Home Genetic Testing: Is It For Me?

I have an admission to make: I am a cheap skate. Whenever purchasing something online, I always look for the cheapest place to get it. I’m not willing to sacrifice quality to get something cheaper, but I do want to find the best price available for the product I want.

This often leads me down the rabbit hole as I try to figure out if one product is just as good as another product, and whether there are any catches to the seemingly too-good-to-be true price I’ve found.

Because we live in a crazy, rapidly evolving world, this “bargain hunter” ideology has begun to apply to an unexpected area: genetic testing. As I sit here today, I easily found more than 10 tests available directly to consumers for less than $200. Out of context, that may sound like a lot of money. However, when you consider that some genetic tests can cost over $4000 and also consider that the same direct-to-consumer tests cost over $1000 less than a decade ago, this begins to seem like a steal.

But as I always ask myself, what is the catch?

First off, you need to understand that not all genetic tests are alike. Some, like the breast cancer screening recently announced by 23andme are very specific “genotyping” tests, and only look for very specific conditions. Others, like the test offered by ancestry.com aren’t intended for medical diagnosis at all, but instead help you discern your genealogy. Still others are scams hoping to capitalize on this new, exciting and largely unknown technology before consumers become wise to what to look for.

In short, if you’re looking for a cheap, comprehensive and reliable at-home DNA test, it doesn’t exist…yet. Genetic testing is often too nuanced for the population at large to offer any consistent benefits when used by itself. That said, genetic testing is hugely beneficial in the right context. For example, genetic Whole Exome Sequencing (WES) is the only way to diagnose White Sutton Syndrome.

Confused about where to start? No worries – here’s a checklist of things to do when considering at-home genetic testing.

Talk to Your Primary Care Physician. This is a great place to start. While your PCP may not be the one to order a genetic test, they are much more equipped to refer you to someone who is, and will also be able to explain the pros and cons of genetic testing to you.
Consider Genetic Counseling. Genetic testing isn’t for everybody. Some conditions are not caused by genetics, some conditions can’t be diagnosed with cheaper at-home tests, and some people are not ready to deal with the results that genetic testing may show. Certified genetic counselors can give expertise, insights and context that can help you understand what’s best for you.
Consider Your Privacy. There isn’t a big industry for identity theft by way of your genetic information…yet. But as genetic testing and use of that information becomes more commonplace, that information will only become more valuable to potential thieves. If you do opt for an in-home genetic test, make sure you use a reputable company who provides specific assurances that your privacy will be safeguarded.
Don’t Put Too Much Stock in Them. Remember that this industry is in its infancy. 23andMe is a relative giant in this industry, and they were founded in 2006 and have only been selling direct-to-consumer testing kits for a little over 10 years.
Do Your Research. Don’t take any sales pitches at face value – even companies with good reputations can still over-sell the benefits of their products. Research companies using reputable organizations like Consumer Reports and the National Library of Medicine’s Genetics Home Reference. And this can’t be overstated: talk to your doctor.

We live in an exciting time, where genetic breakthroughs are happening all the time. We may soon see the reliability of direct-to-consumer testing improve dramatically, as costs continue to come down and more and more genotyping tests become available. But for now it’s often best to take these products with a heaping helping of context, courtesy of the doctors and medical professionals we already know and trust.