Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies.

ABSTRACT:

Purpose

The aim of this study was to develop, operationalize, and pilot test a transparent, reproducible, and evidence-informed method to determine when to report incidental findings from next-generation sequencing technologies.

Methods

Using evidence-based principles, we proposed a three-stage process. Stage I "rules out" incidental findings below a minimal threshold of evidence and is evaluated using inter-rater agreement and comparison with an expert-based approach. Stage II documents criteria for clinical actionability using a standardized approach to allow experts to consistently consider and recommend whether results should be routinely reported (stage III). We used expert opinion to determine the face validity of stages II and III using three case studies. We evaluate

SUBMITTER: Goddard KA 

PROVIDER: S-EPMC3927794 | biostudies-literature | 2013 Sep

REPOSITORIES: biostudies-literature