Genomics Has a Diversity Problem

By Adem Lewis / in , , , , , , , , , , , , , , , , , /

Thanks to Skillshare for supporting this episode
of SciShow. [ INTRO ] There’s a lot of buzz surrounding precision
medicine, which is the idea that we can tailor the way
we treat disease to every individual person’s unique circumstances. And though it’s a futuristic idea, it’s
already helping us to diagnose and treat some diseases, like certain types of cancer. The dream is that someday, the information
in our genomes — the sum total of our DNA — could transform healthcare as we know it for
everyone. But there are limitations to overcome before
precision medicine can reach its potential. One major hurdle is the lack of diversity
in human genomic databases. The vast majority of human genetic studies
we’ve carried out since the 1990s were done on people of European ancestry. It’s a massive oversight that’s already
leading to health disparities, and it’s going to require some ambitious
fixes. But first, how did this happen? It’s pretty bad science to base our understanding
of the human genome on white-centric data, considering how many of the humans on this
planet aren’t white. But underrepresentation and exploitation of
minorities in medical research is nothing new. In 1996, the National Institutes of Health
introduced a policy to prioritize including more women and underrepresented minorities
in clinical research. But since then, less than 2% of over 10,000
cancer studies funded by the NIH have included enough minorities to meet their own guidelines. There’s also the totally justified lack
of trust from communities of color when it comes to research participation because of
repeated ethics violations. The most infamous case is the Tuskegee Syphilis
Study that began in nineteen thirty-two, in which researchers recruited hundreds of
African-American subjects with syphilis, and then… watched, as the deadly disease
progressed untreated. Even /after/ they knew that penicillin could
cure syphilis. President Clinton apologized for the decades-long
ethics breach in nineteen ninety-seven, but that doesn’t mean everything is fine now. For instance, a 2018 analysis revealed that
African-Americans are disproportionately enrolled in clinical
trials that don’t require patients to give individual consent. This exception to consent rules exists for
people who are in too life-threatening of a situation to sign paperwork, but the disparity is still a problem. There’s also just plain structural inequality
throughout society that influences how medical research is carried out, l eading to undeniable healthcare gaps between
white people and, well, everyone else. How does this apply to genetics research and
precision medicine? The Human Genome Project published the first
human genome in 2003. At the time, sequencing a single genome was
a landmark accomplishment. Since then, sequencing technologies have gotten
better, faster, and way cheaper, leading to mountains of genetic data rivaling
the amount of data generated by YouTube, Twitter, and even the entire field of astronomy. And most of that data concerns populations
of European ancestry. Which has led to a sort of snowball effect,
as researchers tend to prefer to study the most well-characterized groups, and go on to do more studies in white people. One major problem is with the reference genome
— used by researchers worldwide as, well, a
reference. A 2018 study on genetic data from over 900
individuals of African descent found that over 10 % of their DNA wasn’t represented
in the reference genome, most of which is derived from a small number
of people. Now, it’s /really/ important to note that
none of this is to say that people of different races or ethnicities have dramatically different
DNA. Other research has found that any given single
person differs from the reference genome by well under one percent of their DNA. It’s just that different individuals have
different differences — and that adds up. The lack of diversity in genetic databases
has already led to disparities in translating precision medicine research into diagnoses
and clinical care. For example, a 2016 analysis found that African-Americans
have been disproportionately misdiagnosed with a heart condition known as hypertrophic
cardiomyopathy. A gene variant that’s more common in black
populations had incorrectly been identified as dangerous. And the researchers suggested that including
more African-Americans as controls in genetic studies could have prevented that mistake. Researchers have also raised concerns that
basing tests for genetic diseases on our current body of knowledge leaves communities of color
by the wayside. For example, most of what we know about the
genetics of asthma comes from studies of European populations. But studies have found those gene variants
are found less often in many African-American and Puerto Rican individuals — even though their incidence of asthma is higher
than in white people. If you were to design a genetic test based
on the presence or absence of those variants, you’d have something only white people can
actually use. Drug safety and dosage also come into play. Genetics can affect how well a drug works,
the ideal dose, and the likelihood of adverse reactions for each individual. For example, warfarin is widely used as a
blood thinner. And variants in three genes can help doctors
understand how patients will respond to it — and help them determine the right dose to
avoid dangerous side effects. Except that’s only the case in European
populations. It doesn’t explain how people of other ethnicities
will metabolize the drug. Which means they’re at a greater risk of
an adverse reaction. This lack of diversity isn’t going to fix
itself, but there are proposed solutions, and some are already in the works. The National Institutes of Health launched
the All of Us research program in 2015 to collect genetic and health data from more
than a million people living in the U.S., with a focus on ensuring a diverse pool of
subjects. Many non-European countries have already launched
population-specific genome projects to produce reference genomes that are more
relevant to those populations. Some experts have also suggested that scientific
journals either require researchers to draw on diverse sample populations, or provide a darn good reason why not, as
a requirement to publish. Researchers will also need to reclassify genomic
variants — like the heart disease genes — based on data from diverse populations. There’s a newly revived push to implement
culturally respectful strategies for recruiting underrepresented groups in research, with local ethics committees in the communities
where research takes place playing a key role. These solutions have to happen within the
larger context of tackling systemic racial disparities throughout society. For instance, not only does the scientific
community need more diverse data, it also needs to educate and retain more researchers
of color, since diverse perspectives lead to more diversity
in research design and participation. Tackling genomics’ diversity problem is
a massive undertaking, but it’s going to need to happen if precision
medicine is going to change healthcare for the better for all people. At its best, science embraces past mistakes
to learn from them and do better in the future. And that’s also a mark of a good leader
— according to this leadership class you can
take on Skillshare. In her course Leadership Today, Steph Korey
teaches you how to use coaching and questions to grow your business. And that includes consistent feedback, asking
questions of your team, and embracing your mistakes. There are over 25,000 courses on Skillshare,
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in this community of more than 7 million creators. And an annual subscription is under ten bucks
a month. Right now, the first 500 SciShow subscribers
to use the link in the description will get a 2 month free trial. So check it out, and see what you can learn! [ OUTRO ]

