Genomic research has made tremendous strides over the past decades, paving the way for breakthroughs in precision medicine. However, these advances have not benefited everyone equally. A glaring issue in this field is the systemic underrepresentation of certain populations, particularly indigenous groups from Latin America. In a recent talk at Queen Mary University of London’s PHURI, I had the opportunity to highlight the unique challenges and opportunities in addressing this disparity.

The global genomic research landscape has been dominated by studies focusing on populations of European ancestry. Leading repositories like PharmGKB—dedicated to gene-drug association data—exemplify this imbalance. While European and, to a lesser extent, Asian populations are reasonably represented, native populations from the Americas account for a minuscule fraction of the data. This disparity leaves indigenous communities underserved and their unique genetic profiles largely unexplored.

To understand why this underrepresentation matters, it’s essential to delve into the historical and geographical context of Latin America.

Our research seeks to bridge the gap in genomic representation by focusing on Peru’s indigenous communities. Through the analysis of 150 genomes from seven populations, we uncovered exciting findings:

One of the biggest challenges in advancing genomic research in Latin America is the lack of a coordinated framework. Unlike Africa, which has the H3Africa initiative—a Pan-African genomics consortium that secures international funding and fosters local research—Latin America lacks a similar structure. This limits the region’s ability to scale research efforts and fully capture its rich genetic diversity.

What could such an initiative achieve?

Collaboration with pharmaceutical companies can play a critical role in achieving these goals. In some regions, such partnerships are structured to ensure mutual benefit: companies gain access to valuable genetic data while investing in local research infrastructure. A similar model could be applied in Latin America, ensuring that profits from drug discoveries benefit the communities contributing their data.

The underrepresentation of indigenous populations in genomic research isn’t just an academic issue—it’s a question of equity and global health. Precision medicine aims to tailor treatments to the genetic makeup of individuals, but this cannot be achieved if vast swathes of humanity are left out of the equation. Indigenous communities in Latin America face unique health challenges, and understanding their genetic profiles could lead to breakthroughs in addressing these needs.

The genomic research community is at a pivotal moment. Awareness of the need for diversity in research has grown, creating a window of opportunity to correct historical imbalances. Latin America, with its rich and underexplored genetic heritage, is uniquely positioned to contribute to this effort.

By building a federated, inclusive approach to genomics, we can unlock the potential of indigenous populations—not only for their benefit but for the advancement of global health. The journey ahead is challenging, but the rewards promise to transform our understanding of humanity’s shared genetic legacy.

Here I provide some highlights of the visionary presentation that Jason Williams, Assistant Director, External Collaborations for the DNA Learning Center, Cold Spring Harbor Laboratory, gave at his invited talk at the University of Westminster on Friday 22nd, November 2024.

As technologies like genomics and machine learning redefine how we understand and interact with the world, Jason Williams, a leader in science education and training, recently shared his insights on making cutting-edge science accessible to underserved communities. Here’s a look at some key themes from his presentation, which you can also watch in the YouTube video below or listen in my podcast.

Williams emphasised the importance of empowering disadvantaged communities with scientific knowledge and tools. At the DNA Learning Center at Cold Spring Harbor Laboratory, where he works, students from diverse backgrounds are introduced to molecular biology and genomics through hands-on experiments. From transforming bacteria to sequencing DNA, these programmes aim to inspire students and provide them with skills that are often inaccessible in traditional school systems.

Impact in Numbers:

One of the most exciting innovations discussed was Oxford Nanopore sequencing, which allows real-time DNA analysis using a handheld device. This technology has dramatically lowered the cost and expertise barriers for genomic research, enabling high school students to sequence genomes within a week.

Some fascinating applications:

Williams highlighted a growing challenge: as biology becomes increasingly data-driven, traditional curricula struggle to keep pace. He advocates for integrating computational skills like Python programming and machine learning into biology education. However, he also recognises the need for simplicity, suggesting tools and workflows that allow students and educators to focus on discovery rather than coding complexity.

Equity in genomics isn’t just about affordability—it’s also about ensuring diverse voices and populations are included in research. Williams pointed to efforts like the Native American Biobank and initiatives in Nigeria and Puerto Rico, which aim to decentralise genomic research. By training local scientists and empowering them with tools like nanopore sequencers, these efforts combat the exploitative practices of “helicopter science,” where external researchers extract data without local involvement.

To scale these efforts, Williams and his team have developed innovative training programmes for educators:

Williams underscored the importance of community science in fostering trust and interest in STEM. Initiatives like public roundtables and interviews with scientists (e.g., with the first Crispr-treated sickle cell patient) create meaningful conversations that demystify science and make it relevant to everyday life. These efforts empower students to be ambassadors of science in their communities.

One of Williams’ most ambitious projects is a new STEM education and research centre in Puerto Rico. Located on the site of the iconic Arecibo Observatory, this facility will house state-of-the-art labs and community programmes, blending traditional science with cutting-edge genomics and computation. It’s a step towards making advanced scientific education a global reality.

Jason Williams’ talk was a rallying cry for making science accessible, equitable, and exciting. By combining cutting-edge tools with an emphasis on hands-on learning, he’s helping to train the next generation of scientists while addressing disparities in education and research. His work is a powerful reminder that science isn’t just for the elite—it’s for everyone, everywhere.

Originally published by Frontline Genomics, the parent organisation of the Festival of Genomics and Biodata 2025.

FLG: Hi everybody. Today, we’re joined by Manuel Corpas from the University of Westminster, who will be joining us at The Festival of Genomics and Biodata in London in January. We’re really pleased to get some time with you today. For the benefit of our audience, would you be able to tell us a little bit about yourself and your career?

Manuel: Well, I’m obsessed with genomes. I’ve been obsessed at least since 2008 when, as a postdoc, I joined the Sanger Institute to help develop Decipher,  one of the leading resources for rare genetic disease diagnosis. This formed the basis of a posterior project called DDD, Deciphering Developmental Diseases. This project sequenced 13,000 babies and children from the UK and Ireland in search for rare genomic disorders. It’s been one of the flagship projects from around the world in terms of our understanding of rare genomic disorders. After that, I started my own company called Cambridge Precision Medicine, which is part of the Cambridge University ecosystem. Then during the COVID pandemic, my wife said that she wanted to come closer to her family, so I moved to London and now I’m a Senior Lecturer in Genomics at the University of Westminster. I still have a kind of consultant role with Cambridge Precision Medicine, and I’m involved in a number of outreach projects from all over the world.

FLG: Sounds like you’ve had a really varied career. What initially sparked your interest in genomics, and bioinformatics in particular? You mentioned that you’ve been obsessed with it for a long time, but what triggered that for you?

Manuel: I did my PhD in bioinformatics at the University of Manchester. It was around classification of protein sequences, very much bioinformatics based, but I felt that the really exciting things were happening on the genomics side. Then I changed gears from proteomics into genomics in around 2008, when the first next generation sequencing technologies became available, and the first genomes sequenced became available. So, I made that transformation from array-based genotyping, into whole genome sequencing.

I also embarked on a series of crazy projects. I actually sequenced my genome and the genome of my family. I put it on the internet; it was probably the first family that made their whole genomes freely available for anyone to download. That sparked a publication on crowdsourcing the genomes of my family and trying to see the state of the art, because I’ve always been passionate about – the question that I’ve always had, I still have – to what extent do genomes actually inform our life choices, and how we can use this data to help us have better health.

At the time, when I was working at the Sanger Institute, which was pioneering their applications for patients, I could see how [it was] complicated, how much the clinicians and doctors struggled, and it was so bioinformatics based. I was passionate about trying to make sense of these big data sets. Then, that interest evolved into the Personal Genomes Project. After that,  I became obsessed with how we bring all of these benefits that we Europeans are enjoying to the huge amounts of people from around the world who – because of maybe lack of infrastructure, or lack of the appropriate financing – are not benefiting from genomics. I’m now building an international research network around Latin American diversity genomes.

FLG: It certainly seems like the last couple of decades, at least, have  been quite an exciting time to be involved in these fields. They’re adapting so quickly. But it doesn’t seem to necessarily translate into the clinic as quickly, and as you say, especially for non-European populations. So, how do you think we can go about bridging that gap between the research and the clinic, and how can the average researcher, in their day-to-day role, play a part in that?

Manuel: Obviously this is a very complex question, but I think that it’s taking its time, in a way, because we weren’t completely cognizant as to how complex this information was going to be, and how the different mechanisms that regulate heredity are incredibly convoluted. So, it’s that on one hand. On the other hand, I think it’s also access to technology. I mean, it’s not exactly cheap to sequence your genome. We saw that the prices dipped significantly in the late 2000s, but then that cost has kind of plateaued. I think that’s going to change very, very quickly now, and there are a number of contenders – some of them are actually exhibitors at The Festival of Genomics.

