Clinical Genomics

A New Tool Opens New Door to Personalized Genetic Risk Assessment
A New Tool Opens New Door to Personalized Genetic Risk Assessment 1024 574 Madison Storm
Science Inspired Abstract Art - An abstract composition inspired by scientific elements like beakers, test tubes, or molecular structures, chemistry, biology, physics

PGS Browser integrates thousands of polygenic scores and provides new tools and resources for their interpretation, helping to bridge the gap between genomic research and clinical application. A new study led by investigators from the Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children’s is helping make genetic information more accessible through a public platform…

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
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
close up of a researcher with blue gloves inject liquid into vials.

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…