By: Sam Ernst
Today, there is considerable interest in all areas of medical practice around the concept of precision medicine, where disease prevention and treatment could be tailored to each person’s unique biology and life experiences. Innovative technologies like genetic testing are the first step to making the goal of precision medicine a reality.
As the general public grows more interested in using genetic testing to learn about their genetic history and possibly guide their health care decisions as part of a precision medicine approach, genetic testing super-giants like 23andMe and Ancestry.com are taking the market by storm. These platforms allow people to learn more about their genetic background and risk profiles for certain diseases like Parkinson’s or breast cancer. The FDA also recently announced their approval of 23andMe’s over-the-counter test to screen for 33 genetic variants that may influence a person’s response to certain medications. These genetic testing kits are so common that if you enter your local pharmacy store, chances are you’ll find genetic tests for food sensitivity, allergies, and even fitness/athletic ability.
But what are the implications of these consumer products? Are consumers able to feel secure and confident in their decision to use these products? Based on the science that’s currently available, can they really help us make wiser decisions about health care on our own? Here we discuss the qualities of genetic testing that may be worth considering to anyone interested in using these products.
The number of people using home genetic testing kits is growing by the millions, which means companies are acquiring enormous amounts of data about individuals and their genetic makeup by the day. That’s a lot of data in the hands of tech companies.
Many of these companies—especially the larger platforms—have private databases, including 23andMe, whereby the company owns the database and keeps its data private/protected. However, many smaller consumer genetic testing companies are not private and allow outside parties to have easy access to genetic data. What is often missed by consumers is that this genetic data can not only identify individuals, but also their relatives—meaning that you do not even have to take one of these tests in order for your genetic information to be shared. For example, police obtained genealogy and genetic data from GEDmatch to identify Joseph DeAngelo as a suspect in the case of the serial murderer and rapist known as the Golden State Killer. This was all made possible because his relatives had used the GEDmatch platform.
Although this situation is certainly very unique, data security should remain at the forefront of consumers’ minds, especially in the wake of incidents of data misuse such as the Facebook-Cambridge Analytica scandal. As a consumer of genetic testing platforms, it is important that you know how your data is stored and your privacy is maintained. If deciding between platforms, it might be good to choose one that will do more to protect your data.
It’s important that all data are secure, but do people really know how much data these large companies can collect and how they can use that data?
Unlike academic institutions, which often have face-to-face and highly transparent consent processes to explain the participants’ rights and any risks that might occur as a result of being involved in a research study, these larger genetic testing companies have electronic consent files that may only require a quick click of the mouse to provide consent.
Although these electronic consent files contain all of the necessary information about the risks and benefits of home genetic testing, it can be difficult to know if people actual read these documents and if they do, if they understand their risks. It’s simple to just click “I agree that I have read and understand the terms and conditions” without critically thinking about those terms. However, as genetic information becomes more readily used in research, medicine, and industry, it will be important to make sure people are well-informed of exactly what it is that they are signing away when they check that consent box.
Genetic Counseling vs. Empowering Patients
The fact that people can easily access their genetic data can be both empowering and worrying. Although the FDA has stated that patients should not use these tests for medical advice or to make treatment decisions on their own, there is not much support offered by these large companies to help people interpret their results.
23andMe’s CEO, Anne Wojcicki, argues that a trained intermediary or a genetic counselor is not necessary to interpret results and that these aides could hinder one’s independence. Wojcicki has argued that consumer genetic tests are comparable to at-home pregnancy tests and should be treated as such. Is this a fair comparison? Pregnancy tests provide clear-cut results (except, of course, there can be false positives and negatives). However, there are few diseases—whether cancers, psychiatric illnesses, or more benign conditions—that can be easily detected or explained fully within a page of genetic test results. While some people may be able to understand these results on their own, a good number may be at risk of misinterpreting results and could benefit from extra support.
In the medical world, genetic testing is often—if not always—accompanied by the assistance of a genetic counselor. As a profession, genetic counseling has become a rapidly growing field, with employment of genetic counselors projected to grow 29% from 2016 to 2026—a rate that exceeds the average of all occupations. However, although genetic counselors are being hired by pharmaceutical and lab testing firms, they are not as welcomed in the business world of genetic testing and few are integrating with home genetic testing products. But should they be?
Genetic counselors can be a key to explaining the nuances and limitations of direct-to-consumer genetic testing to the general public. These tests can also leave people feeling upset, scared, surprised or confused, so genetic counselors can offer helpful guidance and informed advice on whether to pursue further testing or medical interventions. Even though company websites may provide written information online, this cannot replace or be as effective as face-to-face consultation when consumers are under psychological distress pre- or post-test.
As the potential uses for genetic testing technology grows, it is important to consider whether a genetic testing product is secure, easy to understand, and if it provides support for interpretation of results and the emotions that come along with those results. As a community, scientists can play a critical role in helping consumers better understand how genetics impact one’s susceptibility to different diseases and be transparent about the limitations of current technology. Consumers should also pursue home genetic testing with their eyes wide open, knowing in advance the possible risks and benefits of these products, in order to make informed decisions about their use.