A proposed definition of “genetic discrimination” aims to unify discussions and policies in healthcare and research, and address discrimination in genetic research.
We had a chance to sit down with Yann Joly, James McGill Professor in the department of Human Genetics and a member of D2R’s Partner and Community Engagement Committee [1] to discuss his report titled “A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate” recently published in Nature Genetics. He shared insights into the proposed definition of genetic discrimination, its impact on healthcare, and recommendations for its consideration in research, particularly within D2R.
What are some key insights presented in your article on genetic discrimination?
Genetic discrimination (GD) is a major issue associated with genetic research and clinical implementation. It is indeed the most likely issue to be brought up by patients/research participants.
It is very difficult to measure the occurrence of genetic discrimination on a large scale. While researchers having have empirically tried to study the topic, they have used different definitions of genetic discrimination making it impossible to compare studies or aggregate results. Furthermore, policymakers across jurisdictions have also used different definitions of GD some more inclusive than others. These discrepancies have resulted in different degrees of protection from GD for individuals participating in international research.
With this in challenge in mind, stakeholders and experts from the Genetic Discrimination Observatory (GDO) and the Global Alliance for Genomics and Health (GA4GH) assembled under my leadership to study the various facets of GD to propose a consensus definition that could be used as a basis for further academic work and prevention initiatives on the subject.
The GD definition proposed is: “Genetic discrimination involves an individual or a group being negatively treated, unfairly profiled, or harmed, relative to the rest of the population, on the basis of actual or presumed genetic characteristics.”
What motivated your interest in exploring the definitions of genetic discrimination?
Genetics and other ‘OMICS’ sciences have the potential of transforming healthcare for the better in the future. Already for a small, but growing, number of diseases and patients through prevention or personalized care, they offer a new chance at a healthy life. I find the prospect of some people being prevented from benefiting from these scientific developments because of concerns over GD morally unacceptable. Given this, for the last 25 years I have consistently worked on projects and initiatives aiming at researching, educating on and preventing GD.
Could you share some examples that illustrate the multifaceted impact of genetic discrimination?
In the Canadian context, it has been shown that in the context of hereditary breast cancer and in that of Huntington’s disease people having obtained a positive genetic test for the mutation had been discriminated by life insurers (for ex. barred from obtaining a life insurance policy). In a completely different context, a person reported to the GDO having been discriminated by their new family physician who asked them to sign an agreement to follow the dosage prescribed by a Pharmacogenetic (PGx) [2] test as a condition to be taken on as a patient.
How does genetic discrimination affect healthcare access and therapeutic development for equity deserving groups?
GD is closely linked to stigmatization and eugenics practices responsible in part for these groups mistrust of genetics. It is also intersectional as people discriminated based on their genetic profile are more likely to already be discriminated and stigmatized based on other proscribed grounds (ex. race, health status, etc.). Therefore, it is a precondition to the participation of these groups in genetic research that any concerns with GD be addressed to the satisfaction of all constituents.
Why is it important to consider genetic discrimination in research conducted within D2R?
The Federal government of Canada has adopted a law to protect Canadians from genetic discrimination called the Genetic Non-Discrimination Act. However recent work from our group and from Yvonne Bombard from the University of Toronto demonstrated that the extent of protection from GD procured by this law was limited. It is also likely that as science and society progresses a growing number of GD cases will fall in gaps left by the law. Therefore, more work is needed to develop additional policies that will be more adaptive to such developments. It is extremely important, in the context of a large-scale genomic initiatives like D2R, that we act in a proactive manner to ensure that none of our research participants or members of their community are discriminated against because of their participation in D2R.
How can your proposed definition of genetic discrimination guide scientific and policy discussions, especially for D2R researchers?
It will ensure that people/research all speak and carry out research about the same problem. For example, defining genetic discrimination as “an individual being negatively treated by life insurers relative to the rest of the population, on the basis of predictive genetic test results” speaks to a very narrow context of GD cases (only predictive genetic results, only for life insurance). Through D2R, we will be able to verify that there is no occurrence of genetic discrimination using a more consistent and streamlined methodology. The proposed definition will also be a useful tool to facilitate engagement and science communication activities on the ethical, social and policy aspects of D2R research.
To learn more about Yann Joly’s recent work on genetic discrimination, read “A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate” published on June 24, 2024 in Nature Genetics.