Celebrating National DNA Day: Population Genomics

National DNA Day commemorates the discovery of the DNA double helix and the completion of the Human Genome Project. This year, Nature Communications and Communications Biology celebrate National DNA Day by highlighting researchers that have prioritized genomic studies in underrepresented groups.

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April 25th marks National DNA Day, a chance to celebrate the initial discovery of the DNA double helix structure in 1953 and the completion of the Human Genome Project in 2003. This year, editors at Nature Communications and Communications Biology wanted to celebrate National DNA Day by highlighting researchers that have emphasized genomic analyses in historically underrepresented populations. Here, we asked researchers about their own achievements, the importance of diversity when pursuing genomic studies, and how to achieve better inclusivity in STEM.

Dr. Samira Asgari is a postdoctoral research fellow at Brigham and Women’s Hospital in Boston, Massachusetts. Dr. Asgari’s research focuses on how human population history has shaped global genetic diversity and how this genetic diversity translates to different phenotypes. She is particularly interested in understanding the mechanisms by which our bodies fight infectious diseases and studies these diseases in diverse human populations, especially those currently underrepresented in human genomics studies. [Photo Credit: Lionel Pousaz]

Choosing human genomics was not a planned decision. When I was exploring different labs for my PhD, I saw the description of the project that ended up being my main doctoral work. It was about using high-throughput sequencing to identify the genetic causes and molecular mechanism that make a small fraction of otherwise healthy children extremely susceptible to viral respiratory infections. I just loved the idea and knew that I wanted to pursue this project. That’s how I ended up a statistical geneticist.

Until very recently in human history, populations did not mix extensively. Geographical separation, combined with different evolutionary forces (such as pathogens, climates, food resources, etc.), and random mating led to genetic differences between populations. These differences can be linked to diseases or other health related outcomes. These differences can also make a given population at-risk for specific genetic diseases. As a result, it is important to generate genetic data from diverse populations to ensure an equitable application of human genomics in the clinic.

I deeply believe that diversity is essential to promote equality in the workplace, but also to foster innovation. I don’t have my own research group yet, but I have several points in mind to ensure it will be as diverse and as inclusive as possible. An important first step is to be proactive, for example by having inclusive recruitment strategies, advertising open positions in diverse platforms and among diverse communities. Another important point is to prompt an environment where people have access to equal opportunities and feel safe and respected regardless of their differences and are comfortable to share their concerns and opinions.

Dr. Maria C. Ávila-Arcos is an Assistant Professor at the International Laboratory for Human Genome Research at the National Autonomous University of Mexico where she leads the Population and Evolutionary Genomics research group. Her research investigates the genomic-level effect that European colonization has had on the populations in present-day Mexico.

The research my group does has three main angles: 1) The study of genetic diversity in human populations prior to European contact through paleogenomics, 2) The paleogenomic study of the ancient pathogens that were introduced during European colonization and 3) The genetic legacy of the enslaved individuals forcibly taken from Africa to the New Spain, through the genomic characterization of Africans in Colonial Mexico City and of present-day Afromexicans.

I got my Bachelor's degree in Genomic Sciences from the National Autonomous University of Mexico. This is a one-of-a-kind program where students are actively exposed to research in genomics from day one. The school is part of the Center for Genomic Sciences and most professors were researchers at the Center or at the Biotechnology Institute, which was next door. Therefore, we (the students) were constantly exposed to the research life of these two institutes and many of us were interns at the labs there. As a result, I always saw research as a natural path for me. Most of my schoolmates also followed a career in genetics research and now many alumni are group leaders at research institutions in Mexico and the USA. Some also work in industry and even own successful biotech companies!

There are many reasons to generate diverse genetic resources, but to me the core reason is justice. The human genomics field is reproducing the social disparities that already exist and if we don't change things it could contribute to further widening the gap between privileged and underserved groups. The overrepresentation of historically privileged populations in catalogues of genetic variation perpetuates the imbalances between these and populations in the "global south", as well as Indigenous peoples. One concrete example is studies that show how associations found in GWAS for a given population cannot be transferred directly to populations with a different demographic history. Since most GWAS (>80%) have been done in European or European-descent populations, we cannot be certain if the association holds or not for individuals of different ancestries. In a nutshell, we miss out a lot by not studying the diverse spectrum of human populations. This should be addressed ethically, avoiding the reproduction of colonial practices, or ‘scientific colonialism’ of already vulnerable groups, as it has occurred already in some projects involving indigenous peoples.

