A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.

ABSTRACT:

Purpose

While the diagnostic success of genomic sequencing expands, the complexity of this testing should not be overlooked. Numerous laboratory processes are required to support the identification, interpretation, and reporting of clinically significant variants. This study aimed to examine the workflow and reporting procedures among US laboratories to highlight shared practices and identify areas in need of standardization.

Methods

Surveys and follow-up interviews were conducted with laboratories offering exome and/or genome sequencing to support a research program or for routine clinical services. The 73-item survey elicited multiple choice and free-text responses that were later clarified with phone interviews.

Results

Twenty-one laboratories participated. Practic

SUBMITTER: O'Daniel JM 

PROVIDER: S-EPMC5415437 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature