The fear of an employer or insurer discriminating against an individual based on a genetic test remains a major barrier to genetic testing but there is limited policy protections and empirical evidence of GD in Canada. Dr. Bombard conducted Canada’s first national study on GD. She found that GD was prevalent among the Huntington disease (HD) population in Canada, as 40% reported incidents of GD, especially when buying insurance. Importantly, her study identified that GD is associated with high psychological distress. Her research has provided crucial evidence for proposed legislation seeking to make it illegal for companies to discriminate against individuals based on a genetic test. Her work has also informed revisions to the International Guidelines on Genetic Testing for HD. She received a CIHR-IHSPR Rising Star Award +2 CIHR publication awards for these achievements.
Outcomes – Policy & Knowledge Translation (selected)
2014 & 2016 Expert Witness, Policy Development – Testimony for the Standing Senate Committee on Human Rights on Bill S-201, An Act to Prohibit and Prevent Genetic Discrimination (Federal)
2013 Scientific expert, Policy Development: Bill 127. An Act to amend the Human Rights Code with respect to genetic characteristics (Ontario).
2012 Expert Advisor, Globe & Mail: National Genome Research Advisory Committee.
2011 Scientific Expert, Policy Development: Bill 199. An Act to amend the Human Rights Code with respect to genetic characteristics. (ONT)
2008-present Steering Committee Member, Canadian Coalition for Genetic Fairness.
Outcomes – Publications & Impact (selected)
Bombard Y, et al. Perceptions of genetic discrimination among persons at risk for Huntington disease: A cross-sectional survey. British Medical Journal. 2009.
Bombard Y, et al. Engagement with genetic discrimination: Concerns and experiences in the
context of Huntington disease, Eur J Hum Genet. 2008.
Dr. Bombard leads provincial and national initiatives to get patients involved in policy decisions about incorporating new technologies into health care, such as genome sequencing and childhood genetic screening. This work has been recognized by a CADTH Maurice McGregor Rising Star Award for her research excellence & leadership potential. Her work influenced international guidelines on childhood & prenatal testing, as well as policy decisions in Ontario’s Health Technology Advisory Committee’s recommendation to fund INR testing.
Outcomes – Policy reports
Bombard Y, et al. Engaging patients to improve quality care: A systematic review. Can Health Services Research Foundation. 2014
Abelson J, Bombard Y, et al. Consulting with Ontario Citizens about Health Technologies. ON Ministry of Health & Long-Term Care – ON Health Technology Advisory Committee. 2010
Bombard Y. Public Engagement Pilot Study on Point-of-care INR Monitoring Devices, Ontario Ministry of Health and Long-Term Care – Ontario Health Technology Advisory Committee. 2009
Outcomes – Publications & Impact (selected)
Bombard Y, et al. Public views on newborn screening using genome sequencing. Eur J Hum Genet. 2014.
Bombard Y, et al. Citizens’ perspectives on personalized medicine: A qualitative public deliberation study. Eur J Hum Genet. 2013
Bombard Y, et al. Citizens’ values regarding research with stored samples from newborn screening in Canada. Pediatrics. 2012.
Bombard Y, et al. Healthcare providers’ views on pursuing reproductive benefit through newborn screening: The case of sickle cell disorders. Eur J Hum Genet 2012.
Bombard Y, et al. The expansion of newborn screening: is reproductive benefit an appropriate pursuit? Nature Reviews Genetics. 2010.
Dr. Bombard’s current research evaluates the health outcomes of adopting new genetic tests in clinical practice. An example is gene expression tests being used to help guide treatment decisions for early breast cancer. She found that while oncologists and patients value these tests, doctors have concerns over their high cost and potential inappropriate use, and patients misunderstood them. Her research has informed practice delivery and use of these tests. Her work has also influenced guidelines on the use of new genomic technologies, such as gene editing (CRISPR), as part of her role on international policy committees.
Outcomes – Publications & Impact (selected)
Bombard Y, et al. The value of personalizing medicine: Medical oncologists’ views on gene expression profiling in breast cancer treatment. The Oncologist 2015.
Bombard Y, et al. Access to personalized medicine: Factors influencing the use and value of gene expression profiling in breast cancer treatment. Current Oncology. 2014
Bombard Y, et al. Patients’ perceptions of gene expression profiling in breast cancer treatment decisions. Current Oncology. 2014.