100 thoughts on “Genomics Has a Diversity Problem

  1. Skillshare is offering SciShow viewers two months of unlimited access to Skillshare for free! Try it here:

  2. "Totally justified lack of trust"

    Plenty of bad things happened to white people in the distant past too.

    Fortunately they have the intelligence to get over these things and understand science.

  3. The disgusting bigots of SciShow are at it again. Race is a social construct! There's only one race: the human race.

  4. Nothing is stopping black people from becoming scientists or doctors. Nothing is stopping Africa from conducting genetic research. Ready set go.

  5. Academics never take responsibility for who they teach. One in five Americans insists the sun revolves around the earth, while academics complain nobody believes in Darwinism, and the corporations and governments they work for are destroying the planet.

  6. You lack an explanation for why both the statement that the difference between individual genomes usually caps at 1% only and the statement that the use of a European genome is less effective for those of non-european descent medically do not contradict each other in the context which they are used. This is something that should not be skipped over.

  7. Some statements in this video seem to have a diversity bias- the thought that diversity in everything is automatically good. So what if there's a genetic test that's only helpful to caucasians? Once the efforts start bearing fruit, I'm sure we'll find tests that are only helpful to africans, asians, or any other specific race (probably have already), unless scientists are forced to consider humanity as just one homogeneous group as prerequisite to getting papers published. Trying to find a test that works equally well for everyone will mean that it doesn't work as well as it could for some groups of people , which is a situation many advocates of diversity already decry.

  8. What, different races have different genes manefesting in different immune systems and drug digestion? What a shock! bUt ThAt'S rAcIsT

  9. I don't know what everyone is worried about. Race is a social contract, so it doesn't really make a difference.

  10. In the future, AI will composite everyone's DNA, globally, and model an avatar of that DNA at any age with which anyone can interact.

  11. That gets complicated. To get the best data, researchers would have to go to Africa where the real diversity is.

  12. Hold back science for diversity now too? Lol

    Don't get me wrong, something needs to be done, it's a serious problem, but that is just the dumbest possible answer one could give.

