A Collaborative Approach to Pediatric Genetic Evaluation in the Era of Genomic Medicine

To address the increased demand for genetic services and shortage of medical geneticists (MG), a collaborative pilot program was developed with a two-part approach to care: (1) Initial genetic counselor (GC) appointment with exome sequencing (ES) and (2) follow-up MG evaluation. Nonemergent genetics referrals were reviewed by a GC for eligibility and approved by a MG. The GC appointment included comprehensive medical intake, family history, and ES consent. The GC disclosed ES results, and patients were scheduled for MG evaluation. Forty-five patients were evaluated, with 42 completing ES (93.3%). The program reduced wait time for nonemergent genetics evaluation (12-21 months to 1-5 months) and decreased the no-show rate (9.3%-4.8%). Most patients spoke English (82.2%) and had public insurance (55.6%). ES identified diagnostic likely pathogenic or pathogenic variants in 28.6% (12/42) of patients and clinically suspicious variants of uncertain significance in 19.0% (8/42). There were changes in medical management for 42.9% (18/42) of patients. No patients declined scheduling into this clinic, and limited survey responses indicated family satisfaction. This pilot was effective in decreasing wait times, was well received by families, and expanded genetics access for a single-center pediatric institution with sufficient GC staffing.