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

NCT03605004 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 26

Last updated 2020-05-11

No results posted yet for this study

Summary

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.

Conditions

  • Undiagnosed Disease

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Lori Erby, Ph.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2018-08-13
Primary Completion
2020-05-07
Completion
2020-05-07

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 NCT03605004 on ClinicalTrials.gov