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

NCT07718971 · Status: ENROLLING_BY_INVITATION · Type: OBSERVATIONAL · Enrollment: 1000

Last updated 2026-07-22

No results posted yet for this study

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

Interventions

GENETIC

Genome sequencing

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

Sponsors & Collaborators

Principal Investigators

  • Evonne McArthur, MD, PhD · University of Washington

  • Danny E Miller, MD, PhD · University of Washington

Eligibility

Min Age
18 Years
Max Age
50 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2026-07-01
Primary Completion
2029-07-01
Completion
2032-07-01

Countries

  • United States

Study Locations

More Related Trials

Entities

Companies

Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT07718971 on ClinicalTrials.gov