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Hereditary cancer testing in community oncology practices






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Hereditary cancer testing in community oncology practices Hereditary cancer testing in community oncology practices Document Transcript

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