A self-administered family history questionnaire improves identification of women who warrant referral to genetic counseling for hereditary cancer risk

ObjectivesThis study was undertaken to assess a self-administered family history questionnaire in order to better identify women within a gynecologic oncology practice for referral to genetic counseling services.MethodsReturning patients at an outpatient gynecologic oncology clinic completed a self-administered family health history questionnaire and a detailed telephone interview. A genetic counselor separately assessed blinded information garnered from the questionnaire, structured genetic interview, and electronic medical records to determine whether these data warranted referral to genetic counseling based on established criteria. The structured genetic interview was considered the gold standard to which the questionnaire and medical record information were compared.ResultsOf the 45 total participants in the study, 26 (58%) were identified from the structured genetic interview as meeting criteria for referral to genetic counseling. The questionnaire identified 21 (81%) of these 26 referrals, while the medical record identified 13 (50%) of these 26 referrals. This led to a 62% increase in referral capture by the questionnaire. The median time to complete the questionnaire was 17 min (range 5–57 min). Thirty-four participants (75.6%) had more family members with cancer identified on the questionnaire compared to the electronic medical record. The questionnaire identified fewer family members with cancer in the five cases that were missed for appropriate referral.ConclusionsCurrent standard clinical practices are insufficient at identifying patients in need of referral to genetic counseling. A self-administered questionnaire improves recognition of candidates for genetic counseling in a gynecologic oncology practice.

► A self-administered family history questionnaire was assessed to identify women for referral to genetic counseling.
► Standard clinical practices are insufficient at identifying patients.
► The questionnaire increased recognition of patients appropriate for genetic counseling.