Then also, obviously, there’s the promise of long read. And some of the technologies are now able to produce, for the same price as you would do a whole genome, the methylation aspect. Looking at it from the inside, things have changed dramatically. When I did my first exome, which was around 2011, doing it from saliva was completely unheard of, and now this is kind of routine. That’s on the one hand, but I also have to say that I feel very lucky having been based in the UK, because it’s incredible how this genomic revolution has been led from here. You feel like you are really at the epicenter of where things are happening, with some incredible research, but also the companies around here. So overall, I also see new opportunities that are developing, a huge number of new roles and companies and so I have a huge number of expectations. It feels really, really exciting to be here and working in this field.

FLG: I think, of course, the scientific community has to be very involved in this shift from using European data sets to using more diverse data, and ensuring that the benefits are felt by everybody. But, of course, it’s not just the scientists involved in this. There are policymakers involved as well. How do you think that scientists and policymakers could work together to ensure that the benefits of this research can translate into better healthcare for people?

Manuel: I think from the scientific point of view, we have a tremendous responsibility. I’m going to say something that may sound a little bit controversial; I think we scientists can’t assume that our work is going to be trusted. We are in a new world – the world of social media and fake news – and there’s a huge amount of work on our part in terms of communicating transparently and making sure that we follow the utmost rigorous processes, ethical processes, in a transparent way, where we really are able to share with the public the benefits of our research. That’s one of the determinant ways of thinking in my own research. I can’t trust that people are going to necessarily trust what I’m doing. I need to earn their trust. So, that’s the very first thing.

Secondly, I think that we need to be aware of historical practices of exploitation, of genetic colonialism. We now live in the George Floyd world, where there have been critical acknowledgements of abuses in the past, and we have to be particularly sensitive about making sure that the values of equity, diversity and inclusion are, in my view, at the top. And at least in my research, these equity, diversity and inclusion efforts have been at the absolute top.

Then the other thing that I want to highlight is respect for different cultures, for different ways of interpreting science. Sometimes, because we are based here in the West, we think that our way is the way of doing things. And actually it’s not, not necessarily. So, I think there’s a lot of work to do on our part in terms of engagement with patients, but also with the communities that we want to serve. Not just from the point of view of paternalistic dialogue, it’s actually an engagement where we have a commitment, not just to make sure that we do the research, but also that we share the benefits and that what we are doing is truly relevant, not just for the few, but for the many. This is something that I personally take very seriously. And I think this is the flagship of where we need to look, in terms of spreading and making genomics more accessible to people from around the world.

FLG: I think that’s all really important. It’s something we should all take seriously. I do think it can almost be easy in the scientific world to fall into that trap of assuming that you’re the expert in the room, when often it’s a patient or somebody from another culture who does things differently, and that doesn’t mean they’re doing things wrong. It can be very easy to fall into that trap of thinking you know best. So, it’s really important that people take all of that on board.

And the point around trust is a really important one. Do you think that the COVID pandemic helped or hindered that trust? Because I think it differs depending on who you ask, in terms of whether the public believe the science or not.

Manuel: I think it has hindered it but, of course, I have no data to support this. This is just my own gut feeling. For example, President Trump talking about putting detergent in his veins to cure the disease. Although, I’m not blaming him, because at the end of the day, it’s just a reflection of his constituency. And there are millions of people that think that way. I think they have very valid reasons to think that way, because they don’t see the benefit of the taxpayer money that is being spent, and they also are exposed to fake news, and we live kind of in turmoil where we don’t really know who’s telling the truth. So, I think the issues, in terms of how to spread the benefits of genomics, I don’t think they are technical anymore. I think they are social and ethical. We really need to think more about how we’re going to serve the people we are intending to help. There’s a lot of outreach that, in my view, we should think about whenever we develop these new initiatives.

FLG: Something that I wanted to talk to you about was your upcoming expedition to the Amazon, which sounds really exciting, and I’m going to give you the floor to tell our audience about your trip.

