- treatments for genetic diseases
- treatments for inborn errors of metabolism
- delineating new genes involved in human genetic diseases
Care4Rare Canada (C4R)
Study Status: active
Institute: Princess Margaret Cancer Centre
Study Purpose: The purpose of this study is to try to identify the cause of rare genetic diseases in families that couldn’t find answers through standard of care.
When doctors know the right diagnosis:
Patients can get better care;
Families can feel more supported;
Scientists can learn more about diseases.
Background: There are about 7,000 rare genetic diseases that affect more than one million Canadians. For many families, the journey to a diagnosis can be long and uncertain, involving years of medical appointments, testing, and unanswered questions. Rare diseases often affect multiple aspects of daily life, creating challenges for children and adults, their caregivers, and the healthcare teams that support them. C4R is working to close the knowledge gap and help more families find answers.
Study Methods: The project will build tools and systems to help doctors find the genetic variants that cause rare diseases.
If a family can’t find answers through standard of care, the C4R team may look at the data from previous clinical genetic testing (ES or GS) in different ways, or use new technologies to try to find a genetic diagnosis.
Key Findings: Between 2011 and 2026, the C4R team found answers for about 1 in 3 families. The team also discovered over 200 new genes linked to rare genetic diseases. They have built systems to share data and work together across Canada. Their work has helped make genetic testing available in Canada’s healthcare system.
At this time, recruitment to C4R is paused, but the study team is continuing to work to find the causes of rare genetic disease for participants and their families.
Health Conditions:
Genetics
GSO-SFIS - Genome-wide Sequencing Ontario, Secondary Finding Impact Study
Study Status: active
Institute: Princess Margaret Cancer Centre
Study Purpose: We would like genetic testing to be helpful, affordable, and available for everyone who needs it.
This study is trying to understand how genetic testing affects patients, hospitals, and healthcare. This helps make sure the tests are used in the best way and can continue in the future.
Background: Secondary findings are genetic test results that show possible health risks but are not related to the main reason the genetic test was done. Scientists do not all agree on what to do with secondary findings from genetic tests.
Some experts think that doctors should always look for these findings and tell patients about them. Other experts think that doctors should be careful about sharing these results because they could have strong negative emotional effects and little or no effects on treatment.
Study Methods: This study is being done in Ontario to understand how secondary findings affect patients, their families, and their healthcare providers. This study will provide information that may impact funding and policy decisions in Ontario.
About 150 people will take part. Over two years, they will fill out online surveys about their health, healthcare use, and how useful these results are to them. This study will focus on medically actionable secondary findings, which are clear steps that doctors can make about secondary finding. This includes screening more often or giving treatment.
Some participants will also take part in a one-time interview to talk about how these findings affected them and their families.
Health Conditions:
Genetics
External Links:
- Assistant Professor, Department of Medicine, University of Toronto
- Clinical and Metabolic Geneticist, Fred A. Litwin Centre in Genetic Medicine, University Health Network & Mount Sinai Hospital
- Medical Genetics Advisor, Northern Regional Genetics Program