Should people having at-home DNA tests for medical purposes?

I’m often asked for my thoughts on whether at-home DNA tests should be used for medical purposes, since they are the only option some people can afford.

This a complex question, but it is one I have thought about and continue to think about.

It’s hard to answer succinctly because of all the moving parts -- access to an ordering provider for clinical DNA tests, additional costs for getting customized support or counseling support, the next steps to take in the medical system if a test is positive, etc. -- I address some of these in my recently published book since I am very close to all of these moving pieces and will write just a bit about it here.

I’ll use a hypothetical scenario to explain how I feel about at-home DNA testing as a genetic counselor who specializes in ancestry testing but remains abreast of advances in the world of medical genetics.

Imagine you are walking down the street, trip on a curb, and fall down so hard that you break your leg and scrape up the skin. A medic comes along and says, "I have gauze and a lollipop I can give you to help you feel a little better, or I can call an ambulance and send you to the hospital for an X-ray on your leg. But you might have to pay for any medical care you receive, and the ambulance ride adds more to the cost."

The medic knows you probably broke your leg and the gauze and lollipop are not going to fix the broken bone, but they've given you options.

You ask for the gauze and lollipop because you don’t know how much it may cost to go to the hospital and you don’t know if you can afford it. You feel a little better for the time being, but you are left sitting on the curb trying to figure out what to do next. The underlying issue hasn’t been addressed and your broken bone will very soon become a bigger problem for you.

As a genetic counselor, encouraging someone to get an at-home DNA test feels like I'm the medic telling you the gauze and lollipop should be fine. This is why I struggle when I see people turning to raw data or a 23andMe test because it's the cheapest option. It’s why I try to speak up when I see advice posted online or in Facebook groups that I’d consider not-the-best-advice.

I understand why people turn to companies like 23andMe and MyHeritage for health reports, or take a DNA raw data file to Promethease or another similar tool. But it is hard for me to sit back when I've seen the difference it makes in the accuracy and completeness of information between those paths and the medical DNA testing paths. 

We live societies that must decide how they will spend resources and right now. The society I live in right now - the United States under the Trump administration - does not value adequate medical care for everyone. It treats individuals as responsible for figuring out their own genetic risks and medical issues, and "tough luck for you" if you don't have access to your family medical history or the ability to pay for a top-quality DNA analysis.

I guess the short answer is that, no, I do not encourage at-home DNA tests for someone looking for medical information, but I understand why people feel like that is their only option and head down that path. 

This is why I set off to do what I do with Watershed DNA and why I work with individual clients and write about my work rather than working for one of the testing companies. I want to help people realize there are differences between DNA tests, and that while there is some to be gained from at-home tests, there are also limitations.

To do this starts with educating people that not all DNA tests are equal. The health reports from 23andMe and MyHeritage can be a start. (I’ve done them myself!) A third-party analysis might give you something to investigate further. (Done those, too!)

But you do not have to settle for an at-home DNA test for medical information simply because it's the cheapest one. Investing in solid information from the right DNA test can be a life-long gift to yourself and your family.

Section 4 of my book The DNA Guide for Adoptees with co-author Shannon Combs-Bennett delves into medical DNA testing, both the at-home and clinical varieties. You might find the book or working individually with me helpful whether you’re an adoptee or not.