Manuel: Thank you for the opportunity. So, this has to do with the fact that we live in a world where about 80 to 90% of all data in genomics is based on European data. Of course, this hasn’t been actively pursued. You know, the research was developed in the West, and most people in the West are white, rich people. But it is clearly biased, and it clearly now has become a hindrance for this field to really flourish and develop. There have been a number of great initiatives in Africa. For example, H3 Africa, which, with the Wellcome Trust and the NIH, is developing a network of human heredity and health with strong emphasis on genomics. This platform has been incredibly useful as a way to distribute international funding and build capability in different countries across Africa. There are funds that are for projects and for scientists who are local, so scientists from Africa can develop their own local ideas, right? So, it’s not the West imposing their values, but it’s actually the local people working on the problems that they care about. And collaborators are the same on the same level; not looking over their shoulders, but actually we’re equal here. That has worked really well for the development of not only capability, but also huge training opportunities. And we have advanced quite a lot in our understanding of African genomes, which is the most diverse set of populations from around the world.

But I haven’t seen that in Latin America. And Latin America has 800 million people, so it’s about 10% of the global population. Their representation in existing genome wide association studies and pharmacogenomics data sets, if I remember correctly, it’s around 1%, or less than 1%, so they are significantly underrepresented in our understanding. And yet we know that it’s one of the most diverse areas from around the world in terms of different populations. You have the Andes, the coast, which is desert, really. If you’ve ever been to Peru, it’s like being on the moon. But then you go over the Andes, and you have Titicaca Lake, 3,500 meters high. You have populations there, like the Uros, which is one of the populations I’m studying, where they live on floating islands. And when we look at their gut, we see that they have like 10 or 15 different parasites living with them. And when you give them antibiotics to try to cure them, they get sick.

So, the purpose of this Amazon trip is really to look at some of the tribes and some of the communities that, as of today, have been isolated for millennia. There is a crucial window of opportunity that we have, because we think that in the next 30 to 40 years these communities won’t exist anymore, because they will have come into contact with the rest of the world, and they’ll basically emigrate in and then they get admixed. So, we have a very limited window of opportunity. And yet, through our collaboration with the Peruvian Genome Project – which I’m now part of, I’m now a Principal Investigator (PI) for this project – the idea is that we want to engage with these communities. So, it’s going to be a way to really look at the specific genetic traits that have enabled these communities to survive and thrive in the Amazon. We hope to understand these adaptations, so that we can translate them into precision medicine strategies tailored to their specific needs, so that we could apply them to other populations with similar genetic traits.

It’s also about this idea that the current global genomics datasets are tremendously skewed towards European populations. We want to be able to not just do the data collection but also engage with these communities. We want to learn about their traditions. We want to ensure that their voices are heard in the global conversations about genomics. We want to work closely with community leaders to ensure that our research is conducted ethically and respectfully, with the goal of creating collaborative partnerships that benefit everyone involved. The idea really is to focus on the underrepresented populations from Latin America, for which, as I said, there’s nothing like H3 Africa. I know, for example, the Bill Gates Foundation, they’ve wanted to invest money there, but they don’t have any trusted international organization.

The other thing is that there’s no network. You have the Peruvian Genome Project, you have the Mexican Genome Project, and Colombia is also doing quite a lot of work, but the opportunity to be able to synchronise and coordinate would allow these projects to have a much greater impact. Because if we have the appropriate infrastructure in place that allows safe sharing of data, we could have greater numbers and greater statistics to develop better science.

We’re going to go with a camera crew, and right now, I’m in the middle of getting all my injections, my vaccines, because we’re going to be in places that you either access by helicopter or by river, there are no roads, so it’s going to be, I guess, a discovery expedition of the 21st century! Obviously, it would never be like what Charles Darwin did, but it’s going to be the tiny little approximation from a Spaniard trying to do something within his humble means.

FLG: Well, it certainly sounds like you’re very dedicated to the cause, because it sounds amazing what you’re going to do, it’s so important. And it could transform the genomics landscape for these communities. I applaud you for going out there and doing this. It will be really exciting.

Manuel: I genuinely believe that The Festival of Genomics will be a great platform for me to be able to disseminate and tell the world about this research, because there’s no point in me doing these things if I’m not able to tell the people about these opportunities.

I think also, there have been a number of Latin American efforts. I can think, for example, of what Carlos Bustamante recently announced with Illumina, where they said that with their new company, they were going to sequence 10 million Latin Americans. We can’t compete in terms of the numbers, but we can compete in terms of the diversity, because already, with about 1,000 genomes that we’ve been able to collect, we have around 30 different populations spread across the Amazon, the Andes, the coast. So, I think it’s not just a question of the numbers, it’s also a question of the diversity, and that’s really what we are trying to do to differentiate ourselves. And I think we can do it, because obviously this is the work of my collaborator, Heinner Guio, who is Peruvian, and he’s located in Lima. He’s been working for more than a decade with the Ministry of Health and the local authorities, then talking with the community leaders. We’re actually going to need translators for some of these communities, because they don’t speak Spanish.

