Family genetic risk communication and reverse cascade testing in the BabySeq project.

ABSTRACT:

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 parents of newborns enrolled in the BabySeq Project who had a pathogenic or likely pathogenic variant associated with an autosomal dominant childhood- and/or adult-onset disease returned. We used directed content analysis to derive themes.

Results

From 11 families, all first-degree relatives (n = 32, 100%), 29 second-degree relatives (76%), and 26 third-degree

SUBMITTER: Uveges MK 

PROVIDER: S-EPMC12264819 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature