Neurologic Abnormalities, Neurologic Deficits, Neurologic Disorder
Conditions
Brief summary
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.
Detailed description
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.
Interventions
OTHERclinical Whole Genome Sequencing
Participants will receive cWGS as well as standard of care testing. The clinician/site PI will be blinded to the cWGS results until Day 180.
Sponsors
Illumina, Inc.
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic Yield between cWGS and SOC testing | Day 0 - Day 365 | The number of participants who have a diagnosis in the SOC arm vs the cWGS arm as measured by the test outcome |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Resource Utilization between cWGS and SOC testing | Day 0 - Day 365 | The number of participants who have utilized resources to include specialist referrals, tests/procedures ordered and procedures avoided in the SOC arm vs the cWGS arm as measured by data collection case report forms |
| Quality of Life between cWGS and SOC testing | Day 0 - Day 365 | Comparison between Quality-of-Life scores as measured by the 12-Item Short Form Survey (SF12) from baseline compared to end of study |
| Diagnostic Accuracy between cWGS and SOC testing when comparing the medical monitor test outcome and the site PI test outcome | Day 0 - Day 180 | Diagnostic accuracy- percent positive agreement between test outcome classified by the medical monitor and the site PI or designee |
| Diagnostic Yield within Cohort when evaluating specific Neurologic disorders | Day 0 - Day 365 | Difference in diagnostic yield between cohorts of neurological disorders |
| Change of Management between cWGS and SOC testing as measured by a management questionnaire collected on a case report form | Day 0 - Day 365 | The number of participants who have a change in management after receiving SOC results vs cWGS results as measured by a management questionnaire at baseline, Day 180 and Day 365 |
Other
| Measure | Time frame | Description |
|---|---|---|
| Participant Survey | Day 365 | Participant satisfaction measured by an end-of-study questionnaire determining the overall satisfaction with the use of cWGS testing Participant satisfaction measured by an end-of-study questionnaire determining the participant's overall satisfaction with the use of cWGS testing |
| Clinical Survey by the clinician who ordered SOC testing | Day 365 | Clinician and genetic counselor satisfaction measured by an end-of-study questionnaire determining the overall satisfaction with the use of cWGS testing |
| Time to Diagnosis between cWGS and SOC testing | Day 0 - Day 365 | Average time (in days) to diagnosis between SOC and cWGS testing (duration between when sample is approved and when result(s) is/are delivered) |
Countries
United States
Outcome results
None listed