I think this journey coming up, it’s as much a cry for attention to try to open eyes to a severely underserved continent, and hopefully make genomics richer, more diverse, more inclusive, and really achieve the promises that the Human Genome Project made 25 years ago, which is to improve health and make the genome the legacy of humanity, and not just for a few. I don’t think there are many fields, scientific fields, that can have the luxury of saying these things. That’s why I feel completely privileged, and that’s why this is probably one of the most exciting times in my whole scientific career.

FLG: Yeah, that certainly sounds exciting. And it’s not long now until you head off, so you must be very busy getting prepared for it!

Your point around communicating that research, and the Festival, for example, being a good platform for it, is so vital, because I think it can be very easy, especially in the West, to see research that’s going on, and think, ‘oh, genomics and other areas of research, they’re taking off. It’s translating into the clinic.’ And it’s really easy to forget that for a lot of populations, that isn’t the case, and without work like this, it won’t be the case. It’s really crucial to have some kind of platform and have people like yourself who are going out and spreading that word and sharing what you’re doing.

That leads me on to a question about the Festival. You’re speaking in January at the event, what was it that drew you to the Festival, and enticed you to agree to speak. What are you looking forward to about the event?

Manuel: I’ve attended pretty much every Festival, and I’ve already spoken in the past. For me, the Festival of Genomics and Biodata is really a flagship event for the year. As a genomicist, I need to be there. It was a no brainer. And I’m really grateful, to be honest, that I have this opportunity because, as I say, it’s probably the leading event in genomics, at least on this side of the Atlantic. It’s a no brainer for me. It has a huge amount of exhibitors, so it’s not just about learning science. It’s also a meeting point for colleagues I’ve known for decades now, and for building new collaborations, understanding and developing potential new projects. I will certainly be on the lookout for what technologies are being advertised, what vendors there are, what they have to offer. I have had the opportunity to meet people and speak directly with them and build collaborations at a global level more quickly. So, I don’t think it was a difficult decision to make, to be honest!

FLG: That’s lovely to hear, and I’m glad to hear that you’ve enjoyed yourself when you’ve attended previously! Something that we really care about at the Festival is the fact that we can offer these things for free, so that we can try and foster that experience for people – the collaboration, the networking and the learning. How do you think that events like this can help with that growth for people?

Manuel: I should have said that! What this is contributing to the growth of the community is untold. Because it’s a great incentive, you know? I don’t know of any other type of event like that, where it’s for free, and of course, it’s a huge incentive for people to be able to attend. Not just the people who can afford it, but also the academics, the students, the researchers. So, I can only applaud that gesture, which is really a tremendous boost for building the community around London, around the UK and around this side of the Atlantic. I’m very thankful for that and I want to say thank you to you guys, and to Richard especially.

FLG: I think, really, we would want to thank you for coming along. Without speakers, exhibitors and attendees, it wouldn’t exist. So, it’s a big thank you to you as well. You’ve already given us some insights into it, but what do you think the audience will gain from coming along and hearing your talk?

Manuel: My talk specifically, or everyone’s?

FLG: I mean, both, if you have any insights there!

Manuel: The first thing, whenever I go to the Festival of Genomics, is you suddenly immerse yourself in the genomics bubble. It’s almost like going into this kind of haven, a genomics haven, where, at last, you know you are not the only one. You see so many people from all over the world thinking like you and being really keen to share information, learning from each other, building relationships and really having a good time, you know? That’s on the one hand. Then secondly, I also find many like-minded people who are obsessed with the same questions that I’m obsessed with, and that sense of community is, for me, one of the greatest things that I can get out of the event.

And then also, obviously, you get to learn things that you didn’t expect. You build new relationships. And, of course, you have a lovely time. I think I might have shared with your colleague one of the videos that I took from the past Festival of Genomics, and it’s just so vibrant. You get this feeling of being part of it. For me as a genomicist, that is completely invaluable.

