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Personalized Medicine

Personalized Medicine Is Key to Diagnosing Rare Disease

Scientist studying DNA results
Scientist studying DNA results
Kathryn Deuchars PhD

Kathryn Deuchars, PhD

Director, Ontario Personalized Medicine Network & Senior Manager, Sector Innovation and Programs, Ontario Genomics

When it comes to health care, we know one size does not always fit all. For example, take cystic fibrosis (CF), the most prevalent fatal genetic disease in Canada. Lung infections are the most common cause of death for those with CF and half who die are under the age of 32. Today, CF patients are living longer and better with new medicines that target underlying genetic defects. But patients with the same defect may not respond the same way to the same drug. “With precision medicine, we have the power to select the right drug for the right patient at the right time,” says Bettina Hamelin, President and CEO of Ontario Genomics. “By understanding a person’s DNA, we can customize treatment in ways we couldn’t a decade ago.”

Ontario Genomics is supporting researchers in developing a new test to predict which drug would be best for each CF patient. Similar tests are being developed in Ontario to find the right treatment for patients with depression and inflammatory bowel disease, and for children with cancer or rheumatoid arthritis. 

Even more sophisticated tests are needed for patients with rare inherited diseases — so rare that the genetic causes of these diseases are often not known. These patients may go through years of testing with no diagnosis. Combined, the over 7,000 rare genetic diseases in Canada affect one million Canadians and their families. Most affect children, and most cause disabilities and early death. Ontario Genomics is helping a pan-Canadian, Ontario-led research team, working with provincial Ministries of Health, to determine how to add a test that can read a patient’s entire DNA to reveal the genetic cause of a child’s rare disease. A proper diagnosis is the first step to the right care.

Information in our genes is transforming health care. Soon new tools, like cell and gene therapies, will offer powerful new treatments and even cures. Ontario Genomics, alongside Ontario’s globally-recognized leaders in precision medicine, will continue to advance these breakthrough technologies so that Ontarians can access the very best of care. 

Ontario Genomics is a not-for-profit organization that leads the application of genomics-based solutions across many sectors, including health care, to drive economic growth and improved quality of life for people in Ontario.

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