In 1987, when the researchers first used the word genome to describe the new discipline of DNA mapping, Eric Green had just graduated from medical school. A few years later, he found himself working on the first lines of the young moon of the field: The Human Genome Project. To lead the nation’s participation in the global effort, Congress established the National Research Institute for Human Genomics (NHGRI) in 1989.
Sequencing of the entire human genome began the following year and lasted 13 years. Not long after, in 2009, Green took over the leadership of the research institute. By then, NHGRI’s mission had evolved to include expanding the field of genomics into medicine. This meant funding and coordinating projects aimed at identifying 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 outcomes, even for people who do not suffer from rare diseases.
To help develop this course, one of Green’s tasks is to periodically develop a strategic vision for the field. Designed to celebrate progress, identify technological gaps and inspire scientists to pursue the most impactful areas of research, its team released its latest screening in October. For the first time, Green and his colleagues presented a set of 10 bold predictions about what could be achieved in human genomics by 2030. Among them: high school students will present genetic analysis at the science fair and genomic tests at the doctor. the office will become as ordinary as blood.
Three decades after the sequencing race began, we probably reached the end of the first genomic era, a period of explosive technological growth that led to discoveries such as the sequencing of the first dog, chicken and cancer cells and the emergence of the cheap house. DNA tests. The field has matured to the point where genomics is almost ubiquitous throughout biology – from fighting invasive giant wasps to making better-tasting beer. Genomic medicine is no longer theoretical. But it is not widespread either. Although scientists have mapped the human genome, they still do not fully understand it. Green spoke with WIRED about what the next decade and the next era in genomics might have in store. This interview was edited for length and clarity.
Cable: October marked 30 years since the human genome project. When you look around where we are today, how does it rise to the level of expectations you had on the impact that the project would have on medicine?
Eric Green: I was in the Human Genome Project from day one and I can’t stress enough how much I didn’t know what we were doing. I had this bold goal of reading the 3 billion letters of the human instruction book, but I didn’t have the technology to do it. I didn’t have the methods. I didn’t even have a working internet. There is no playing card. So, as someone who got into this as a young doctor, I could imagine that genomics could one day be part of clinical care. But I really didn’t think it would happen in my life.
If we go back only 10 years ago, no one really used genomics in health care. We then fantasized about the idea of having a patient in front of us, in which we did not know what was wrong with them and to be able to sequence their genome and discover it. It was a hypothetical one in 2011. Now it’s a routine. At least for people suspected of having a rare genetic disease.
That’s amazing. But it is also still far away part of the hype around what the Human Genome Project was going to accomplish. In his remarks to the White House in 2000, the then director of NHGRI, Francis Collins said it would probably last 15 or 20 years to see a “complete transformation into therapeutic medicine”, promising personalized treatments for everything from cancer to mental illness. Obviously, that’s not exactly what happened. Why not?