Aug. 2, 2017 at 12:34 PM
Every human on earth is unique our genes are different, we eat different things, we live in different places. As a result, medical treatments tend to work differently on different people. Depending on your genes, a drug might cure your sickness or it might cause a side effect that makes you sicker.
In the past, many of humanitys individual variations were invisible to us, but today, new technology offers us a way to peer into each persons genome, allowing doctors to personalize treatments for each patient. This approach, called precision medicine, has been a major focus of research and investment in the last few years.
But precision medicine only works if scientists have studied people who are similar to you. If your genes are rare or unusual compared to those researchers have examined in the past, you could end up getting the wrong treatment. Since the vast majority of genetics studies are done on people of European ancestry, members of other racial groups may lose out on the benefits of precision medicine entirely. Those same groups already often receive worse health care in the United States than people of European descent get, and personalized medical treatment could make the gap in care larger.
Precision medicine is based on the idea that genes can be linked to diseases. To study this, scientists assemble a group of people, some with a disease and some without, and identify their genetic differences. If particular differences are common among the people who have the disease and absent from the people without it, then scientists can infer that those genetic patterns might be involved in the disease.
But each person has their own catalogue of genetic characteristics. Some are common in people of certain ancestral backgrounds and rare in those from other backgrounds. If scientists exclusively study individuals of one ethnic group, they may not know how to refine their treatments for a person from a different group.
A 2009 analysis of the studies that can link a genetic variant to a disease or trait showed that fully 96 percent of participants were of European descent. In a 2016 commentary in the journal Nature, Alice Popejoy and Stephanie Fullerton, respectively a graduate student and a professor at the University of Washington, showed that these studies had grown more diverse and people of European ancestry now account for 81 percent of research subjects. Things are getting better, and its still pretty darn slow, Fullerton said in an interview. And of the progress that has been made, much of it is attributable not to an increase in diversity in U.S. research but to studies conducted in Asian countries, which involve local participants.
Disparities in biomedical research exacerbate an existing gap in U.S. health care. African-Americans and Latinos are less likely to have health insurance and more likely to suffer from chronic diseases. Even controlling for wealth differences between populations, African-Americans receive worse health care.
The science underlying precision medicine threatens to make these disparities worse because it could leave any genetic differences that primarily affect nonwhite groups unstudied. Some genetic differences are prevalent in one population and rare in another. A prominent example is a gene called APOL1. Differences in this gene are common in people whose ancestors are from sub-Saharan Africa but rare in those of other backgrounds. Some of these variations increase the risk of developing kidney disease more than sevenfold, but they also seem to confer protection against African sleeping sickness. Knowing a patients APOL1 genetic makeup might be useful for guiding kidney disease treatment, and APOL1 is likely one of many genes that must be studied within a nonwhite population.
Its possible to solve the problem of underrepresentation. The National Institutes of Health fund a number of large-scale genetic research projects in the United States, and scientists there consider this a major issue. We are aware of this situation, and work is being funded to rectify the situation, said Charles Rotimi, an investigator at NIH. He pointed to initiatives like Human Heredity and Health in Africa and the Population Architecture using Genomics and Epidemiology Consortium. These projects are developing more diverse study populations to address the underrepresentation of people of non-European ancestries, in some cases going to African countries to collect genetic data. In the United States, individual investigators can also apply for smaller-scale NIH grants to study particular diseases.
Even when scientists make a conscious effort to recruit a diverse study population, they can run into hurdles. For very good reason, minority populations can be more skeptical and concerned about being involved in biomedical research, said professor Danielle Dick of Virginia Commonwealth University, who studies how genetics contribute to a persons risk of substance abuse. The good reason Dick referred to is a long history of biomedical researchers mistreating people of color, including in the Tuskegee trials and through the forced sterilization of Puerto Ricans. Dicks team and others have tried to address issues of underrepresentation by visiting various hospitals to recruit Hispanic or African-American study participants, providing educational materials about genetics research, arranging to collect samples when patients may be off work, and taking other measures to encourage participation.
But the imbalance in samples is so severe, and the rush to develop precision medicine is so swift, that the problem may not be solved before treatments are developed, and as a result, those treatments will likely predominantly help people of European ancestry. The time horizon for a lot of therapies is typically in the 10- to 15-year range, Fullerton said. Could we solve it in that time frame? Possibly. But genetic differences may already be causing disparities in treatment results between groups. Some genetic variants that are common to certain racial or ethnic groups can affect a patients tolerance for drugs, for example, so knowing about a patients genetic code can guide a physicians prescription. Doctors are observing these phenomena in the clinic already, said Nishadi Rajapakse, an NIH administrator at the National Institute on Minority Health and Health Disparities.
