University of Washington
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.
This is a prospective observational cohort study evaluating the use of clinical whole genome sequencing in adults with unexplained medical conditions, atypical disease courses, or clinical presentations for which a genetic contribution is suspected. Participants will be identified at the University of Washington Medicine sites (UW Montlake and Harborview Medical Center). The study is intended to characterize how genome sequencing can be incorporated into adult clinical care. Participation is voluntary and does not replace standard diagnostic evaluation or treatment. Potential participants wil…
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 ha…
Clinical whole-genome sequencing of blood or buccal DNA, with optional family comparator analysis and return of clinical results
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