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Hereditary cancer testing in community oncology practices



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  • 1. 2 COMMUNITY ONCOLOGY ■ November 2007 Cancer Genetics Manuscript received October 1, 2007; accepted October 22, 2007. Correspondence to: Linda D. Bosserman, MD, FACP, Wilshire Oncology Medical Group, Inc., 1910 Royalty Drive, Pomona, CA 91767; telephone: 909-865-9960; fax: 909-865-9696; e- mail: Commun Oncol 2007;4(suppl 4):2–8 © 2007 Elsevier Inc. All rights reserved. Hereditary cancer testing in community oncology practices Linda D. Bosserman, MD, FACP,1 Julia A. Smith, MD, PhD,2 Beth Hellerstedt, MD,3 and Larry Geier, MD4 1 Wilshire Oncology Medical Group, Inc., La Verne, CA; 2 New York University Cancer Institute, New York, NY; 3 Texas Oncology Cancer Center, Austin, TX; and 4 Kansas City Cancer Center, Kansas City, MO Approximately one fifth of all newly diagnosed cases of breast and colon cancers are at risk for a hereditary cancer syndrome. Mutations associated with hereditary breast and ovarian cancers (HBOC) and hereditary nonpolyposis colorectal cancer (HNPCC) significantly increase the risk of primary breast or ovarian cancer and colorectal or endometrial cancer, respectively, as well as other less common tumors. For patients with mutations associated with these syndromes, as well as other hereditary cancer syndromes, family members—especially first-degree relatives—also may be at risk for developing these malignancies. Therefore, identification of at-risk individuals, appropriate pre- and post- test risk assessment and counseling, and genetic testing for appropriate individuals are important aspects of oncology care. This article highlights general features of hereditary cancer syndromes, approaches to patient identification, and guidelines for testing and counseling within community-based oncology practices. Options for medical management, ranging from heightened cancer surveillance to prophylactic surgery, are discussed. Effective screening and counseling for these cancer syndromes, coupled with guidance regarding therapeutic options, present an opportunity for oncologists to have a significant impact on the lives of patients and their families through cancer prevention. C ancer genetics is becoming in- creasingly recognized as an es- sential component of many on- cology practices, due in large part to the growing identifica- tion of hereditary cancer syn- dromes and other cancer-associated mutations. It is estimated that 20% of all newly diagnosed colon and breast cancers are at risk for having a hereditary cancer syndrome, and 5%–10% will have identifiable mutations.1,2 These genetic alterations significantly increase the risk for primary cancer as well second primary tumors. Hereditary cancer syndromes are generally characterized by the appearance of cancer at an early age, familial association suggesting inher- itance, bilaterality in paired organs, and an associa- tion with other tumor types.3 A survey of American Society of Clinical On- cology (ASCO) members confirmed the growing importance of genetic testing and hereditary cancer syndromes, as well as the need for continued educa- tion to keep abreast of new advances in this rapid- ly changing field.4 The impact of this intervention on cancer prevention may be substantial, not only for individuals suspected to be at risk for a particu- lar mutation, but also for their children and other family members. In addition, patients presenting to an oncologist with a new cancer are often found to have possible familial cancer inheritance patterns during the initial workup. Some oncologists incor- porate genetic counseling (with or without testing) into their treatment decisions for primary cancer. This article provides an overview of common hereditary cancer syndromes to help oncologists better identify patients who may be at increased risk. It also presents practical guidance for heredi- tary cancer testing, including counseling of patients and their families before and after testing and ways in which this information may best be utilized for medical management. Hereditary cancer syndromes Oncologists and other physicians should be aware of the more common hereditary cancer syn- dromes and the increased cancer risks associated with each one. Due to the growing number of can- cers and cancer syndromes associated with germ- line mutations, ASCO’s Subcommittee on Cancer Genetic Testing has developed an extensive list of
