Have you ever wondered about the genetic material that makes you, well, you? Have you wished to see a full blueprint of your DNA?
I have. On Monday, October 5 in Baltimore, I had the unusual opportunity to see it for the first time. My wife and I, along with 38 other attendees at the "Understand your Genome" symposium, had our genome, or complete set of DNA, sequenced. For $2,900, one blood draw and a two-month waiting period, it was done. All 3 billion base pairs became accessible. It is hard to believe that just over two decades ago, it took 10 years and $2.7 billion to sequence the first genome!
My wife and I are both scientists by training. During my doctoral graduate studies, a central part of my research relied on genomics technologies as my colleagues and I tried to identify whether a specific gene was implicated in schizophrenia. We focused on a protein involved in neuronal plasticity, and looked at a small handful of single nucleotide polymorphisms, or SNPs. These small variations are part of what make us unique. Each of our genomes has 3-4 millions of them, and many have been characterized. They can be associated with anything from eye color to cancer risk; this is important knowledge and when given the chance, we wanted to know ours.
Sifting through the genome app on an iPad, I was disappointed to realize that my genome is fairly boring. Surely, I thought going into it, I will learn something critical, something that will affect my behavior. But that was not the case. Of course, I did learn a few interesting nuggets about myself, like my ability to metabolize various drugs, my lack of ApoE4 variants that would put me at increased risk for Alzheimer's disease, and the fact that I can easily digest cheese -- that last point is not very surprising given that I grew up in Switzerland. At a high level, my wife's genome is equally boring, but she is still looking.
Why did we do it? After all, it is still expensive and we're both in good health. We exercise, and have a healthy diet; especially her. So why?
In addition to, first of all, our interest as scientists, a second reason is that we wanted to contribute to the genomic revolution. Just like the Internet, the value in genomics resides in the number of its participants, and the value of each individual genome increases as we sequence (and make sense of) more genomes. Most diseases are complex, and involve multiple genes, epigenetic variations, environmental factors, etc. In order to get a better picture of human in health and disease, we will need millions of genomes. This is why large initiative such as the UK 100K genome project or U.S. precision medicine initiative are critical.
Sooner or later, we will shift from population-based medicine to personalized medicine for most medical conditions, and genomics will be front and center in this conversion. We are already starting to see this. For example, BRCA mutations gives patients the choice to have preventive surgery or at least be under-enhanced surveillance. Of course, a complete picture will also require multiple other inputs including proteomics, metabolomics, and medical history.
A third reason we did the sequencing is we believe and want to participate in the consumerization of health care. Many companies offer the opportunity for patients to be empowered and engaged in their own health. Getting your genome sequence is yet another step. Ultimately, each of these steps will enable people to deal with wellness, as opposed to illness. You need to be in charge of your own heath if you want to stay healthy.
Pundits have argued that consumers should not have access to their own genomic data, and that diagnostic results need to be interpreted in medical settings, as uninformed patients may panic and request additional unnecessary diagnostics tests at a time when health care costs are skyrocketing. Surely, there are many examples of poor choices one may make based on this information as our understanding of it is still in its infancy. For example, a patient may be more inclined to attempt suicide if already depressed, and learning that he is the carrier of genes implicated in Alzheimer's disease.
However, in my opinion, institutions should not come in the way of individual knowledge; it's your genome and you have the right to know. The fact is, people could make poor choices with a bottle of gin or a gun, yet, both are widely available. As mentioned at the symposium, innovation is not always met with excitement; it is often met with fear.
While my genome is boring, I am ecstatic about having access to it. Experts in this space believe that within the next 3 years or sooner, more than 1 million people will have their entire genome sequenced, too. The price will continue to go down, and these sequencing programs will be increasingly accessible. This is important as the more sequence we have, the more we can understand the data. So your genome has a meaning to you, your family, and the society at large. My wife and I did our part; if you have the means and interest, I hope you will join us!