Genomic First Testing in Chronic Kidney Disease
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Genetic Testing.
- Who it may be relevant to
- Registry conditions: Chronic Kidney Disease(CKD), Genetic Kidney Disease. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Canada
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment
Overview
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 test Genetic Testing
Early access to genetic testing.
Primary outcome measures
- Diagnostic yield and time to diagnosis [Time frame: Study duration]
Eligibility criteria
Patients:
Inclusion criteria
- 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.
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:
Inclusion criteria
- Family/caregiver or SDM can provide informed consent to participate AND
- Related patient participant must be enrolled in the study.
Exclusion criteria
- 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:
Inclusion Criteria 1. Provided a referral for at least one study participant.
Exclusion criteria
1\. Is not a referring healthcare provider.
Qualitative Sub-Study:
Inclusion criteria
- Patient participant who is enrolled in the main study.
- 18 years or older.
- The guardian for a minor
Exclusion criteria
- <18 years of age unless the guardian can conduct the interview
- Patient participant who is not enrolled in the main study.
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Cohort
Study locations
Canada · 1 center
- London Health Sciences Centre — London
Identifiers
NCT: NCT06794567 · Genomic First Testing in CKD