Dr. OSSORIO: Well, I think I wouldn’t entirely agree. And in fact, even in that answer I felt like there was some ambiguity because Esteban, on the one hand, said, well, certain alleles or certain gene variants are African-specific, for instance. But then in the next breath said, well, yes, but of course this same allele is found and the same disease is found in people of the Mediterranean, also in some people from India, people from Greece. Also some portions of Greece have very high rates of sickle cell, for instance.
So I think we have to be careful here in talking about a gene variant as being specific to some population or another. There are also parts of Africa where sickle cell alleles are very, very rare. And likewise, cystic fibrosis, although many doctors think of it as a quote, unquote, “white disease,” is actually found in all populations, not as frequently as it’s found among people of Northern European descent, but it is found among all populations.
And here in Wisconsin, where we do neo-natal screening for cystic fibrosis, the people who seemed to have benefited the most from that are African-American kids who otherwise often would not be picked up so early by their pediatrician and diagnosed with cystic fibrosis, perhaps in part because pediatricians get this idea that cystic fibrosis is a white disease.
So one of the problems with this idea of using race to guide diagnoses is that there are probabilistic events, it’s probably the case that, you know, certain symptoms could be sickle cell in an African-American more likely than they would be in somebody of other ancestries, but not always the case. And it’s very hard to sort of translate the probabilistic information into good, clinically useful diagnostic information. But I think…
FLATOW: Let me get an answer from Esteban.
Dr. BURCHARD: Sure. So that - Dr. Ossorio’s completely right. But what the subtlety here is that I said it’s an integrated process, so we try to use every tool in our tool box to make a clinical decision. So it’s more likely that if a person has symptoms that are consistent with sickle cell, that it’s likely that they’d be African-American, less likely to be Caucasian.
That is not the only clue that we will rely on. We would rely on blood tests and so forth. Now, until we get to the point where we’re genetically testing everybody, we have to use these clues to help us make a clinical decision. And it’s very clear that there are genetic risk factors that are population specific, and the FDA, the Food and Drug Administration, is acting on that.
So for example, one of the most prominent ones is the recent treatments for epilepsies that we know that there are genetic mutations that are specific to Asian populations. And in fact there’s an FDA black box warning, if you’re going to get medication for epilepsy and you’re Asian, you need to be genetically tested to see whether not you have this particular mutation.
FLATOW: All right. Let me interrupt and say that this is SCIENCE FRIDAY from NPR News. And so the…
Dr. GOODMAN: So the one - the last thing that I wanted to say about the sickle cell disease or cystic fibrosis, where Dr. Pilar Ossorio mentioned that African-Americans are benefiting - what this really reflects is that today, 2010, we are looking at a cross section of time of how we view race. With an increased appreciation of interracial marriages, what we call admixture, we’re seeing that more European genes are coming into the African-American population to highlight Dr. Ossorio’s example.
And so, yes, she’s right that in Wisconsin, the population that benefit the most from cystic fibrosis testing were African-Americans, is because they are part European, so to speak. And therefore, as those genes come in to the African-American population, we are going to see genes that are more prevalent in European populations popping up in the African-American population.
And that is the beauty of our changing population. We can leverage the mixture in these populations to scientific advantage, particularly recently mixed populations - African-Americans, Latino Americans, Filipino Americans, and what we know about race today in 2010 is not going to be same what we know about race in 100 years from now. It’s a dynamic process.
FLATOW: Dr. Ossorio, did you want to jump in there?
Dr. OSSORIO: Oh, well, sure. I - so I think part of what happens is that when scientists say something like a gene is - or an allele, a version of a gene is specific to a certain racial group of people, sort of non-experts might think that that means that gene just isn’t present in anybody else in any other racial group, and that it might - people might infer that, well, it’s always present in people, say, of Asian ancestry, if we say a gene is - if someone says a gene is specific for that group. That’s not really what scientists mean. So it means that that version of a gene may or may not be in an Asian person. And in fact, it maybe in people of other races exactly because - of course races aren’t really separate.