The popularity of home DNA testing using commercial direct-to-consumer kits like 23 and me and Ancestry DNA is on the rise. Millions of Americans have sent their DNA to these and other companies with the aim of finding out information about their ancestry, family background, and even potential for diseases¹. But doing so can bring up a wide array of ethical questions—some many never thought they would have to face.
The potential areas of discussion on this issue are vast. They touch on privacy, ownership, consent, and usage of a person’s genetic information for research purposes, the importance of medical counseling once people find out new information about their genetic health, implications to family members who may not have wanted to know information about their genetics or ancestry, and much more.
In Episode 3, we focus our time on one such area—the lived experiences of donor-conceived children. One of our guests always knew that she was donor-conceived, but decided to use one of these commercial testing sites to find information about her genetics she otherwise lacked. Another guest used one of these sites to simply find out a bit more information about the family history she felt she already knew so much about, but made the ultimate surprise discovery upending the truths she thought she knew.
This type of surprise highlights some important considerations when it comes to commercial DNA test kits. For anyone who has not tried one, the process involves receiving the test kit in the mail, creating a profile online, and mailing in a sample of saliva for the company to process and then provide results entirely online. Some may applaud the ability to get such a wealth of information about your health without the perceived barriers that traditional healthcare can produce, such as doctor’s appointments or insurance approval. But the downsides of such a process can quickly become apparent when results raise questions.
If a doctor orders genetic testing, they will have done so when the clinical situation calls for it. Perhaps a patient brings up family history concerning for multiple cases of breast cancer, perhaps a couple planning to have a child both have certain ancestry known to have common genetic issues that should be tested prior to conception. These things may prompt appropriate testing, and, importantly, such testing would then lead to a follow up appointment with the doctor or provider to discuss the results.
The results themselves are another key point where guidance from someone with a medical background is ideal. If, for example, a person finds they are a carrier for a certain genetic variant that has been associated with early onset Alzheimer’s Disease, what does that mean for them? Discovering news like this in a vacuum and without the guidance of a professional can lead to anxiety, incorrect assumptions, and even behavior modification that may not be necessary.
For their part, popular commercial genetic testing sites do provide some guidance to customers about what to do in the event of certain surprise scenarios. They offer a national database of genetic counselors to reach out to if there are questions², and offer guidance on what to do if you discover unexpected relationships³ or family genetic information⁴, including links to crisis counselors if needed. They also offer educational materials about how ancestry information is derived from genetics⁵ and even specific guidance for customers who know they are adopted⁶. But these remain ad hoc and require some level of time investment and baseline knowledge on the part of the customer.
Direct-to-consumer test kits have also produced a variety of interesting and ethically complicated cases. One case involved a baby who had been left outside to die of exposure in 1998. Thirty-two years later, the mother of the child was found after police worked for years to compare the genetics of the baby against genealogy websites⁷. This work led them to family members of the mother, who ultimately led them to the mother herself. The same process led to the now famous identification of the Golden State Killer⁸. DNA from a rape kit was uploaded into a personal genomics website called GEDmatch—the same used in the prior case—which identified a number of people who had the same great-great-great-grandparents as the perpetrator. Investigators used this to construct a family tree and ultimately correctly identify the true perpetrator.
This type of use of genetic information from Direct-to-consumer test kits creates a fascinating series of bioethics questions and points of debate. Importantly, GED-match is not a direct-to-consumer kit company, but rather one where people who have used such kits can voluntarily upload their information to get more information⁹. But such an action has implications on the relatives of those people who share their DNA. Although the individuals themselves consent to the terms of the database, their relatives—who clearly can be affected by such an action—do not need to consent or even be alerted to these actions. Furthermore, while in the aforementioned cases we might say that the use of genetic information led to the identification of perpetrators, unrestrained use of this information could lead to abuse and misinterpretation.
In these ways, the field of direct-to-consumer genetic test kits leaves us with the need to consider issues of privacy, consent, and the importance of guidance along with health information that can help individuals navigate whatever comes of their results. The legislative landscape is sparse but evolving, and will continue to require careful balancing for those considering using these kits and the clinicians who may have the chance to advise them.
de Groot, Nina F et al. “Commercial DNA tests and police investigations: a broad bioethical perspective.” Journal of medical ethics, vol. 47,12 788–795. 11 Sep. 2021, doi:10.1136/medethics-2021-107568 (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8639940/#:~:text=Over%2030%20million%20people%20worldwide,identify%20suspects%20in%20criminal%20investigations)
Wickenheiser, Ray A. “Forensic genealogy, bioethics and the Golden State Killer case.” Forensic science international. Synergy vol. 1 114-125. 12 Jul. 2019, doi:10.1016/j.fsisyn.2019.07.003