Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada
What is the Goal?
Genetic causes are responsible for about 10–20% of chronic kidney disease. Genetic testing can help confirm whether a person’s kidney disease has a genetic cause, but it has not yet been widely used in routine care. This is largely because existing evidence comes from small studies, selective group of patients, or from research settings. In this study, the authors followed a group of patients with chronic kidney disease over time and used clear clinical referral criteria and a standardized testing process to evaluate how well genetic testing works in real world care and how useful it is for patient management.
Participant Information
We analyzed a prospective cohort of 300 participants (256 families) referred to a kidney genetics clinic, between March 2020 and March 2024. esting was performed for the detection of variants in genes known to cause CKD.
Key Findings
Genetic diagnoses were useful in several ways for patient care, although the benefits differed depending on the type of kidney disease.
Why It Matters
Using referral guidelines and a standardized approach to genetic testing, this study was able to identify a genetic cause of kidney disease in one out of every three people tested. These findings highlight that genetic testing provides a useful tool in genetic assessment in kidney care. Because genetic results can directly affect treatment decisions, it is important to shorten the long wait between being diagnosed with kidney disease and receiving genetic testing.
Where can I Learn More?
- Authors
- Dervla M. Connaughton, Western University.