Ontology highlight
ABSTRACT:
SUBMITTER: Niguidula N
PROVIDER: S-EPMC6305629 | biostudies-literature | 2018 Nov
REPOSITORIES: biostudies-literature
Niguidula Nancy N Alamillo Christina C Shahmirzadi Mowlavi Layla L Powis Zöe Z Cohen Julie S JS Farwell Hagman Kelly D KD
Molecular genetics & genomic medicine 20181014 6
<h4>Background</h4>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.<h4>Methods</h4>For a period of 18 months, an 18-question survey was sent to HCPs attached to the WES reports. We analyzed the molecular ...[more]