Genomic First Testing in Chronic Kidney Disease
Actively Recruiting
About This Study
This multi-center study evaluates the clinical and economic impact of genetic testing in patients with CKD who meet Ontario Health's Provincial Genetic Program criteria for suspected genetic kidney disease. Participants receive either genome-wide sequencing or standard genetic testing based on the timing of their initial diagnosis. The study assesses patient and caregiver quality of life, healthcare resource utilization via ICES data linkage, and the perceived clinical utility of testing as reported by referring physicians. Researchers also perform an economic analysis to compare genome-wide sequencing against standard testing protocols to determine the optimal timing and method for genomic assessment in CKD management.
Who Can Participate?
✓ Inclusion Criteria
- •Patients:
- •A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND
- •Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND
- •Index participant or substitute decision maker (SDM) can provide informed consent to participate.
- •Family/caregiver or SDM can provide informed consent to participate AND Related patient participant must be enrolled in the study.
- •Healthcare Provider: Provided a referral for at least one study participant.
✗ Exclusion Criteria
- •Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- •Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD. Family Members:
- •Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
- •Related patient participant is not enrolled in the study. Healthcare Provider:
- •Is not a referring healthcare provider.
- •<18 years of age unless the guardian can conduct the interview