In 2003, the Human Genome Project, a collaborative research effort to map the entire genetic code for human beings, was complete. While researchers assumed humans had somewhere between 50,000 and 140,000 genes, it turned out we had just 20,500 — and that we shared 60% of them with bananas.
It was known then that this massive undertaking — described as the genomic equivalent of sending Apollo to the moon — could have great health benefits. Francis Collins, then director of the National Human Genome Research Institute, said of the genome, “It’s a history book — a narrative of the journey of our species through time. It’s a shop manual, with an incredibly detailed blueprint for building every human cell. And it’s a transformative textbook of medicine, with insights that will give health care providers immense new powers to treat, prevent and cure disease.”
While Collins vision was prescient, no one could have predicted the development of direct-to-consumer DNA testing, nor its dramatic rise in popularity. Yet by now, that Ancestry.com, 23andMe and others are testing millions of Americans (12 million as of 2017) is not news — what is news is what these companies are doing with the data and what they could.
But before we go there, let’s address a few known issues: privacy and accuracy.
I’ll be honest — I kind of throw my hands up in the air when it comes to privacy. Is that something we can really count on anymore? Our phones know where we are. Cambridge Analytica thought our data was worth $1 million. And we out ourselves on social media all the time. That said, I realize that ethics play a role here, and you wouldn’t want your genetic code shared without your consent. Which is why, when you sign up for one of these services, you have a whole bunch of paperwork to fill out, including whether they have your permission to anonymize your data and share it with pharmaceutical companies hoping to use the genetic code to develop effective drugs. Most notably, 23andMe signed a $300 million exclusive partnership with GlaxoSmithKline this July. Not only do I not mind the idea of companies using my code for drug target discovery, I’m actually happy to help — and so is my mom. When I did a BRCA1/BRCA2 test, which looks at the probability of breast and ovarian cancer, it revealed that I had a rare genetic sequence, and they asked if my mother would take the test as well in order to show that this particular sequence doesn’t mean you need to have a double mastectomy. She was on board because she knew it could help me and possibly many other women. Thanks to my mother’s contribution, the rare genetic sequence shifted from something unfamiliar to something more tangible.
That said, I know that the concern is that the information would get out and somehow be used against you. There are a few highly publicized cases of de-anonymizing genetic data in order to identify individuals under investigation. While that’s worrying, I have to think that the aggregate data is super powerful; there’s so much you can learn about patterns of millions people.
So, let’s stick to the science — is it really helpful enough yet? That brings us back to the second concern: accuracy. Numerous reports have shown that you can get totally different results from different companies, because those companies have different algorithms and different data sets to compare your code against. People of non-European descent have a notoriously difficult time getting accurate results because their comparative data sets are so small. As the DNA-testing services usually state, what they offer is privatized or recreational science, meaning that the methods are not peer-reviewed and therefore lack the rigor that scientific testing usually undergoes. That said, if we really couldn’t count on the results at all, would GSK be pouring hundreds of millions into 23andMe? I doubt it.
What I’d like to see is a way to use this data set in order to get proactive about wellness and health. Right now, I look at my 23andMe and I honestly don’t know what to do with it. According to the results, there’s a bunch of stuff I’m prone to but it doesn’t feel very actionable.
Here’s the future I’m envisioning: you get your results, and you set up an appointment with someone who knows your health history and is trained in translating your results to you. Maybe this is your general practitioner, maybe not. With the rise of telemedicine, this could easily happen virtually. Then you match this data with your history along with social determinants of health to create a holistic picture. And from there you decide — together — what behaviors you should adopt for optimum wellness. Wouldn’t that be something? And should we expect any less?
Brief aside: I’ve become so tired of apps and articles telling me to do yoga. I’m sure yoga is good for everyone, but this suggestion isn’t just relevant to me. What I am looking for are not generalized recommendations but ones specific to my experience — my history, my habits and my genetic code. Because we now have access to valuable information from our DNA, there is real possibility here. I hope we capitalize on it.