30 years since the human genome project began, what happens?

In 1987, when the researchers first used the word genomics to describe the newly developed DNA mapping discipline, Eric Green had just finished medical school. A few years later, he found himself working on the front lines of the young field’s moon launch: the Human Genome Project. To lead the nation’s participation in the global effort, Congress established the National Human Genomics Research Institute (NHGRI) in 1989.

Sequencing of the entire human genome began the following year and took 13 years to complete. Shortly afterwards, in 2009, Green took the helm of the research institute. By then, NHGRI’s mission had evolved to include expanding the field from genomics to medicine. This meant funding and coordinating projects aimed at identifying the mutations responsible for genetic disorders, 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 outcomes, even for people who do not suffer from rare diseases.

To help chart this course, one of Green’s tasks is to periodically develop a strategic vision for the field. Aiming to celebrate progress, identify technology gaps, and inspire scientists to search for the most impactful areas of research, his team released its latest projection in October. For the first time, Green and colleagues outlined a set of 10 bold predictions about what could be done in human genomics by 2030. Among them: high school students will show genetic analysis at the science fair and genomic tests to the doctor. the office will become as routine as basic blood work.

Three decades after this sequencing race began, we may have reached the end of the first era of genomics, a period of explosive technological growth that led to advances such as the sequencing of the first dog, chicken, and cancer cells. and the emergence of cheap houses. DNA testing. The field has matured to the point that genomics is almost ubiquitous throughout biology, from fighting giant invading evenings to brewing 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 of genomics might have in store. This interview has been edited for length and clarity.

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

Eric Green: I was inside the Human Genome Project from day one and I can’t stress enough how long we didn’t know what we were doing. We had this bold goal of reading the 3 billion letters in the human instruction book, but we didn’t have the technology to do it. We didn’t have the methods. We didn’t even have functional internet. There was no playbook. So as a person who was engaged in this as a young doctor, I could imagine that one day genomics could be part of clinical care. But I really didn’t think it would happen in my life.

If we go back only ten years, no one really used genomics in healthcare. Then we fantasized about the idea of ​​having a patient in front of us, where we didn’t know what was happening to them and being able to sequence their genome and find out. It was a hypothetical one in 2011. It is now routine. At least for people suspected of having a rare genetic disease.

This is awesome. But besides, it’s still a long way off part of the drum around what the Human Genome Project was going to carry out. In his statements to the White House in 2000, the then director of NHGRI, Francis Collins he 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. Viouslybviamente, this has not been done exactly. Why not?

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