Adult Patients With Undiagnosed Conditions and Their Responses to Clinically Uncertain Results From Exome Sequencing
Completed
Conditions studied: Undiagnosed Disease
In brief
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.
Key facts
- Study ID
- NCT03605004
- Run by
- National Human Genome Research Institute (NHGRI)
- People needed
- 26
- Starts
- 2018-08-13
- Expected to finish
- 2020-05-07
- Last updated by the study team
- 2020-05-11
Who can join
Age: 18 and older, up to 100. Sex: any. Healthy volunteers: not accepted.
You may not qualify if…
- Exome sequencing results provided a genetic diagnosis for the patient that does not fall into one of the above inclusion categories
- Patient was under age 18 at time of clinically uncertain result disclosure
- Patient has a cognitive disability that prevents him/her from comprehensibly answering interview questions
- Patient cannot speak or understand English
- Patients who have since received a genetic diagnosis (from some other mechanism besides their exome sequencing test) may still participate in the study if they are able to recount their experiences around receiving this sort of exome sequencing result during the time they were undiagnosed.
Where it is running
- Johns Hopkins School of Public Health — Baltimore, Maryland, United States
- Kennedy Krieger Institute — Baltimore, Maryland, United States
Full record on ClinicalTrials.gov
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