Clinical Research Directory

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

Sponsor: University of Washington

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.

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