (11) were all methods used to deliver the
  33. 33. 33 curriculum by the majority of the respondents. For clinical genetics teaching, lectures were the commonest method of delivery of the curriculum (81%), small group teaching (67%), self-directed learning (52%) were the next most popular. Any support offered to medical schools must therefore be capable of being used in a variety of ways and contexts. In both didactic and clinical teaching, the predominant resources are made in-house, rarely shared between teachers. The use of internet and other electronic resources is rare. Basic scientists and clinicians are the most common teachers of genetics. Specialist genetic teachers are relatively rare and social scientists are not reported as being involved at all. In 71% of schools, genetics is assessed as part of other topics. In one third of schools, the subject is assessed in its own right. In one fifth of schools, genetics questions are marked by a genetics specialist. 3 schools reported a future increase in specific genetics teaching and staff for that, while 7 intend more inclusion of genetics in other courses. No more assessment questions in genetics were envisaged. Half the respondents would appreciate more staff, curriculum time, and/or a national resource centre. Almost as many [10] wanted money for resources. Over one third wanted links with genetics facilitators and/or teaching materials. More than half the respondents would appreciate more staff, curriculum time, and/or a national resource centre. Almost as many [10] wanted money for resources. Over one third wanted links with genetics facilitators and/or teaching materials. The main barriers to change were identified as lack of time to develop resources, an already overloaded curriculum, staffing levels, and genetics not being seen as a priority by colleagues. Medical school genetics leads would find many things helpful, in particular: • An updated list of resources on the web that you could look at and choose from • Centrally developed curriculum resources • Problem-based materials • Case histories and ethical issues. More than half the respondents attributed high importance to resources that would be known to be regularly updated; formally validated by scientists, geneticists and other clinicians; ability to pick
  34. 34. 34 and choose topics; able to be tailored to own needs and style, relevant to core curriculum materials and free. The medical school genetics leads were willing to be involved in national development of genetics education in medical schools. Observer and user was the most popular role [15], followed by reviewing pilot materials [14] but more than half the respondents were willing to become involved in every type of activity suggested. 6 DISCUSSION AND RECOMMENDATIONS The survey of medical schools has suggested that genetics education in the medical school curriculum is developing but in ways specific to each school. Aspects of genetics are present in all curricula, and delivered by a wide variety of departments, but that this provision is varied and patchy. Given the variety of curriculum models and local conditions, this is perhaps to be expected. Any national developments must be flexible enough to respond to local conditions and requirements. Any support offered to medical schools must be capable of being used in a variety of ways and contexts. Medical school leads often feel that they lack time, staff and resources to develop genetics teaching. Any national initiative must not put further demands on medical schools or medical teachers, but should support their current arrangements. However, the genetics leads wanted a national resource centre, links with genetics facilitators and available learning materials. Such developments would lead to an increased profile for genetics in the curriculum, as well as a central focus to support local development. Staff and resources may well follow, in parallel with developments in the service for which medical students are being prepared and on which medical schools draw for teachers and experience. A national resource centre, genetics facilitators and flexible educational resources should be established. This should include a regularly updated list of web-based resources, problem-based resources, case histories and ethical challenges. Respondents were clearly aware of quality assurance issues in relation to national educational resources and recommended quality assurance measures.
  35. 35. 35 All nationally provided or recommended resources should be quality assured. The genetics leads themselves will be a valuable support to any such national development. Any national development should ensure that medical school genetic leads are fully involved in roles that suit their availability, interest and expertise.
  36. 36. 36 APPENDIX 1: PILOT TELEPHONE INTERVIEW SCHEDULE FOR MEDICAL SCHOOL GENETICS EDUCATION LEADS 1. Does your school offer Special Study Modules [SSM] in genetics? IF NO: Why not? Then go to question 2. IF YES: Are these stand-alone [that is, specifically about genetics as such] or just one aspect of a wider subject? What is the uptake of genetics SSMs? __________________________________________________________________ 2. In what way is genetics covered in your schools’ curriculum? E.g. as a course in its own right, as part of another course. IF IT’S A COURSE IN ITS OWN RIGHT: What is the course called? In which year is it taught? How is the course organised? i.e. what teaching methods are used: lectures, clinics, PBL cases, lab work etc? How many hours are given to the course? IF GENETICS IS PART OF ANOTHER COURSE/S: What course[s] does genetics feature in? In which year is it/are they taught? How is the genetics component organised? i.e. what teaching methods are used: lectures, clinics, tutorials, PBL cases, project work, lab work etc? How many hours are given to the genetics component of the course[s]? 3. What members of staff are involved in teaching genetics? Basic scientists? Clinical teachers? Specialist genetics teachers etc? How many of each type are involved?
