Posting in Science
The most interesting genetic findings from 2010, according to genetics testing company 23andMe.
Well...it might not tell you how long you will live or if you will certainly develop a disease, but spitting out some saliva in hopes of learning some genetic information can offer some clues into your personal health - and even reveal some genetic findings that end up as real scientific research.
That's according to a roundup by genetic testing outfit 23andMe, which is based on 2010 genetic data from its customers and information taken from existing scientific research.
This is how their DNA service works: customers send in spit, 23andMe sends the spit to a lab to sequence the genome to look for mutations and then makes sense of all the data and then provides the customers with a personal readout of their DNA.
Think about it as Facebook for your genes: when new studies are published that match your DNA, you get an update in your "personal" Health and Traits report. DNA testing reveals mutations called single nucleotide polymorphisms (SNPs, or common genetic variants).
So here are 23andMe's top 10 genetic findings of 2010:
- Body shape. Does your body look more like an apple or a pear? The good news: Pears have it better. The bad news: People who are apple-shaped (with fat around their middle area) have a greater risk of developing heart disease and type 2 diabetes. And genetics plays a big role in body fat distribution, especially for women.
- Childhood asthma. In the future, new treatments for asthma might help seven million children suffering from the childhood disease breath a little easier. In two separate studies, researchers found genetic variants associated with the risk for childhood asthma.
- Rheumatoid arthritis. This common autoimmune disease is caused by genetic and environmental factors, but a few studies published in Nature Genetics identified a few variants that might influence the risk of developing rheumatoid arthritis. In one study, the same variant that affected rheumatoid arthritis has some role in Crohn's disease.
- Insight into Alzheimer's disease. According to 23andMe, "Until very recently, mutations in only one gene — APOE — had been conclusively associated with the more common late-onset form of Alzheimer's (there are other mutations associated with early-onset, familial Alzheimer's disease). In the last few years, however, research groups studying large numbers of people have identified variants in several new genes with small effects on the disease."
- Personalizing treatment. In truth, drugs don't work the same in you as they might in others. 23andMe came out with a Drug Response report that can tell customers how they will respond to medications, how sensitive they are and if they will experience toxic effects. Think about the drug, Warfarin, a blood thinner. The drug now has a label on it saying that two gene variants, CYP2C9 and VKORC1, can affect the dose of the medication.
- Geri-Boomers lifespan. Not sure why this one made the list, but 23andMe says any study claiming to have found genes associated with longevity are too good to be true. 23andMe complained about a paper published in Science that claimed to have found genes associated with living past the age of 100 and the scientists said they could predict if people had genes for longevity.
- First tooth moment. Forget when your baby starts to talk, it's important to note when the baby's first tooth grew-in and how many teeth the baby had at age one. The scientists said that, "the discoveries of genetic and environmental determinants of human development will help us to understand the development of many disorders which appear later in life. We hope also that these discoveries will increase knowledge about why fetal growth seems to be such an important factor in the development of many chronic diseases."
- Your cousin, the Neanderthal. There is genetic evidence that suggests humans and neanderthals interbred. Eww. No doubt, our genes provide a unique look into our distant past. For instance, researchers figured out the genetic makeup of a man called Inuk, who is a human that walked the earth 4,000 years ago. Now, customers can actually log into their profile and compare their genes to Inuk's. I haven't done this, but I have checked my profile for genetic variants linked to blood type, earwax and BMI.
- Latino genetic ancestry. Researchers found that Latino populations have very different genetic variations. People in Ecuador and Colombia are of mostly European and Native American roots. But people in Puerto Rico and the Dominican Republic have a lot of African ancestry.
- Web-based research is okay. 23andMe published its first peer-reviewed scientific study in PLoS Genetics, claiming that customers can self-report their data just as well as trained scientists can.
I am starting to meet more people who have gotten their DNA tested. You can now scratch your head over this: a smartphone or order a DNA test online, as they have come into the same price range.
Harvard geneticist George Church once told me, "I suspect everyone who wants to have their genome sequenced could have it done in the next few years. It depends on the complexity of the social interactions. Even if the price is right, it depends on who else is getting their genome sequenced. If celebrities do it, then it will become a fad and will be accepted more quickly."
Just because the price of sequencing is dropping, it doesn't mean you'll learn useful information about yourself. The meaning of your genetic code depends on how it is read - and what you look for. And not everything can be found in these common variants, which is what 23andMe looks for.
One thing that they might do, is try to interpret the data the same way they did for companies like 23andMe and focus on common variants.
The real story is in the rare alleles. One in ten percent of us are very affected by these, and the sequencing tests reveal them as long as we are looking for them. Almost all common diseases have a rare allele component to it. What happened before is that we went through a fad. Scientists were looking where the light was in the common variants and they mostly ignored rare alleles.
My company, Knome, can test for all 1,800 genes that have known medically actionable rare alleles. While every gene has rare alleles, a lot don’t have an impact. Clinical geneticists order these tests of rare alleles that have large and well-known impacts all the time, but just one or two tests at a time because it is so expensive. That’s going to change.
Related on SmartPlanet:
- Geneticist George Church: Sequencing human genome 'high priority' for China
- Get a DNA test for $99. 23andMe's test is on sale today!
- The amazing race for the cheapest and fastest DNA machine
Jan 13, 2011
Boonsri had a great article in Discover on this (glad to see the link). One quick quibble: 23andMe does not sequence genomes (yet). They use arrays to quickly test for presence/absence of SNPs. This limits their approach to discovering only alleles that they know of, only in regions that they focus on. So Church's rare alleles will go completely missed. And given that most GWAs are only finding a handful of associations between phenotype and a common SNP that explains a very minor amount of heritability, it's likely that multiple rare alleles are the real culprits we would be interested in. Which sucks, because that means that every unhappy disease is unhappy due to its own genetic defect (to paraphrase Tolstoy).
Thanks for an insightful article on genetic ancestry. Your extended piece on the Discovery Magazine site was also well-written and a curiosity generating bonus.