Linking Ruth to Her Past

I found Dr. Justin's article deeply moving. Genetic predisposition plays out in the midst of family life. I aspire to have the type of deep, long relationship with some patients that Dr. Justin describes. Yet I found myself also wanting to counteract the fatalism expressed here. A family history like Ruth's signifies a high risk of having inherited susceptibility to early-onset breast (and ovarian) cancer. With recognition that germ-line mutations in tumor suppressor genes such as BRCA1 and BRCA2 can cause such a pattern has come the possibility of genetic testing. If a mutation in one of these genes were found in a family member with breast or ovarian cancer (for example, Ruth's mother), other family members (for example, Ruth) could now choose to be tested for the same mutation. If a close relative's test were negative, then she could be reassured that she did not inherit a greatly increased chance of developing breast cancer, and perhaps freed from some of the fatalism that such a family history engenders.

If she had tested positive for the mutation, or chose not to have genetic testing, nowadays additional surveillance and preventive measures would be recommended [Burke, 1997]. Besides breast self-examination and clinical breast exams, expert consensus recommends yearly mammograms starting at age 25, and periodic ultrasound examinations of the ovaries and serum CA- 125 measurements are under study. The cancer-protective effects of prophylactic surgery have been more clearly defined. Case series have shown protection from breast cancer by means of prophylactic simple mastectomy and oophorectomy prior to age 35. Such women would also now have the option of chemoprevention with tamoxifen or raloxifene.

Like Dr. Justin, primary care physicians caring for family members in successive generations and at various stages of life are likely to recognize familial risk, and to understand its personal, lived significance. Knowing the family's experience, when important life situations arise, they can be in position to meaningfully revisit with their patients the options for genetic testing, surveillance, and prevention. Without continuity, it seems likely that identifying familial risk, counseling patients about these options and preparing them for expert genetic consultation will be much more time-consuming and potentially less effective.

[Burke W, Daly M, Garber J, Botkin J, Kahn MJE, Lynch P, McTiernan A, Offit K, Perlman J, Petersen G, Thomson E, Varrichio C; for the Cancer Genetics Consortium. Recommendations for follow-up care of individuals with an inherited predisposition to cancer. II. BRCA1 and BRCA2. JAMA 1997; 277:997-1003.]

Competing interests:   Associate editor, Annals of Family Medicine