Clinical differences in health care are only likely to become more severe as precision medicine advances. New drugs are already targeting certain genetic differences, although none that would function primarily in one ethnic group and not in others. In the long run, people of European ancestry could benefit from ever more specialized treatments while people of color are left behind.
Read the original here:
Medicine Is Getting More Precise For White People - FiveThirtyEight
- IOM not webcast today. Why Not? - November 8th, 2009 [November 8th, 2009]
- National Academies skeptical at Best. - November 8th, 2009 [November 8th, 2009]
- Some Confusion Exists - November 8th, 2009 [November 8th, 2009]
- Why DTC Genomics IS Medicine. - November 8th, 2009 [November 8th, 2009]
- First Mari, Now Linda. Who's next? - November 8th, 2009 [November 8th, 2009]
- Is it true? - November 8th, 2009 [November 8th, 2009]
- Re-Reviewing the National Academies - November 8th, 2009 [November 8th, 2009]
- The problem with nonclinicians....... - November 8th, 2009 [November 8th, 2009]
- Crazy Night of Emails to Government - November 8th, 2009 [November 8th, 2009]
- Adrienne Carlson's Personalized Medicine. - November 8th, 2009 [November 8th, 2009]
- Tell Me, How do you feel now? Sherpa's RX - November 8th, 2009 [November 8th, 2009]
- This Just In. 23andMe to go to GPs. I love my readers!! - November 8th, 2009 [November 8th, 2009]
- Sorry so long away - November 8th, 2009 [November 8th, 2009]
- 2D6 Rears its ugly head..... - November 8th, 2009 [November 8th, 2009]
- Ok, Fine, Back to Plavix - November 8th, 2009 [November 8th, 2009]
- Kaiser a protoype for Collins' Aim - November 8th, 2009 [November 8th, 2009]
- A few months late to the party.... - November 8th, 2009 [November 8th, 2009]
- Stated Another Way....... - November 8th, 2009 [November 8th, 2009]
- Excuse Me? Harvard and Navigenics? WTF? - November 8th, 2009 [November 8th, 2009]
- Follow up to Yesterday's WTF? Harvard, Navi? and Pfizer??? - November 8th, 2009 [November 8th, 2009]
- Did you get your kit? Thanks Dr. Rob from MedCo - November 8th, 2009 [November 8th, 2009]
- Gluco...Wha? Parkinson's Disease and Glucocerebrosidase mutations. - November 8th, 2009 [November 8th, 2009]
- Away and now back, What did I miss???? 23andme layoffs? Selling Genomes for cheap up next! - November 8th, 2009 [November 8th, 2009]
- Change IS Needed. I agree with William, sometimes. - November 8th, 2009 [November 8th, 2009]
- Good Enough Science? Apparently so at 23andme - November 8th, 2009 [November 8th, 2009]
- Long QT Syndrome, location matters - December 13th, 2009 [December 13th, 2009]
- Congratulations Generation Health. Nice pick up! - December 13th, 2009 [December 13th, 2009]
- An argument 23andSerge can't win...23andme but not medicine - December 13th, 2009 [December 13th, 2009]
- Stop. Breathe. Repeat. An analysis of the direction of DTC Genomics Field. - December 13th, 2009 [December 13th, 2009]
- Hey DTC genomics, Stay Private, Stay Alive, Go Public and Die - December 13th, 2009 [December 13th, 2009]
- You can't have it both way. Either scared your genome is sold off or not. - December 13th, 2009 [December 13th, 2009]
- 15 Days Away Gives Time for Perspective. - December 13th, 2009 [December 13th, 2009]
- What about the SACGHS registry? Another missed opportunity? - December 13th, 2009 [December 13th, 2009]
- AJHG is in and my Favorite Muin is in it! But He Is NOT the Father! - December 13th, 2009 [December 13th, 2009]
- Navigenics for 23andMe prices? - December 18th, 2009 [December 18th, 2009]
