Clinical Practice Guidelines

1. Genetic Discrimination (GD) in Canada

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 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 the proposal and introduction of Bill S-201 in Canada, making 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 – Clinical practice guidelines
MacLeod R, … and the EHDN Genetic Testing and Counseling working group* includes Bombard Y. Recommendations for the predictive genetic test in Huntington’s disease. Clinical Genetics. 2012

2. Patient Engagement (PE) to Inform Policy

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 – Clinical practice guidelines
Botkin JR, Belmont JW, Berg JS, Berkman BE, Bombard Y, et al. Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents. American Journal of Human Genetics. 2015.

Dondorp W, de Wert G, Bombard Y, et al. Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening. Summary and recommendations. Eur J Hum Genet. 2015

3. Adopting Genetic Technologies to Improve Health Outcomes

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 – Clinical practice guidelines
Ormond K, Morlock D, Bombard Y, et al. ASHG Policy Statement on Human Germline Genome Editing. American Journal of Human Genetics. 2017 Aug 3; 101(2):167-176.

Bombard Y, et al. ASHG Position Statement: The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results. American Journal of Human Genetics. 2019 Apr 4; 104(4):578-95.

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