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Table 1 Study sites that identified medically relevant incidental genetic findings in pediatric patients

From: Return of non-ACMG recommended incidental genetic findings to pediatric patients: considerations and opportunities from experiences in genomic sequencing

Study

Aims

SouthSeq

SouthSeq is performing genome sequencing to diagnose infants suspected to have genetic disorders. The study is also running a clinical trial to develop and test different return of results mechanisms to expand access to genetic testing to diverse, underserved communities across the Southeastern US.

KidsCanSeq

The Baylor College of Medicine KidsCanSeq Study aims to assess the utility of genome-scale testing, compared with more targeted methods, in diverse pediatric cancer patient populations and diverse healthcare settings in Texas.

P3EGS

The UCSF Program in Prenatal and Pediatric Genome Sequencing (P3EGS) is studying the utility of exome sequencing as a tool to diagnose infants and children with serious developmental disorders and provide genetic information to parents when a prenatal study reveals a fetus with a structural anomaly.

COAGS

The Children’s of Alabama Genome Sequencing study (COAGS) is conducting genome sequencing for pediatric patients with rare disease phenotypes and is working to identify clinical indicators that may predict the likelihood of genetic diagnosis using genome testing.