- Lp(a) Maybe there's something there that wasn't there before? - December 24th, 2009 [December 24th, 2009]
- Another Year, Another Bankruptcy - December 31st, 2009 [December 31st, 2009]
- 5 Technologies going bye bye in this decade? - January 6th, 2010 [January 6th, 2010]
- Hackers, HITECH and HIPAA in DTC Genomics, Oh My! - January 7th, 2010 [January 7th, 2010]
- Personal Genomics Flop.....big Belly Flop! - January 8th, 2010 [January 8th, 2010]
- Gotta Love It. Even the daycare....... - January 11th, 2010 [January 11th, 2010]
- Congratulations Navigenics. You ARE a clinical lab! Uh-Oh... - January 12th, 2010 [January 12th, 2010]
- CETP, Jewish Centenarians and Alzheimers - January 14th, 2010 [January 14th, 2010]
- Enter the "Not" DTC Genomics Rep - January 17th, 2010 [January 17th, 2010]
- Why Dr. Vanier's Navigenics appointment is good for PM - January 22nd, 2010 [January 22nd, 2010]
- Holy Crap! MedCo Follows in CVS footsteps - February 3rd, 2010 [February 3rd, 2010]
- FDA, Warfarin, still not as sexy to me. - February 5th, 2010 [February 5th, 2010]
- Hype, Hype, Hype from a single study. - February 11th, 2010 [February 11th, 2010]
- I love my readers, even Renata M! - February 17th, 2010 [February 17th, 2010]
- How can insurers use DTC genomics to profile? - February 17th, 2010 [February 17th, 2010]
- 9p21.....ahem. Paynter et.al. Smackdown. Again. - February 18th, 2010 [February 18th, 2010]
- Hey! It's Pete Hulick! Are you Going to GET? - February 19th, 2010 [February 19th, 2010]
- I was wrong......AHEM - February 28th, 2010 [February 28th, 2010]
- G2C2, finally a tool for genomic education! - March 2nd, 2010 [March 2nd, 2010]
- Just 4 million? What 23andMe is worth. - March 5th, 2010 [March 5th, 2010]
- What a difference a year makes - March 9th, 2010 [March 9th, 2010]
- ........DTC Genomic Medicine? - March 12th, 2010 [March 12th, 2010]
- The FDA, 2c19 and the ACC - March 13th, 2010 [March 13th, 2010]
- The problem with Comparative Whole Genomics...... - March 13th, 2010 [March 13th, 2010]
- BRCA testing by 23andME is the same as Myriad Genetics. - March 15th, 2010 [March 15th, 2010]
- The Argument Against DTC Genomics Marketing and such - March 16th, 2010 [March 16th, 2010]
- A moment of Clarity. Some DTCG is not bad. - March 18th, 2010 [March 18th, 2010]
- SNPs for breast cancer risk? It Depends. - March 18th, 2010 [March 18th, 2010]
- How can MDVIP use Navigenics Test for Medicine? - March 18th, 2010 [March 18th, 2010]
- Why did P&G invest in Navigenics? - March 23rd, 2010 [March 23rd, 2010]
- PGx in DTCG? Doesn't stand up to Useful testing. - March 25th, 2010 [March 25th, 2010]
- End of Gene Patents? - March 29th, 2010 [March 29th, 2010]
- Sherpa Accepting Chief Medical Officership - April 3rd, 2010 [April 3rd, 2010]
- The Rumors of My Death........ - April 20th, 2010 [April 20th, 2010]
- Happy DNA Day! - April 25th, 2010 [April 25th, 2010]
- 99 USD, DNA day and patient letters - April 25th, 2010 [April 25th, 2010]
- 2C19, Navigenics and Clinical Reality. - May 1st, 2010 [May 1st, 2010]
- Coriell Personalized Medicine Collaborative rising - May 7th, 2010 [May 7th, 2010]
- Personal Genomes in Clinical Care. Quake paper is a waste! - May 11th, 2010 [May 11th, 2010]
- Personal Genomes in Clinical Care. Quake paper Falls Short! - May 13th, 2010 [May 13th, 2010]
- Last post edited by Drew - May 13th, 2010 [May 13th, 2010]
- GateKeeper? FCUK U! - May 13th, 2010 [May 13th, 2010]
- GateKeeper? F! U! - May 15th, 2010 [May 15th, 2010]
- Potential of genomic medicine, LOST - May 19th, 2010 [May 19th, 2010]
- How Bad Can a House Investigation be for DTC Genomics? - May 20th, 2010 [May 20th, 2010]