UW ISeqU: Clinical Impact of Whole-genome Sequencing in Adults

Enrolling by invitation

Conditions studied: Hereditary Diseases, Critical Illness

In brief

The goal of this study is to learn how clinical whole genome sequencing can help identify diagnoses and guide medical care in adults. The study is based on the hypothesis that genome sequencing will identify a genetic explanation in some adults whose condition has not previously been diagnosed and that some results will change medical care. The main questions it aims to answer are: * How often does genome sequencing identify a genetic diagnosis that explains or contributes to a participant's symptoms? * How do genetic results affect medical care and decision-making? * Is genome sequencing feasible and acceptable to adult patients and families? * Are there differences in access to genetic testing or diagnosis across different groups of patients? Participants will: * Provide a blood sample (often collected during routine care) or cheek swab for genetic testing * Allow researchers to review their medical records * Receive genetic results that will also be shared with their medical team * May be asked to complete a brief survey or interview about their experience Researchers will follow participants over time to understand how genetic testing impacts diagnosis and care.

Key facts

Study ID

NCT07718971

Run by

University of Washington

People needed

1000

Starts

2026-07-01

Expected to finish

2032-07-01

Last updated by the study team

2026-07-22

Who can join

Age: 18 and older, up to 50. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• Person has a medical condition that does not yet have a clear explanation
• Enough medical information is available within the UW Medicine system to evaluate the person's condition and interpret genetic test results
• A blood sample or cheek-swab sample can be collected for genetic testing
• The person does not already have a confirmed genetic diagnosis that fully explains their current medical condition
• The person, or their legally authorized representative when applicable, is willing and able to provide informed consent.

You may not qualify if…

• The current illness has a clear non-genetic explanation, such as a traumatic injury, confirmed overdose or intoxication, or an infection that fully explains the illness
• The person previously had genetic testing specifically for the current condition or symptoms, including prior whole-exome or whole-genome sequencing
• The person is currently incarcerated.
• The person has had a donor stem cell, bone marrow transplant or active blood cancer that makes a sample unsuitable for testing their inherited genetic information

Where it is running

• University of Washington Medical Center — Seattle, Washington, United States

Full record on ClinicalTrials.gov

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