30 years since the beginning of the Human Genome Project, what next?

In 1987, when researchers first used the word genomics to describe the newly developed DNA mapping discipline, Eric Green had just completed medical school. A few years later, he found himself working on the front line of the young field’s lunar marquee: the Human Genome Project. To lead the nation’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 took 13 years to complete. Shortly thereafter, in 2009, Green took over as head of the research institute. Until then, the NHGRI’s mission had evolved to include expanding the field from genomics to medicine. This meant financing and coordinating projects with the aim of identifying the mutations responsible for genetic diseases and then developing tests to diagnose them and therapies to treat them. And, even more broadly, it meant generating evidence that DNA data could effectively improve results, even for people who do not suffer from rare diseases.

To help design this course, one of Green’s tasks is to periodically develop a strategic vision for the field. With the aim of celebrating progress, identifying technological gaps and inspiring scientists to pursue the most impactful areas of research, his team published its latest projection in October. For the first time, Green and his colleagues outlined a set of 10 bold predictions about what can be accomplished in human genomics by the year 2030. Among them: High school students will exhibit genetic analysis at the science fair and genomic tests at the doctor’s office office will become as routine as the basic blood test.

Three decades after the start of the sequencing race, we may have reached the end of the era of early genomics, a period of explosive technological growth that has led to advances such as the sequencing of the first dog, chicken and cancer cells and the advent of the cheap home. DNA. The field has matured to the point that genomics is almost ubiquitous throughout biology – from combating invasive giant wasps to making better-tasting beers. Genomic medicine is no longer theoretical. But it is also not widespread. Although scientists have mapped the human genome, they have not yet fully understood it. Green talked to WIRED about what the next decade, and the next era in genomics, may have in store. This interview was edited in its length and clarity.

WIRED: October marked the 30th anniversary of the Human Genome Project. When you look around where we are today, how does that match your expectations about the impacts that the project would have on medicine?

Eric Green: I’ve been on the Human Genome Project since day one, and I can’t emphasize enough how we didn’t know what we were doing at the time. We had this great and audacious goal of reading the 3 billion letters in the human instruction book, but we didn’t have the technology for that. We didn’t have the methods. We didn’t even have a functional internet. There was no manual. So, as someone who started this when he was a young doctor, I could imagine that one day genomics could be part of clinical treatment. But I didn’t really think it would happen in my life.

If we only go back 10 years, no one was really using genomics in healthcare. We then fantasized about the idea of ​​having a patient in front of us, where we didn’t know what was wrong with him, and being able to sequence his genome and discover it. This was hypothetical in 2011. It is now routine. At least for people suspected of having a rare genetic disease.

This is amazing. But also, it is still a long way from a little bit of hype around what the Human Genome Project would accomplish. In his comments 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”, promising personalized treatments for everything from cancer to mental illness. Obviously, this did not happen exactly. Why not?

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