Real world experience with cancer genetic counseling via telephone.

One barrier to genetic testing is the lack of access to genetic counselors. We provided cancer genetic counseling via telephone, through a pilot project for employees of a national health insurer, Aetna, Inc. Knowledge transfer, behavioral intentions, and patient satisfaction were assessed by survey after genetic counseling. Aetna sent an individual email to its employees nationwide notifying them of the availability of a new telephone genetic counseling and testing program and providing a link to take a brief screening questionnaire to determine whether they may be at risk of hereditary cancer. Employees completing the questionnaire received immediate feedback regarding whether there appeared to be a risk of hereditary cancer. If so, they were invited to schedule a telephonic genetic counseling session. After the session, respondents completed an online survey. 397 individuals completed the questionnaire. 39 proceeded with telephone genetic counseling, and 22 completed the follow-up survey, including all 11 women with family history warranting genetic testing. One third reported prior discussion about inherited cancer risk with their primary care provider (PCP); 12% were referred to a geneticist; 20% had an accurate perception of their own cancer risk. After counseling, 94% reported understanding their risk for cancer and 87% were aware of available risk-reduction strategies. 87% of high-risk respondents intended to engage in risk-management interventions. 93% reported high satisfaction. 66% indicated they would not have pursued genetic counseling if it had not been available by phone. Results suggest telephone counseling is a viable option for increasing access to genetic experts. In this sample, telephone counseling increases knowledge of cancer risk, motivates intention to change health-related behaviors, and elicits a high satisfaction level. Consequently, Aetna now offers telephone cancer genetic counseling nationwide as a covered benefit.

BRCA1 and BRCA2 mutations in a study of African American breast cancer patients.

The spectrum of mutations in BRCA1 and BRCA2 among African Americans has not been well characterized because most studies to date have been done in Caucasian families. According to Myriad Genetic Laboratories, Inc., only approximately 3% of individuals undergoing BRCA1/BRCA2 testing reported African American ancestry. Data from previous studies show that among African American women a greater proportion of breast cancer cases are diagnosed at age <45 years in comparison with Caucasians. Because breast cancer occurring at a young age is one of the hallmarks of high penetrance genes, the prevalence, spectrum, and effects of BRCA1/BRCA2 mutations may differ substantially between African Americans and Caucasians, and further investigation is warranted. We conducted a hospital-based study of African American breast cancer patients with early age at diagnosis (A). Our results support previous data in demonstrating that (a) the spectrum of mutations among African Americans is unique, (b) family history of breast cancer is an important predictor of hereditary cancer susceptibility among African Americans, and (c) empirical data may be useful in estimating mutation risk among African Americans.