  • 2. November 2007 ■ COMMUNITY ONCOLOGY 3Volume 4/Number 11/Supplement 4 cancer-associated genetic syndromes for oncologists, cancer geneticists, and other physicians treating patients with or at risk for cancer.5 This com- pilation is periodically updated as re- search continues to identify addition- al genes and cancer syndromes, and clinical tests are developed to assess these markers. The more common cancer predisposition syndromes and their corresponding mutations are shown in Table 1. Althoughoverallrisksinthegener- al population are low, certain patients and families face a risk for hereditary cancer. The presence or suspicion of specific cancers or combinations of certain malignancies in specific pa- tients or their families should serve as a “red flag” to alert physicians to the need for further evaluation and genetic testing (Table 2). For exam- ple, the presence of a BRCA mutation may be suggested by the combina- tion of breast and ovarian cancers in a family or the occurrence of bilateral breast cancer in an individual, a per- sonal or family history of breast can- cer or early-onset disease, Ashkenazi descent, or ovarian cancer at any age. Similarly, patients with a history of or presenting with early-onset colorec- tal or endometrial cancer should be considered for hereditary non-pol- yposis colorectal cancer (HNPCC) or Lynch syndrome. Identification of carriers of muta- tions associated with these syndromes is critical for appropriate risk assess- ment of developing a primary ma- lignancy and/or a second primary cancer. Detecting hereditary cancer syndromes can lead to heightened surveillance for specific types of ma- lignancies, improved cancer-preven- tion strategies, and more proactive options such as preventive surgery. Testing guidelines In recognition of the growing need for education and awareness regard- ing inherited cancer syndromes and the desire for better guidance on test- ing and management, ASCO issued a Statement on Genetic Testing for Cancer Susceptibility in 1996.5 This document provided specific recom- mendations regarding genetic test- ing in clinical practice, education, and protection of patients from discrim- ination. The 2003 update6 further extended these guidelines, defining when and for whom genetic testing and counseling should be offered: (1) when any patient presents with a per- sonal or family history or features sug- gestive of hereditary cancer risk; (2) the test can be interpreted adequately by a healthcare professional trained in cancer genetics; and (3) if results of the test will help in the diagnosis or medical management of the patient or family members at risk. It also em- phasized the need for pre- and post- test counseling, including discussion of possible risks and benefits. Testing guidelines also have been issued by the National Comprehen- sive Cancer Network (NCCN).3 These guidelines provide clear rec- ommendations for evaluation, testing, and management as well as guidance on education of patients and their families for hereditary cancers. On- cologists should offer testing to their patients only if they are able to pro- vide adequate education and counsel- ing, including a discussion of all treat- ment and cancer surveillance options. If not, patients should be referred to genetic counselors, geneticists, or on- cologists who have more experience in this area.7 Genetic testing Genetic testing for at-risk patients allows for informed decision-making based on the mutational status of a given gene, facilitating accurate risk assessment and individualized medi- cal management.Testing may be used to confirm a suspected mutation as- sociated with a diagnosed cancer or to identify individuals and their rela- tives who are at increased risk for a certain type of malignancy (typically a first-degree relative of an affected family member). It can also alleviate uncertainty and anxiety by providing a definitive assessment of the cancer risk associated with a particular mu- TABLE 1 Selected common hereditary cancer syndromes Syndrome Gene(s) Main features/cancers Other features/cancers Hereditary breast/ovarian BRCA1, BRCA2 Breast, ovarian Pancreatic, melanoma, prostate FAP APC Colorectal Duodenal, and ampullary, thyroid, pancreatic, hepatoblastoma (childhood), CNS (medulloblastoma), gastric, bile duct, adrenal gland Hereditary melanoma/FAMMM p16, CDKN2A Melanoma Pancreatic Li-Fraumeni p53 Sarcoma, breasat, brain, Melanoma, gonadal germ cell, gastric, leukemia, adrenal cortical Wilm’s tumor, phyllodes, prostate, laryngeal, lung, pancreatic, lymphoma, ovarian, colorectal, endometrium, thyroid, cervical Lynch (HNPCC) MLH1, MSH2, Colorectal, endometrial Gastric, ovarian, ureter/renal pelvis, biliary MSH6, PMS2 tract, small bowel, pancreas, brain FAMMM = familial atypical multiple mole melanoma syndrome; FAP = familial adenomatous polyposis; HNPCC = hereditary non-polyposis colorectal cancer Hereditary cancer testing in community oncology practices CANCER GENETICS
