The field of pharmacogenomics — using a patient’s genome to predict how well they will respond to medication — is a hot area of medicine today. But, almost all data used in these predictions comes from people of European decent. Minoli Perera, PharmD, PhD, wants to change that. She is a pioneer in the area of pharmacogenomics in African-Americans and has some new discoveries to share.
“Our genomics are based in Africa, and we’re really all African in our cores. And to really know about genomics, is really to know about the genomics of Africa.”— Minoli Perera, Pharm D, PhD Associate Professor of Pharmacology Principal Investigator for ACCOuNT (the African-American Cardiovascular Pharmacogenetics Consortium).
Africans are the oldest population on earth and that means people with African ancestry have more genetic variation than other ancestries, says Minoli Perera, PharmD, PhD. Yet, 96 percent of all genome-wide studies are in people of European ancestry.
Minoli Perera: “If you always look at European populations, you’re only looking at a small subset of that variation in the genome. There’s a bigger landscape to see in the African genome. I describe it a little bit like a bowl full of jelly beans … as we left Africa, each one of these little groups that left just kind of took a handful of those colorful jelly beans. So they have some of the things we find in Africa, but it’s never the full compendium of jelly beans. It’s always a subset.
As we went to Europe and Asia, we added our own colors into it, if you keep the analogy of jelly beans, but it was never what will you can find in Africa. And that’s the problem is that we continue to look at Europeans but there’s all the unique genetic variants in African-Americans that will never discover in European populations.”
Only looking at a small subset of the population can also create problems with the predictive tests we use to detect genetic predispositions.
Minoli Perera: “We know a lot about the genomes of Europeans. In one of my earlier papers we talked about a clotting disease where we actually have a clinically available genetic test where if you’re somebody who has deep vein leg clots, maybe a physician would suspect that you have a genetic predisposition and he could order right now a genetic test for you, and what I don’t think physicians think about is these two tests, one is called a Factor V Leiden, the other is a prothrombin genetic variant, they’re extremely rare in African-Americans, but African-American suffer from clotting in deep veins at a higher, a much higher proportion than Europeans.
So, as an example, Serena Williams recently talked about that she had deep vein thrombosis, and she’s one of the best-trained athletes in the world and probably sees the best doctors in the world. But if they were to do that genetic test on her, it would come back as normal, what we think of it as negative, but it does not mean she does not carry genetic variants that are from her African-American background that would predispose her to that.”
In a recent Northwestern Medicine study, published in the Journal of the American Medical Association, Perera and her team discovered a group of gene mutations seen only in African-Americans and people of African-Americans ancestry that may contribute to an increased risk of serious bleeding while taking warfarin, a common anticoagulant drug.
Minoli Perera: “We saw that if you had the genetic variant, (we did this in an in vitro cell culture), you increase the expression of EPHA7, and that’s everything that’s in the JAMA paper, it is the explanation for that. Now, I think the big question is what does that mean? And I think that’s a much more complicated question … one hypothesis we have is lots of people may carry this variant. It’s not particularly rare for African-Americans.
So, if you’re African-American you could carry it and live a completely normal life … it’s kind of like, you’re standing at the edge of the cliff and then the drug just pushes you right over, right? So, you might be perfectly fine until you’re on the drug.”
Read more about the study, herewhich was published in JAMA.
Minoli Perera in our opinion is an example of the potential of real life breakthroughs that can happen when we allow women and minorities to become educated and integrated into the STEM fields. We gain understanding from different perspectives that allow for better understandings and progress for us all.
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