Underrepresentation in Genetic Databases, Intersectionality and the Right to Benefit From Scientific Progress

[Dr Carlotta Manz defended her doctoral thesis in international public law in 2024 at the University of Lausanne and is now a postdoctoral researcher at the Vrije Universiteit Brussel]

In 2025, genetic testing continues to raise pressing legal concerns. For instance, when 23andMe – the company that brought us at-home genetic tests – filed for bankruptcy, attention largely focused on privacy concerns (such as the ones highlighted by Kwon). Yet, there are other human rights issues that remain comparatively less examined: one of these is the structural underrepresentation of certain ancestry groups in genetic databases. This lack of diversity is not only a scientific shortcoming, but it also reflects and worsen existing structural inequalities. 

The first part of the post explores how the lack of diversity in genetic databases exacerbates existing discrimination and why inequalities in this context should be understood through intersectional lenses. The second section examines the place of intersectionality in international human rights law and highlights its limited but evolving presence. Finally, the third section assesses to what extent the right to benefit from scientific progress offers a legal framework capable of addressing overlapping forms of exclusion such as those highlighted by underrepresentation in genetic databases. 

Underrepresentation in Genetic Databases

Genetic databases are predominantly based on individuals of European ancestry, failing to reflect global genetic diversity. In 2021, 86% of participants in genome-wide association studies were individuals of European ancestry. While representation has improved over time, certain ancestries – notably, African ancestry – are still significantly underrepresented. 

Underrepresentation in genetic databases has deep and systemic roots. Past and ongoing systemic oppression and colonial dynamics have shaped a world in which individuals of non-European ancestry often also belong to communities that face ongoing marginalization and exclusion. Early large-scale genomic studies were disproportionately focused on individuals of European ancestry and structural discrimination and systemic racism have long contributed to the continued exclusion of marginalized populations from research. Barriers to healthcare,  mistrust in participating in research because of historical transgressions, and explicit or implicit and inadvertent bias perpetuated by researchers and doctors (see notably disparities in genetic testing for breast and ovarian cancer) have all played a role in this ongoing issue. 

The consequences of these biases are profound. Genetic tests designed to predict disease risk or tailor treatments tend to be more accurate for individuals of European ancestry and could potentially give inexact or even harmful results to others. At the same time, since the underrepresented individuals often overlap with groups already facing exclusion and marginalization, their absence in genetic databases worsens existing disparities. It limits participation in research, reduces the likelihood of accurate diagnosis or effective treatment, and perpetuates unequal access to the benefit of genomic medicine. 

This exclusion is based on different axes of discrimination. Underrepresentation in genetic databases is formally based on ancestry, which is defined as the “information about the ancestors or populations from whom one has inherited genetic material”. The term ‘ancestry’ should never be confused with ‘race’ or ‘ethnicity’. The first term describes a social construct, and the scientific community has (or at least should have) moved beyond the use of race as a population descriptor in genetics. The second is linked to “cultural aspects of the individual’s life”. However, it cannot be ignored that, due to the systemic oppressions discussed above, individuals of underrepresented ancestries often also belong to marginalized racial and ethnic groups. As a result, what appears as exclusion based purely on ancestry actually threatens to reflect and reinforce broader patterns of social and structural marginalization. At the same time, disparities extend beyond genetic research and ancestry groups. There has been a long documented trend of worse human diagnostic of non-white individuals and new technologies are only exacerbating this issue. The underrepresentation of women in clinical research or distrust of transgender people to participate in genetic research all point to other systemic barriers in science and medicine. In sum, the lack of diversity in genetic databases is not only a scientific shortcoming, but rather a manifestation of structural inequalities that cannot be considered in silos. 

When one talks about different axes of exclusion, the term ‘intersectionality’ immediately comes to mind. But is intersectionality as ‘mainstream’ in human rights law as it is in other disciplines? And how does a core human right in this context, the right to benefit from scientific progress, engage with the concept of intersectionality?

A Slow Burn: Intersectionality in Human Rights Law

First coined by Crenshaw in 1989, the term intersectionality has its roots in Black feminism. It refers to the ways in which multiple forms of discrimination – e.g., race, ethnicity, gender – interact and overlap to create compounded disadvantages. In the context of human rights, applying an intersectional lens can notably allow scholars to capture the complexity of human rights violations and unpack the different factors behind them.  

