Using Genomic Technologies Wisely

As a PhD student, Dr. Bombard worked with UBC researcher Dr. Michael Hayden, who developed the world's first predictive test for Huntington's disease. In 2008, Dr. Hayden was named Canada's Health Researcher of the Year by CIHR.

CIHR Foundation Grant Recipient

Dr. Yvonne Bombard
Li Ka Shing Knowledge Institute
St. Michael's Hospital, Toronto

Dr. Bombard's Research

Although she is a relatively new investigator, Dr. Yvonne Bombard has already had a big impact in her field. She conducted one of Canada's first studies on genetic discrimination, focusing on the barriers faced by people who undergo genetic testing for Huntington's disease (HD), a devastating condition that typically develops in adulthood, affecting muscle coordination and leading to mental decline and behavioral symptoms. These individuals may face discrimination from insurance companies or employers. She also led an initiative in Ontario to get patients involved in policy decisions about incorporating new technologies, such as genome sequencing, into health care. She has also evaluated whether genetic testing of tumours improves decision-making for patients undergoing treatment for breast cancer.

Her research on genetic discrimination has provided crucial evidence for proposed legislation seeking to make it illegal for companies to discriminate against individuals on the basis of results from a genetic test.  Her work has helped spur the establishment of an advocacy group, known as the Canadian Coalition for Genetic Fairness, and revisions to the International Guidelines on Genetic Testing for Huntington's disease.

Supporting Advances in Genomic Medicine

Our ability to draw information from the human genome – a person's complete set of genetic materials – is rapidly increasing. Advances in genetic screening and genetic testing could have huge benefits for people, but it's important to consider how these new technologies will impact both individual patients and the health care system as a whole. In the coming years, policy makers, clinicians and patients will have to grapple with complex questions about when it is useful and appropriate to use genomic technologies in medicine.

Thanks to her Foundation Grant, Dr. Bombard will be able to help address some of these questions. She'll be looking at the impacts of incorporating genomic technologies into health care, and how we can best bring these new technologies from the lab into the clinic, particularly in the area of cancer treatment. She and her team will develop and evaluate a tool for patients to help them make informed decisions about how much information they would like receive about their genomic analysis. Dr. Bombard will also look at breast cancer patients undergoing genome sequencing to understand how useful the information is for patients, and what psychological impact it might have. Finally, she'll look at potential barriers to using genome sequencing in the clinic – from the patient's perspective, the physician's perspective, and a cost-effectiveness perspective. Her findings will ultimately help ensure these technologies are put to use in ways that are both fair and beneficial to patients.

"It is a privilege to have my work recognized by CIHR and Canada's health research community in this way. I am excited by the opportunity to continue to work with a stellar group of colleagues, mentors and collaborators on improving our evaluation and delivery of new genomic technologies. Canada is a powerhouse of genomics and health services research, which we will be able to harness through this Foundation grant. This research will provide high quality evidence on the values, health benefits and economic costs of adopting genome sequencing technologies in clinical practice." – Dr. Yvonne Bombard

About Dr. Bombard

Dr. Bombard completed her PhD at the University of British Columbia. She also completed Fellowships at Yale University, Memorial Sloan-Kettering Cancer Center, and the University of Toronto. She received CIHR support for her PhD and post-doctoral fellowships, and became a CIHR New Investigator in 2014. Her distinctions include the 2014 Maurice McGregor Award for Demonstrated Excellence and Leadership Potential from the Canadian Agency for Drugs and Technologies in Health, the 2011 Rising Star Award from CIHR's Institute of Health Services and Policy Research, the 2010 Lap-Chee Tsui Award from CIHR's Institute of Genetics and the 2009 Brain Star Award from CIHR's Institute of Neurosciences, Mental Health and Addiction.

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