Clinical whole-exome sequencing results impact medical management.

ABSTRACT:

Background

Clinical diagnostic whole-exome sequencing (WES) is a powerful tool for patients with undiagnosed genetic disorders. To demonstrate the clinical utility, we surveyed healthcare providers (HCP) about changes in medical management and treatment, diagnostic testing, reproductive planning, and use of educational services subsequent to WES testing.

Methods

For a period of 18 months, an 18-question survey was sent to HCPs attached to the WES reports. We analyzed the molecular diagnosis, patient clinical features, and the medical management changes reported in the returned surveys.

Results

A total of 62 (2.2% of 2,876) surveys were returned, consisting of 37.1% patients with a positive or likely positive pathogenic alteration, 51.6% negative results, 9.7% uncertai

SUBMITTER: Niguidula N 

PROVIDER: S-EPMC6305629 | biostudies-literature | 2018 Nov

REPOSITORIES: biostudies-literature