  • 3. 4 COMMUNITY ONCOLOGY ■ November 2007 tation. In addition, a negative test can reassure relatives of affected individu- als. This knowledge is empowering to many patients, providing them with the ability to make choices regarding their cancer risk and subsequent care. Several steps should be followed to ensure accurate testing for hereditary cancer mutations and interpretation of results. Once at-risk patients are identified using the “red flags” previ- ously mentioned, physicians should provide appropriate risk assessment, education about the test, and in- formed consent.This process includes information on the logistics of genet- ic testing, an understanding of test re- sults, and post-test medical manage- ment options for individuals based on their test results. Many genetic tests for hereditary cancer syndromes can be performed on a peripheral blood sample. To facilitate this process, some companies market testing kits that can be mailed to a central lab- oratory for analysis. Results of these tests, along with detailed explanations of the results that are appropriate for patients and physicians, respectively, are sent back to the physician’s office. Even when genetic testing is offered to at-risk individuals, some decline to be tested. The reasons for this refusal are varied but can include anxiety or fear regarding the results and concern regarding cost or insurance coverage.8 Moreover, some individuals may have misconceptions about the actual na- ture of genetic testing and how test re- sults might be used for employment or insurance discrimination.9 Physicians can allay many of these concerns, however, through education and open discussions with patients prior to testing and during post-test counseling. Oncologists who follow their patients long term remain an ongoing source of education and up- dated information on cancer genet- ics. Patients who may be too over- whelmed to fully explore these issues during initial cancer therapy can deal with genetic inheritance risks and choices as part of their long-term follow-up cancer care. Increasingly, women who present with breast can- cer, especially at an early age, can be informed of the benefits of genetic testing as part of their initial workup; in this way, they can make informed decisions about their definitive sur- gery in light of their future risk of sec- ond primary cancers. Informed consent Informed consent for genetic test- ing for hereditary cancer syndromes is similar to that for other medical tests and cancer therapies. Informed con- sent consists of several key elements: (1) a discussion of the genetic test, its accuracy, and possible outcomes (posi- tive, negative, or indeterminate) and their implications; (2) the risk of chil- dren inheriting a specific mutation; (3) the cost of testing, counseling, and in- surance coverage; (4) issues related to confidentiality, including the potential for discrimination; (5) medical man- agement options for positive and neg- ative results; and (6) the importance of referring any at-risk family members for genetic testing and counseling.10 Test results should be thoroughly discussed with patients so they un- derstand how these findings can im- pact medical management decisions. If results are positive for a mutation, the physician should address how that affects the risk of cancer for the indi- vidual as well as family members. For example, if a patient is found to have a BRCA mutation, there is a 50% prob- ability that first-degree relatives (ie, children, siblings, and parents) also may have the same mutation. An ad- ditional benefit of post-test consulta- tions, including cancer surveillance and prevention, is that they facilitate discussion regarding positive lifestyle changes patients can implement, such as improved nutrition, exercise, and stress, and their possible impact on cancer risk. If test results are negative, these findings should be carefully discussed with the patient to explain their possi- ble implications, because misinterpre- tation of test data or improper genetic counseling could lead to a decrease in or cessation of surveillance and recur- rence of cancer. A negative result is likely due to one of three possible ex- TABLE 2 “Red flags” for common hereditary cancer syndromes Breast and ovarian cancers ■ Breast cancer at an early age (< 50 years) ■ Ovarian cancer at any age ■ Male breast cancer at any age ■ Multiple primary cancers in a single patient or family (breast, ovarian, pancreatic, melanoma, prostate, male breast) ■ Ashkenazi Jewish ancestry ■ Pancreatic cancer or melanoma in combination with above items ■ Relatives of a known BRCA mutation carrier Lynch syndrome ■ Early-onset colorectal cancer (< 50 years) ■ Early-onset endometrial cancer (< 50 years) ■ Two or more instances of HNPCC in an individual or family Melanoma ■ Two family members diagnosed with melanoma ■ Individual diagnosed with multiple primary melanomas ■ Melanoma and pancreatic cancer diagnosed in the same individual or family HNPCC = hereditary non-polyposis colorectal cancer CANCER GENETICS Bosserman/Smith/Hellerstedt/Geier