More specifically about what I’m going to present, it’s obviously the fact that we will be presenting, for the first time, data and results from populations that have never been studied before. Combining it with the setting of the Amazon jungle, I think that’s quite different. And of course, the strong message that I will be giving about equity, diversity and inclusion, the respect for these cultures. Me being someone coming from Europe, I take particular care to make sure that whenever I speak, I’m always going to talk about a number of things, and respect for peoples and traditions. Then, the acknowledgement of their cultural significance, their heritage and their civilization. I strive to honour their legacy and ensure that my research upholds the dignity and respect owed to the descendants of the Inca Empire and any kind of indigenous population. And then there’s the fact that I will be condemning genetic colonialism, which I unequivocally condemn, and I’m dedicated to ensuring that the benefits of research will be shared equitably with the communities involved.

FLG: I think that’s all really important, and I’m really excited to see the results of the work and hear your talk in London. A final question – what advice would you give to a young researcher wanting to follow in your footsteps, and who wants to address these issues in their work?

Manuel: Don’t be ashamed of asking people. Approach anyone that you admire, talk to them, ask them questions, read their work, introduce yourself. This is your opportunity for networking, building the social aspect of research. There’s this sort of thinking that researchers are isolated, looking at their experiments, very individualistic. That’s completely the wrong vision of what science is. Our science is incredibly interdisciplinary, multi-dimensional, multi-collaborative, and you need to be able to show them how keen you are. Show initiative, that you’re not going to repress yourself, you’re not going to be shy. You really need to sell yourself if you want to succeed. It’s as much about marketing your own skills, your own research. Talk about your research. Don’t worry about people stealing your ideas. Nobody’s going to do exactly the same thing as you are doing.

Make sure that you don’t neglect the social component of science. The Festival of Genomics and Biodata is a place where you will have the opportunity to build those soft skills, which are, as I say, as important as the science and technology itself. Because without those contacts, without the ability to be able to interact with the people who are actually developing the field, you’re going to be severely handicapped. That’s why I think the Festival of Genomics, having this concentration of the best genomic science in the world, is such an incredible opportunity. It’s just a shame that I can’t attend all of the different tracks and talk to everyone I want to talk to! You know, we need to think about some kind of technology to make sure that we don’t miss everyone we want to talk to, or something! But anyway, I think it’s as good as it gets for me, at least here in the UK.

FLG: Thank you so much, and we’re really excited to have you in January. And I think that I can speak for everybody who’s listening to this interview when I say that your work sounds really exciting, and we can’t wait to hear what comes out of your expedition! Thank you again, and we’ll see you in January.

In this insightful interview (in Spanish), journalist Alejandro Sacristán sits down with Dr. Heinner Guio and Dr. Manuel Corpas to discuss their first impressions after visiting indigenous communities such as the Boras in the Amazon and the Capiuros near Lake Titicaca.

The researchers share stories from their time in the field, highlighting how climate change is affecting these communities and the uncertain future they face. They also reflect on the need for social justice, emphasizing how this expedition aims to pave the way for indigenous communities to access precision medicine tailored to their unique needs.

Don’t miss this inspiring video! Watch now to learn more about this groundbreaking journey to uncover the genetic legacy of lost indigenous communities in Latin America.

Note: The interview is in Spanish.

#PrecisionMedicine #IndigenousCommunities #ClimateChange #SocialJustice #Genomics #Peru

I’m excited to share a new interview where we dive deep into a pioneering scientific mission focused on uncovering the unique genetic traits of Latin American indigenous populations. Led by myself and Dr Guio, this research aims to understand the hereditary secrets of indigenous communities and explore how they can be applied in precision medicine.

The interview is conducted in Spanish, and you can watch the full video on YouTube or listen to the podcast version, both now available!

Don’t miss this fascinating discussion where we blend science, culture, and the future of healthcare.

#Genomics #IndigenousCommunities #PrecisionMedicine #LatinAmericanScience #GeneticResearch #Podcast #YouTube

This presentation was delivered in Spanish by Dr. Manuel Corpas at the Latin American Genetics Symposium 2024 in Medellín, Colombia, where he explores the genetic legacy of the Inca Empire and how the Peruvian Genome Project is reshaping our understanding of indigenous populations. A rehearsal of this presentation has been recorded and uploaded to YouTube and can watch it below. Here you can learn about the importance of representing underrepresented communities in global genomic research, the ethical challenges of working with indigenous data, and the impact these findings have on personalised medicine.

Introduction: In the realm of genomic research, one of the most underrepresented groups in global reference data sets are the indigenous populations of the Americas. This includes the descendants of the Inca Empire, whose rich heritage and genetic adaptations have much to teach us about human resilience and diversity. My ongoing research, along with the Peruvian Genome Project, focuses on addressing this gap, ensuring that these populations are not left behind in the era of genomic medicine.

