This study is using genomic sequencing to search for potential genetic causes of undiagnosed diseases. The study requires a meeting with a study coordinator and a blood draw.
- Trial ID:
- Eric J Topol, MD
- Have a disease or condition that, despite ongoing care and follow-up by a physician or other health care provider, remains undiagnosed.
- The disease or condition may benefit from the use of genomic strategies for suggesting new diagnoses and/or novel interventions (i.e., the symptoms appear genetic based on either family history or a sign that the symptoms have a shared underlying cause)
- Has disease or condition that is serious and/or severe (i.e., life and/or quality-of-life threatening as determined by the Clinician Panel)
- Has a life expectancy of more than 6 months
- Has a physician who is willing to participate in the study, who will accept responsibility for return of genomic results and any clinical decision-making on the basis of any results provided
- Has a significant medical or psychiatric condition, which, in the medical judgment of the Clinician Panel, may interfere with participation
- Is unwilling or unable to grant informed consent if they do not have a legal guardian who has authority to sign a consent form on their behalf.