In 1987, then researchers used the word for the first time genomics to describe the newly evolving discipline of DNA mapping, Eric Green had just completed medical school. A few years later he was working on the front lines of the tent’s moon shot of the young field: the Human Genome Project. To lead the country’s participation in the global effort, Congress established the National Human Genomics Research Institute, or NHGRI, in 1989.
The sequencing of the entire human genome began the following year and it took 13 years to complete. Not long after that, in 2009, Green took over the leadership of the research institute. By that time, the mission of NHGRI had evolved to expand the field of genomics in medicine. This means funding and coordinating projects aimed at identifying the mutations responsible for genetic disorders, then developing tests to diagnose them and therapies to treat them. And even wider, this means that evidence is being generated that DNA data can effectively improve outcomes, even for people who do not suffer from rare diseases.
Mapping the course is one of Green’s tasks to put together a strategic vision for the field from time to time. With the goal of celebrating progress, identifying technological gaps and inspiring scientists to pursue the most effective research areas, his team published the latest projection in October. For the first time, Green and his colleagues have put forward a set of ten bold predictions about what will come true in human genomics by 2030. Among them: high school students will show genetic analyzes at the scientific fair, and genomic testing at the doctor’s office will become as routine as basic blood work.
Three decades after the 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 dog, chicken and cancer cells and the advent of cheap home DNA tests. The field has aged to the point that genomics is almost ubiquitous in all of biology – from the fight against invasive giant horns to the brewing of better beer. Genomic medicine is no longer theoretical. But it is also not widespread. Although scientists have mapped the human genome, they do not yet fully understand it. Green spoke to WIRED about the next decade and the next era in genomics. This interview has been edited for length and clarity.
WIRED: October was the 30th anniversary of the Human Genome Project. If you look around at where we are today, how does it live up to the expectations you had for the impact the project would have on medicine?
Eric Green: I was inside the Human Genome Project from day one, and I can not stress enough how we did not know what we were doing at the time. We had this big cheeky goal of reading the 3 billion letters of the human instruction book, but we did not have the technology to do so. We did not have the methods. We did not even have a functional internet. There was no playbook. So, as someone who experienced this as a young physician, I could imagine that genomics could one day be part of clinical care. But I really did not think it would happen in my lifetime.
If we only go back ten years, no one really uses genomics in healthcare. We then fantasized about the idea of having a patient in front of us, where we do not know what is wrong with them, and being able to sequence their genome and find out. It was hypothetical in 2011. Now it’s routine. At least for people who presumably have a rare genetic disease.
It’s amazing. But also, it’s still far from some of the hype around what the Human Genome Project is going to achieve. In his remarks at the White House in 2000, the then director of the NHGRI, Francis Collins said it would probably take 15 or 20 years to see a “complete transformation in therapeutic medicine”, which promises personalized treatments for everything from cancer to mental illness. Clearly, this did not happen exactly. Why not?