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

NCT07718971 | Enrolling By Invitation

• 2 other identifiers: STUDY00025204RG1126449
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Hereditary Diseases; Critical Illness

Keywords

genetic; genome sequencing; rapid whole genome sequencing; adult genetics; undiagnosed disease; critical illness genetics

Outcome Measures

Primary Outcomes (1)

• Diagnostic Yield of Clinical Genome Sequencing

  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.

  Through study completion, an average of 3 years

Secondary Outcomes (1)

• Short-term and long-term changes in medical management

  At 6 months after testing and at 3 years after testing

Study Arms (1)

Adults Undergoing Clinical Genome Sequencing

Adults with unexplained medical conditions or clinical presentations who undergo clinical genome sequencing and longitudinal follow-up

Genetic: Genome sequencing

Interventions

Genome sequencing GENETIC

Clinical whole-genome sequencing of blood or buccal DNA, with optional family comparator analysis and return of clinical results

Adults Undergoing Clinical Genome Sequencing

Eligibility Criteria

• Age: 18 Years - 50 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

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

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

Sponsors & Collaborators

• University of Washington: lead
• GeneDx: collaborator

Study Sites (1)

University of Washington Medical Center

Seattle, Washington, 98195, United States

Location

Related Links

• Public homepage for study details and updates

MeSH Terms

Conditions

Genetic Diseases, Inborn; Critical Illness; Undiagnosed Diseases

Condition Hierarchy (Ancestors)

Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Disease Attributes; Pathologic Processes; Pathological Conditions, Signs and Symptoms

Study Officials

• Evonne McArthur, MD, PhD

  University of Washington

  PRINCIPAL INVESTIGATOR

• Danny E Miller, MD, PhD

  University of Washington

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Fellow Physician

Study Record Dates

• First Submitted: July 14, 2026
• First Posted: July 22, 2026
• Study Start: July 1, 2026
• Primary Completion (Estimated): July 1, 2029
• Study Completion (Estimated): July 1, 2032
• Last Updated: July 22, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

US (1)