Inherited Disease
News on Mendelian diseases, hereditary cancer, variant classification, cystic fibrosis testing and more.
The Sunshine Genetics Act would establish a consortium that plans to sequence 10,000 newborns for up to 600 rare conditions.
ACMG, NSGC, and others in the genetics community are monitoring whether the widely used online clinical genetics database could be at risk.
Researchers Propose 'Treatable Fetal Findings' Gene List for Fetal Diagnostic Genome Sequencing
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The current ACMG secondary findings gene list focuses on adult-onset disorders and does not apply to fetal genome sequencing tests.
Cystic Fibrosis Newborn Screening to Include All Genetic Variants, Foundation Suggests
The US Cystic Fibrosis Foundation (CFF) released new guidelines for screening newborns for cystic fibrosis (CF)-causing gene variants.
The organizations launched the clinical trial to assess clinical utility of whole-genome sequencing in cardiovascular disease care.