Genomic First Testing in Chronic Kidney Disease

What this study is about

This multi-center study examines the role of genetic testing in patients with chronic kidney disease (CKD) who are identified as being at risk for genetic kidney disease, based on Ontario Health's Provincial Genetic Program (OH-PGP) guidelines. Participants will be assigned to either genome-wide sequencing or standard genetic testing, depending on when they were initially diagnosed with kidney disease. To evaluate the impact of genetic testing, patients and caregivers will complete quality-of-life questionnaires before and after testing. Participants may also choose to take part in a one-on-one interview at the end of the study to provide additional insights. They will have the option to link their data to the Institute for Clinical Evaluative Sciences (ICES), allowing researchers to explore health outcomes such as the costs of genetic testing and healthcare resource use. Family members of participants will be invited to provide DNA samples to help identify genetic changes in the affected individual. Referring physicians will complete a survey to assess the clinical value of genetic testing for each patient they refer. We will perform an economic analysis comparing the genome wide sequencing to the standard genetic testing group. The study's findings will offer important guidance on how genetic testing influences patient care, clinical outcomes, and the timing of genomic assessments in managing CKD.

Who can join (things the study team will check)

✅ You may be able to join if…

• 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.

🚫 You may not be able to join if…

• 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:

✅ You may be able to join if…

• Family/caregiver or SDM can provide informed consent to participate AND
• Related patient participant must be enrolled in the study.

🚫 You may not be able to join if…

• 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:

🚫 You may not be able to join if…

• Is not a referring healthcare provider. Qualitative Sub-Study:

✅ You may be able to join if…

• Patient participant who is enrolled in the main study.
• 18 years or older.
• The guardian for a minor

🚫 You may not be able to join if…

• <18 years of age unless the guardian can conduct the interview
• Patient participant who is not enrolled in the main study.

Where this trial is running

• London Health Sciences Centre, London, Ontario, Canada

Who to contact

Dervla Connaughton, MD · 519-685-8500 · dervla.connaughton@lhsc.on.ca

It's completely normal to call and ask questions before deciding anything. Mention the study ID: NCT06794567.