Status:
COMPLETED
Investigating the Feasibility and Implementation of Whole Genome Sequencing in Patients With Suspected Genetic Disorder
Lead Sponsor:
Massachusetts General Hospital
Collaborating Sponsors:
Broad Institute of MIT and Harvard
Laboratory for Molecular Medicine
Conditions:
Hereditary Disease
Genetic Predisposition to Disease
Eligibility:
All Genders
3+ years
Phase:
NA
Brief 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 seq...
Detailed Description
The goal of this research protocol is to conduct a randomized clinical trial to assess the benefits and risks of incorporating whole genome sequencing (WGS) as a first line diagnostic test in various ...
Eligibility Criteria
Inclusion
- Participants of any gender over the age of 3 months.
- Participants (ages 7+) must be proficient in English. If the participant is under the age of 7 or is over the age of 7 and non-verbal, these criteria apply to their parent who is providing consent.
- Participant is being evaluated clinically at an Partners HealthCare genetics clinic, and not had a prior genetic work up for their referral indication.
- Have a suspected genetic disorder in which the genetic cause is unknown, as confirmed by review of the subject's medical records.
- Genetic testing has been ordered for the participant by their clinical genetics provider as part of a diagnostic workup.
- Willing and able to provide a blood sample. The amount of blood drawn from a patient will be 2 teaspoons or less.
- Ability to provide informed consent or assent to participate in this protocol. Children who have not attained the legal age of consent must provide assent (those who do not have the capacity to assent must not object to taking part), along with permission from the child's parent(s) or guardian. Adults who are unable to consent must be able to provide assent or must not object to taking part, along with permission from their legal authorized representative (LAR).
Exclusion
- Participants who live outside of the United States.
- Non-English-speaking participants.
Key Trial Info
Start Date :
March 1 2018
Trial Type :
INTERVENTIONAL
Allocation :
ACTUAL
End Date :
October 1 2020
Estimated Enrollment :
200 Patients enrolled
Trial Details
Trial ID
NCT03829176
Start Date
March 1 2018
End Date
October 1 2020
Last Update
November 18 2020
Active Locations (1)
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1
Massachusetts General Hospital
Boston, Massachusetts, United States, 02114