A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.

ABSTRACT:

Purpose

As genome-scale sequencing is increasingly applied in clinical scenarios, a wide variety of genomic findings will be discovered as secondary or incidental findings, and there is debate about how they should be handled. The clinical actionability of such findings varies, necessitating standardized frameworks for a priori decision making about their analysis.

Methods

We established a semiquantitative metric to assess five elements of actionability: severity and likelihood of the disease outcome, efficacy and burden of intervention, and knowledge base, with a total score from 0 to 15.

Results

The semiquantitative metric was applied to a list of putative actionable conditions, the list of genes recommended by the American College of Medical Genetics and Genomics (

SUBMITTER: Berg JS 

PROVIDER: S-EPMC4752935 | biostudies-literature | 2016 May

REPOSITORIES: biostudies-literature