Research Awards Recipients

Co-Applicant(s):  Cadence Baker, Ilias Goranitis, Lauren Cipriano, Maria Mathews, Matthew Weir, Monica Arnaldi, Osvaldo Espin Garcia, Raymond Kim, Robert Hegele, Robin Hayeems, Susan Q. McKenzie, Sydney Relouw, Tugce Balci

Lay Abstract

Background: Genetic kidney disease is under-estimated and under-recognized, but we now know that 20% of adults with kidney disease have a genetic cause. The benefit of genetic testing is that we can understand the exact cause of disease and provide personalized and effective treatments. In fact, studies now show that once genetic kidney disease is diagnosed, following genetic testing, >90% of patients have a direct change in their management plans. Genetic tests are easy to do, requiring only a blood or spit sample. Despite this, more than one-third of patients never find out the true cause of their kidney disease. Work with patient partners: We have spent 4 years working with patients and, together, we have found that access to genetic testing, in a timelier manner, is a key priority for patients living with kidney disease. Current standard of care genetic testing usually entails performing genetic testing late, if ever, in the diagnostic pathway, typically many years after the initial diagnosis of kidney disease is made. Focus group work with our patient partner board has found these long delays in diagnosis inflict significant emotional toll on patients and families who “never find out the true cause of their disease”. In Canada, the first set of guidelines describing which patients should have genetic testing are now available, but we still do NOT know what test is best. Genomic-First testing is increasingly available due to rapidly decreasing costs. This type of testing, which uses modern sequencing technologies, provides comprehensive genetic testing and has the capacity to more efficiently diagnose more patients with genetic kidney disease at an earlier stage in their diagnostic pathway (i.e., ideally <1 year after initial diagnosis of kidney disease). Indeed, our experience to date assessing outcomes in 300 patients attending a dedicated kidney genetic clinic in Canada, shows that at least 10% MORE people find out they have genetic kidney disease when more advanced genetic testing is performed. Despite all these advances our work with our patient partners shows that in Canada, even in patients with confirmed genetic kidney disease, the wait times for genetic testing are many YEARS (average > 10 years based on current data). We think this delay is too long and so do our patients. Methods: We propose a 3-year study, where we use these guidelines to identify people at risk for genetic kidney disease. Following assessment in a dedicated Kidney Genetic Clinic, we will offer either early advanced genetic testing (i.e., Genomics- First) if within 1 year of initial diagnosis of CKD by a nephrologist or standard genetic testing, if > 1 year after initial diagnosis of CKD by a nephrologist. This work will be coupled with an extensive knowledge translation program to enhance knowledge about genetic kidney disease and the indications for genetic testing to key stakeholders, including patients and families, clinicians caring for patients with kidney disease and policy makers. Our goals are to answer the following 3 aims: Aim 1. Compare the health outcomes in patients who have Genomics-First testing, to see if we can diagnose more people with genetic kidney disease and to see if this changes their treatment plan and improves their care. Aim 2. Find out if Genomics-First testing versus standard genetic testing is most cost effective, by getting to the diagnosis sooner and reducing the need for other more invasive tests, such as a kidney biopsy. Aim 3. Understand how patients and families feel about these different genetic tests through one-on-one interviews to better understand their thoughts and experiences. Results: We will find out exactly what types of genetic tests are needed and when they should be considered in patients with kidney disease. We will find out how different genetic tests affect patients and their families to see if there are certain aspects of the patient journey, such as timelier access to testing, counselling support or peer support that could improve patient care and their overall quality of life. By working directly with the Provincial Genetics Program and community partner such as the Transplant Ambassador Program and Can-SOLVE CKD, these results will immediately be integrated into health policy to directly improve access and care for patients with genetic kidney disease.