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

NCT03829176 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 200

Last updated 2020-11-18

No results posted yet for this study

Summary

The study "Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder" is a research study that aims to explore the use of whole genome sequencing as a potential first line genetic test for patients for which a genetic diagnosis is suspected. This is an internally funded research study.

The investigators will enroll 500 participants who are being seen in one of the various genetics clinics within the Partners HealthCare system for a suspected genetic disorder for which standard-of-care genetic testing is ordered. At the time of their standard-of-care genetic testing, an extra blood sample will be collected, and genome sequencing may be performed. Within 3-4 months, patients learn if they received genome sequencing or not, and any results are returned and explained. Investigators are also studying the experiences of both participants and their providers to better understand how to implement genome sequencing into clinical care.

Conditions

  • Hereditary Disease
  • Genetic 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.

Sponsors & Collaborators

  • Broad Institute of MIT and Harvard

    collaborator OTHER

  • Laboratory for Molecular Medicine

    collaborator UNKNOWN

  • Massachusetts General Hospital

    lead OTHER

Principal Investigators

  • Sekar Kathiresan, MD · Massachusetts General Hospital

Study Design

Allocation
RANDOMIZED
Purpose
DIAGNOSTIC
Masking
DOUBLE
Model
PARALLEL

Eligibility

Min Age
3 Months
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-03-01
Primary Completion
2020-10-01
Completion
2020-10-01

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT03829176 on ClinicalTrials.gov