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Article

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.

European journal of human genetics : EJHG - 1 Nov 2020

Ormondroyd Elizabeth, Harper Andrew R, Thomson Kate L, Mackley Michael P, Martin Jennifer, Penkett Christopher J, Salatino Silvia, Stark Hannah, Stephens Jonathan, Watkins Hugh

Abstract excerpt

Disclosing secondary findings (SF) from genome sequencing (GS) can alert carriers to disease risk. However, evidence around variant-disease association and consequences of disclosure for individuals and healthcare services is limited. We report on the feasibility of an approach to identification of SF in inherited cardiac conditions (ICC) genes in participants in a rare disease GS study, followed by targeted...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 32686758
DOI: 10.1038/s41431-020-0694-9
PMCID: PMC7576165

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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