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

Completed · Not applicable

Conditions studied: Hereditary Disease, Genetic Predisposition to Disease

In brief

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.

Key facts

Study ID

NCT03829176

Run by

Massachusetts General Hospital

People needed

200

Starts

2018-03-01

Expected to finish

2020-10-01

Last updated by the study team

2020-11-18

Who can join

Age: 0 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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).

You may not qualify if…

• Participants who live outside of the United States.
• Non-English-speaking participants.

Where it is running

• Massachusetts General Hospital — Boston, Massachusetts, United States

Full record on ClinicalTrials.gov

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