That 0.01 percent may seem small, but out of 3 billion, that's a lot. We're interested in differences among individuals. If we line up all of our genomes, we are going to be more than 99.9 percent identical. The human genome has 3 billion base pairs. We also have data on genetic markers for more than 13,000 individuals and more than 25 million genetic variants. People from Cuba were sampled in Miami, Dominicans in New York, etc. We're looking at six different Latino background groups who have been sampled based upon their neighborhood. We have a variety of clinical measurements and outcomes as well as other information ranging from what people are eating from food questionnaires to nationality of origin of grandparents.
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How much information have you collected so far? There are a broad range of health outcomes we're looking at, from diabetes and cancer to sleep apnea and adult hearing loss. Timothy and Almaz Thornton with Matthew, 5, Jacob, 3, and Gabrielle, 1. That's why statistical methods are very important to quantitatively discern the signal from the noise. If you don't account for these differences of heterogeneity, then you could pick up signals that aren't really due to genetics. Even within the groups, there can be different ancestries. A lot has to do with culture, which includes diet and things of that nature. There are some complex factors going on here with health. Puerto Ricans, for example, have the highest rate of morbidity and mortality for asthma, while Mexicans have the lowest. The ancestries of Puerto Ricans can be quite different from the Mexicans who can be quite different from the Cubans.Īnd that plays out in certain health outcomes? Their genome consists of a mosaic of ancestry – African, European, Native American. Due to historical events – slave trade, colonization – these groups were brought together within the last few hundred years. That means they have ancestry from different continents that were previously isolated. These populations are not like typical European populations, where everyone is relatively homogeneous. But very few of these studies have been focused on underrepresented minority populations, including African-Americans and Hispanics, despite these populations bearing a disproportionate burden of diseases. The vast majority have been in populations of European descent. To date, there have been over 1,500 large-scale genomic studies. We're identifying genetic risk factors as part of the national Hispanic Community Health Study/Study of Latinos, which has been going on for a number of years.
I'm one of the investigators for the new Genetic Analysis Center in the Department of Biostatistics. Tell us about your latest project on Hispanics.
I just love genetics and I can't think of a greater use of statistics than to improve health. A lot of my work recently has been focused on identifying some of the unique genetic risk factors in these populations. When I took a course in statistics, it was the first time I thought, 'You know what, this could really make a difference.' I have been struck by health disparities in different minority groups. I always enjoyed math and loved the challenge of it as an undergrad, but I didn't really see a lot of real-world, practical applications. Now he's helping unlock genetic health risks for Hispanics as part of a new center within our Department of Biostatistics. Timothy Thornton loved math, but knew statistics might have more practical benefits.
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