Considering Direct-to-Consumer Genetic Testing? Spit with Caution

By Gali Katznelson

A friend and I had been vaguely entertaining the idea of ordering genetic testing kits for some time. Then, Black Friday happened. My friend called me to share that 23andMe was on sale, 50% off, for 1 more hour! Typing our credit card information into Amazon, we tossed around some half-reasoned arguments in favor of our impulsive purchases: “this’ll be a fun science experiment”, “what if we catch something preventable in time to make lifestyle changes?” and, “we really should be contributing our data to research for the public good.” Within minutes, two kits were ordered and thanks to the magic powers of Amazon Prime, these boxes appeared on our doorsteps within days. Few things in life are as exciting as receiving a mail delivery, but as we unwrapped our packages, finding the words “Welcome to You” plastered on our shiny white Pandora’s boxes, somehow our excitement began to dwindle. One month later, our boxes remain unopened.

Genetic testing is clearly something we should have given more thought before the marketing geniuses got the best of us. Here are some questions anyone considering taking a direct-to-consumer (DTC) genetic test should answer (ideally before buying the test):

1. What do you hope to get out of this test?

DTC tests exist for different purposes. Some will tell you your risks for diseases, some will disclose your ancestry; while others will claim to find out your wine preferences or your athletic abilities. There’s good reason to doubt the scientific rigor of many of these tests (here and here).

Make sure you know what you’re getting into as to avoid unwanted news. Don’t be like the 38% of consumers in this study who failed to consider the possibility of unwanted information before purchasing a test. This can include finding out that your family’s not related to you in the way you thought they were or that you have siblings you hadn’t known about. Is this something you’re prepared to discover? What may have started out as a fun family activity may lead to unintended conflict and even divorce.

You might want to try a test specifically in hopes of taking charge of your health and bettering your lifestyle. More power to you! But consider evidence that shows that six months after learning of an increased cancer risk from a DTC test, participants weren’t likely to make health-related changes. Do you really need a genetic test to nudge you to eat well, exercise, sleep and stress less? It’s New Year’s resolution season anyway.

2. How will you deal with the information?

Most DTC tests, such as 23andMe, are not diagnostic. This means that they will not tell you whether you have a certain disease but will inform you of a percentage risk factor. Are you comfortable with probabilities and uncertainty?

Say your test detects two copies of the ε4 variant in the APOE gene. You learn from the report that an average woman of European descent with these results has a 28% chance of developing late-onset Alzheimer’s disease by age 75 and a 60% chance by age 85. There is no cure for Alzheimer’s.

Now what? What should you make of these percentages? Do they give you peace of mind or do they increase your anxiety? Do you tell your partner, or your kids? Remember, if you’re found negative for this variant, you may still have a risk for Alzheimer’s based on a host of other factors.

Make sure you have someone who can support you emotionally through this process, such as a healthcare professional who can help you understand your results.

3. How concerned are you with privacy?

Your genetic data is sensitive, so sensitive that Congress passed a law in 2008 to protect Americans against discrimination based on genetic information for the purposes of employment and health insurance. The law does not pertain, however, to life, disability or long-term care insurance. It also excludes federal employees, military employees or those getting care through the VA. Think about the risks of potentially needing to disclose your information to insurance companies. And remember that laws can change and while we hope that future policies will place a stronger emphasis on protecting our privacy, there is a possibility that these protections won’t exist in the future.

Also consider the risks of how your data will be handled by the DTC genetic testing companies themselves. To do so, it’s important to actually read that fine print carefully and to understand the privacy policies. Some things to consider are that that these companies aren’t subject to the patient privacy protections established under HIPAA, that de-identified data is not impossible to re-identify, and that companies may disclose your information as required by law.

4. Have you considered your family?

Your genes don’t just belong to you. You share half your genes with your parents and on average, roughly half with siblings, a quarter with grandparents, aunts, uncles, and so on. When you submit your DNA for analysis, you may indirectly find out information about others as well. This is information that they may not want you to know, or may not want to know themselves. If enough family members take a test, it becomes easier to construct the genome of a family member who has never wanted to be tested. Think about how comfortable your family is with your decision to take a genetic test, and how you might handle information learned about them.

So: does anyone want my kit?