The Impact of Whole-Genome Sequencing on the Primary Care and Outcomes of Healthy Adult Patients: A Pilot Randomized Trial.

ABSTRACT:

Background

Whole-genome sequencing (WGS) in asymptomatic adults might prevent disease but increase health care use without clinical value.

Objective

To describe the effect on clinical care and outcomes of adding WGS to standardized family history assessment in primary care.

Design

Pilot randomized trial. (ClinicalTrials.gov: NCT01736566).

Setting

Academic primary care practices.

Participants

9 primary care physicians (PCPs) and 100 generally healthy patients recruited at ages 40 to 65 years.

Intervention

Patients were randomly assigned to receive a family history report alone (FH group) or in combination with an interpreted WGS report (FH + WGS group), which included monogenic disease risk (MDR) results (associated with Mendelian disorders), carri

SUBMITTER: Vassy JL 

PROVIDER: S-EPMC5856654 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature