Dr. Jonathan D. Grinstein (Inside Precision Medicine) interviews Galatea Bio CEO and Venezuelan born founder Carlos Bustamante (Stanford University School of Medicine), who explains how a biobank of 10 million genomes can guide drug development and treatment for Latin America.
[Jonathan D. Grinstein, PhD, the North American Editor of Inside Precision Medicine (IPM), hosts a new series called Behind the Breakthroughs that features the people shaping the future of medicine. With each episode, Jonathan gives listeners access to their motivational tales and visions for this emerging, game-changing field.]
Imagine a future where your ancestry not only tells a story about your past but also holds the key to your health. That’s the vision that drives Carlos D. Bustamante, PhD, population geneticist and founder of Galatea Bio, as he embarks on an ambitious mission: building a biobank of 10 million genomes to transform drug development and healthcare across Latin America.
With thousands of founder populations scattered across the region—from the valleys of Medellín to the islands of the Caribbean—Latin America is a goldmine of genetic diversity. Yet, until now, it has been largely overlooked in genomic research. In this Behind the Breakthroughs episode, Bustamante explains why mapping this diversity can uncover genetic insights that will lead to better treatments for diseases that disproportionately affect these communities. [. . .]
IPM: What motivated you to establish Galatea Bio and create a new biobank?
Bustamante: Let me give you an observation about EGFR mutations in lung cancer. It happens to be that Asian populations have significantly more EGFR-positive lung cancer than European populations. Why could that be? It could be environmental or underlying genetics—we don’t know yet. How do you begin to think about that problem and then the development of new medications along the way?
The opportunity for learning something new in a biobank that hasn’t been sequenced yet will be higher than one that’s already been genotyped and sequenced. If you build it, then you may have the opportunity to learn new things because of these differences in population prevalence.
We started in Latin America for two reasons. One, we’re big believers in founder populations; in the Americas, you have a thousand or more founder populations. [Latin America] has many islands: Puerto Rico, the Dominican Republic, Cuba, and the Lesser Antilles. Then you have islands between mountains because each of those valleys is a different island. If you think about the “Paisa” people around Medellin, Colombia. In that case, they have a genetic founder set of alleles different from the coastal population, say, in Barranquilla or Cali, so we know that from a population perspective.
Now, how do you use that to do discovery at scale? We set an audacious goal to really move the needle, and we said if you got to a hundred thousand interesting cases for a bunch of these chronic diseases, that would be interesting. Still, just a hundred thousand random controls—many others like that. So, we need many cases, and if you got to a massive group, say 10 million people, you could have a mixture of cases and controls, and then you’d also find some of these protective alleles.
Ultimately, you want to build pharma consortia that get traction and can underwrite this sequencing, so we work closely with the instrument manufacturers to figure out how we would do that. In the United States, you also have a whole world of insurance-based clinical genetic testing that works. If you’re at risk of breast cancer in this country for hereditary reasons, then you can get that covered. It’s covered by either state-funded insurance, like Medicare or Medicaid, or it’s covered by private insurance. [. . .]
IPM: What have you learned from those who have come before you in the “DNA business,” like 23andMe?
Bustamante: Given my roots as a researcher and advisor to companies, I always try to remember the difference between research and clinical; it sometimes blurs in folks’ minds. But in general, we tend to have a pretty clear line when you’re talking about research, or you’re talking about clinical work, and there is a need to enable clinical testing at a scale that will identify people at risk based on bona fide, well-understood science and public health. That has built up over time.
If somebody sees a physician who believes that there may be a genetic origin to a condition or that understanding genetics can improve management, then let’s order a genetic test. [. . .] There’s a growing sensitivity around data, so we’re trying to be thoughtful in doing that by getting an IRB and having them tell us what we should and shouldn’t do with data. [. . .]
Taking off my Galatea Bio hat and putting on my fellow citizen’s cap, I believe we should have a marketplace where different products are available. I was very excited to help Ancestry DNA start their DNA business. They found that some people like genealogy and want to spend time online learning it, and DNA is a useful tool in that regard. [. . .]
IPM: What is it about population genetics that keeps you so fascinated?
Bustamante: Population genetics gave us a theoretical framework to understand genetic data; without population genetics, we wouldn’t be able to do a lot of the gene mapping stuff that has led to a bona fide understanding of the genetic basis of disease. That is not true for other areas; there’s no true theory about gene expression that gives you a null hypothesis to compare some. But it’s very different than population genetics, where you have bona fide math that drives an understanding, linkage, and disequilibrium evidence of selection, migration, mutation, and all of that stuff. So it’s a beautiful science that, for a long time, was just theory until we had data. That’s what, for me, was so fascinating. [. . .]
For full interview, see https://www.insideprecisionmedicine.com/multimedia/podcasts/behind-the-breakthroughs/from-medellin-to-the-caribbean-latin-american-diversitys-genetic-potential/
Dr. Jonathan D. Grinstein (Inside Precision Medicine) interviews Galatea Bio CEO and Venezuelan born founder Carlos Bustamante (Stanford University School of Medicine), who explains how a biobank of 10 million genomes can guide drug development and treatment for Latin America. [Jonathan D. Grinstein, PhD, the North American Editor of Inside Precision Medicine (IPM), hosts a
