NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Whole Genome Sequencing (WGS) in Adult Neurology

NeuroSeq: A Prospective Trial to Evaluate the Diagnostic Yield of Human Whole Genome Sequencing (WGS) Compared to Standard of Care in Adults With Suspected Genetic Neurological Disorders

Prospective, multi-site, single-arm study to evaluate the diagnostic yield of cWGS in adults with neurological disorders. A single cohort naive of genetic testing will receive standard of care testing for 180 days followed by cWGS. The cohort will be followed for a total of 365 days following enrollment.

This is a prospective, randomized study to evaluate the diagnostic yield of SOC compared to cWGS in each participant. Throughout this study, each participant will receive SOC testing as determined by the site clinical team. After the physician orders SOC testing during standard clinical practice, the subject will be introduced and invited to participate in the study. On Day 180, the participant will receive a cWGS result and the participant will continue to be followed for an additional 180 days. A blood sample from each enrolled participant will be collected and shipped to the Illumina Clinical Services Laboratory ("ICSL"), which is Clinical Laboratory Improvement Amendments (CLIA)-certified and College of American Pathologists (CAP)-accredited. ICSL will conduct cWGS testing with the TruGenome Undiagnosed Disease Test ("TruGenome Test"). The TruGenome Test cWGS results will be provided to the Principal Investigator (PI) or designee who will evaluate each participant's test outcome based on aggregate medical information.

Inclusion Criteria:

1. Age ≥ 18 years at the time of consent
2. Participant is referred to a Neurogenetics Program due to suspected genetic etiology of a neurological syndrome
3. No history of prior genetic testing for the suspected condition in the participant or any family member with a similar phenotype
4. Must be able to have one - 4 to 6 ml tube of whole blood drawn for testing
5. Able to provide written consent. If participant unable to do so, a legally authorized representative (LAR) must do so on behalf of the participant

Exclusion Criteria:

1. Any known non-genetic cause(s) of disease, disorder, or phenotypic defect
2. Eligibility for enrollment of each participant is at the discretion of the site PI
3. Patient is unable or unwilling to undergo any form(s) of SOC genetic testing
4. SOC testing is NOT requested for the participant