Project:
Breast Cancer Genetic Testing: Interpreting and Communicating Uncertainty of BRCA Results

Principal Investigator - Galen Joseph, PhD

ABSTRACT

BRCA1 and BRCA2 exemplify genetic discoveries that quickly moved from bench to bedside. Most research examining this rapid translation has focused on BRCA-positive women. These women, however, represent less than 20% of all who undergo BRCA testing in the US. Most BRCA test results are "uninformative," meaning no deleterious mutation is found in the BRCA1/2 genes, and no other family members have received positive BRCA1/2 results. For these individuals and their families, the strong family history of cancer that qualified them for genetic testing remains unexplained, their risk status is uncertain, and there are no clear recommendations to follow other than routine screening. For these cases, clinicians must estimate risk based on family history and clinical factors to guide screening. Patients also face the responsibility of communicating these inconclusive results and their implications to other family members. In addition to the gap in clinical knowledge regarding uninformative BRCA results, there are limitations of extant BRCA communication research, including that most studies have focused on women with positive results; none has specifically examined underserved or ethnic minority women; and reasons for unwillingness to disclose results to family members are not yet understood. The proposed T2 translational study will begin to fill these gaps by examining, with an ethnically and economically diverse sample, (1) patients' interpretations of uninformative BRCA test results, (2) how and why the tested individual communicates these results to family members, and (3) how the patient's family members interpret the information they receive from the patient. Employing qualitative ethnographic methods with patients in the Cancer Risk Program at UCSF and San Francisco General Hospital, the proposed research will use direct observations of genetic counseling sessions and interviews with patients, their at-risk family members, and genetic counselors to illuminate lay interpretation of and family communication about uninformative BRCA test results. Qualitative research is particularly useful for exploratory inquiry in which the goal is to describe complex phenomena as it occurs in a natural context. The proposed ethnographic method is inductive, and is thus designed to generate hypotheses. The data collected in this exploratory study will be used to develop a career development award application that will test the hypotheses generated by this exploratory research.