About 99.99 percent of human DNA is identical; we’re mostly all the same. But somewhere in there, markers on alleles and the smallest difference in a chromosome allow geneticists to tell us where our ancestors are from and what our ancestry is. Kind of. It’s still a developing science.
There are quite a few genomics and biotech companies looking to data-mine the world’s DNA, and 23andMe, named after the 23 pairs of chromosomes in a normal human, has been rising ahead of its competitors.
Here’s how it works: A DNA kit is sent to your home. You spit into a saliva tube, register the barcode online, and send the tube to the DNA lab for examination. No blood or needles, just spit. Depending on if you bought the Ancestry Kit ($99) or Health + Ancestry Kit ($199), your results will come back in 6-8 weeks with your estimated genetic history and potentially genetic disease if that’s the kit you chose.
In their early years, DNA testing companies ran into a lot of problems with the FDA. After extra research and careful wording, 23andMe’s Genetic Health Risk and Carrier Status reports now meet FDA criteria for being scientifically and clinically valid. All saliva samples are processed in CLIA-certified and CAP-accredited labs.
While most scientists say genotyping is probabilistic not deterministic, the company claims to be so reliable they can process results down to the 0.1%. However, several users have reported issues with the DNA testing results. After sending their DNA to multiple companies (23andMe, Ancestry, and National Geographic which uses the company Helix), their results were vastly different. This could be due to human error or false positives, but it is more likely the database of the results are pulling from. @23andMe has over 5 million customers in their database, but the majority of them are white, and the same goes for most other genetic databases. The more genetically diverse the database, the more fine tuned the results will be, but people of color don’t want to take a test to get vague results. A bit of a catch-22. The company is hoping to remedy this by expanding their global data-mining efforts.
Part of why DNA testing is so popular in America is because the country is made up of many immigrants and diverse ethnicities. One DNA sample changes year by year, which isn’t a result of the genes changing but rather the science. And every company uses a different approach to examine markers and analyze them. Until that process is refined and diversified, results will always vary.
An important fact to remember is that DNA doesn’t always reflect where your DNA was in the past, but rather where it is today. After years of wars, empire takeovers, diasporas, and migrations, some markers can be hard to trace back. People are also reminded that new DNA revelations are not necessarily your identity. One user was left with an identity crisis after coming from a Mexican family and finding out the grandfather was actually Syrian. She reportedly didn’t know how to carry on identifying with a culture she wasn’t actually from. Part of this self-identification comes from the industry’s advertising campaigns to rely on DNA tests to define them. Other users report psychological trauma from learning they carry genes for Parkinson’s or breast cancer, and are not prepared with how to react.
23andMe’s 60 staff scientists do internal analysis at their lab in Mountain View, California. It was the first company to use autosomal DNA testing for ancestry, which most companies use now. In 2008, the saliva-based direct to consumer business was named Invention of the Year my Time Magazine for offering estimates of predisposition testing on over 90 traits and conditions. Founders Linda Avey, Paul Cusenza and Anne Wojcicki won that award after just two years since they founded the company in 2006.
Investors couldn’t throw money at 23andMe fast enough. In 2007, Google invested $3,900,000 in the company along with several other ventures. In 2012, 23andMe raised $50 million in a Series D venture round, almost doubling its existing capital, and in 2015, the company raised $115 million in a Series E offering, increasing its total capital to $241 million. In 2017, the company raised $250M at a valuation $1.75B.
23andMe is constantly developing new research programs to place themselves as a forerunner in the genetic research lines. The company has a new health hub, where customers can share information about health conditions, helping others and giving 23andMe more data. The company also partnered with drug testing company GlaxoSmithKline in 2018, allowing the pharmaceutical company to use the test results from 5 million customers of the 23andMe to design new drugs. GlaxoSmithKline has also invested $300 million in 23andMe.
Privacy issues are still under speculation. You can remain private or publicly share your results, but stories of illegitimate children and hidden adoptions are always popping up in the news. Then there’s medical issues. A federal law (GINA) provides protection from employer and health insurance discrimination, but regulation for discrimination is still undetermined as the industry itself continues to evolve. After the story of the Golden State Killer being caught through a relative’s DNA testing, many users worried police would have access to their DNA. The companies do not provide information to law enforcement unless required to comply with a valid subpoena or court order, but crazy uncoverings can still happen.
And that’s how you turn turning tubes of spit into health reports and ancestry analysis!