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Clinical Genomics

Planning Starts During Pregnancy for the Fastest Genome Sequencing in the NICU
 Planning Starts During Pregnancy for the Fastest Genome Sequencing in the NICU 1024 683 Jessica Nye, PhD
By: Jessica Nye, PhD
Baby in a NICU bed with nasal canula. Swaddled in white blanket with health care worker's hand gently resting on the baby.

Genome sequencing (GS) has become standard for babies with congenital anomalies in the neonatal intensive care unit (NICU) at Nationwide Children’s.   To ensure that clinicians have access to genomic results as soon as possible, GS coordination is moving to the gestational period for families who are anticipating NICU care after delivery. A commentary about…

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