For Genetic Testing, the Future Is Already Here
Who Owns Your Data?
Before you spit into that vial and mail it away, make sure you understand the risks of what you're about to undertake. This devil's bargain is about much more than learning about your genealogy and health traits. It could comprise your ability to get life, disability, or long term care insurance or severely affect the rates you pay for those services. It could also impact your genetic relatives, even though they did not personally undergo testing.
23andMe is not the only direct-to-consumer genetic testing service, but it is the largest company in the market. The company is a for-profit, publicly traded organization with major financial backing from pharmaceutical giants GlaxoSmithKline, Johnson & Johnson, and others. Those multi-billion-dollar drug companies obviously seek your valuable genetic data. When you sign up for the service, you are agreeing to sell 23andMe your genetic information so that they can re-sell that biological data to others.
In December 2013, the U.S. Food and Drug Administration (FDA) raised some red flags with 23andMe, and it was out of the genetic testing business until October 2015. In the years since, however, they've come back with a vengeance thanks to clever marketing and Americans' interest in genealogy. But don't be too quick to sign up.
Prior to December 2013, 23andMe touted new age promises of direct-to-consumer genetic testing. At the time, eager users like me were provided with personalized information regarding:
- Risks for 120 health conditions
- Carrier status for 49 rare diseases
- Standing on 57 traits
(The reports sound more useful than they really were, however.)
Users paid $99 for:
- surveys that benefit the medical research community—pharmaceutical companies pay 23andMe big bucks for access to your data.
- uninterpretable raw genetic data.
- ancestry information and
- risk. Plenty of it.
Colorful Survey Topics and Your Private Information
There's No Going Back
If you're not feeling exposed yet, then you should be.
In addition to the ancestry benefits that 23andMe touts, consumers of DNA testing should understand possible medical, legal, and personal risks of getting such testing. They should understand that once certain information is provided, it can never be taken back. This is the proverbial horse that's been let out of the barn. There's no going back on this information.
No matter how curious you are, the benefits that 23andMe provides should pale in comparison to its risks. Yes, welcome to the brave new world of
- spit in a test tube
- pay $99 plus shipping
- answer loads of intrusive personal questions about your health and lifestyle (known medical conditions, pesticide exposure, sexuality, family background, drug use, etc.)
- then turn over your medical and personal data so big companies like Pfizer and Genetech can use it for their own financial gain. (Yes, folks, this is where Big Pharma steps in.)
My recommendation: Think very carefully before you do this.
I went in with an open mind, enthusiastic to discover more. However, I have emerged with deep concerns about privacy, the ability to withdraw from medical research, and who really owns one's data.
Read More From Patientslounge
Do You Really Want To Provide DNA for Ancestry Purposes?
Direct-to-Consumer Genetic Testing Becomes Widely Accessible
The possibility of learning about one's personal genetic unknowns has intrigued the public since 2008, when 23andMe's direct-to-consumer (DTC) genetic test was named Time Magazine's Invention of the Year.1
At the time, however, the company's price tag for personal DNA analysis was $999, placing the service out of reach for many. (For those willing to pay attention, there's a lesson in there about being an "early adopter.")
The Google-backed company has dropped its price several times since then in an effort to attract more customers. In December 2012, the fee was "permanently" reduced to $99, plus shipping ($9.95 in the United States)—permanently, I guess, until the rate increase to $199 in October 2015.2 To add to the confusion, the company now offers two different services, each at different price points.
At these lower prices, many people find themselves at a decision point: "Should I get at-home genetic testing?" I was one of them. I signed up before the December 2013 FDA involvement. I went in with an open mind, enthusiastic to discover more. However, I have emerged with deep concerns about privacy, the ability to withdraw from medical research, and who really owns one's data. Following is my opinion, based on my experience.
We do not sell, lease, or rent your individual-level personal information without your explicit consent.
— 23andMe (personal communication to the author)
What Are You Trading Away For That Ancestry Information?
A Cautionary Tale for Anyone Interested In Genetic Testing
Your DNA Can Make Others Very Rich
Registration Was So Easy
Signing up was so easy, but that's often the thing about mistakes—they're easy to make and challenging or impossible to reverse. As someone who was curious about my own health risks and carrier status, I decided to take the chance and enroll.
I registered online with 23andMe and provided the required personally identifying information. This included my name, address, email address, and credit card information for payment of the service. The option to be tested anonymously does not exist. Don't think I didn't want that option.
The company subsequently mailed me a "spit kit" to collect a small amount of saliva. They had to do it twice because I didn't understand how to properly use it the first time around.
I subsequently returned the sample to the contracted laboratory for processing. (To promote privacy with the third-party testing lab, the consumer uses a registration number instead of his or her name.) Then, after 6-8 weeks, I received the information I had been waiting for.
Full Of Possibilities: Patents, Profits, and Your Genetic Data
|Potential Benefits||Potential Risks|
Learn your percentage of Neanderthal ancestry.
