Having a father as an infectious disease doctor brought Carlos Bustamante an early exposure to medicine. But still, Carlos always imagined he would grow up to become a lawyer. With a confident demeanor and powerful voice, Carlos could command a room. He thrived in debate club and theater classes and had been convinced since he was young that law would suit him best.  

If not for his nomination by his high school to go to the National Science Foundation Camp, his affinity for legalese and legal arguments may have taken root. Instead, science camp hastened his curiosity toward science. 

Carlos would go on to spend his last high school summer learning modern physics and applied mathematics, which served as his first immersion in STEM — and his introduction to people who shared a passion for it. “I began associating myself with the kids who’d much rather spend their summers at math and science camp instead of the other cool things high school kids could do in Miami,” Carlos said. “Nerd-Carlos was able to realize his full nerd-potential.” This opened his world up to new possibilities and influenced his education and career journey to genomics and health.  

Fast-forward to today, when Dr. Carlos Bustamante has built upon those underpinnings from a teenage science camp to become a prominent scientist, investor, and academic accelerating genomic discoveries in understudied human populations. In honor of Hispanic Heritage Month, Carlos shares more with us about his life, education, career, and how he became a world-renown leader in science pioneering initiatives that ensure representation and inclusion in health. 

Hi, Carlos. Thanks for taking the time to share more about your life and career journey with us. Can you tell us more about your life growing up as young Carlos?  

I migrated to the United States from Venezuela when I was seven years old. When we arrived in Maryland, there were no Latinos. We had to travel all the way to Washington D.C., about an hour away from our house, just to experience anything that reminded us of home. It sometimes felt like I was a fish out of water. Believe it or not, when we moved to Miami during my high school years, I experienced culture shock. So many people were speaking Spanish, it was fascinating! Suddenly, the tables were turned. I went from being part of the minority to part of the majority. 

As we study the African American and Hispanic/Latinx populations, we’ll get admixed data, sure, but it will then require us to think about admixture. Admixture is a part of life and we must embrace that.”

What inspired you to eventually channel your career towards population genetics?  

I discovered population genetics shortly after high school. My AP Biology teacher gave me a book upon graduation, The Genetics Basis of Evolutionary Change, by Richard C. Lewontin. It was a beat-up, old copy but I read it with pure fascination. “Wow, this is incredible,” I thought. I had enrolled in a 6-year BA/MD program at the University of Miami and started working in a research lab. One day, by sheer luck, I stumbled upon a lecture by a former post-doctoral fellow of Richard C. Lewontin who emphasized the power of understanding genetics, evolution, and what they can tell us about human traits. I went to many lectures after that, took countless biology classes, and came to the realization that my educational path needed some modifying. I thought to myself, “I don’t think I want to give up two years of school in replace of work. I’d much rather focus on school for the next four years and figure out what I want to do after then.” So, I decided to pull out of my program and transfer to Harvard, where eventually I had the opportunity to work directly with Richard C. Lewontin himself.

STANFORD, CA – SEPTEMBER 20: Population Geneticist Dr. Carlos Bustamante is photographed at the Stanford Medical Center in Stanford, CA for the MacArthur Foundation Awards. (Photo by Don Feria/Getty Images for The MacArthur Foundation Awards)

What a great introduction to science! How did this further influence your career in genetics?   

Between 1994 and 2001, I learned everything I could about population genetics and statistical genetics. When I applied to my MD/Ph.D. program, my goal of bringing complex disease genetics to medicine was shot down by so many people. They would tell me I was crazy and that it’d never work. “We don’t even have the human genome complete,” they would say. “You should really go study molecular biology and developmental biology.” In fact, even Lewontin said to me, “That’s a terrible idea. Theoretical population genetics is really hard and you’re likely never going to get a job.” It was all that I wanted to do, so I figured if it did not work out, I will drive a taxi or something.  

I finished my Ph.D. program in 2001, and fortunately for me, the human genome project was completed just three months before.  

I started teaching statistics at Cornell University after my Ph.D. and postdoc and worked with Andy Clark on a database of human genetic variations. I spent 3 years mining data and together, we wrote 7 Nature and Science papers off my dataset that ultimately set my career. I eventually was awarded tenure and made a Full Professor at Cornell University and gave me the opportunity to start a new Department from scratch as inaugural Chair of Biomedical Data Science, where we did a bunch of human-genome-like projects.  

Between 2004 – 2007, if there was a principal component plot that had multiple populations in it, odds are it came from Bustamante Labs

That could not have worked out any better for you – great timing. You were part of the 1000 Genomes Project. How was that experience?  

It was eventful. During the 1000 Genomes Project, Francisco M. De La Vega and I pushed to sequence the first Mexican genome and the first African American genome. The project concluded with 2,500 samples, but that was never the original design. The original design only included samples from Africa, Europe, and Asia. They never intended to have any samples from the Americas or South Asia, for several reasons. Because we understood the importance of the patterns of add mixture, we raised our hands and said, “No, this is wrong. You can’t exclude people. This is a missed opportunity.”  

Dealing with vulnerable populations and populations that do not wish to participate in biomedical research is a tough problem. You obviously want to respect and honor that. At the same time, if our number one goal is to enable medical and disease genetics at scale, then we don’t need a perfect population model, we need patient engagement. As we study the African American and Hispanic/Latinx populations, we’ll get admixed data, sure, but it will then require us to think about admixture. Admixture is a part of life and we must embrace that.  

The 1000 Genomes Project went from 1,200 samples to 2,500 samples, partly because a passionate group of us got together and said, “This is important, the data is telling us it’s important.” We made rational scientific arguments that ensured the medical genetics studies that we are powering are properly powered in these understudied populations.  

My whole motto for running my lab is, ‘Come in, build something cool, and take it with you.’ ”

As they say, never underestimate the power of passion. What are you working on now? 

Having spent some time at Cornell and Stanford and advising companies like Luna creating innovative technology for health discovery, my next passion project is to scale. We need to have a million genomes networked with clinical data across a wide range of diseases that will power a ton of discovery.  

During COVID, I spent some time at Stanford sequencing patients. My hypothesis from this experience is that through sequencing COVID-19 discard, you can build an incredible database. Nearly everyone has had a COVID-19 test or two and if we had access to that material and permission to sequence their genome, we could build the world’s greatest databases. And I’m particularly excited to focus on the Latin American population, because of its significant impact by COVID and its underrepresentation in research. 

You have worked on so many projects that have positively changed health discovery as we know it. Of your entire experience, what are you most proud of?  

The network of talented people who have trained and collaborated with me – these people I will stack against anyone. My former students and post-docs are now running the big biobanks at Mount Sinai they are playing major roles in 23andMe and Ancestry.com. It has been an embarrassment of riches, and I am so proud of them.  

My whole motto for running my lab is, “Come in, build something cool, and take it with you.” Now this network is passionate about coming together to work on a big mission, a mission to build the largest database of Hispanic/Latinx genomics and health data relevant to testing and eventually to pharma.  

Great motto and inspiring story you have experienced so far. Thank you for all your dedication.  

Genevieve Lopez
Head of Digital Engagement at Luna
gen@lunadna.com
(760) 218-8333

About Luna

Luna’s suite of tools and services connects communities with researchers to accelerate health discoveries. With participation from more than 180 countries and communities advancing causes including disease-specific, public health, environmental, and emerging interests, Luna empowers these collectives to gather a wide range of data – health records, lived experience, disease history, genomics, and more – for research.

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