The integration of genomics into clinical practice is forecast to have important benefits for health care delivery and health outcomes (1
). BRCA 1 and BRCA 2 (BRCA1/2) testing for familial breast and ovarian cancer is an example of the kinds of testing that will be available clinically. Carriers of BRCA1/2 mutations are at substantially increased risk for breast and ovarian cancer. However, the distribution of BRCA1/2 mutations in the general population is very low, estimated at 1 in 300 to 500 (2
). Additionally, hereditary breast cancers account for about 5 to 10% of all breast cancer cases, with BRCA1/2 mutations only contributing to a small fraction of these cases (3
). One study reported that within an average general practitioner’s caseload of 1700 patients, only 140 patients would be estimated to have a family history of breast, colorectal or breast/ovarian cancer, and 10 of these patients would be considered appropriate for referral to genetic counseling based on well-defined risk criteria (4
Direct-to-consumer marketing of BRCA1/2 testing and American women’s tendency to overestimate their risks of breast cancer (5
) create consumer demand as women “self refer” to primary care clinicians and request genetic testing (6
). Traditionally, genetic testing is provided in the context of appropriate genetic counseling or education; yet, clinical genetic services in the U.S. remain relatively scarce (10
). The low prevalence of BRCA1/2 mutations means that in the majority of self-referral situations, primary care clinicians will be in the position of having to dissuade low-risk women from BRCA1/2 counseling and testing. This will put considerable pressure on clinicians to make appropriate referrals.
Inappropriate referral to BRCA1/2 testing also could have significant implications for health care costs and service delivery. Results of Myriad Genetics Laboratories’ direct-to-consumer marketing campaign for BRACAnalysis® lead to a 240% increase in the number of referrals to genetic services within managed care settings (6
) creating delays in patient access to these services (6
). At $3,000 per test in the U.S., BRCA testing and supportive genetic counseling is a significant expenditure of resources (13
Moreover, the patient-clinician conversations required to clarify why a patient is or is not appropriate for genetic service referral may increase visit time in ways that do not directly benefit patient care. This may be particularly true in circumstances in which women present with heightened worry and misperceptions about the factors that contribute to their risk. Insurance status also may further complicate these conversations when women, with health care insurance believe that they have the right to services even if they are not appropriate.
Biases such as under-referral of minority women to BRCA1/2 services also could occur in ways that exacerbate existing racial/ethnic disparities in health delivery (14
). Patient characteristics such as age, race and gender have been noted as reasons for patients not receiving clinically recommended services (16
). However, evidence to date suggests that patient demands for clinical services (18
), including cancer susceptibility testing (20
) are likely to be granted even when deemed inappropriate by the physician (19
). Reasons for these patterns of inappropriate referral have included physician concerns about patient satisfaction and fears of malpractice (23
To this end, the US Preventive Services Task Force (USPSTF) published guidelines in late 2005 to assist clinicians in determining which patients are appropriate for referral to genetic counseling and testing for BRCA1/2 mutations (24
). These guidelines recommend against routine referrals of low-risk women to BRCA1/2 genetic services. While clinicians have indicated favorable attitudes towards practice guidelines (25
), concerns have been raised that guidelines can be too rigid and impractical to incorporate and interfere with physician autonomy, (26
). Further, clinicians may have difficulty applying the USPSTF referral guidelines because they have low levels of confidence in their ability to calculate breast cancer risk and related counseling (4
). Physicians also lack confidence in their ability to discuss mammography screening and to decide whether a patient should be referred for genetic counseling (4
Family physicians (FPs) who provide the majority of primary care in the U.S. (31
) will be fielding the majority of self-referral for BRCA1/2 testing. Thus, FPs’ adherence to USPSTF guidelines has significant implications for the impact of self referral on genetic services and breast cancer screening more generally. FPs’ competence in considering women’s concerns about breast cancer has broader implications for cancer control. For example, inappropriate referral could influence women’s adherence to screening guidelines if they misunderstand indications from their doctors that they are unlikely to have increased familial risk.
This report describes results of an experiment where via a web-based survey, FPs were presented with a hypothetical patient named “Terry” who requests genetic testing but is not appropriate for referral based on USPSTF guidelines. The experiment also tested whether varying “Terry’s” personal characteristics influenced FPs’ referral decisions for BRCA1/2 testing.