  • 4. November 2007 ■ COMMUNITY ONCOLOGY 5Volume 4/Number 11/Supplement 4 planations. (1) A mutation in the gene analyzed could not be detected using current technology. (2) The cancer is hereditary, but the wrong gene was an- alyzed. (3) The cancer is sporadic and not hereditary. Test results that are in- determinate or that detect unusual ge- netic polymorphisms of unknown clin- ical significance may be misinterpreted by patients. Therefore, these findings should be confirmed by testing addi- tional family members, if appropriate; regardless of whether such a mutation is later determined to be significant or nonsignificant, updated information should be provided, and implications of these findings should be carefully reviewed during counseling.7 Legal issues and insurance discrimination The legal implications of genetic testing for cancer have been discussed in detail elsewhere.10 Generally, phy- sicians have a legal (and ethical) re- sponsibility to be aware of recent data in the literature, to offer appropriate tests for patients who are at increased risk, and to communicate these find- ings and their interpretation (prefer- ably in writing) to patients and fam- ily members.10 However, in light of the increasing number of mutations, technical advances, and counseling and surveillance issues, some oncolo- gists may choose to refer their patients to a genetic counselor.1 For those who choose to perform genetic counsel- ing within their practice, resources for up-to-date information are available at Certain legal ramifications relate to patienttestingandhowtheseresultsare disseminated. It is important to coun- sel patients concerning risk for family members; however, patient confidenti- ality must be considered. It is best to document all findings and counseling given. Although all at-risk patients and family members should receive testing and counseling, some choose not to do so. Patients may fear dis- cussing results of their tests with other family members to protect their chil- dren or not to unduly involve relatives. Due to the potential for not diagnos- ing other carriers in the family, howev- er, physicians should strongly encour- age their patients to share results and discuss the possible impact on future cancer risk with all family members so that they can be adequately screened and counseled. The rapport physicians develop over time with their patients regarding testing and possible therapy may help overcome any hesitancy by patients to have such discussions with family members. A potential concern for physicians is the possibility of misdiagnosing a hereditary cancer syndrome. Factors that may confound identification and testing of at-risk individuals include incomplete or inaccurate pedigree or family history, family issues, and incomplete gene penetrance.1 On- cologists have a responsibility to be aware of documented and recently described mutations and syndromes based on the medical literature and to identify appropriate patients for test- ing and conduct or refer them for ge- netic counseling to identify risks and treatment options. Courts typically apply a “reasonable physician” test to judge whether patient care was in ac- cordance with accepted standards at the time of the case.10 Not identify- ing mutations or hereditary cancer syndromes when present could jeop- ardize individuals by failing to offer appropriate therapy to patients and their family members and by subject- ing them to inadequate or potential- ly dangerous treatments. It may also preclude patients from making a de- cision that would protect them from second primary cancers in the future. Many patients are naturally con- Hereditary cancer testing in community oncology practices CANCER GENETICS The primary goal of genetic testing is the prevention of cancers that were destined to occur in affected individuals. Oncologists often spend a great deal of effort try- ing to squeeze an extra few months of a cancer patient’s life but put comparatively little effort into identifying the genetically predisposed patient whose life can actu- ally be saved by taking appropriate