Article
Family genetic risk communication and reverse cascade testing in the BabySeq project.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2025
Uveges Melissa K, Smith Hadley Stevens, Pereira Stacey, Genetti Casie, McGuire Amy L, Beggs Alan H, Green Robert C, Holm Ingrid A
Abstract excerpt
PURPOSE: Genomic sequencing of newborns can initiate disease surveillance and therapy for children and may identify at-risk relatives through reverse cascade testing. We explored genetic risk communication and reverse cascade testing among families of newborns who underwent exome sequencing and were identified as having a risk for an autosomal dominant disease. METHODS: We conducted semistructured interviews with...
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