Performance of recommended management among pediatric patients identified through genomic screening.

BACKGROUND: Population screening can identify genomic risk for medically actionable conditions with onset across the lifespan. In pediatric patients, questions persist regarding the positive healthcare impact of screening for pediatric-onset results and the potential harms of returning adult-onset findings. PURPOSE: The Pediatric Reporting of Genomic Results Study (PRoGRESS) included an observational cohort study of healthcare behaviors following genomic risk identification in pediatric participants, including completion of recommended management in individuals with pediatric-onset results and inappropriate care in participants with adult-onset findings. METHODS: Study participants were recruited via the Geisinger MyCode biobank. Pediatric MyCode participants and at-risk pediatric relatives of adult MyCode participants with actionable genomic findings identified on their research exome were invited to participate in the study before receiving genomic results. Electronic health records of participants with pathogenic/likely pathogenic (P/LP) variants were reviewed for completion of and adherence to recommended care at least 6-month post-results disclosure. RESULTS: Sixty-five participants (age 0.2-18 years) were identified with a P/LP variant in a medically actionable study gene. Thirty-one participants (48%) received a pediatric-onset result; 34 (52%) received an adult-onset result. Thirteen of the 27 participants with pediatric-onset results eligible for management (48%) were adherent to all care; an additional 6 (22%) completed some care. No participants with adult-onset results completed inappropriate care. CONCLUSIONS: Most participants who received pediatric-onset results completed some management recommendations, though significant care gaps persisted, highlighting an opportunity to facilitate downstream care. Participants who received adult-onset results did not complete nonrecommended care, suggesting this theoretical harm is not being realized. CLINICAL TRIALS REGISTRATION: NCT03832985.