First in series.
Medical and legal experts warn that taking a DNA test is like opening Pandora’s box — once the test has been taken, there’s no way to forget the information in the results.
The number of people opening the box is increasing rapidly. Over the past few years, commercial sites like Ancestry and 23andMe have made DNA tests accessible for the masses. More than 26 million people have already taken a test — a number that is projected to reach 100 million by 2021, according to an MIT Technology Review.
BYU professor Stephen Piccolo, who researches genetic cancer markers, said that before taking a test, people should weigh whether they will be able to deal with the discovery of potentially damaging information.
“If you’re the kind of person who worries that you won’t be able to not take it too seriously, then I would say avoid it,” Piccolo said. “For some people, knowing that they have a genetic variant that puts them at a relatively high risk of a certain disease can give them a lot of anxiety, so that alone might be a reason for them not to find out.”
Piccolo also said people should understand that most commercial DNA tests are identifying risks for diseases that are polygenomic, meaning they are controlled by multiple different genes. This makes it difficult to accurately quantify the risk for any one person. Because of this, Piccolo said the risk-for-disease results that commercial DNA companies provide are “somewhat accurate.”
“If you take a test and it says you have a higher risk of such-and-such disease, it’s worth considering,” he said, “But I think you should also view it with some skepticism.”
BYU biology professor John Kauwe, an expert on genetic risk factors for Alzheimer’s disease, agrees with Piccolo’s stance that many commercial DNA tests may not be the be-all-end-all, especially since environmental factors can mitigate or aggravate a person’s risk of certain diseases, like diabetes.
“There is the potential for people to get really concerned about that information, when in reality, it may not be as meaningful or concerning as they think it is,” Kauwe said.
He added that some of the risk estimates for certain diseases given by commercial companies are based on a single genetic marker and that these genetic markers may alter the risk by as low as 1% or at the very most 10%.
“It’s just important for the general public to understand that most of the information coming from those popular retail tests is probabilistic, and it’s addressing one piece of a risk profile that consists of many genetic markers and environmental factors,” Kauwe said.
He also said genetic risk projections from commercial companies can help motivate people to take control of their health, but that they do not provide the same type of definitive and clinically actionable information as a clinical test conducted by a physician in conjunction with genetic counseling.
Kauwe has participated in all the major retail genetic testing programs and said he has enjoyed it.
“To me, it’s fun to pull out my app and look at things with others,” he said. “But it hasn’t changed my life in any significant way.”
He said he doesn’t have major concerns about how his genetic information will be used.
“I feel like the companies are pretty motivated to keep that privacy intact because their business model wouldn’t persist if they made that type of information readily available,” Kauwe said. “On the flip side of that, they are using it to do research and that research is valuable.”
“There are some meaningful insights that are coming from the type of information that 23andMe and others are collecting, and the potential for those data sets to do more good in the future is actually quite good,” he said.
BYU law professor Stephanie Bair is slightly less optimistic than Kauwe when it comes to genetic laws.
Currently, the main federal law governing genetic information and privacy is GINA (the Genetic Information Nondiscrimination Act of 2008). An amendment to HIPAA (Health Insurance Portability and Accountability Act) regulations that added genetic information to the definition of protected health information was also passed in 2013.
While GINA prevents health insurance companies and employees from using genetic information to discriminate against a person, it does not apply to employers with fewer than 15 employees, educational institutions’ relationships with their students, the ability of law enforcement entities to subpoena genetic information, the rights of business owners to refuse services to customers, housing discrimination or life and disability insurance coverage.
According to Bair, GINA is not comprehensive enough.
“People really didn’t foresee the types of situations that would be arising,” she said. “There are lots of ways that people could be affected in their daily lives that go beyond the employment and the insurance situations that are covered in GINA.”
She believes the main thing consumers should be concerned about when taking DNA tests is that testing companies are not completely regulated in terms of what they can and can’t do with customers’ genetic information.
Major testing companies like Ancestry, 23andME and GEDmatch have an opt-in system where customers agree to allow the company to share their genetic information with third-party entities, such as research programs or law enforcement.
According to Bair, about 75% of consumers choose to opt in, a choice that can have mixed results.
“I think people have altruistic motives when they’re opting in,” Bair said, “but they might not fully recognize the more sinister ways in which their data could be used.”
She said that before consumers decide to opt in, they need to be aware of what they’re getting themselves into.
The best-case scenario is the companies share the data with academic researchers who are trying to use the data to come up with new cures for diseases, Bair said, adding that worst-case scenarios involve companies selling genetic data to pharmaceutical companies who profit off the data or sharing the data with information brokers who compile data on individuals, including credit card history and social media data.
“They could just be adding that DNA data to that stockpile of information that they have about you,” she said. “It’s probably a disturbing aspect for a lot of people.”
Because of these gaps in the law, Bair said more regulations are coming in the near future.
Ancestry, 23andMe and Helix launched the Coalition for Genetic Protection in 2019. Their goal is to establish best practices for the industry and propose recommendations to Congress.
For Bair, the coalition can be taken as a sign that these companies are doing their part to resolve the lack of genetic privacy and discrimination laws or it can be viewed as the companies trying to influence regulations to be in their interests.
“The question is just how much input are the genetic companies going to have into this regulation and how favorable is it going to be to consumers versus the companies,” Bair said.
The companies have emphasized their commitment to protecting customers’ data.
“Safeguarding this information is Ancestry’s top priority,” Ancestry Spokesperson Camille Penrod said. “Ancestry will not share customer personal information with law enforcement unless compelled to by valid legal process and we will always advocate for our customers’ privacy and seek to narrow the scope of any compelled disclosure.”