As of today, some United Nations (UN) human rights bodies have begun to integrate this perspective into their work. For example, the Committee on the Rights of Persons with Disabilities (CRPD Committee) acknowledged that women with disabilities “may be subject to multiple and intersectional forms of discrimination based on gender and disability” (CRPD Committee General Comment 1, §35).  Similarly, some Special Rapporteurs have made explicit references to intersectionality (e.g., in the 2001 Report of the Expert Group Meeting on Gender and Racial Discrimination in Zagreb, Croatia 10). At the same time, even if the term is not explicitly used, intersectional thinking can be found in certain human rights treaties  (e.g., the CRPD preamble) and in the case law of certain human rights bodies (e.g., it emerges from the ‘vulnerability’ case law that the European Court of Human Rights is at least aware of “intersecting forms of discrimination”, see B.S. vs. Spain)

However, such references remain the exception rather than the rule. Most human rights instruments do not mention intersectionality and the concept remains far from being “fully established” in human rights law. As a result, for the most part, the question of “how to implement intersectionality” in this field still appears to be open.  

An Intersectional Right to Scientific Progress in GC 25?

When talking about disparities in access to medical advances, a core human right is the right to benefit from scientific progress, codified by art. 15(b) of the International Covenant on Economic, Social and Cultural Rights (ICESCR). In 2020, this right gained renewed attention with the advent of the Committee on Economic, Social and Cultural Rights General Comment 25 (GC 25). As interpreted in GC 25, this right encompasses both the right to enjoy, without discrimination, the benefits of scientific progress, and the right to participate in scientific research (§11,15). States have obligations to respect, protect and fulfil this right (§23, 28, 41), which notably include the obligation to make all the necessary efforts to address persistent inequalities in scientific advancements (§27). 

The question now is the following: does the right to benefit from scientific progress, as interpreted in GC 25, make any explicit or implicit reference to intersectionality?

There is no explicit mention of the terms ‘intersectional’ or ‘intersectionality’ in the ICESCR nor in GC 25. To address the second part of the question (i.e., whether GC 25 engages with the idea of intersectionality) I analysed the text to identify references to the idea that different individuals within a protected group may be situated differently. 

The first inference of this analysis is that GC 25 clearly acknowledges that the realization of the right to benefit from scientific progress is not equally easy for everyone. The document refers repeatedly to “vulnerable and marginalized groups” (e.g., §16-17 or §47) and emphasizes that the right to benefit from scientific progress includes an obligation “to make all necessary efforts to overcome persistent inequalities” (§25). Under the title ‘international cooperation’, GC25 also recognizes “the existence of deep international disparities among countries in science and technology” (§79). 

The second inference is that, while GC 25 identifies several grounds of systemic discrimination, it discusses them separately. GC 25 specifies that “special attention should be paid to groups that have experienced systemic discrimination in the enjoyment of the right to participate in and to enjoy the benefits of scientific progress and its applications, such as women, persons with disabilities, lesbian, gay, bisexual, transgender and intersex persons, indigenous peoples and persons living in poverty” (§28, emphasis added). However, GC 25 discusses the structural factors behind these inequalities only for some of these groups – namely,  women (§29ss), persons with disabilities (§34ss) and persons living in poverty (§36ss) – and does not engage with how different grounds of discrimination may intersect or shape one another. The only instance where the idea of ‘multiple grounds of discrimination’ is mentioned is concerning women with disabilities at §35, which calls states to “promote the participation and contributions of persons with disabilities, including women with disabilities who face multiple discrimination, in decision-making procedures concerning science” (emphasis added). 

Conclusion

The right to benefit from scientific progress directly addresses the issue of underrepresentation in genetic databases. According to this right, everyone should have access to scientific progress and its applications – such as the medical applications developed based on genetic data – and special attention shall be paid to those who have experienced systemic discrimination – such as individuals from underrepresented ancestry groups. 

However, GC 25 misses a critical opportunity by not explicitly incorporating the concept of ‘intersectionality’. As many other systemic discriminations in accessing scientific progress, underrepresentation in genetic databases cannot be fully understood based on one axis of exclusion but is shaped by overlapping systems of social and structural inequalities. Although the right to benefit from scientific progress could still be interpreted using an intersectional analysis in the future, the absence of any explicit reference to the systems of oppression that have shaped the inequalities to access new medical advances is deeply regrettable. 

At best, this reflects a naïve misunderstanding of how inequalities in science and medicine are produced. At worst, and more plausibly, it illustrates the pattern observed by Marks and Theilen: international human rights law often focuses on individual abuses while failing to address the structural conditions that create them, and the continued dominance of Western and Western-funded organizations in the human rights institutionalized discourse reinforces the reluctance to use intersectionality as a framework for critiquing entrenched systems of oppression.