Respecting Indigenous Cultures and Traditions: Working with indigenous genomic data is a privilege that comes with great responsibility. The cultural and historical significance of these populations demands sensitivity and respect. Our efforts aim to honor their legacy while ensuring that the dignity of their descendants is preserved. This is not just a scientific endeavor, but a cultural one that requires recognizing the humanity behind the data.

Challenging Genetic Colonialism: A critical issue in genomic research is the risk of “genetic colonialism,” where the benefits of research are disproportionately reaped by those outside the studied communities. I unequivocally condemn this practice. Our work is guided by ethical standards that ensure the autonomy and rights of indigenous populations are respected. We are committed to equitable sharing of research benefits, ensuring that the communities involved directly benefit from the insights gained.

Building Trust Between Science and Indigenous Populations: Historically, there has been a profound distrust between indigenous populations and the scientific community. This stems from centuries of exploitation and a lack of representation. Through transparency, collaboration, and dialogue, we aim to build bridges of trust. The goal is to foster a relationship where science becomes a tool for empowerment rather than exploitation.

Why Indigenous Genomic Data Matters: The genomic diversity of Latin American populations, particularly indigenous groups, is vital for developing accurate and applicable reference panels. Current global datasets are heavily skewed towards individuals of Anglo-Saxon descent, leaving a significant gap when it comes to populations like the descendants of the Inca. This lack of diversity has serious consequences—it compromises the ability to deliver precise diagnostics, treatments, and risk assessments for individuals from underrepresented groups.

The Peruvian Genome Project: The Peruvian Genome Project stands at the forefront of addressing these disparities. This scientific initiative seeks to sequence and analyze the genomes of Peru’s diverse populations, including those in remote regions such as the Amazon and the Andes. By focusing on these indigenous communities, the project aims to uncover unique genetic variants that offer insights into how these populations have adapted to extreme environments. This is more than a quest for knowledge; it is an opportunity to improve health outcomes for individuals whose genetic data is often overlooked.

The Genetic Legacy of the Inca Empire: The Inca civilization is one of the most iconic in world history, and its genetic legacy continues to shape the modern population of Peru. Evidence suggests that around 23,000 years ago, the ancestors of Native Americans diverged from East Asians, undergoing a long period of isolation before arriving in the Americas. This isolation likely contributed to unique genetic adaptations, particularly in response to environmental challenges such as high altitude and infectious diseases.

Clinical Implications: One of the most important findings from the Peruvian Genome Project relates to genetic predispositions in immunity. Indigenous Peruvian populations show over-representation of immune response genes, which could explain their susceptibility or resistance to certain diseases. This knowledge has the potential to transform how we approach public health in indigenous communities, particularly in the context of infectious diseases like tuberculosis or influenza.

Conclusion: The Peruvian Genome Project and similar initiatives represent a turning point in genomic research. By focusing on underrepresented populations like the descendants of the Inca Empire, we not only enrich our understanding of human diversity but also pave the way for more inclusive and equitable healthcare solutions. Indigenous populations are not just subjects of study—they are key contributors to the future of genomic science.

This talk was given at the University of Westminster on 25/07/2024 as part of the London Bioinformatics Meetup: https://www.meetup.com/bioinformatics-london/events/299514948/

The underrepresentation of non-European populations in genomics datasets limits our understanding of genetic associations to diseases and the translation of promising cures to under-represented populations. For example, gender bias in pharmacogenomics results in higher rates of adverse drug reactions in women, who are underrepresented in clinical trials and genetic studies, while diversity biases results in a broad range of neglected diseases in less represented populations.

Ensuring equitable access to the benefits of genomic research is not only a matter of justice but also a fundamental human right. Efforts to address biases and promote diversity in genomics are essential for upholding these ethical principles and advancing global health outcomes.

