NHGRI Center for Precision Health Research Seminar Series

Bethesda, MD
January 23, 2025
4:00 pm
Virtual
  • Nina Gold, MD
Identification of Treatable Genetic Disorders in Fetuses and Newborns

The National Human Genome Research Institute (NHGRI) Center for Precision Health Research (CPHR) sponsors a monthly series of talks by intramural and special speakers on research relevant to the use of genomic data and large-scale electronic health record information to improve health.

In this seminar, Dr. Nina Gold gives a talk on the identification of treatable genetic disorders in fetuses and newborns. She discusses a proposed framework for a “treatable fetal findings list,” aimed at maximizing the clinical utility of prenatal genomic testing and enhancing the autonomy of pregnant patients. To address questions about the predictive value of such a list, examples related to genomic screening among infants and adults are discussed.

The seminar recording is available here.