NCT03605004

Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing

Completed Last updated 11 May 2020

What this trial tests

trial in Undiagnosed Disease in 26 participants. Completed in 7 May 2020.

Timeline

13 August 2018

Primary endpoint
7 May 2020

7 May 2020

Quick facts

Lead sponsor	National Human Genome Research Institute (NHGRI)
Status	Completed
Study type	OBSERVATIONAL
Enrollment	26
Start date	13 August 2018
Primary completion	7 May 2020
Estimated completion	7 May 2020
Sites	2 locations across United States

Conditions studied

• Undiagnosed Disease — all drugs for Undiagnosed Disease →

Sponsor

National Human Genome Research Institute (NHGRI)

Who can join

Adults 18 to 100, any sex, with Undiagnosed Disease. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

Background:

People with conditions that are unknown or hard to diagnose may be helped by a genetic technique. It is called exome sequencing. It helps diagnose disease by unlocking all the data in a person s genetic code. But the results from it are often unclear. Uncertain results can pose problems for doctors and patients. Researchers want to learn more about how people respond when they get uncertain results.

Objective:

To study the psychological and behavioral effects of getting uncertain results from exome sequencing.

Eligibility:

Adults who have:

Had a diagnostic odyssey for at least 6 months. An example is having clinical symptoms but no diagnosis.

And had exome sequencing to try to reach a diagnosis.

Design:

Participants will choose a date and time for their interview. They will sign a form to give consent and authorization.

Participants will fill out 2 forms. One is the Intolerance of Uncertainty Short Form Scale. The other is the Perceptions of Uncertainties in Genome Sequencing Scale.

Both scales ask about what it is like to get clinically uncertain results from exome sequencing. They focus on coping and other behavioral responses.

Participants will have a phone interview. It will last for 45-60 minutes. It will be recorded and transcribed.

At the start of the call, the researcher will review the consent form with the participant. Participants will give data such as race, education, income, and how long they have been looking for a diagnosis.

Participants will read their responses to the 2 scales during the interview.

Publications & conference data

1 peer-reviewed publication reference this trial (live from Europe PMC):

1. Genome-Wide Sequencing for Unexplained Developmental Disabilities or Multiple Congenital Anomalies: A Health Technology Assessment.
   Ontario Health (Quality) . · · 2020 · cited 43× · PMID 32194879