I feel that diversity is appreciated differently in Mexico than in the USA, where you have many recognized minority groups. In Mexico, because of historical and political reasons, we have been sold a narrative of a homogenous ‘mestizo’ society nationwide, with a marginalized mention of Indigenous populations, all collapsed under the ‘Indigenous’ label and erasing the diversity within this group, more recently with Afrodescendants. So we define diversity based on a different criteria. Having said this, I try to provide my research group with as many tools as needed to make them feel safe and comfortable, regardless of any identity/personal situation/particularity. I make sure they know that I listen to them and that I deeply care about their wellbeing. Also, I make sure we have many opportunities to discuss the ethical aspects of our research and the importance of justice in scientific research. I am always very vocal with my group and on social media about the need for justice in academia, with a particular fight against sexual harassment. I make sure my students know where I stand on these and other issues so that they know that I will always put up a fight (and I have many times) if they were to face any injustice in academia. Lastly, as a woman and mother, I put a lot of emphasis on the need to level the field for women in science. Indeed, at the moment most members of my group are women.

Dr. Andrés Moreno-Estrada is a Principal Investigator at the National Laboratory of Genomics for Biodiversity (LANGEBIO) in Mexico. His research aims to characterize the genetic profile of underrepresented populations in genomic research, particularly from Latin America and the Pacific.

I chose to pursue a career in genetics research because genetic variation is part of the essence of understanding what we are as species, as diverse populations and what makes us unique as individuals.

It is important to generate diverse genetic resources because diversity is key to appreciate the value of people’s heritage through evolution and the importance of enabling medical genomics research in multi-ethnic populations globally. By partnering with local experts and students passionate about contributing to the representation of understudied populations in genomics, it creates inherently diverse and inclusive working groups and collaborative networks.

Dr. Philip Wilcox is a Senior Lecturer in Quantitative Genetics at the University of Otago. He is developing genomic resources and underpinning research to enable genomic medicine for indigenous New Zealand Māori.

Currently, I’m working on the development of a catalogue of genetic variants for health applications and comparing different analytical approaches for estimation of disease risk. I am also working on a pilot study that combines health and DNA information to inform nationwide scale-up of genomic medicine in an Aotearoa/New Zealand context.

The primary driver for choosing a career in genetics research has always been the betterment of our people and our country. I’m lucky in the sense that I find research and teaching (which includes teaching in our communities) to be fun and very rewarding, despite being very challenging in an environment that is often culturally unfriendly and at times, unsafe. Irrespective, I believe that gene technologies have emancipatory potential for indigenous peoples, so I see potential for many health, social and economic outcomes. Because I’ve been research-active in plant species (primarily forest trees) and human genetics, as well as developing indigenous Māori ethical frameworks to inform study design and conduct, the content of my work is highly variable and therefore extremely interesting. Despite the aforementioned challenges, I’m extremely lucky to have such opportunities!

It’s important to generate diverse genetic resources in order to maximise the opportunities for our communities provided by modern genomic technologies. For me, that means not only developing the right resources for genomic medicine, but also ensuring that those resources have appropriate indigenous governance, and therefore be used for improving health outcomes and help reduce the ongoing health inequities for our people. 

I try to provide a culturally safe environment and role model culturally appropriate values and behaviours to my students and collaborators, irrespective of their ethnicity. I mentor upcoming Māori ECRs, supervise Māori and Pasifika graduate students, as well as co-organising and teaching the SINGAotearoa programme www.singaotearoa.nz. In all of these contexts, I try to encourage my students to take a broad perspective and understand the cultural contexts which their research sits within. This more holistic approach is also consistent with indigenous world views and norms.  Part of this is motivated by my own experiences as a student - which included being expected to leave our culture at the lab door, as well as being mocked by some non-Māori as being ‘token’. In addition, ongoing racism meant that Māori knowledge was buried, and considered of little value to modern genetic sciences  – despite the reality that Māori had intellectual traditions which included our tupuna (ancestors) maintaining knowledge of over forty generations of descent (compared to only a few generations in mainstream society), as well as having advanced concepts of hereditary inheritance that are embedded throughout Māori cultural practices and norms. Acknowledging this mātauranga (traditional Māori knowledge) and the associated practices (‘tikanga’) is therefore a more academically and scholarly approach to investigation and utilisation of hereditary inheritance. Moreover I feel strongly that being respectful and cognisant of multiple cultures’ worldviews and their knowledge regarding genetic inheritance promotes a diverse and inclusive environment.



George Inglis

Associate Editor, Springer Nature