Power of the pedigree: Specialty referrals from a pharmacogenomics clinic

Pharmacogenomic testing, or genetic testing to inform medication selection and dosing, is now available to patients through various practice models including dedicated pharmacogenomics clinics that may include a genetic counselor as part of the team. Although collecting a family medication history may be part of a pharmacogenomics clinic workflow, collecting a comprehensive family history to uncover disease-related genetic risks is generally not. The purpose of this study was to summarize the number and type of specialty referrals made by a genetic counselor embedded in a pharmacogenomics clinic as a result of collecting a comprehensive family history and conducting a risk assessment. Of the 322 new patient appointments in the Brigham and Women's Hospital Pharmacogenomics Clinic between March 1, 2019 and March 7, 2025, a comprehensive (three-generation) pedigree was collected for 279 patients. A total of 91 unique specialty referrals (82 genetics-related referrals, 9 nongenetics-related referrals) were offered to 85 of the 279 patients with a comprehensive pedigree collected (30%). The majority of referrals made were for cancer genetics (69%; n = 63), and of these patients, 83% (n = 52) were referred based only on family history information, with no personal history that would have prompted a referral to cancer genetics. The high volume of specialty referrals made within a pharmacogenomics clinic based on family history highlights the value of having a genetic counselor collect a comprehensive pedigree as standard practice in any genetics-based encounter.