measures to keep the cancer from ever devel- oping. No matter how effective our treatments for any given cancer become, they will never be as effective as avoidance of the cancer in the first place. In fact, the greatest opportunity to save lives lies in the appropriate counseling and testing of at-risk family members of patients with genetic mutations for one of the hereditary cancer syndromes. I found a BRCA mutation in a 45-year-old woman with triple-negative breast cancer who had no apparent family history. However, upon further questioning, it became evident that a paternal great uncle had a daughter with breast cancer at age 40 (a fourth-degree relative). Therefore, I focused the search for potentially affected relatives on the father’s side of the family. A 44-year-old paternal cousin was found to have the same mutation, and she chose to have a prophylactic salpin- go-oophorectomy. Despite a completely normal preoperative evaluation, she was found to have an occult stage I ovarian cancer at the time of surgery, a phenom- enon that occurs in about 2%–4% of patients with a BRCA mutation who have this preventive operation. As a result, several other family members who initially had declined testing then agreed, and three additional relatives were found to carry the mutation. Each of them has either undergone preventive surgery or has undertaken age-appropriate surveillance. This case illustrates not only the necessity of looking at a more extended family history in those with a limited family structure, but also the value of family testing in preventing potentially deadly cancers. No one is in a better position to do this than the community oncologist. —Larry Geier Why we perform testing?
  • 5. 6 COMMUNITY ONCOLOGY ■ November 2007 cerned about genetic testing and its pos- sible impact on work and family. Com- monly asked questions include,“Should I undergo genetic testing?”“What about the risks of insurance or employment discrimination?” Some patients choose not to undergo testing due to fear about (illegal) discrimination regarding insur- ance or employment. Positive test results indicating the presence of a cancer-causing muta- tion or familial cancer syndrome could theoretically affect one’s life or health insurance status. However, it should be emphasized that no cases of insur- ance discrimination have been docu- mented to date.10 For example, one study evaluated 636 women undergo- ing genetic counseling and/or testing for breast cancer.11 Fear of life insur- ance discrimination was negatively associated with a decision to proceed with BRCA1/2 testing. However, there was no evidence that testing actually resulted in discrimination. Another study of patients and genet- ic counselors revealed that patients’ fear of health insurance discrimina- tion due to genetic testing far exceed- ed any actual problems.12 Thus, these fears should be discussed, yet patients can be reassured that the likelihood of insurance discrimination based on genetic test results is low. Post-test counseling and medical management Regardless of the results,all patients and their families should receive post- test counseling. Physicians need to discuss with their patients the various types of possible test results, including their interpretation and limitations, and subsequent medical management options based on these results. Patients who are found to have a mutation associated with a hereditary cancer syndrome should discuss with their physicians the meaning of this finding, choices for subsequent medi- cal management, and the risks and benefits of various options. Patients should learn to appreciate the distinc- tion between the risk of recurrence of their primary tumor versus the likeli- hood of a new tumor arising as a re- sult of their mutation (eg, a second breast or ovarian tumor). Family members who are deter- mined to be carriers or who are at in- creased risk should also be offered ge- netic counseling. Pedigree analysis can help identify family members at risk for a mutation based on the patient’s personal and family histories and likely patterns of inheritance. Typically, it is the patient’s responsibility to contact appropriate family members to inform them of the possible risk of mutation and the need for genetic testing. Form letters to family members for some he- reditary cancer syndromes may help patients with this task and may aid in referring relatives for testing and coun- seling if desired.13 Similar templates are available to assist physicians with collection of family histories, identifi- cation of at-risk patients, and educa- tion of patients regarding genetic test- ing for hereditary cancer. Physicians should