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Reading the blueprint: could Full-Genome sequencing crack Hard-to-Diagnose cases?

NCT ID NCT07718971

Knowledge-focused Sponsor: University of Washington Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only This study
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

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.

Study facts

What this study's own registry entry says, in plain language.

Participants

About 1,000 people

The number the study aims to enrol. It can still change while the study runs.

Started

Jul 2026

Expected to finish

Jul 2032

An estimate. End dates often move.

Lead sponsor

Other sponsor

The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

University of Washington - Montlake Campus or Harborview Medical Center Seattle, WA, USA

Ages

18 to 50 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

Inclusion Criteria: * 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. Exclusion Criteria: * 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

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Conditions

The condition(s) this trial relates to.

Critical Illness hereditary disease Undiagnosed Diseases

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Critical illness Hereditary diseases

How to take part

Only the study team decides who joins. These are the ways to reach them.

  1. The places running it

    1 site. The list below names each one and where it is.

  2. The official record

    The full official record for this study. This one lists no contact details, but it is the first place any would appear.

    Open the record ↗

  3. A doctor treating you

    A doctor who knows your case can contact a study site on your behalf, and can tell you whether this study is worth pursuing at all.

Contacts and locations

Locations

  • University of Washington Medical Center

    Seattle, Washington, 98195, United States

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