Genomic First Testing in Chronic Kidney Disease

Improving Diagnosis for Genetic Kidney Disease Through Early Genomic Assessment

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.

Study Overview

• Status: Not yet recruiting
• Conditions: Chronic Kidney Disease(CKD); Genetic Kidney Disease
• Intervention / Treatment: Diagnostic test: Genetic Testing

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.

• Study Type: Observational
• Enrollment (Estimated): 2400

Contacts and Locations

• Study Contact: Name: Dervla Connaughton, MD; Phone Number: 519-685-8500; Email: dervla.connaughton@lhsc.on.ca
• Study Contact Backup: Name: Sydney Relouw, MSc; Phone Number: 34769 519-685-8500; Email: sydney.relouw@lhsc.on.ca

Study Locations

• Canada
  • Ontario
    • London, Ontario, Canada, N6A 5A5
      • London Health Sciences Centre
      • Contact: Dervla Connaughton, MD; Phone Number: 519-685-8500; Email: dervla.connaughton@lhsc.on.ca
      • Contact: Sydney Relouw; Phone Number: 34769 519-685-8500; Email: sydney.relouw@lhsc.on.ca
      • Contact: Dervla Connaughton, MD

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: Yes

• Sampling Method: Non-Probability Sample

Study Population

Patients, Family Members, Healthcare providers

Description

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.

Exclusion Criteria:

1. Family/caregiver or SDM is unable to provide consent, for any reason, to be an unsuitable candidate for the study.
2. 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:

1. Patient participant who is enrolled in the main study.
2. 18 years or older.
3. The guardian for a minor

Exclusion Criteria:

1. <18 years of age unless the guardian can conduct the interview
2. Patient participant who is not enrolled in the main study.

Study Plan

How is the study designed?

Number of groups / cohorts

2

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
< 1 year since diagnosis of kidney disease	Diagnostic test: Genetic Testing; Early access to genetic testing.
> 1 year since diagnosis of kidney disease	Diagnostic test: Genetic Testing; Early access to genetic testing.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic yield and time to diagnosis	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	Study duration

Collaborators and Investigators

• Sponsor: Dervla Connaughton
• Collaborators: London Health Sciences Centre; London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's

Study record dates

Study Major Dates

• Study Start (Estimated): March 1, 2025
• Primary Completion (Estimated): December 31, 2027
• Study Completion (Estimated): December 31, 2028

Study Registration Dates

• First Submitted: January 8, 2025
• First Submitted That Met QC Criteria: January 21, 2025
• First Posted (Actual): March 25, 2025

Study Record Updates

• Last Update Posted (Actual): March 25, 2025
• Last Update Submitted That Met QC Criteria: January 21, 2025
• Last Verified: January 1, 2025

More Information

Terms related to this study

• Keywords: Chronic Kidney Disease; Genetic Testing; Genome wide sequencing
• Additional Relevant MeSH Terms: Urogenital Diseases; Pathologic Processes; Male Urogenital Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Chronic Disease; Disease Attributes; Renal Insufficiency; Kidney Diseases; Renal Insufficiency, Chronic
• Other Study ID Numbers: Genomic First Testing in CKD

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No
• product manufactured in and exported from the U.S.: No