Journal Article

Performance of recommended management among pediatric patients identified through genomic screening

Savatt, Juliann M, Williams, Marc S, Urban, Gretchen M, Hu, Yirui, Leitzel, Tracey, Buchanan, Adam H, Floyd, Alyson E, Murray, John A.C

2025

Overview

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 nonrec-ommended care, suggesting this theoretical harm is not being realized. Clinical Trials Registration: NCT03832985. Population screening for genetic variants that increase risk for disease can identify individuals with risk and prompt relevant downstream care to catch diseases early and improve outcomes. Although studies have examined population screening in adults, questions remain regarding the benefits and harms of identifying genetic risk in children. This study examined downstream care in children identified with genomic risk. We were interested in whether children with a pediatric-onset result, for which recommended care begins in childhood, had received recommended care. We also wanted to know whether children with an adult-onset result, for which care is not recommended until adulthood, had received care that would not yet be recommended. We reviewed the completion of recommended care in patients with pediatric-onset results and any inappropriate care in those with adult-onset results. Sixty-five pediatric participants were included in the study. Their medical records were reviewed for care leading up to and for at least 6 months following identification and return of the genetic result. Results demonstrated that pediatric-onset results prompted relevant care, but opportunities remain to ensure that all appropriate care is completed. Adult-onset results did not result in inappropriate care. Keywords: genomic screening; pediatric genetics; cardiovascular genetics; cancer genetics; return of results

• Publisher: Oxford University Press
• Subject: Adults / Cancer / Children / Diagnosis / Genes / Genetic screening / Health aspects / Medical records / Medical research / Medicine, Experimental / Pediatrics