Related Experiment Video
Updated: Jan 12, 2026
Author Spotlight: Finding New Therapeutic Targets for Malignant Peripheral Nerve Sheath Tumor Through Genome-Scale shRNA Screens
Published on: August 25, 2023
Performance of recommended management among pediatric patients identified through genomic screening
Juliann M Savatt1, Gretchen M Urban1, Alyson E Floyd1
1Department of Genomic Health, Geisinger, Danville, PA, United States.
Insights
Genomic screening in children shows that while many with pediatric-onset results received some care, gaps remain. Adult-onset results did not lead to inappropriate care, easing concerns about potential harms.
Area of Science:
- Genomic medicine
- Pediatric healthcare
- Clinical genetics
Background:
- Population screening identifies genomic risk for conditions across the lifespan.
- Concerns exist regarding the impact of pediatric genomic screening, specifically for pediatric-onset versus adult-onset findings.
Purpose of the Study:
- To evaluate healthcare behaviors following genomic risk identification in pediatric participants.
- To assess completion of recommended management for pediatric-onset results.
- To examine inappropriate care for adult-onset findings in the Pediatric Reporting of Genomic Results Study (PRoGRESS).
Main Methods:
- Recruited pediatric participants and relatives from the Geisinger MyCode biobank.
- Reviewed electronic health records for adherence to recommended care post-genomic results disclosure.
- Focused on participants with pathogenic/likely pathogenic (P/LP) variants in actionable genes.
Main Results:
- 31 participants had pediatric-onset results, and 34 had adult-onset results.
- 48% of eligible participants with pediatric-onset results were fully adherent to care; 22% completed some care.
- No participants with adult-onset results engaged in inappropriate care.
Conclusions:
- Many pediatric-onset genomic results led to some management, but care gaps persist.
- Adult-onset genomic findings did not result in nonrecommended care, alleviating theoretical harm concerns.
- Opportunities exist to improve downstream care facilitation for pediatric genomic screening results.
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.
More Related Videos
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
09:34Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Related Concept Videos
02:46Genetic Screens
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
01:26Pharmacokinetics in Pediatric Patients: Drug Excretion
01:24Pharmacokinetics in Pediatric Patients: Drug Metabolism