try to determine howmuchcounselingeachpatientneeds and wants.Although some patients may desire lengthy or multiple consultations, most prefer a more succinct, direct ap- proach.Clear communication regarding the test results and their interpretation, as well as implications for subsequent treatment and long-term cancer moni- toring, is sufficient for many patients and their family members. Patient-ap- propriate educational resources (both printed and electronic) are available, as are support groups. Genetic testing may have both pos- itive and negative emotional and psy- chological effects. The realization that an individual is not a mutation car- rier can alleviate much of the anxiety and uncertainty about his or her own cancer risk as well as that of his or her CANCER GENETICS Bosserman/Smith/Hellerstedt/Geier Our group screens every new patient for potential inherited syndromes using an initial questionnaire encompassing the “red flags.” If a patient is identified, he or she is referred for a genetic counseling appointment. We have developed a formal program run by our nurse practitioners, so patients can be referred for evaluation from their primary physician or gynecologist. Since genetic testing became more widely available, we have found a high level of patient interest. Almost all our patients who are counseled decide to go through with testing. Often, they are initially fearful of the unknown, but testing really provides answers about risk. With spreading knowledge of the program throughout the community, we have found many patients come to their initial con- sultation asking whether they are appropriate candidates for testing. To continue to educate primary practitioners in the community, I include a discussion about ge- netic testing (reviewing red flags) in each initial consultation. I also make reference to the genetic testing status in every subsequent note. We began methodically screening patients about 2 years ago, and our practice has identified approximately 30 patients with inherited syndromes. Each patient has made specific decisions about risk reduction, which often affect initial surgical management. The surgeons in our community have embraced the idea of testing and often send the patient for evaluation preoperatively. Our surgeons collaborate to ensure patients undergo as few procedures as possible (ie, they perform pro- phylactic bilateral salpingo-oophorectomy at the time of the breast surgery). Even patients referred for HBOC counseling who do not have a genetic syndrome can benefit from discussion about chemoprevention; all patients who are at risk under- go formal evaluation by one of our medical oncologists. We consider testing to be an integral part of our practice, and an opportunity we do not often have as oncologists—primary prevention. —Beth Hellerstedt How we incorporate testing into our practice?
  • 6. November 2007 ■ COMMUNITY ONCOLOGY 7Volume 4/Number 11/Supplement 4 children.14 For some, positive identi- fication of a mutation or cancer syn- drome provides a degree of confirma- tion about their risk, allowing them to make definitive choices with regard to their medical options, finances, and long-term care.2 It may also prompt them to be more aggressive and com- pliant with cancer surveillance mea- sures. In other patients, testing is as- sociated with a high degree of anxiety regarding cancer risk for themselves and their children, whether affected by cancer or not. A study of genetic testing for HNPCC indicated that even unaffect- ed mutation carriers had higher levels of anxiety pre- and postdisclosure com- pared with noncarriers.15 Test-related anxiety was found to decrease signifi- cantly in the 12 months after evalua- tion, often faster in noncarriers than in carriers.16 However, no long-term ad- verse psychological consequences were noted in either group as a result of the testing, a conclusion supported by oth- er investigators.14 Similar results have been reported for BRCA1/2 mutation noncarriers.17,18 Physicians should con- sider the need for psychological sup- port for all patients and involved fam- ily members, especially those who test positive for a mutation. Conclusion The ability to advise patients and their family members who may be at high risk for cancer-associated muta- tions or hereditary cancer syndromes represents a tremendous opportunity to potentially prevent cancer, possi- bly throughout multiple generations. For many physicians, this challenge represents a source of great satisfac- tion and a way to have a significant impact on the lives of patients and their families. Continued education for both oncologists and patients, routine cancer screening, and genetic testing and counseling are warranted to provide patients with informed de- cision-making regarding cancer risk and prevention. References 1. Lynch HT, Snyder CL, Lynch JF, Riley BD, Rubinstein WS. Hereditary breast-ovarian cancer at the bedside: role of the medical on- cologist. J Clin Oncol 2003;21:740–753. 