A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.

ABSTRACT:

Purpose

Genome and exome sequencing can identify variants unrelated to the primary goal of sequencing. Detecting pathogenic variants associated with an increased risk of a medical disorder enables clinical interventions to improve future health outcomes in patients and their at-risk relatives. The Clinical Genome Resource, or ClinGen, aims to assess clinical actionability of genes and associated disorders as part of a larger effort to build a central resource of information regarding the clinical relevance of genomic variation for use in precision medicine and research.

Methods

We developed a practical, standardized protocol to identify available evidence and generate qualitative summary reports of actionability for disorders and associated genes. We applied a semiquantitati

SUBMITTER: Hunter JE 

PROVIDER: S-EPMC5085884 | biostudies-literature | 2016 Dec

REPOSITORIES: biostudies-literature