New GA4GH product establishes guidance to address genetic discrimination

3 Mar 2026

The GA4GH Regulatory & Ethics Work Stream has published a newly approved product: The Position Statement on Genetic Discrimination (GD). This Position statement outlines recommendations to monitor GD cases, establish legal and regulatory infrastructure, and equip stakeholders with information about GD and available protections.

By Jaclyn Estrin, GA4GH Senior Science Writer

The Global Alliance for Genomics and Health (GA4GH) is pleased to announce the recent approval of a new product from the Regulatory & Ethics Work Stream (REWS): The Position Statement on Genetic Discrimination.

Breakthroughs in genomic science foster earlier diagnoses, more precise treatments, and deeper biological insight. Yet, without proper safeguards, there is a risk that genetic data can be used to exclude, stigmatise, or harm people. The REWS Genetic Discrimination working group has developed an unequivocal position statement, standing firmly against genetic discrimination (GD), which they define as “involving 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.”*

GD can manifest across the international healthcare ecosystem, but the GD working group found heightened prevalence in areas of private insurance, employment access, and family matters. GA4GH Policy Analyst Ariel Xue (McGill University) said, “For instance, GD occurs when insurers misuse genetic information for underwriting or pricing, when employers reject job applicants based on their genetic characteristics, or when marriages or lineages are stigmatised.” 

There is currently widespread variance in the way GD incidents are recorded, resulting in a lack of clarity on the overall frequency and scale of the issue. Furthermore, each country has different regulations addressing GD, many of which are not equipped to fully address the evolving nature of the issue.

The GA4GH GD product team, led by Yann Joly (James McGill Professor in the Department of Human Genetics and Director of the Centre of Genomics and Policy at McGill University), with support from Xue, was formed within REWS to determine policy-focused solutions. The GD Position Statement, now an officially approved GA4GH product, outlines key recommendations to address GD, building off existing REWS activities, including the Genetic Discrimination Toolkit, a proposed consensus definition of GD, and an international Delphi study that collected insights into elements critical for non-discrimination policies. Together, these tools serve as guidance resources to address GD and standardise how GD incidents are recorded.

Genetic discrimination has a resounding impact on genomic research. For instance, people may opt out of participating in health research if they are concerned about genetic discrimination and the impact on their future ability to access equitable care. By opting out of these studies, however, they may miss out on clinically relevant information that could support their healthcare.

According to the product team lead Joly, “Four decades after it was first identified, genetic discrimination remains a concern for many patients considering genetic research. More must be done globally to address it.”

As outlined in the United Nation’s Universal Declaration of Human Rights, and reaffirmed within the GA4GH Framework for responsible sharing of genomic and health-related data, all humans have the fundamental right to benefit from science and scientific advancements. Joly explained, “If the concerns over the possibility of GD prevent people from participating in genomics and health research, the realisation of this human right is unduly impeded.”

The Position Statement is designed to be broadly applicable and adaptable across jurisdictions with users and stakeholders in mind from across the healthcare ecosystem, including policy makers, regulatory and ethics experts, those involved in patient care, patients, and members of the public.

Xue said, “Developing this position statement was a highly collaborative process. As GD is a multifaceted concern, we incorporated diverse insights from legal and policy experts, medical doctors, bioethicists, researchers, and genetic counsellors to ensure the policy tool reflects real-world complexities on addressing GD.”

The GD Position Statement includes eight key recommendations.

• Create standards for information sharing about the risk of GD
• Develop guidance for addressing GD in an equitable and culturally sensitive manner
• Support the use of international legal standards in GD regulation
• Integrate scientific terms into legislation through reflexive regulations
• Monitor for gaps in protection against GD
• Establish informational resources around GD
• Build and maintain a global GD reporting system
• Address the intersection of GD with other forms of discrimination  

In summary, this Position statement outlines a standardised path forward to monitor GD cases, establish legal and regulatory infrastructure to address and prevent GD, and equip all stakeholders involved in the healthcare ecosystem with information about GD and available protections.

Addressing the concerns of genetic discrimination is crucial to building a more inclusive genomic and health landscape where people of all backgrounds and genetic characteristics can feel comfortable participating in research. Only in doing so, can all communities benefit from the full promise of genomic medicine and personalised patient care.

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* Kaiser, B., Uberoi, D., Raven-Adams, M. C., Cheung, K., Bruns, A., Chandrasekharan, S., Otlowski, M., Prince, A. E. R., Tiller, J., Ahmed, A., Bombard, Y., Dupras, C., Moreno, P. G., Ryan, R., Valderrama-Aguirre, A., & Joly, Y. (2024). A proposal for an inclusive working definition of genetic discrimination to promote a more coherent debate. Nature Genetics, 56(7), 1339–1345.