The project seeks to understand how genome sequencing as a first-line diagnostic in infants with likely hereditary disorders can impact long-term health outcomes.
HudsonAlpha researchers analyzed the genomes of parents whose children were in a study of developmental delay and intellectual disability for secondary findings.
Speakers at HudsonAlpha's Genomic Medicine Conference said while sequencing results sometimes result in a diagnosis and change in care, they often have no consequence.
HudsonAlpha's Greg Barsh described results from a Clinical Sequencing Exploratory Research project during the institute's ongoing Genomic Medicine Conference.
