Genetic assessment of breast cancer risk in primary care practice.

Publication Type:

Journal Article


American journal of medical genetics. Part A, Volume 149A, Issue 3, p.349-56 (2009)


2009, Breast Neoplasms, Center-Authored Paper, Female, Genetic Counseling, Genetic Predisposition to Disease, Humans, Mammography, Medical Oncology, Physician's Practice Patterns, Public Health Sciences Division, Risk Assessment


Family history is increasingly important in primary care as a means to detect candidates for genetic testing or tailored prevention programs. We evaluated primary care physicians' skills in assessing family history for breast cancer risk, using unannounced standardized patient (SP) visits to 86 general internists and family medicine practitioners in King County, WA. Transcripts of clinical encounters were coded to determine ascertainment of family history, risk assessment, and clinical follow-up. Physicians in our study collected sufficient family history to assess breast cancer risk in 48% of encounters with an anxious patient at moderate risk, 100% of encounters with a patient who had a strong maternal family history of breast cancer, and 45% of encounters with a patient who had a strong paternal family history of breast and ovarian cancer. Increased risk was usually communicated in terms of recommendations for preventive action. Few physicians referred patients to genetic counseling, few associated ovarian cancer with breast cancer risk, and some incorrectly discounted paternal family history of breast cancer. We conclude that pedigree assessment of breast cancer risk is feasible in primary care, but may occur consistently only when a strong maternal family history is present. Primary care education should focus on the link between inherited breast and ovarian cancer risk and on the significance of paternal family history. Educational efforts may be most successful when they emphasize the value of genetic counseling for individuals at risk for inherited cancer and the connection between genetic risk and specific prevention measures.