  37. 37. 37 4. What learning resources are used for genetics teaching in your school? E.g. Powerpoint presentations, CD ROMS, web- based materials, problem cases, etc. AND 5. Where does each type come from? E.g. made by teachers themselves, borrowed from other schools, bought from specialist sources; downloaded from the internet. 6. Do any of your learning resources come from abroad? IF YES: where from? And in what proportion? IF NO: why do you not use resources from abroad e.g. the USA? 7. Are you likely to change or develop your course in the near future? IF YES: what changes will you make? 8. What factors/resources would help you make the changes you want to see? 9. What will be the main barriers to change? 10.If it were possible to have some nationally organised central support to your genetics curriculum, what would be helpful? E.g. Lecture/presentations on PowerPoint, problem-based learning materials, distance learning/self-instructional materials, textbooks, electronic resources etc 11.What features would make you feel confident to use such centrally provided resources? 12.Does your school have a budget to buy materials in? IF YES: how much do you think you could spend? 13.How would you like to be involved in the development of curriculum materials in the future?
  38. 38. 38 APPENDIX 2: SURVEY QUESTIONNAIRE TEACHING GENETICS TO UNDERGRADUATE MEDICAL STUDENTS This questionnaire aims to establish current status and to explore support needs for teaching genetics in the medical school curriculum. On behalf of Dr Hilary Burton of the Cambridge Public Health Genetics Unit and Professor Neva Haites of Aberdeen University, we invite you to complete this questionnaire which has been delivered to all medical schools in the UK. This survey forms part of a project sponsored by the Department of Health and The Wellcome Trust to develop a National Strategy for Education in Genetics for Health Professionals. Your responses will remain confidential, and only unattributable, aggregated responses will form the basis of any future publication. It should take around ten minutes to complete, there are four sections. We would like to thank all those medical school genetics leads who helped to develop this questionnaire. Please complete and return the questionnaire by Friday 28 March 2003 in the attached reply paid envelope. If you have any queries about this questionnaire please contact Helen Jones: Tel: 01908 653776 Fax: 01908 659374 Email: h.jones@open.ac.uk Thank you! Name School
  39. 39. 39 SECTION 1: BASIC CURRICULUM Below is listed the essential core of knowledge and skills for medical genetics in undergraduate education, accepted by the Joint Committee on Medical Genetics. Please indicate to what extent each is addressed in your curriculum. I - Basic genetics PLEASE TICK THE APPROPRIATE COLUMN Planned Covered Covered Not for in and but not Variable covered the next assessed assessed year 1. Chromosomal basis of inheritance (mitosis and meiosis) 2. Modes of inheritance (Mendelian and non-Mendelian) including penetrance and expressivity including mitochondrial and complex multifactorial disorders 3. Mechanism of origin of numerical chromosome abnormalities 4. Major types of structural chromosome abnormalities and their basic implications 5. DNA as genetic material (outline of replication, transcription and translation) 6. Use of DNA polymorphisms as genetic markers 7. How mutations cause partial or complete loss of function or gain of function 8. Types of DNA test (testing for a specific mutation vs. scanning a gene for mutations) 9. Gene frequencies of common recessive mutations
  40. 40. 40 10. Genetic heterogeneity 11. Parameters governing population genetic screening 12. Developmental genetics: selective transcription; differentiation; stem cells. 13. The clinical embryology of human malformation syndromes 14. Epigenetic events including imprinting 15. Principles of teratogenesis 16. Evolution, natural selection and selective advantage 17. History of eugenics movement II - Clinical Genetics Planned Covered Covered Not for in Learning objectives and but not Variable covered the next assessed assessed year 18. Take a family history 19. Construct and interpret a family tree 20. Recognise basic patterns of inheritance 21. Appreciate the risk of individuals suffering simple Mendelian disorders 22. Have a clinical knowledge of several Mendelian disorders 23. Have a clinical knowledge of chromosomal disorders including translocations, micro- deletions and the methods used to detect them 24. Have a clinical knowledge of the genetic factors associated
  41. 41. 41 with cancer predisposition 25. Recognise the genetic and environmental contribution to multi-factorial conditions e.g. congenital heart disease, cancer, diabetes and psychiatric illness
