Value of a genetics clinic evaluation in identifying women at risk for hereditary breast-ovarian cancer syndrome

Our work evaluates the contributions of a genetics clinic visit in assessing patients' risk of hereditary cancers and in meeting National Cancer Comprehensive Network (NCCN) criteria for genetic testing. We reviewed the electronic health records (EHR) of 56 women seen for medical care in our healthcare system who were subsequently seen in the Adult Genetics Clinic. We searched for all personal or family cancer history available in either free-text or structured form within the EHR prior to the genetics visit. For each patient, we then compared the aggregate data with the pedigree information obtained at the Genetics Clinic visit for first-, second-, and third-degree relatives. During the genetics clinic visit, the number of relatives with cancer diagnoses doubled from 121 to 235, and for 17 of 56 (30%) of patients, family histories changed one or more NCCN criteria. For 39/56 (70%) of patients, the family history in the EHR was not changed during the genetics clinic visit. Of 56 women referred to the genetics clinic, 45 (80%) met NCCN guidelines for testing, 40 women underwent genetic testing, and 9 of 40 (23%) tested were positive for a Likely Pathogenic or Pathogenic (LP/P) variant. This study of 56 women quantitatively demonstrates the value of a genetics clinic visit by improved identification of key family history components.