Am Fam Physician. 2005 Dec 15;72(12):2444-2446.
This article exemplifies the AAFP 2005 Annual Clinical Focus on the legal, social, clinical, and ethical issues of medical genomics.
There has been a recent explosion of knowledge in genetics. This “big bang” and its ensuing discoveries are affecting medical understanding of both rare and common disorders. However, many new findings, especially in the realm of predictive genetic testing, have greatly outpaced medicine's ability to define what is clinically meaningful. This environment can seem confusing to patients and doctors alike.
Family physicians often feel unprepared to handle patient inquiries about the meaning and applicability of new genetic information.1 Although family physicians routinely counsel patients about familial risk factors and healthy lifestyles, traditional medical education often fails to train physicians how to apply new genetic data to routine patient care.2 Doctors typically rely on genetic counseling services, when they exist, to cope with the influx of medical genetics into daily practice. However, the scarcity of such services often renders this strategy ineffective.
We believe that family physicians can take on a larger role in genetic counseling. Physicians can begin the process of genetic counseling, help patients decide when to have genetic tests, arrange for referral to subspecialists, and help patients understand the information they receive. These skills are rapidly becoming an indispensable element in the family physician's repertoire.
The leading advocates for family physicians to take on a greater genetic counseling responsibility are patients themselves. Several studies3,4 found that patients prefer their primary care physician to facilitate informed decision-making about genetic testing and counsel them about preventive health measures. Such risk-assessment skills are used routinely in the evaluation of patients with cardiovascular disease.5 Why not broaden this skill to explicitly include family history and other genetic information?
The nature of genetic medicine is inherently compatible with the primary care philosophy of disease prevention. Early genetic testing and treatment focused on rare, highly penetrant mutations that led to disease; however, most of the disorders commonly seen in medicine (e.g., diabetes, cancer, heart disease) result from a complicated interplay between genetic predisposition, environment, and lifestyle choices.5,6 With an understanding of a patient's behavioral risk factors and an intimate knowledge of family history, family physicians can refer selected patients for genetic consultation and suggest preventive health measures.
Consider an example: a 50-year-old woman requests testing for the BRCA1/2 mutation because her elderly aunt died of breast cancer. The woman read about the genetic “breast cancer test” in a recent magazine article. In reviewing the patient's family history, the physician finds that both of the patient's parents died of complications of diabetes. The patient herself is overweight and smokes. Therefore, the question of familial breast cancer risk appropriately takes a back seat to the strong family history of diabetes and current health status. As a result, the family physician should explain to the patient that she would likely benefit more from smoking cessation and weight loss than from genetic counseling to determine her risk of breast cancer. Such a discussion can help patients understand the relevance of genetic tests in the context of their own personal health risks.
Genetic counseling can have broad implications for perceived health status, regardless of whether a patient undergoes genetic testing.7,8 One study7 suggests that patients who seek genetic counseling to determine their risk for cancer and subsequently refuse testing may experience unintended psychological problems up to six months after the counseling session.
A patient's perceived benefit from testing may vary depending on life circumstances. Likewise, the clinical utility of certain genetic tests may change over time as new treatments for diseases become available. Therefore, genetic counseling ideally is handled in the very sort of longitudinal relationship family physicians forge with their patients. The family physician is well-situated to revisit genetic issues and help patients anticipate the psychological effects of genetic risk assignment.
The “big bang” of genetic information promises to challenge family physicians in coming years. We must embrace this responsibility and develop new skills that incorporate genetic information as another aspect of the person we treat within the context of the ongoing doctor-patient relationship.
JEFFREY R. MARTIN, M.D., is associate director of the Lancaster (Pa.) General Hospital Family Medicine Residency Program and clinical assistant professor of medicine at Temple University School of Medicine, Philadelphia.
ADAM S. WILIKOFSKY, PH.D., is associate director of the Lancaster (Pa.) General Hospital Family Medicine Residency Program.
Address correspondence to Jeffrey R. Martin, M.D., Lancaster General Hospital Family Medicine Residency Program, 555 N. Duke St., Lancaster, PA 17604 (e-mail: firstname.lastname@example.org). Reprints are not available from the authors.
1. Freedman AN, Wideroff L, Olson L, Davis W, Klabunde C, Srinath KP, et al. U.S. physicians' attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A. 2003;120:63–71.
2. Suther S, Goodson P. Barriers to the provision of genetic services by primary care physicians: a systematic review of the literature. Genet Med. 2003;5:70–6.
3. Kinney AY, DeVellis BM, Skrzynia C, Millikan R. Genetic testing for colorectal carcinoma susceptibility: focus group responses of individuals with colorectal carcinoma and first-degree relatives. Cancer. 2001;91:57–65.
4. Yoon PW, Scheuner MT, Khoury MJ. Research priorities for evaluating family history in the prevention of common chronic diseases. Am J Prev Med. 2003;24:128–35.
5. Collins FS. Shattuck lecture—medical and societal consequences of the Human Genome Project. N Engl J Med. 1999;341:28–37.
6. Collins FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA. 2001;286:2322–4.
7. Lerman C, Hughes C, Lemon SJ, Main D, Snyder C, Durham C, et al. What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing. J Clin Oncol. 1998;16:1650–4.
8. Lucassen A, Parker M. Revealing false paternity: some ethical considerations. Lancet. 2001;357:1033–5.
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