Direct-to-consumer DNA tests use big data analysis to provide a quick and inexpensive way to find long lost family members and even discover genetic health risks.
It may be no surprise that some people consider human DNA the original “big data,” but until recently, direct-to-consumer (DTC) DNA tests remained out of reach for consumers. Today, however, genotyping technology allows people to more affordably crack their personal DNA codes to learn where in the world they came from, how to live healthier or find a life-saving treatment.
Innovation in big data technologies and specimen analysis equipment make a spectrum of DNA tests available — from expensive full genomic sequencing to low-cost biofluid analysis for DNA genotyping.
“An exciting time is quickly approaching where large swaths of the population will be able to learn their genetic risks early and prioritize behaviors to reduce those risks,” said Ali Torkamani, director of genomics at the Scripps Translational Science Institute.
Interest in DNA data is skyrocketing. Nearly 6 million people have tested their DNA through AncestryDNA, which has the world’s largest consumer genomics database. And, according to Credence Research, the DTC genotyping test market, valued at $70.2 million in 2015, will likely reach $340 million by 2022.
Big data and statistical analytics tools reduce the processing time for DNA results. DNA genotype testing is now easier, cheaper and faster, providing consumers with more information than ever before, according to Julie Granka, manager of personalized genomics at AncestryDNA.
“Previously, DNA tests required a blood draw,” said Granka.
“But now you can spit in a tube in the privacy of your home to learn about your ethnicity, find distant relatives, estimate your risk of diseases like breast or colon cancer, and gain insight into which drug or dose of drugs may be harmful or beneficial.”
Using DNA to Discover Ethnicity
Using genotyping, companies such as AncestryDNA can provide consumers with a detailed breakdown of their ethnic mix. Looking at 165 regions throughout the world, DNA researchers can pinpoint migration paths that people’s ancestors may have taken, and reveal connections with relatives they never even knew existed.
Adopted as a toddler, Sylvia Kewer always thought she was an only child. After undergoing DNA testing at AncestryDNA, she discovered that she has four half-siblings. She recently met her long-lost family at a family reunion, along with dozens of other relatives she never knew she had.
“I was just so happy to be by myself, then to find out I have all these relatives,” she told ABC News. “I finally know where I came from.”
It’s big data analysis that enables companies to compare 700,000 DNA letters for a single individual against several hundred thousand other test takers to find genetic matches for family, according to Ken Chahine, senior vice president and general manager for AncestryDNA.
“Since we don’t have a genetic dictionary that tells us what we are looking for, scientists use the genetic signatures of people who have a long history in a specific region, religion, language or otherwise practiced a single culture as a dictionary,” said Chahine.
“Once enough of those genetic sequences are gathered, teams of geneticists and statisticians use the dictionary to define what part of your genome came from similar regions.”
Using DNA to Understand Cancer
When faced with a life-threatening disease, consumers may turn to medical professionals for help. Many state-of-the-art cancer research facilities use robust DNA sequencing to help properly diagnose and treat cancer.
Full sequencing is done by medical professionals to determine the exact sequence of all or parts of the 3 billion base pairs of DNA packaged inside a person’s 23 chromosomes. DTC DNA tests are more affordable because they only focus on genotyping a person’s genetic variants, with results provided in a matter of weeks.
But life-saving genomic sequencing, while still out of reach for most consumers, will only become more affordable and accessible.
Told he didn’t have long to live, Bryce Olson, global marketing director of Intel’s Health and Life Sciences, knows all too well the power of DNA testing. In 2014, he was diagnosed with Stage 4 metastatic prostate cancer. He underwent surgery, chemo and hormonal therapy, but nothing seemed to help.
Olson had his DNA sequenced and his tumor analyzed at the Knight Cancer Institute at Oregon Health & Science University (OHSU). He then searched for a clinical trial that would be the best fit for his particular cancer — based on his DNA data.
“I wanted to understand specifically what mutations and variants were driving my cancer and then try to take action on that information,” said Olson.
After participating in a trial, he has beaten his initial prognosis by more than a year.
Having his DNA sequenced inspired Olson to explore DTC DNA genotyping services that could help him learn even more about how his genetic makeup impacts his life.
Test results — and the implications — can be confusing, said Olson. A complete understanding of DNA findings helps in making informed health decisions.
“The overall risk for any particular disease is determined by a combination of genetics, environmental exposures and lifestyle,” said Torkamani of Scripps.
“When it comes to genetic testing, it’s important to know what is being tested, how comprehensive that test is, and how comprehensive our knowledge of the particular disease or trait being tested is in order to interpret the results of a genetic test.”
Using DNA to Track Health Risks
Today, people can use their DNA to understand health risks and take proactive steps to minimize potential problems. Over the past decade, the testing of genetic variants for diseases has improved tremendously, said Torkamani.
“The combination of this knowledge along with technology has driven the utility of genetic testing in a way that was not previously possible,” he said.
Offering the first FDA approved DTC DNA genotyping test for genetic health risk, 23andMe screens for a person’s genetic predisposition to 10 diseases or conditions, ranging from celiac disease to Alzheimer’s disease. While the tests provide genetic risk information, they can’t determine a person’s overall risk of actually developing a disease or condition, according to the FDA.
“Tests such as 23andMe offer the potential to flag something that isn’t making a person sick today, but could make them sick tomorrow,” said Olson.
“That opens the door to be more proactive to stay on top of it and detect it much earlier if it occurs.”
Parkinson’s disease, a nervous system disorder impacting movement, is among the 10 diseases the DNA testing can identify as a genetic risk. With more than 11,000 participants, 23andMe now has the largest online community of genotyped Parkinson’s patients.
The group participates in surveys that track progression of the illness, symptoms and reactions to medication. This data is important to the FDA, which invited the Parkinson’s patients to a panel to share their stories about living with the disease, giving a personal view that may help with treatment research, according to Paul Cannon, Parkinson’s disease program manager at 23andMe.
“We strongly believe that the patient perspective is key to understanding how to approach and manage a disease as well as the development of new treatments,” said Cannon.
Through other non-FDA approved genotyping tests, 23andMe also can test whether individuals are DNA carriers for inherited conditions such as cystic fibrosis and hereditary hearing loss, which potentially could be passed on to future children.
DNA is the Future
When it comes to DNA testing, experts say this is just the beginning — down the road, such tests will reveal much more.
AncestryDNA’s Granka believes that science has only “hit the tip of the iceberg” when it comes to understanding how genetic information can improve lives.
“I anticipate that we will live better, healthier lives, and learn things about our species and ourselves we never dreamed possible.”