Incidentalome from Genomic Sequencing: A Barrier to Personalized Medicine?

ABSTRACT:

Background

In Western cohorts, the prevalence of incidental findings (IFs) or incidentalome, referring to variants in genes that are unrelated to the patient's primary condition, is between 0.86% and 8.8%. However, data on prevalence and type of IFs in Asian population is lacking.

Methods

In 2 cohorts of individuals with genomic sequencing performed in Singapore (total n = 377), we extracted and annotated variants in the 56 ACMG-recommended genes and filtered these variants based on the level of pathogenicity. We then analyzed the precise distribution of IFs, class of genes, related medical conditions, and potential clinical impact.

Results

We found a total of 41,607 variants in the 56 genes in our cohort of 377 individuals. After filtering for rare and coding variant

SUBMITTER: Jamuar SS 

PROVIDER: S-EPMC4816806 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature