Learn More About Dr. Yvonne Bombard and How Her Lab is Improving Genomic Services

Dr. Yvonne Bombard is a genomics health services researcher and scientist at the Li Ka Shing Knowledge Institute at St. Michael’s Hospital, where her research focuses on evaluating the implementation of new genomic technologies in clinical practice. Her lab’s goals are to improve accessibility to genomic services and improve patient care experiences. Dr. Bombard is also a contributor to the Medical Genomics program as a lecturer and a practicum partner.

The Bombard lab is a practicum partner for the MedGen program, and has taken on several students who have contributed to the Incidental Genomics study as genome analysts. When patients undergo whole-genome or whole-exome sequencing, oftentimes variants in genes that are unrelated to the reason they are receiving genetic testing are uncovered – known as incidental findings. One exome can have ~30,000 variants that need to be analyzed, and a few of these variants can impact the health of the patient. The disclosure of incidental findings is the subject of an important debate in genomic medicine, as receiving these results can often cause the patient distress. However, receiving incidental results can allow for patients to consider preventive care and inform family members. The Incidental Genomics study in the Bombard lab examines the preferences of patients and psychosocial impacts of receiving incidental results. Clarissa Chen (2020), Jordan Sam (2020), and Vanessa Rokoszak (2022) have contributed to analyzing and interpreting the exome sequencing results as practicum students. The analysts sift through the 30,000+ variants per exome and assess variants that are medically actionable, impact drug metabolism, increase the risk of common health conditions, and/or affect carrier status.

In addition, participants from the Incidental Genomics study have been enrolled in the Genomics ADvISER study at the Bombard lab, which focuses on developing an effective online decision aid that conveys the risks and benefits about leaning about different incidental findings. Through projects like the Genomics ADviSER, - and its extension, the Genetics Navigator - the Bombard lab hopes to improve accessibility, optimize delivery of results, limit wait times to ultimately improve patient outcomes. You can read more about these projects, and other projects in the Bombard lab here.

Dr. Bombard also contributes to the MedGen program by delivering a key lecture in MMG3005Y: Ethical and Legal Implications of Genomics on genetic discrimination. She is an expert lecturer as she conducted Canada’s first national study on genetic discrimination, focusing on the experiences of those who test positive for Huntington’s disease. This research was published in the British Medical Journal in 2009, and has since been translated into legislative bills in Canada and influenced international clinical practice guidelines. Notably, Dr. Bombard was an avid proponent of Bill S-201 An Act to prohibit and prevent genetic discriminations, providing a written and oral testimony to the Senate of Canada stressing its importance. The Bill was passed and became the Genetic Non-Discrimination Act (GNA), a federal law stating that it is a criminal offence for a service provider or anyone entering into a contract with a person to require or compel that person to take, or disclose the results of, a genetic test. This law has allowed Canadians to receive genetic testing for all conditions without fear of discrimination on the basis of genetic information by employers or insurance companies.

While the passing of the Genetic Non-Discrimination Act in 2017 was a major victory for genetic professional and patients in Canada, Dr. Bombard believes there’s still work to be done in the fight against genetic discrimination. She notes that many healthcare providers and patients are not aware of the protections provided by the GNA, and are still concerned about other forms of discrimination (for example, how a patient with a genetic disorder might be perceived by people around them). In addition, Dr. Bombard is committed to improving access to genetic services by those currently underserved by tackling key barriers– including financial limitations, fear of discrimination (real or perceived), lack of trust in the healthcare system, and limited access to family history. Notably, these barriers are most often faced by patients from marginalized groups. Dr. Bombard also focuses on educating healthcare providers about the Genetic Non-Discrimination Act and the benefits of genetic testing.

We are thankful for Dr. Bombard’s contributions to the MedGen program and to healthcare services, and we hope her research continues to ameliorate genetic services in Canada and internationally.