Clinic Services
Genetic test results can be hard to understand, however our specialists can help explain what your genetic test results might mean to you and your family. Our clinic offers a range of genetic testing services including:
Diagnostic Testing
Diagnostic testing is used to precisely identify the specific kidney disease that is affecting you. The results of a diagnostic test may help you and your healthcare providers make the best choices about how to treat or manage your health.
Genetic Counseling
A genetic counselor can help patients and families think about the benefits and limitations of a particular genetic test. Genetic counselors help individuals and families understand the scientific, emotional, and ethical factors surrounding the decision to have genetic testing and how to deal with the results of those tests.
At our kidney genetics clinic we assess patients and their families for the possibility of genetic kidney disease in a single visit, and if appropriate, we arrange clinical diagnostic testing for all causes of genetic kidney disease.
Genetic testing is a medical test that examines an individual’s DNA (or genetic make-up) using blood or spit samples to identify genetics changes (also known as mutations) associated with certain diseases or conditions. Increasingly, genetic testing has become an important tool for some people with kidney disease.
The purpose of genetics testing in individuals with kidney disease is to identify whether an individual has an increased risk of developing a particular condition based on their genetic makeup. Testing can help to identify and manage genetic risk factors, and to develop a personalized treatment plan to diagnose and treat patients.
What We Are Looking For
We are looking for alternations in your DNA, or what we call defects or mutations in genes known to cause kidney disease. We see both adult and children with kidney disease and offer genetic counselling for all our patients and their families.
Previously it was felt that kidney disease, particularly in adults, was not really related to genetics, but we now know this is not necessarily the case.
A seminal paper published a few years ago (Groopman et al. N Engl J Med 2019 Jan 10;380(2):142-151.) in the New England Journal of Medicine revealed that almost 10% of all patients with kidney disease have a genetic cause – that is an underlying defect in your DNA is the cause of kidney disease. This may be an under-estimation as more recent studies show that 20% of patients with kidney disease may have a genetic cause (Dahl et al. J Am Soc Nephrol 2023 Dec 1;43(12):2039-2050).
“My hope is that by understanding the molecular and genetics basis of disease, we can start to identify patients at risk of kidney disease and ultimately kidney failure. In 20 years, I envision by understanding the genetic basis of kidney disease, we can develop targeted treatment for patients with kidney disease, that target the very specific change that is observed in their DNA, the so called precision or personalized medicine approach.”
Dr. Dervla Connaughton
Our Collaborators
Our team provides comprehensive genetic and genomic evaluation for patients with suspected rare and inherited kidney disease and collaborates with researchers across Canada and around the world to stay updated on new discoveries and treatments. Some of our collaborators include:
