Reading the blueprint: could Full-Genome sequencing crack Hard-to-Diagnose cases?
NCT ID NCT07718971
First seen Jul 22, 2026 · Last updated Jul 23, 2026 · Updated 1 time
Summary
This study explores whether whole-genome sequencing can uncover genetic causes in adults with unexplained medical conditions. One thousand participants will provide a blood or cheek-swab sample and allow researchers to review their medical records. The goal is to see how often sequencing identifies a diagnosis and whether those results change medical care.
What this could mean
Our plain-language read of the trial. This is informational only — not medical advice or a prediction.
- Active substance
- Clinical whole-genome sequencing of blood or cheek-swab DNA, with optional family analysis and return of results
- What this could lead to
- If successful, this could show that routine genome sequencing helps diagnose previously unexplained conditions and guides more personalized medical care.
- What could go wrong
- The study is observational and does not test a treatment. Many participants may receive no clear genetic answer, and results may not change care for everyone.
This is an AI summary of the original study and may miss details. Read our disclaimer.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
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Locations
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University of Washington Medical Center
Seattle, Washington, 98195, United States
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