  13. Considering we test not most but ALL our meds on 🐁 and 🐀 I don’t think this is s real issue.

  14. I'm often wondering how many of these self-proclaimed science lovers in the comment section, who have strong opinions on what science is and what shouldn't matter in science (like diversity), actually ever studied science beyond some advanced high school chemistry class. Does anyone of these people actually have a scientific degree? (No, YouTube doesn't count as a university)

  15. Omg, western science is mostly used on westerners.
    Wow, great insight.
    Funny how genomes don't care about your views on race being a social construct.

  16. News flash: countries with majority white populations have more data on white people.

    Seriously, people. That and the economic disparity leftover from the time when racism was acceptable is more than enough to explain this.

  17. Although I agree with the general message of this video, that being, research needs to be done equally on all races, I find the fact that it focused on black people being underrepresented disgusting. Equality isn't pro black, it's pro everyone. You never even mentioned any race other than white, black, and one tiny reference to puerto ricans. How about asians, indians, middle easterns peoples, native Americans, so on and so forth. Pro black isn't pro equally, even if they're underrepresented, the journey is just as important as the destination.

  18. A major problem in this is that it will require us to acknowledge that the chances of occurrence of a specific gene differ between races, but unfortunately, some will use this as an excuse to show one race as superior to other. This is the primary hurdle for medical science. Chances of a disease or disorder differ between different races, e.g east Asians are more likely to have lactose intolerance than others, africans have on an average higher bone density and muscle mass and better eyesight than others and Europeans have better chances of being immune to HIV than others(due to black death), etc.

  19. Always about genetics until you want to know someones sex. Then it dont matter and genders as construct. ( even when saying sex.)

  20. I think it's hilarious how we all agree this is a problem, but you then go on to say there isn't really genetic differences between the races. Of course there is, that's why this is a problem in the first place, and denying it does no one any favors. The fear of offending people is reaching absolute paranoia at this point

  21. Although I don't like it when people (usually liberals) scream diversity this diversity that, I'll have to agree with this video.

  22. Yikes, I wasn't expecting to see another social justice sermon from this channel after the last one and how badly that went…

  23. Diversity of skin color does not indicate a diversity of thought, or a diversity of genes. Yes we need more data from more diverse populations to get the most accurate information, and then apply that knowledge accurately, but that doesn't mean limited data and information is bad, just that more is better.

  24. Subjectivity has no place in science! Quit it scishow! I don't care how woke Hank is stop bringing it into science

  25. The problem we are facing today is, that if somebody insists on conductiong medical research specialised only for one race, that person is considered racist. It is so ignorant to think there are no differences between black, white, brown and yellow people just because it is popular to act like everybody is equal.

  26. Biggest major hurdle, is that so-called individualised med was never meant to treat a diversity of people, but was rather going to be relevant to so-called "certain demographics", ie racist med, a discredited field reborn. I am so happy people are turning this on its head to open it up to a truly diverse and specific understanding of individual differences which are actually generally significantly greater between any two humans than between any two groups of humans.

  27. fyi, 23andme is now doing a racist gentrifying program with airbnb to visit your fake heritage around the world.

  28. The "father of Gynecology" J. Marion Simms advanced the health of white women by hacking away at enslaved black women. Cancer research for white people was advanced by the theft of Henrietta Lacks' cells. And then we also have the Tuskegee experiments. When it came to treating white people, white scientists had no problem subjecting black bodies to torture and neglect but now when it comes to supporting black wellness the excuse is "oh most of the research is done in western countries where most people are white!" Girl bye.

  29. SciShow's suggested options:

    A. Stop politicizing science with identity politics
    B. Be forthright about your liberal bias
    C. Be inclusive to conservative views
    D. Join the rational balanced folk in the center
    E. Character attack me with an ad hominem

  30. I’m African-American, and many in the Black community are still incredibly distrustful of medical research, but the lack of diversity is still a major issue due to those small genetic differences often playing a major role on health.

  31. I guess Africa needs to step up and do genome research for blacks since the white folks aren't doing it right. Oh, wait.

  32. Minorities? You are talking about the global population. The research was done on minorities from a global perspective. Also, why wasn't this research done in Nairobi, or Beijing? Kudos to the people who did this research on a minority population in the first place, especially considering nobody else did apparently.

  33. UMMMM….HOW ABOUT FEMALES??? Since we "women folk" are left out of the loop in basically ever aspect of research & many other different things as well!!! Get more women into research!!!

