Here in the U.S., if you want to get health information from your direct-to-consumer (DTC) genetic test, you need to use an online resource like Promethease. The same is no longer true in Canada and the U.K. Their regulatory authorities have given the genetic testing company 23andMe the green light to start offering them health-based results like they used to for American consumers.
A big reason why the FDA forbade 23andMe from releasing health data was that they felt that 23andMe was overselling their product. And for some health issues, they were probably right.
It looks like 23andMe got approval in the U.K. and Canada by only reporting on the subset of genetic conditions and traits that had a solid, well-understood genetic foundation. This is why they offer the results for just over 100 genetic conditions and traits in these two countries instead of the 260 or so that were offered in the U.S. 23andMe also stresses more obviously that their test is for informational and not diagnostic purposes. These two changes seem to have put them back onto the path of acceptability for regulatory agencies in the U.K. and Canada.
If 23andMe had offered only this subset of tests when they started out, there might have been less blowback from the FDA. They might still be offering important health information to their customers in the U.S.
Of course, hindsight is 20/20. 23andMe was (is) a pioneer in the field and is still at the forefront of DTC genetic testing. They had no roadmap for what they were doing which means there were going to be bumps along the way. If the new services are anything to go by, it looks like they are learning from their mistakes.
But one concern is that they may be learning the wrong lesson. It may be that presenting all of their original findings differently could be just as safe as the stripped down version and provide additional information. Customers could have had their solid information and their more ephemeral information too.
The Plusses and Minuses of the New Information
As I said, 23andMe probably oversold what they offered in the U.S. But by preventing any health information at all from being released, the FDA threw the baby out with the bath water.
There was a lot of good, solid information in these tests that could really help people in their day to day lives. This is the information now available to people in the U.K. and Canada but not in the U.S.
For example, without DTC genetic tests, it can be a real pain to figure out if you are a carrier for a disease like cystic fibrosis or hemochromatosis. At the very least you need a doctor’s appointment and for many of the more rare diseases, you probably need a family history to justify the test. Either that or you will probably have to pay the high out of pocket expense.
It is much easier with one of these DTC tests. You just spend $99, spit in a vial, and wait for your results.
This kind of information can be very helpful for couples considering having children. If the test shows that both parents are carriers for one of these recessive diseases, then each of their kids would have a 1 in 4 chance of ending up with the disease. Even if the odds are against this, it is still definitely important information to have!
This is just one example of the kind of test that can give results you can use. They can also give you important information about your risks for diseases like breast cancer (think Angelina Jolie) and help doctors get your prescription dosage right, just to name a couple. These are no longer easily obtainable by U.S. customers.
Of course, a DTC test is not necessarily equivalent to the one you get from a doctor. Often (but not always) the doctor’s test comes with explanations that can help someone decide whether the result matters, whether more testing is warranted and so on. And of course the DTC test needs to be reliable for it to be meaningful.
This is the other point the FDA made in their ruling. They need for each of the hundreds of health-based tests that 23andMe offers to be solid enough for customers to make an informed decision based on the results. It is obviously critical that this be true for people to make important decisions based on the data and the FDA should make sure the tests are reliable.
What the new information available to customers in Canada and the U.K. is lacking are the more speculative findings. Which is too bad.
It is kind of fun to be at the forefront of the genetic revolution using your own data. I like seeing what the most recent research has to say about something like Type 2 diabetes (which runs in my family) and getting it written up for me in terms of my genetic information is a fun way to learn. And this works for me because as a geneticist, I know that any genetic results for Type 2 diabetes being offered right now aren’t really worth much.
Which is why companies like 23andMe should probably have flagged these sorts of results as speculative from the get go. Don’t put them in the same list as the 100 or so conditions that are more definitive. Don’t use bar graphs to show a customer’s risk as that makes it seem more real than it is.
Conditions like Type 2 diabetes should be binned together in a section where the company comes out and says that these results don’t mean a lot because we are just starting to understand the genetic basis of these diseases. They would also need to mention that even a complete genetic understanding of any of these conditions wouldn’t be the whole picture since the environment plays a big role too.
Reorganizing the information would give more value to the customer. They would get solid advice for some conditions like customers can now get in the U.K. and Canada and still get to find out where science is on the others. A win-win for customers, doctors and the FDA.