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Observational Study of Whole-Genome Sequencing in Adults

This study, called UW ISeqU, is looking at how whole-genome sequencing (a test that looks at all of your genes) can help doctors understand and treat adults with medical conditions that don't have a clear explanation. Researchers want to see how often this test can find a genetic cause for these conditions and if it changes how doctors provide care. They also want to understand if this type of testing is practical and acceptable to patients and their families. You might be able to join if you are between 18 and 50 years old, have an unexplained medical condition, and enough of your medical information is available at UW Medicine. The study aims to enroll 1000 participants.

Study design
This is an observational study, meaning researchers will watch and collect information about 1000 participants. It is not a treatment study, but rather looks at the impact of whole-genome sequencing.
What's involved
You would provide a blood or cheek-swab sample for genetic testing. The study team will also collect your medical information relevant to the genetic results.
Compensation
Not stated in the trial record.
Follow-up
The primary goal of the study, diagnostic yield, will be measured through study completion, which is an average of 3 years.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

NCT07718971

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

Enrolling by Invitation
Not specifiedAges 18–50Observational
University of Washington
~1,000 participants
Updated 2026-07-22 on ClinicalTrials.gov
What's tested:Genome sequencing

At a glance

Recruiting sites
0 of 1 listed site is recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
Diagnostic Yield of Clinical Genome Sequencing
Measured over Through study completion, an average of 3 years

Conditions

Hereditary Diseases
Critical Illness

Explore related trials

Critical IllnessGenetic DisorderUndiagnosed Diseases

Where it's being run

1 sites across 1 states
Washington1

Study leadership

  • Evonne McArthur, MD, PhD · PRINCIPAL_INVESTIGATOR · University of Washington
  • Danny E Miller, MD, PhD · STUDY_DIRECTOR · University of Washington

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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

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

What this trial measures

  • Diagnostic Yield of Clinical Genome SequencingThrough study completion, an average of 3 years

    Number and percentage of participants with one or more definitive or possible diagnostic findings on clinical genome sequencing. This will be further stratified as secondary outcome measures by clinical and demographic characteristics.