RNA to the RESCUE: Evaluation to Assess the Clinical Utility of RNA Sequencing in Establishing a Genetic Diagnosis or Adjudicating a Previously Established Genetic Diagnosis.

Purpose

The goal of this observational study is to see if ribonucleic acid (RNA) sequencing can improve the diagnostic yield and accuracy of genetic testing compared to gene sequencing alone. Participants will be asked to share their medical history and prior genetic testing results, and to donate a blood sample for testing.

Conditions

  • Genetic Conditions
  • Genetic Disorders

Eligibility

Eligible Ages
Over 2 Years
Eligible Sex
All
Accepts Healthy Volunteers
No

Inclusion Criteria

  • individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology - individuals who have undergone genetic testing and who are found to have a truncating variant classified as pathogenic in a disease-causing gene but lack many/all symptoms typically associated with the disorder.

Exclusion Criteria

  • none

Study Design

Phase
Study Type
Observational
Observational Model
Case-Only
Time Perspective
Other

Arm Groups

ArmDescriptionAssigned Intervention
No genetic diagnosis Individuals who have previously undergone gene panel testing, WES or WGS with no diagnostic findings but with high suspicion for a genetic etiology
  • Device: RNA sequencing
    Total RNA will be isolated from blood samples, processed, and analyzed to compare the RNA-Seq profile of each participant.
No symptomatology Individuals who have undergone genetic testing and who are found to have a truncating variant classified as pathogenic in a disease-causing gene but lack many/all symptoms typically associated with the disorder
  • Device: RNA sequencing
    Total RNA will be isolated from blood samples, processed, and analyzed to compare the RNA-Seq profile of each participant.

Recruiting Locations

University of California, San Francisco
San Francisco, California 94159
Contact:
Janice Light
415-502-6184
janice.light@ucsf.edu

More Details

Status
Recruiting
Sponsor
University of California, San Francisco

Study Contact

Janice Light
415-502-6184
janice.light@ucsf.edu

Detailed Description

Participant will come on site for a one-time blood draw. Study personnel will review prior medical history, family history, and prior genetic testing results gathered from the participant's medical record, along with analysis of RNA sequencing results derived from participant's blood sample. Results will be shared with participants through their clinical geneticist.