Thursday, February 2, 2023

30 years since the start of the human genome project, what is the next step?

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In 1987, when researchers used the word for the first time genomics to describe the newly developed discipline of DNA mapping, Eric Green had just graduated from medical school. A few years later, he found himself working on the front lines of the young field’s lunar cliché: 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.

Sequencing of the entire human genome began the following year, and it took 13 years to complete. Shortly after, in 2009, Green took over as head of the research institute. By this time, NHGRI’s mission had evolved to include the expansion of the field of genomics in medicine. This meant funding and coordinating projects to identify the mutations responsible for genetic disorders, then developing tests to diagnose them and therapies to treat them. And more generally, that meant producing evidence that DNA data could actually improve outcomes, even for people who don’t have rare diseases.

To help chart this course, one of Green’s tasks is to build a strategic vision for the field. Aiming to celebrate advancements, identify technology gaps, and inspire scientists to pursue the most impactful areas of research, his team published his last 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 analyzes at the science fair and genomic tests at the doctor’s office will become as routine as basic blood tests.

Three decades later this sequencing run began, we may have reached the end of the genomics era, a period of explosive technological growth that led to breakthroughs like the sequencing of the first dog, chicken and cancer cells and the advent of cheap home DNA tests. The field has matured to the point that genomics is almost ubiquitous throughout biology – from fight the invading giant hornets at brewing a tastier beer. Genomic medicine is no longer theoretical. But it is not widespread either. Although scientists have mapped the human genome, they do not yet fully understand it. Green spoke to WIRED about what the next decade and the next era of genomics could hold. This interview has been edited for length and clarity.

WIRED: October marked the 30th anniversary of the Human Genome Project. When you look at where we are today, how does that meet the expectations you had regarding 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 that at the time we didn’t know what we were doing. 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 it. We didn’t have the methods. We didn’t even have a working internet. There was no playbook. So, as a young doctor, I could kind of imagine that one day genomics could be part of clinical care. But I really didn’t think that would happen in my lifetime.

If we go back just 10 years, no one was really using genomics in health care. We then fantasized about having a patient in front of us, where we didn’t know what was wrong with them, and being able to sequence their genome and understand it. It was a guess in 2011. Now it’s routine. At least for those suspected of having a rare genetic disease.

It’s incredible. But also, it is still far from part of the hype around what the human genome project was going to accomplish. In his remarks to the White House in 2000, Francis Collins, then director of NHGRI said it would probably take 15 or 20 years to see a “complete transformation of therapeutic medicine,” promising personalized treatments for everything from cancer to mental illness. Obviously, that didn’t exactly happen. Why not?


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