CompletedNot Applicable

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

United States26 participantsStarted 2018-08-13

Plain-language 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.

Who can participate

Age range18 Years – 100 Years

SexALL

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AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

* INCLUSION CRITERIA: * Had endured a diagnostic odyssey of at least 6 months before receiving exome sequencing. A diagnostic odyssey may be defined as: * Having a set of clinical symptoms but no diagnosis OR * Having a clinical diagnosis of a broad category of disease (i.e. ataxia, muscular dystrophy) but no specific diagnosis OR * Having a clinical diagnosis composed of psychosomatic and/or descriptive diagnoses that individually define single symptoms or groups of symptoms (i.e. migraines, IBS, joint pain), but that do not explain the entire phenotype * and Had exome sequencing in an attempt to attain diagnosis * and Received post-test counseling for exome sequencing by a genetic counselor * and Received a clinically uncertain result from exome sequencing. For the purposes of this study, a clinically uncertain result is defined as one of the following options: * One or more VUSs * A negative test result (no reported variants) * and Result disclosure for exome sequencing occurred anywhere from 1 week to 7 years prior to being interviewed EXCLUSION CRITERIA: * 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 d…

What they're measuring

Recall and Perception

Timeframe: Interview

Affective and Behavioral Responses

Timeframe: Interview

Trial details

NCT IDNCT03605004

SponsorNational Human Genome Research Institute (NHGRI)

Sponsor typeNIH

Study typeOBSERVATIONAL

Primary completion2020-05-07