It might look like any other dreary April to you, but this month marks the 15th anniversary of the completion of the Human Genome Project. This time in 2003, scientists were getting their first good look at the DNA code that makes us human — the first time any organism on this planet ever got such a view of itself.
With hundreds of thousands of human genomes now analyzed, it’s hard to remember that scientists once seriously questioned whether there was any merit in sequencing that first human genome. Before the project was launched, some highly respected scientists made the case that dedicating $3 billion to this one goal could derail many worthy research projects that would lose funding as a consequence — a price they thought too high. A decade after the project concluded, a report calculated that the Human Genome Project had, by then, fueled $1 trillion in financial benefits to the U.S. economy.
But those benefits didn’t stop the naysaying. Around the same time as that report, many pundits were again challenging the value of the project, arguing that it didn’t achieve its promise. After all, the overarching goal of the project, to improve healthcare by better understanding biology and tailoring treatment to any individual, had not been fully realized. It still hasn’t, and will not be for a long time. But we are much closer to the goal today than we could have been otherwise.
I have been part of the genomics community long enough to remember those final days of the project, when scientists were frantically polishing pieces of the genome sequence to make sure it would be ready for its big reveal. The progress that has occurred since then has been astonishing. Here are a few of the ongoing benefits:
- Innovation in sequencing technologies. One of the eye-opening lessons from the project was that genomics would never reach mainstream use if it depended on the slow, laborious sequencing tools used in the ’90s and early ’00s. Between the NIH and venture capital firms, hundreds of millions of dollars were funneled to teams around the world to develop entirely new ways to read DNA. Ingenious methods incorporated magnets, lasers, chemistry, electricity, or other elements. Today, there are several different types of DNA sequencers on the market, with more in development. Collectively they have driven the cost of sequencing down at a pace that makes Moore’s Law look positively glacial. These platforms have made consumer genomics possible. And what was once a pipe dream — the idea of a handheld sequencer that could be used in real-time during a patient’s visit at a doctor’s office — now seems inevitable.
- The beginnings of precision medicine. While precision medicine is not available for all medical conditions and all patients, the areas where tailoring medicine based on a person’s DNA is possible are already offering major advantages. Children with rare diseases would normally spend years undergoing diagnostic odysseys in the hopes of figuring out the cause of their conditions; now, rapid sequencing is being done at some hospitals as early as possible to find a diagnosis. Sequencing doesn’t provide an answer for all cases, but it has dramatically improved the rate of success. In cancer, patients’ tumors are now routinely scanned for telltale DNA signals that suggest which treatment might be most effective or how the cancer is likely to develop.
- A better understanding of all organisms. The technical know-how gleaned from slogging through that first human genome made it possible for the community to tackle myriad other species. Everything from advances in agriculture to conservation genomics to tracking infectious disease outbreaks has gotten a boost from the methods honed and lessons learned from the Human Genome Project. For example, we had to deal with the psychological affront that the number of genes in a genome or size of a genome didn’t correlate with organism complexity: As scientists determined by 2003, humans have fewer genes than many plants. Just recently, researchers reported the genome sequence of a little salamander that has a genome 10 times larger than ours. The genomics community sought to explain uncovering new elements in the genome that contribute to complexity, like regulatory systems that turn genes on and off at key times or splicing functions that let one gene perform different tasks. These discoveries have helped make sense of genome biology across all species.
