To the Editor: White et al. (1) examine decision patterns among family physicians presented with a hypothetical clinical scenario depicting a woman (Terry, 47 years) concerned about her risk of breast cancer after the recent diagnosis of breast cancer in her sister (53 years). Terry questions whether she should pursue genetic testing. The authors conclude that physicians are poorly informed of recent U.S. Preventive Services Task Force–outlined criteria for BRCA1/2 genetic counseling and testing (2) and that providers underestimate the costs of low-risk referrals, such as the consumption of scarce genetic services, which would otherwise be available to patients with greater risks.
A bias in the study interpretation merits attention. In the scenario, Terry expresses two concerns: (a) whether she may be at “higher than average risk for getting breast cancer” and (b) whether she should undergo genetic testing. Terry's risk of breast cancer is rated as “moderate” and her risk of having a mutation as “low” by study participants (Table 1). Assessing her breast cancer risk using the National Cancer Institute's Breast Cancer Risk Assessment tool,1 Terry's risk is in fact elevated compared with the general population, as much as 2-fold greater if white race, early-onset menstruation, and late age of first childbirth are chosen. The study participants correctly ascertain Terry's elevated risk based on her sister's history; however, the decision to refer for genetic services is called into question because her risk does not meet U.S. Preventive Services Task Force criteria for genetic services referral related to BRCA1/2 testing (2). In determining the appropriateness of genetic counseling, the authors focus (narrowly) on breast cancer risk related solely to BRCA1/2.
Genetic services encompass more than BRCA1/2 testing.2 Although BRCA1/2 counseling is an important component of breast cancer risk assessment, evaluation of future breast cancer risk using risk assessment tools,1 as well as education on risk factor management, screening options, and risk modification (e.g., tamoxifen), is also standard. By narrowly interpreting the clinical value of genetic services in the study, the authors portray family physicians as ill informed and potentially wasteful. Viewed another way, Terry's history suggests a personal risk for breast cancer that is higher than the general population; however, her overall risk is influenced by a complex set of factors beyond the expertise of many family physicians. Referral for genetic services is an excellent way by which physicians may provide concerned patients with detailed information on their risk of cancer even if testing for currently known high-risk genes may not be indicated.
Disclosure of Potential Conflicts of Interest
No potential conflicts of interest were disclosed.