  42. 42. 42 26. Understand approaches which can be used for the diagnosis of genetic disease and carrier detection 27. Understand different forms of DNA testing: prenatal diagnosis pre-implantation diagnosis predictive testing as a diagnostic tool and appreciate when such testing may not be appropriate 28. Be able to interpret a simple DNA report and chromosome report 29. Be able to recognise cases with abnormal developmental and dysmorphic features 30. Be aware of current population genetic screening programs and guidelines for the introduction of such programs 31. Be familiar with the practice of the genetic counselling clinic, its motives and methods including the principles of non- directive, non-judgemental counselling and impact of genetic diagnosis on the extended family. Be able to communicate the concept of risk in a manner that can be understood by the patient 32. Know when and where to get genetic advice and information 33. Perceive major ethical issues in genetics
  43. 43. 43 III:-Special Study Modules 34. What Special Study Modules (SSMs) in genetics are offered in your school? Nos. of Is there a Programm students SSM title clinical e Year Department taking this component? SSM last year Yes/No Yes/No Yes/No Yes/No Yes/No Yes/No 35. Is student demand for SSMs in genetics met? (Please tick the appropriate box) Demand greater than availability Availability of SSMs about right Availability exceeds demand SECTION 2: COURSE STRUCTURE/METHODS/LEARNING RESOURCES 36. What type of curriculum does your school have? Mainly problem-based Systems-based Community-orientated
  44. 44. 44 Topic-based Subject/specialty based Mixture of the above (please specify) …………………………………………………………………………………………………………… …………………………………………………………………………………………………………. Other (please write in) ………………………………………………………………………………………………………… 37. What is the structure of genetics learning in your school? (Tick whichever options are relevant) Genetics covered as a separate subject Mixture of stand-alone genetics and integrated with other subjects Genetics is largely multi-disciplinary, integrated across departments Other (please write in) …………………………………………………………………………………………………………… 38. What methods are used to deliver your curriculum? (Please tick any methods that apply in your school) Basic science Lectures Small group teaching Self-directed learning Personal or group project work Problem based learning assignments Clinic attendance
  45. 45. 45 Discussion classes Lab/practical work Demonstrations Other (please specify)…… ………………………………………………………………………… Clinical Lectures Small group teaching Self-directed learning Personal or group project work Problem based learning assignments Clinic attendance Discussion classes Lab/practical work Demonstrations Other (please specify) ………………………………………………………………………………………………………… ………………………………………………………………………………………………………… If you are able to send us a copy of your course programme, this would be very helpful. 39. How many members of staff are involved in delivering genetics teaching? (Please write in the approximate number of staff alongside each category) Number of Number of NHS staff University staff Basic scientists Clinical teachers Specialist genetics teachers
  46. 46. 46 Social scientists Other health care professionals Other (please specify)
  47. 47. 47 40. What learning resources do they use? (Please indicate how important each method is) a. Didactic material/presentation Used Frequentl Used Not used infrequentl y used sometimes at all y Resources developed by individual teachers themselves and not shared with others Presentations developed in- house and used by various members of staff Presentations accessed from the internet CD-ROM based material or other electronic resources bought from elsewhere Other (please write in) ………………………………………………………………………………………………………….. … b. Clinical materials (e.g. case histories, resources for problem-based learning) Used Frequentl Used Not used infrequentl y used sometimes at all y Resources developed by individual teachers themselves and not shared with others Presentations developed in- house and used by various members of staff Presentations accessed from the internet CD-ROM based material or other electronic resources bought from elsewhere
  48. 48. 48 Other (please write in) …………………………………………………………………………………………………………… ASSESSMENT 41. Please indicate to what extent genetics is assessed in your curriculum Genetics is assessed as a part of other topics (please specify which courses) …………………………………………………………………………………………………………… ……………………………………………………………………………………………………………. . Genetics is assessed as a subject in its own right Genetics is not assessed at all Where genetics is assessed, the question is marked by a genetics specialist Genetics is only assessed as part of an SSM In which years of the course is genetics assessed? (Please specify) SECTION 3: LIKELY FUTURE NEEDS 42. What overall curriculum changes is your school planning to make in the next couple of years? (Please tick as many as appropriate and write in any other planned changes) Move towards Problem Based Learning Increase in specific dedicated genetics teaching More inclusion of genetics in other courses Increased staffing for genetics teaching Not decided yet, but under review More assessment questions in genetics
  49. 49. 49 Other (please specify) …………………………………………………………………………………………………………… ……………………………………………………………………………………………………………
  50. 50. 50 43. What factors would help you to develop genetics teaching in your school? Other (please specify) ………………………… 

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