In 1987, then researchers used the word for the first time genomics To describe the newly developed discipline of DNA mapping, Eric Green had just completed his medical training. A few years later, he found himself working on the front lines of the big lunar photo of the young field: the Human Genome Project. To guide the country’s participation in the global effort, Congress established the National Human Genomics Research Institute, or NHGRI, in 1989.
Sequencing of the entire human genome began the following year and took 13 years to complete. Not long after, in 2009, Green took over the helm of the research institute. By this time, NHGRI’s mission had evolved to expand the field from genomics to medicine. That meant funding and coordinating projects aimed at detecting the mutations responsible for genetic disorders, and then developing tests to diagnose them and therapies to treat them. And more broadly, it meant generating evidence that DNA data could effectively improve results, even for people who don’t have rare diseases.
To help chart that course, one of Green’s tasks is to periodically draw up a strategic vision for the field. Aimed at celebrating progress, identifying technology gaps and inspiring scientists to pursue the most impactful areas of research, his team released the final projection in October. For the first time, Green and his colleagues outlined a series of 10 bold predictions of what could be realized in human genomics by the year 2030. Among them: High school students will show off genetic analyzes at the science fair and genomic tests at the doctor’s. office will become as routine as basic blood tests.
Three decades after that sequencing race began, we may have reached the end of the early genomics era, a period of explosive technological growth that led to breakthroughs such as the sequencing of the first canine, chicken and cancer cells and the advent of cheap houses DNA testing. The field has matured to such an extent that genomics is almost ubiquitous throughout biology – from controlling invasive giant hornets to brewing better tasting beer. Genomic medicine is no longer theoretical. But it is also not widespread. Although scientists have mapped the human genome, they don’t fully understand it yet. Green spoke to WIRED about what the next decade and the next era could hold in genomics. This interview has been edited for length and clarity.
WIRED: October marked the 30th anniversary of the Human Genome Project. If you look around where we are now, how does it meet the expectations you had about the impact the project would have on medicine?
Eric Green: I was in the Human Genome Project from day one and I can’t stress enough that we didn’t know what we were doing back then. We had this big bold goal of reading the 3 billion letters of the human instruction book, but we didn’t have the technology to do that. We didn’t have the methods. We didn’t even have a functional internet. There was no playbook. So, as someone who started this as a young doctor, I kind of imagined that genomics could one day be a part of clinical care. But I really didn’t think it would happen in my lifetime.
If we go back 10 years, nobody really used genomics in healthcare. We fantasized then about the idea of having a patient before us that we didn’t know what was going on with them, and being able to sequence their genome and find out. That was hypothetical in 2011. Now it’s routine. At least for people suspected of having a rare genetic disease.
That is amazing. But it is also still far away part of the hype around what the Human Genome Project would accomplish. In his remarks to the White House in 2000, then NHGRI director Francis Collins said it would probably take 15 or 20 years to see a “complete transformation in therapeutic medicine”, with promising tailor-made treatments for everything from cancer to mental illness. Obviously that has not happened. Why not?