Earlier this year, I moderated a panel discussion at our Techonomy Bio event and asked the speakers whether genome sequencing was ready for the average consumer. Their responses were split down the middle. Having just gotten my own genome sequenced, I can say definitively: yes it’s ready, and no it isn’t.
To understand my enthusiasm for getting my genome sequenced, you may need to know a little about me. Shortly after college, I joined a genomic news organization as a reporter—not because I had a particular interest in genomics, but because they were willing to hire me. At the time, the Human Genome Project was in its heyday, and pretty quickly even a non-scientist like me could see that this was something momentous. Over the years, I’ve gotten more and more involved in reporting on genomics and all the discoveries that have followed from that first human genome sequence. But all the while I have wondered what secrets lay hidden in my own DNA.
Screen shot of chromosome 10 data (sequence coverage on top, the red circle underneath is a... [+]
Recently, a consumer-oriented program run by sequencing leader Illumina called Understand Your Genome (UYG) dropped its price to $2,900. The service is run as a clinical test, with a physician acting as intermediary. While Illumina sequences each customer’s genome, it only reports results from about 1,700 genes (out of an estimated 20,000) that have been chosen because we know they can have some use in diagnosis and treatment of disease. The whole process culminates in a day-long event where customers get to explore their genome data. With 15 years of pent-up interest spurring me on, I signed up.
The next part, at least for me, was the hardest: getting a prescription for the genome sequence. Like many healthy people, I don’t have a doctor I see regularly. I called the doctors I’d seen most recently, but they all refused, some saying they “don’t do genomes.” I tried the genetic counselor who helped me get tested for breast cancer risk, and she too declined.
I reached out to a doctor I knew through the genomics community, one of the few physicians who has integrated genome data into his practice. He was familiar with this program and gave me the prescription. But what would a regular consumer have done? Many of my fellow participants at the UYG event came from the genomics community; several of them had gotten prescriptions from colleagues. Some had success with regular physicians, so there is hope for consumers who are persistent enough to keep trying.
Armed with these prescriptions, we submitted our samples for sequencing (for me, that involved convincing the kind folks at the local LabCorp to draw blood for a test they’d never seen before). Results were sent first to the physicians, with whom we were supposed to discuss them, and then unveiled to us at the UYG event through a custom iPad genome browsing app. The full-day event also included speakers from research institutions and Illumina, with genetic counselors presenting an aggregate genomic snapshot of our little group.We were greeted with “I got genomed” buttons, a thumb drive, and personalized plaques made out of the chip that had fed our DNA into the sequencer.
Through participating in UYG, I became a member of a very small community. This was the sixteenth such event (the first to my knowledge that offered this lower price), and had some 40 participants. The UYG program has sequenced a total of about 500 people. A number of speakers mentioned the slower-than-expected uptake of genome sequencing—both in the clinic and among consumers—and an Illumina representative told us that the company had subsidized the cost of our sequence and analysis to help generate interest in personal genomics. While I suspect that cost is still a barrier (until recently the UYG program charged $5,000), the prevailing theory seems to be that people fear they will learn too much. Many people believe, incorrectly, that your genome is a crystal ball that will tell you when and how you’ll die, or any number of other unpleasant things.
Knowing this, I went into the UYG event with low expectations about what I’d learn from my genome. Genomics is still in its infancy; our understanding of what it all means is quite limited. And I’m a healthy adult, so there presumably isn’t anything too scary lurking in my DNA. A genetic counselor from Illumina said that UYG participants’ most common reaction was finding their results boring, and joked that never had people been so disappointed by a clean bill of health.
But even with my expectations in check, the actual results were a snooze. After combing through some 6,000 variants in my DNA, Illumina found that a whopping zero of them were of clinical relevance to my life right now. There were a few findings that may matter down the road: I have a genetic variation that makes me a poor metabolizer of warfarin—useful knowledge should I need blood thinners later in life. And I’m a carrier of several conditions, including one that could offer an explanation for some breathing issues that run in my family. But the one thing I knew about my genome going into the event—that I’m a carrier of a rare kidney disease—wasn’t picked up because the gene harboring that mutation is in a region too complex to be included in this test.
One might think I would be disappointed after 15 years of anticipation, but I’m not. This first glimpse of my DNA was interesting, but it’s what comes next that I’m excited about. Now that I have my sequence, I can submit it to a number of research studies that will use it to contribute to new discoveries about diseases and traits that could make a difference for people around the world. Over time, new ways to analyze the underlying data will emerge and help me learn more about what my genome means. I’ll be able to eventually add other types of information to the data mix as other technologies and tests become available.
Getting your genome sequenced today is the beginning of a journey. If you accept that you might not learn much but are interested in establishing a foundation that you can build on for years, I can’t recommend it highly enough. But if you’re looking for that crystal ball, a genome sequence won’t give you one.
Original article published at Techonomy.com
