• Thu. Aug 11th, 2022

UW expert on the impact of “genetic ancestry” on responses to medical treatments

Different breeds have been found to respond differently to certain medical treatments, in part depending on an individual’s genetic background. These genetic health risks are being studied by Dr. Timothy Thornton, professor, associate chair of education and director of the graduate program in the Department of Biostatistics at the University of Washington School of Public Health.

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Essentially, Dr Thornton explains that the same genetics behind the breed can also determine how someone may respond to certain medical treatments.

“We are finding that not only are we seeing differences in many clinical outcomes based on race or ethnicity, but there are also a number of examples where we are seeing differences in how individuals respond to treatment based on of race, ”he said. noted.

“There are known genetic risk factors for a number of diseases. We’re still in the early days, really, of identifying genetic risk factors, ”said Dr Thornton. “The problem is that the majority of the risk factors that have been identified have been identified in samples from the European population or samples from the population of European descent. And so many risk variants that have been identified in Europeans, often they do not transfer or translate into other populations. “

A good example of this, says Thornton, is the polygenic risk score for breast cancer. There are known breast cancer risk genes, he explains, but these scores, based on an individual’s genetic profile, are about a third less predictive in black women than in women of European descent. .

“So even for these genes that we know are involved in a variety of different health outcomes, a lot of these genes were discovered in Europeans, and they don’t translate, or the risks aren’t the same. when you apply to other non-Europeans. populations, ”he said.

“Not only that, even in treatment,” he continued. “So, for example, there are clinical algorithms to predict the amount of warfarin dose, for example, by looking at anticoagulation. Warfarin, in fact, is a treatment used to prevent the blood from clotting or clotting. And one study found that the algorithm that was used was twice as accurate in populations of European descent compared to populations of African descent. This can have serious consequences for an individual’s health, especially if you are not of European descent.

Dr. Thornton believes that medical practices should be honest about what they know and what they don’t know.

“There are some algorithms, for example, where we can predict risk fairly well across race or ethnic groups,” he said. “But there are other algorithms, which may work well in European population samples that may not work well in other population samples, and so we need to be clear about that.”

“But, ideally, we have to go beyond including individuals in these racial groups because we are not a monolithic group,” he added. “For example, African Americans are very diverse. You have African Americans who are up to 90% African descent, while other African Americans are only 10% African descent. So ideally, we can get to the point where not only do we have racial groups, but we also have information about their genetic ancestry. “

This is the point that the medical community is trying to reach, says Thornton, where proportional ancestry or genetic ancestry can be incorporated into clinical algorithms.

“We’re not there yet because most clinicians don’t have this information about their study subjects,” he admitted. “But we are working towards that now, by being able to identify genetic risk factors that can hopefully help us improve health outcomes in various populations taking into account their diverse genetic origins.”

Hopefully, Thornton says, clinical algorithms and treatment guidelines can include genetic ancestry in the future, “in addition to or instead of race.”

“As I mentioned earlier, we haven’t yet reached a point where ancestry can be readily available or where clinicians actually know what to do with this data,” he said.

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Meanwhile, thanks to companies like Ancestry.com and 23 and Me, Thornton pointed out that there are hundreds of thousands of individuals who already have all of their genomic information.

“And they have information about their proportional ancestry, even in Europe, in Africa as well. So a lot of citizens in the United States already have this information, ”Thornton said. “They have their whole genome, and they also have the distribution of their ancestors, where they come from.”

“The next step, potentially, would be to be able to use this information to integrate it into clinical algorithms to improve treatments, therapies and risks as well?” “

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