2. Petersen GM, Brensinger JD, Johnson KA, Giardiello FM. Genetic testing and counseling for hereditary forms of colorectal cancer. Cancer 1999;86(11 suppl):2540–2550. 3. NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment: breast and ovarian. V.1.2007. Available at: http:// Accessed September 24, 2007. 4. American Society of Clinical Oncology, Ganz PA, Kwan L, et al. The role of prevention in oncology practice: results from a 2004 survey of American Society of Clinical Oncology members. J Clin Oncol 2006;24:2948–2957. 5. Statement of the American Society of Clin- ical Oncology: genetic testing for cancer suscepti- bility. Adopted on February 20, 1996. J Clin On- col 1996;14:1730–1736. 6. American Society of Clinical Oncology. American Society of Clinical Oncology policy statement update: genetic testing for cancer sus- ceptibility. J Clin Oncol 2003;21:2397–2406. 7. Greene MH, Kohlmann W, Popik WC, Offit K. Cancer genetics in practice: guidelines and emerging issues. ASCO Educational Book, 2004:104–108. 8. Foster C, Evans DG, Eeles R, et al. Non- uptake of predictive genetic testing for BRCA1/2 among relatives of known carriers: attributes, can- cer worry, and barriers to testing in a multicenter clinical cohort. Genet Test 2004;8:23–29. 9. Rose AL, Peters N, Shea JA, Armstrong K. Attitudes and misconceptions about predictive genetic testing for cancer risk. Community Genet 2005;8:145–151. 10. Anderson RR, Haidle JL. Legal consid- erations in clinical cancer genetics. Community Oncol 2006;3:100–104. 11. Armstrong K, Weber B, FitzGerald G, et al. Life insurance and breast cancer risk as- sessment: adverse selection, genetic testing deci- sions, and discrimination. Am J Med Genet A 2003;120:359–364. 12. Hall MA,Rich SS.Patients’fear of genetic discrimination by health insurers:the impact of le- gal protections. Genet Med 2000;2:214–221. 13. Genetic testing for hereditary cancer syndromes resource guide. Available at: http:// Hereditary cancer testing in community oncology practices CANCER GENETICS All women younger than age 50 presenting with early breast cancer should be test- ed for a genetic mutation, as should any woman with ovarian cancer. The incidence of breast cancer increases with age, and breast cancer in a woman younger than age 50 is distinctly unusual. Also, ovarian cancer is a rare cancer in our society. For these women affected with cancer, I raise the need for genetic testing at the initial visit and inform them it is an important component of their overall work- up that can be useful in choosing among surgical alternatives. For these women younger than age 50, insurance coverage is not usually an issue, and privacy and discrimination concerns are irrelevant because the cancer trumps any genetic test result in this arena. For women who either have early breast cancer or who are not affected but are at increased risk for a deleterious mutation because of a “red flag,” a positive test result may result in lifesaving procedures of prophylactic surgery or screening regi- mens that prevent a second primary cancer. Should women with early-onset breast cancer develop another unrelated second primary tumor, they will have limited thera- peutic options after undergoing treatment for their initial tumor. Women who have not been affected with cancer can make decisions that allow them to minimize their risk for these cancers. Finally, for women with other hereditary cancer syndromes eg, HNPCC, identifying the presence of a genetic mutation can allow clinicians to inter- vene either before the associated cancer or after the primary tumor has occurred, so as to prevent a second new primary cancer from developing. When I first began to incorporate genetic testing into my practice, it took me an extended period to sort out the options and alternatives with my patients. As I became more familiar with the ramifications and continued discussing the possibilities and op- tions with patients, I found that most women now expect this to be part of the discussion and are grateful the bases are being covered. So now, when a 45-year-old woman sits across from me and anxiously tells me that her mother died at 44 of breast cancer, her aunt died at 47 of breast cancer, and her sister was just diagnosed with breast cancer at age 34, I have some answers. —Julia A. Smith Who is a candidate for testing?
