Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder

NACompletedINTERVENTIONAL
Enrollment

200

Participants

Timeline

Start Date

March 1, 2018

Primary Completion Date

October 1, 2020

Study Completion Date

October 1, 2020

Conditions
Hereditary DiseaseGenetic Predisposition to Disease
Interventions
GENETIC

Whole Genome Sequencing

Participants in this arm will have their sample analyzed by whole genome sequencing (WGS), and a report will be included in their medical record. Analysis will be phenotype-driven (gene list will be curated based on primary indication for testing and other available medical history information), and may include genes on ACMG 59 list if participant elects for these results. This report will include pathogenic, likely pathogenic, and suspicious VUS results identified in the genes analyzed.

Trial Locations (1)

02114

Massachusetts General Hospital, Boston

Sponsors
All Listed Sponsors
collaborator

Broad Institute of MIT and Harvard

OTHER

collaborator

Laboratory for Molecular Medicine

UNKNOWN

lead

Massachusetts General Hospital

OTHER