Chronic Kidney Disease(CKD), Genetic Kidney Disease
Conditions
Keywords
Chronic Kidney Disease, Genetic Testing, Genome wide sequencing
Brief summary
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.
Detailed description
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.
Interventions
DIAGNOSTIC_TESTGenetic Testing
Early access to genetic testing.
Sponsors
London Health Sciences Centre
London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's
Dervla Connaughton
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
Patients: Inclusion Criteria: 1. A diagnosis of CKD warranting a referral to a nephrologist for further assessment AND 2. Screen positive for potential genetic kidney disease using the Ontario Health Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD AND 3. Index participant or substitute decision maker (SDM) can provide informed consent to participate.
Exclusion criteria
1. Participant or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study. 2. Fail screening as set out by the Provincial Genetics Program Eligibility Criteria for genetic assessment in CKD. Family Members: Inclusion Criteria: 1. Family/caregiver or SDM can provide informed consent to participate AND 2. Related patient participant must be enrolled in the study.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Diagnostic yield and time to diagnosis | Study duration | Our primary outcome is to address the need for high diagnostic yields and short times to diagnosis for chronic kidney disease as highlighted by our patient partner board by comparing a genome-wide sequencing approach to the standard genetic testing in patients at risk of genetic kidney disease |
Countries
Canada
Contacts
Primary ContactDervla Connaughton, MD
Backup ContactSydney Relouw, MSc
Outcome results
None listed