  • 7. 8 COMMUNITY ONCOLOGY ■ November 2007 ABOUT THE AUTHORS Affiliations: Dr. Bosserman is a medical on- cologist and President, Wilshire Oncology Medical Group, Inc., La Verne, CA; Dr. Smith is a medical oncologist and Director of the New York University Cancer Institute Breast Cancer Screening and Prevention Program, and Director Lynne Cohen Breast Cancer Preventive Care Program at NYUCI, New York, NY; Dr. Hellerstedt is a medical oncolo- gist and the principal investigator, Texas On- cology Cancer Center, Austin, TX; and Dr. Geier is a medical oncologist, Kansas City Cancer Center, Kansas City, MO. Conflicts of interest: Dr. Bosserman, Dr. Smith, and Dr. Hellerstedt are consultants for Myriad Genetics and Genomic Health. Dr. Geier has nothing to disclose. letters.htm. Accessed October 25, 2007. 14. Meiser B, Butow P, Friedlander M, et al. Psychological impact of genetic testing in women from high-risk breast cancer families. Eur J Cancer 2002;38:2025–2031. 15. Gritz ER, Peterson SK, Vernon SW, et al. Psychological impact of genetic testing for hereditary nonpolyposis colorectal cancer. J Clin Oncol 2005;23:1902–1910. 16. Broadstock M, Michie S, Marteau T. Psychological consequences of predictive ge- netic testing: a systematic review. Eur J Hum Genet 2000;8:731–738. 17. Andrews L, Meiser B, Apicella C, Tucker K. Psychological impact of genetic test- ing for breast cancer susceptibility in women of Ashkenazi Jewish background: a prospective study. Genet Test 2004;8:240–247. 18. Claes E, Evers-Kiebooms G, Denayer L, et al. Predictive genetic testing for hereditary breast and ovarian cancer: psychological distress and illness representations 1 year following dis- closure. J Genet Couns 2005;14:349–363. CANCER GENETICS Bosserman/Smith/Hellerstedt/Geier As a practicing community oncologist for the past 20 years, I have found that my patients want genetic risk assessments, information, counseling, testing, and care coordination as part of their routine oncology care. Our group has a tradition of three-generational family history documentation for new consultations. We have a paper intake form for every new patient, conferences to discuss identification of at-risk patients, and options for counseling and care. The majority of at-risk patients are identified, counseled, and followed in our cancer clinics by medical oncolo- gists with nurse practitioners and physician assistants. Often, when there are many issues to discuss at the initial consultation, I sched- ule additional visits to specifically address genetic risks and implications for that patient’s care decisions. I find most patients appreciate a concise discussion of these issues, just as they would expect one on their extensively complex cancers. With the community curriculum and extensive educational materials at our disposal for physicians, patients, and family members, my patients are comfortable receiv- ing their care within our practice. For those who choose hereditary cancer testing during the workup phase of their cancer, we have a process to get authorization, schedule follow-up with pa- tients to review, and provide patients with a copy of their results and informational materials on the meaning of the results. We do the detailed follow-up results coun- seling and development of a family outreach plan. To identify unusual family cancer histories, it would be ideal to have an electronic entry source for review to determine whether any known mutations are related to those patients and to have them see a genetic cancer expert for later follow-up or studies if available. Given the increasingly busy days we have as oncologists, I have been grateful for the expert geneticists available for phone consultation. With my patients’ permission, I have made several calls to discuss unusual family histories with genetic experts at Myriad Genetics and have been pleased with the detailed literature reviews; they help me determine, step-by-step, which is the most likely genetic mutation for testing or whether that patient’s family pattern has not been identified with a specific mutation. When no mutations are currently known, however, it would be great to have that information available to researchers who could contact our practice if additional testing or research might be appropriate. Most of my patients would readily agree to contribute to advancing the field of mutation detection. — Linda D. Bosserman Where can improvements be made?