Clinical Genomics

ACMG Issues Primer on Regulation of Laboratory-Developed Tests
ACMG Issues Primer on Regulation of Laboratory-Developed Tests 1024 683 Lauren Dembeck

The new statement, co-authored by a Nationwide Children’s laboratory geneticist, outlines how lab-developed tests are regulated and offers patient-centered recommendations for modernizing oversight. Laboratory-developed tests (LDTs) are validated testing protocols developed by certified clinical laboratories for patient care and play an essential role in diagnosing and guiding treatment for many conditions that affect pediatric patients.…

Clinical Genomics: From Research to Reality
Clinical Genomics: From Research to Reality 1024 716 Abbie Miller

Without genomic sequencing, many genetic diseases would never be diagnosed. Genomic testing — whole exome or whole genome sequencing — is vital to reducing the diagnostic odyssey for children with rare, undiagnosed disease. But is genetic analysis only useful in these cases? Experts across the country have long suggested that genomic testing can be even…