  34. But ain't there "no races" and "no differences between whites and blacks" whatsoever? Hahahahahahahahaha.
    What happened to your ideology ;)?

  35. Maybe it's hard to find minorities for clinical studies because… there are fewer minorities than non-minorities?

  36. Well, look at it this way- You see a package at the store that offers you information on your ancestry or how to keep healthy. (cool) You find out that not only do you have to pay them a chunk of change to disclose this information, but then they will turn around and sell that information to whatever interested parties they want, who are also unknown to you and without getting consent from you about who buys it. They are making money off both ends and that information could even be potentially used to harm or kill you if misused. That overshadows the positive science possibilities. There are no legal protections on the books to my knowledge, so it feels like you are paying someone hundreds of dollars to exploit you.

  37. Please, stick to the cientific facts. Read the comments, take a look at the ratings, and don't go political.

  38. unsubscribed due to racisms, sexism, transphobia nagging over each video. literally, today i watched recent 4-5 videos and found that this channel isnt giving knowledge that it used to give. I think same thing is happening on crash course cannel, too bad, crash course was my favourite.

  39. So science is now racist because "MUH OPPRESSIONS"? I genuinely hoped your channel wouldn't succumb to this progressivism disease……..

  40. Please stop singling out white people as though we’re all just born into wealth and privilege.
    (Some are/some are not.)
    Growing up with a single parent next to a drug house in a bad community can happen just the same in a trailer park as in the inner city.
    No hate but, we all have problematic lives that it takes personal effort and care to fix.
    Guess what I’m saying is please make the effort to better whatever community your a part of to prevent future people to have to live as you or your parents have.

  41. Stop virtual signaling SciShow!
    Let's be real most studies are based on white people because most races live in shithole countries that don't give a damn about science. Let alone their people.

  42. Psychology has a bigger diversity problems focus on that instead. Besides science says that race is just a social construct. So you just have to educate medicine and genes so they stop being bigoted.

  43. I love how you admit that white people paid for and performed most of the studies, but give them grief for not paying for and performing those studies on everybody in the world equally, but say nothing against all those other races that chose not to.

  44. Has this been an "oversight" or is it indicative that whites are more likely to volunteer to be test subjects for medical research?

  45. This isn't racist, lmao. It's just saying we need to expand our sample size to take account of other races, making our research more accurate.

  46. Why am I receiving a notification for a video that's been out for a week, on a channel I'm not subscribed to?
    * insert confused Jackie Chan *

  47. Identity science is one thing, I've got no problem collecting all the datas, but identity politics is another: when you treat the skin color of a researcher like it matters, you're not helping anybody.

  48. I came in expecting the normal REEEEEEE but was kinda surprised.

    If gynomes can cause such drastically different effects from different types of medications… why isn't more research being done?

    I'm not fully educated on whether skin pigmentation is honestly that important when it comes to saving lives, but how your base DNA can cause issues or conflict with different medications, then there's an obvious need for a solution. The real question being… why though? What makes the gynome inhospitable to these meds? It's very curious and who knows! Maybe we'll find something new about ourselves in the process!

  49. I hate the phrase culturally sensitive ethics. I remember a local study some years ago that wanted to take a bunch of genetic samples to help figure out all of the local migrations over time. The local elders told the community not to participate in the study, because they had their own oral tradition describing where they came from, and the scientists were going to contradict that.

  50. White people discovered DNA, and lead the way in every area of this research. We deserve the rewards you entitled idiots.

  51. Yay identity politics! Of course a white person couldn't possibly think like a black person. What matters is the color of the skin

  52. I say we use guns to force researchers to diversify the ethnicity of their studies. We can also use those guns to force people of color to give up their blood for the research.
    In all seriousness, if the governmental organization funding this research would just follow their own guidelines there wouldn't be a problem. Imagine that fantasy though. A government organization that follows their own guidelines.

  53. Does being mixed race add another issue to diagnosis and finding a working cure? Are mixed race people more likely to react like one race over another or a mix of both when doing tests on them?

  54. how can 10 percent of a genome not be on the reference genome if we only differ in dna from GORILLAS by about 2 percent?

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