You could discover uncomfortable information about family heritage or biological relationships (e.g., paternity, you're adopted).
Learn the countries where your genome may have come from.
Some of the surveys are very personally intrusive.
Find people in the 23andMe community with similar profiles and interests.
Once you've completed surveys you can never opt out. 23andme retains your data for "internal purposes."
Attempt to contact your DNA relatives near and far. (Many don't respond.)
There is a possibility of exposing individual-level information.
Potentially assist medical research and perhaps indirectly benefit from any discoveries.
Your data could be made public or disclosed to insurance companies.
Possibly manage risk through better lifestyle choices.
It may be more difficult to get life, disability, or long term care insurance. (GINA only protects against genetic discrimination in employment.)
Prepare for the possibility of serious diseases/facilitate conversations with your healthcare provider(s).
Oversharing of relatives' information. Your participation could expose relatives to potential risks that they aren't aware of or don't consent to.
In the event of corporate bankruptcy, consumers' genetic data would likely be considered a corporate asset and sold. That is what happened when deCODE, a prior competitor of 23andMe, went bankrupt in 2009. Pharmaceutical giant Amgen purchased the company in December 2012 for $415M, in part for its large data bank.
You may learn about your own health risks or carrier status and by extension the potential risks and carrier status of your relatives.
Now They Know So Much About You
Why Is a Spit Sample So Valuable?
Personal genotyping consists of genetic analyses conducted on a small sample of a person's DNA. Saliva is used because our spit is a genetic window to who we are. Saliva samples contain DNA cells for analyzing single nucleotide polymorphisms, or SNPs (pronounced "snips"). SNPs are patterns of DNA cells that contain small changes, or copying errors.3 These errors occur when cells reproduce. As a result, SNPs contribute to both observable and unobservable variations in health, physical appearance, and other aspects of what makes each person unique.
SNPs are inherited from one's parents. Therefore, they can be used as an index of genetic similarity. The more closely related you are to someone, the more likely you are to share SNPs. For example, you share more SNPs with a sibling than a third cousin.4
When you turn over access to your DNA plus combine it with personally identifiable information (e.g., name), and then provide survey data (e.g., questionnaires on sexuality, personality, drug use, lifestyle), you hand over the keys to not only your own identity but that of your relatives. Why? Thanks to publicly available records, you have divulged a motherlode of information about not just yourself but also your relatives. And there's no going back.
Who knows how this information will be used in the future?
More than 10 million SNPs exist across the human genome, and prior to the FDA's involvement 23andMe tested for about one million of these coding variations.5 This coverage of only a portion of the genome was one of the major criticisms of 23andMe even before the FDA became involved.
In contrast, competitor companies offer an analysis of their entire genome (called "whole genome sequencing") for about $1,000. Such analyses typically require the involvement of a personal physician.
Family Tree: What Will You Dig Up?
Nothing Is More Personal Than Genetic Analysis
Like hundreds of thousands of other people, I took the testing before the FDA put a halt to 23andMe's personal health analytics. The U.S.Food and Drug Administration (FDA) intervened in late 2013 because of concerns that this service eliminated the physician as consultant or middleman by offering testing services directly to consumers.
During the entire process, rather than relying on a personal physician to request testing, deliver results, and answer questions I communicated directly with 23andMe. Diagnoses were never involved—just potential risk factors and carrier statuses. Imagine, however, the personal impact of discovering that your results include Parkinson's or another serious illness. That physician as middleman sounds more necessary than ever.
The Gate Has Been Unlocked
Regardless of your consent status, we may also include your data in aggregate data that we disclose to third-party research partners."
— 23andMe Privacy Statement
23andMe Testing: You're Putting Yourself At Personal Risk
Do you care about this information so much that you could risk not being able to get life insurance or long term care insurance? If an insurance company gains access to your data, then these could be the consequences not only for you but potentially also for your relatives who did NOT consent to having their DNA tested.
Is genealogy information so important to you that you could risk a possible data breach? Regardless of what 23andMe says about their security and privacy protocols, think about hackers and the value of all that data in one place.
If data systems can be breached at the IRS, Target, Home Depot, Anthem, AOL, Heartland, Ebay, JPMorganChase, and other large organizations, what makes 23andMe and their corporate partners immune? If you think you're not at risk, you're fooling yourself.
Risk Assessment for Health Conditions
I received the full "benefit" of 23andMe services prior to the December 2013 FDA involvement, when they were supposedly unimpeded by government intervention. I was left with a big "so what?" Today's consumers who grasp at the even more watered down health reports should consider that carefully.
The so-called health information was of varying usefulness. Some conditions tested only one or two genes associated with a disease or condition known to involve multiple genes. (What's the real value in that?) Other results were based on findings of questionable validity (e.g., preliminary research studies involving less than 100 people). This is scientifically meaningless.
Still other reports were marginally interesting but of no practical value: hair curl and earwax type. Finally, there were other results that seemed to be issued based on what I had reported to 23andMe already in a survey. They were reporting back to me what I had reported to them. Duh!