Getting to Know You—Is It Worth It?

07/22/2016 12:22 am ET

Recently reading about the proposed Genetic Research Privacy Protection Act, which protects the privacy of research participants, made me reflect on an afternoon in 2011, when my friend Megan and I were discussing gifts worthy of the title “Best Ever.” Her top choice was an at-home DNA test kit produced by the recently founded startup, 23andme. “It’s so cool,” she said, “You send them a saliva sample, and they tell you your ancestry based on your genes.” I was intrigued. And skeptical. Though DNA testing had become common in the criminal justice system and paternity tests, the idea of mailing your DNA to a company for an ancestry report was foreign. This novel concept, however, marked a dawning trend in science and technology ventures. Five years later, the momentum behind genetic decoding is still building rapidly, with a number of biotech startups at the forefront of the genetic crowd-sourcing movement. By building personalized healthcare empires on individuals’ genetic information, these ventures have the potential to change society’s views on medicine and healthcare. Additionally, these enterprises can offer customers excitement, self-discovery, and the opportunity to aid current research. Their products, however, also bring with them a host of new concerns for privacy and self-perception that have yet to be fully addressed.

Consumer DNA testing kits, such as those offered by 23andme and ancestry.com, operate on the principle that humans share DNA sequences, which are approximately 99.5% identical from person to person. What makes each person genetically unique are “variants”—slight dissimilarities at specific locations in an individual’s DNA sequence. Many studies have linked variants to particular ethnic groups, traits, and health conditions. For example, one variant of the HERC2 gene can lead to lighter-colored eyes; another is responsible for darker-colored eyes. 

How do gene variants figure into at-home DNA kits? When a customer sends in her saliva sample, she is sending a sample of cells from her mouth that contain her DNA. This DNA is processed on a chip that recognizes variants. Depending on the kit provider, the chip will offer a detailed trait report with information such as your chance of having freckles, whether consuming alcohol may cause your face to flush, and if you might one day develop a particular health condition.

Maggie Bartlett, NHGRI

Though kit providers showcase user testimonials that describe surprising health discoveries, most users I’ve spoken to use the service to explore their genetic ancestry.  Knowing her husband, Eric, was curious about his ancestry, Megan ordered a 23andme kit. When his report came in, he was ecstatic to learn about his previously unknown Nordic pedigree but then he noted, “Some of my ancestors were Cherokee. But these results say 0 percent Cherokee.” Eric’s experience underscores an important caveat of such direct-to-consumer DNA testing kits: the accuracy of reported likelihoods is largely dependent on already identified variants. It’s important to bear in mind that many variants have yet to be connected with a particular ethnicity or trait. The overall accuracy of the reports from the kits are not absolute, but suggestive. 

It’s important to also note the non-absolute nature of these kits in determining health information. The underlying causes of health status and traits are complex, and rely on a symphony of genes working together to orchestrate outcomes. For example, though a kit can determine if someone has a particular variant commonly associated with Alzheimer’s, it cannot indicate with certainty if that individual will ultimately develop the disease. In addition to variants, our environment and lifestyle choices can also influence health conditions and traits—something that many at-home DNA tests do not currently consider.

To help build more complete variant databases and more accurate statistical models, at-home DNA kits encourage users to share their DNA sequences with current research initiatives. When customers submit their saliva samples and their DNA is sequenced, the sequence is stored in a database. Users can then opt in to donate their stored DNA sequences to research endeavors poised to identify additional gene variants that may be connected with particular health outcomes. Donors are asked to fill out health surveys, the end goal being to connect user responses to variants that could be involved in certain diseases.

National Human Genome Research Institute

While sharing one’s personal genetic code may open the door to exciting discoveries, the decision to do so should not be made lightly. As concern grows about reduced privacy in an increasingly personal data-centric society, the notion of sharing one’s personally identifying features on a genetic level continues to be hotly debated. DNA sequence banking and research endeavors allow the broader public to support disease and ancestry research, but it’s possible that donors’ genetic information could be used against their interests. Current legal protections prevent donors’ information from being shared with employers and health insurers, but fall short of universal coverage. Consumers have limited say over how their DNA is shared, who sees their genetic sequence and in what context – a particular concern for members of ethnically identifiable populations with a higher risk for a specific disease-causing variant.

As for the guarantee of anonymity offered by kit providers? Should an anonymous DNA sequence be linked to personally identifiable information, the privacy of the donor is breached. Alarmingly, a 2013 study was able to identify donors and their families based on donor sequences, age, and geographic location simply by using the internet. The risk of a privacy breach also carries over to the donor’s immediate family—as variations between family members tend to be similar.

Nonetheless, when I asked Eric if he was concerned about abuse of his DNA sequence, he shook his head. This is not surprising. A clear precedent of the true risks and rewards of sharing one’s genetic information has yet to be established. With the growing popularity of at-home DNA testing kits and inadequate protection of donor privacy, there is no better time than now for society to discuss the health implications of these new technologies and how best to manage the new challenges they bring to ensuring privacy.

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