Illustrative image for Addressing Questions About DTC Genetic Tests and Privacy

Bioethics Forum Essay

Addressing Questions About DTC Genetic Tests and Privacy

The process is fairly simple. You select one of the companies that offer direct-to-consumer genetic tests; pay online; receive a neatly packed kit that contains a tube designed to collect your spit; return the package using prepaid postage; and wait for the results that will unravel the mysteries of your ancestry. If you have opted to receive this information, the results might also reveal what diseases you are—and are not—predisposed to.

Several of my friends and relatives have already responded to the advertising galore to “access, understand and benefit from the human genome.” While these advertisements seem innocuous, they represent the initial stages of an emerging phenomenon that could eventually alter the traditional understanding of genetic privacy—and privacy in general. Examples have already started to emerge.

A few weeks ago, the FBI confirmed that it had used DNA information publicly available on ancestry websites by matching genetic information about relatives to track down the Golden State Killer, also known as East Area Rapist. The suspect was arrested for one of the most famous and unsolved serial rape and murder cases in the United States. While this case represents an important forensic victory, it also reveals the lack of information on the ethical implications of DTC genetic tests. As the market for these tests grows, bioethicists and genetic counselors could play an important role in educating the public about the implications for privacy and potential harms.

Although DTC genetic tests are sold to individuals, the real danger lies in the collective information gathered from millions of customers. A board member of  23andMe has discussed the company’s long-term strategy: “The long game here is not to make money selling kits, although the kits are essential to get the base level data.” In other words, the ultimate goal is the collection of massive amounts of genetic data–and the danger lies in the commercialization of the data. A particularly troubling implication would be insurance companies or pharmaceutical companies using this information to sell certain products (medications or insurance policies)–or deny products and services–on the basis of an individual’s genetic information. Although most companies have policies that prevent sharing genetic information with third parties without explicit consent from consumers, if there is one lesson from the recent Facebook debacle, it is that aggregate anonymized data is not necessarily secure.

Much of the genetic data collected by the DTC companies is purportedly aggregated and de-identified (and, hence, is exempted from most IRB regulations), but as the arrest of Golden State Killer reveals, linking genetic information to a particular person is possible. A fascinating paper published several years ago in the journal Science suggested how easy that can be. The paper reported that it is possible to determine a person’s surname by studying the short tandem repeats on the Y chromosome and linking that with information publicly available in genealogy databases. Combining the person’s surname with metrics such as age and state of residence, it is possible to identify him.

Another privacy question related to DTC genetic tests concerns the right of patients not to know information about themselves. In most clinical encounters, if a patient does not want to know the result of a certain genetic test, the health care provider should respect that decision and not disclose the result. Having said that, the question of whether it is ethical to disclose familial genetic risks to third parties is currently being argued in U.K. courts. Although much of the health-related information reported by commercial genetic testing is harmless (and amusing at times), such as whether a person is a deep sleeper, how much caffeine a person can tolerate, or whether a person is lactose intolerant, the list of health-related traits now includes several serious, incurable conditions.

The Food and Drug Administration recently granted DTC genetic testing companies permission to report on the risk for 10 diseases, including Parkinson’s disease, Alzheimer’s disease, and Gaucher disease. Although some people might find obtaining this information empowering, it can cause harm. For example, while customers do consent to obtaining risk factor information, a mere click on the “yes” dialog box cannot be considered “informed consent.” And, it is one thing for test results indicating a high risk of a devastating illness to be given to patients at a health care facility, where professionals are available to provide additional information and counseling, but when people receive this information on their own, they might experience significant psychological harm.

By raising these ethical concerns, I do not mean to suggest that commercial genetic testing is wrong. If people want to explore their ancestry or genetic makeup, they should be free to do so. In fact, there are examples of DTC genetic ancestry tests helping to fight bigotry and racism in America as well as to expose the myth that some races are superior by demonstrating how each of us is a complex and diverse mix of genes that derive from various parts of the world.

However, bioethicists and genetic counselors should play a more active role in informing and engaging with the public about how to navigate expectations when they receive information on their genetic makeup. While there is a lot of information on how to get these tests done, there is a paucity of information on what to do once the results arrive (especially if they show a high risk for a disease). Bioethicists could advocate for genetic privacy through greater transparency and scrutiny of DTC kits and by supporting robust clinical studies that examine the harms and benefits.

Genetic counselors could engage in public discourse by writing or speaking and providing resources that inform customers about the implications of receiving negative test results. For genetic counselors, getting more involved in national health policy is also important.  Even though there is an exponential rise in the usage of DTC kits, for those consumers who need help, there aren’t enough licensed genetic counselors in the country. This kind of expert guidance will be vital if we intend to preserve genetic privacy. An informed consumer is an empowered consumer.

Junaid Nabi, MD, MPH, is a physician, public health researcher, and a medical journalist. He is also a New Voices Fellow at the Aspen Institute. Twitter: JunaidNabiMD

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