Addressing the bias in reference datasets for healthcare is essential for ensuring equitable healthcare outcomes across diverse populations. My research group has been working on the problem of trying to understand what current biases exist across different data reference resources that are routinely used to make health inferences. This research is in the process of being published and I have been quite vocal wherever I could in terms of what this means for undeserving populations. It is about time that action is taken in order to address the lack of underrepresentation for many global populations. That said, the solutions are not easy to attain. There needs to be a hige effort for these disparities to be reduced. A lot of the time I wonder what would be needed for these gaps to be closed. Below I provide some very high level solutions, but most importantly, there needs to be greater awareness of what this means for all humanity. Here are some suggestions for actions and solutions to consider in order to address these biases:

In conclusion, incorporating these solutions and actions into global policy could provide a a comprehensive roadmap for addressing the ethical challenges posed by biased reference datasets in healthcare. Highlighting specific case studies or “use cases” where disparities in data representation have directly impacted communities can also make a compelling argument for the need for urgent and concerted action. Such development of “use cases” affecting underrepresented populations is something in which we are in the process of publishing. Our hope is that literature like that will shed light on how unequal data representation are affecting the lives of some global communities who are unable of benefit from current precision medicine advancements.

If you cannot wait for the paper, I suggest you watch or listed the presentation below, where I give a current overview of my research around how reference datasets for healthcare are all incredibly biased. Here I chart datasets such as genome wide association diseases, pharmacogenomics, clinical trials and direct to consumer genetic testing and measure their degree of data missingness of diverse populations.

The London Bioinformatics Meetup on Feb 29th 2024 was a profoundly impactful event, weaving together critical issues across bioinformatics, health data, democracy, AI, and the personal experiences of the speakers. Here’s a brief overview of the key themes and speakers:

Prof. Nitasha Kaul’s Presentation: Addressed the severe consequences of cyberbullying that she faced after being denied entry into her own country, India. Prof. Kaul’s experience highlights the risks involved in expressing personal opinions on sensitive topics like democracy and the challenges posed by AI. Her courage in speaking out after such a distressing experience adds a significant personal and emotional dimension to the discussions on the intersection of technology, politics, and individual rights.

Prof. Louise Thomas’s Presentation: Focused on the role of fat in health, utilising imaging data from the UK Biobank. Prof. Thomas pointed out the limitations of this dataset, notably its skew towards ‘white British’ participants, while also acknowledging it as the most comprehensive compendium of imaging data currently available. This presentation underscores the importance of inclusivity and diversity in scientific research datasets to ensure findings are representative and applicable to broader populations.

Introduction by Prof. Miriam Dwek: As the Director of Research at the College of Liberal Arts and Sciences at the University of Westminster, Prof. Dwek’s introduction set the stage for an event that promised to engage deeply with the complexities of our modern world, through the lens of bioinformatics and beyond.

This meetup offered a multifaceted exploration of how bioinformatics intersects with broader societal issues, such as cyberbullying, democracy, health, and data inclusivity. The speakers’ insights would indeed inspire attendees to think critically about our “New Brave World,” encouraging a reflective and forward-thinking approach to the challenges and opportunities that lie ahead in the realm of genomics, health, and technology.

Last Wednesday 21st of February I gave for the University of Canterbury Christ Church I present ‘the Missing Ancestry Problem’. You can watch the video in YouTube or listen to it as a podcast below.

In the ever-evolving field of genomics, the data we collect and study has a profound impact on the future of healthcare. But there’s an issue at the heart of this scientific advancement: not everyone is equally represented in genomic datasets. Why does this matter? Because without a comprehensive genetic blueprint of all human populations, we risk creating a healthcare system that only works for a few.

Imagine walking into a store knowing it only caters to 10% of the population — you’d feel left out, wouldn’t you? That’s what happens when genomic research overlooks vast swathes of the global population. Patients from underrepresented groups are less likely to benefit from the advancements in healthcare that genomics promises. This is the inequity we’re currently facing, and it’s one we must address to avoid perpetuating existing biases.

Our team has taken a deep dive into the representation of global data in genetic studies. We’ve looked at genome-wide association studies (GWAS), pharmacogenomics (how genes affect a person’s response to drugs), clinical trials, and even the tests that consumers take at home to learn about their ancestry or health risks. The findings are a wake-up call: the genetic data we’re currently collecting does not reflect global genetic diversity.

To put it simply, some populations are not being studied considering their numbers in the global census. This gap means we’re missing out on the full picture of human genetic variation. And as we move towards an era where genomics informs everyday medical decisions, we can’t afford to have blind spots if we are to fulfil the promise of precision medicine.

It’s time for a strategic shift. We need to deliberately include diverse populations in genomic research. It’s not just about adding numbers; it’s about enriching our datasets with the variety of genetic data that humanity has to tell. This isn’t a problem for future generations to solve — it’s a challenge for us, here and now.

Ensuring that everyone is represented isn’t just good science; it’s a step towards a more equitable healthcare system where everyone benefits from the genomic revolution.