The Human Genome at 10: What It Did—and Didn’t—Deliver
Happy Birthday, human genome. On June 26, 2000 a group of scientists at the White House announced that they had a working draft of our genetic blueprints. They hadn’t sequenced all our genes; the Human Genome Project and its private-sector competitor Celera Genomics still had some gaps to fill in. Still, scientists believed this data might hold clues to the causes of certain diseases and could lead to new treatments.
Even before the project’s start, some scientists were skeptical: Was mapping our genome a waste of money and time? Even among public hoopla and presidential speeches, scientists cautioned that applying the results would take time. Now, ten years later, many are asking: What have we learned? Here we round up some opinions about the impact of the project.
Some see fewer medical treatments than advertised. Instead of simple relationships between common variants and specific diseases, sequencing uncovered sheer complexity. Researchers now think that intricate relationships between rare variants may cause many diseases.
The difficulties were made clear in articles by Nicholas Wade and Andrew Pollack in The Times this month. One recent study found that some 100 genetic variants that had been statistically linked to heart disease had no value in predicting who would get the disease among 19,000 women who had been followed for 12 years. The old-fashioned method of taking a family history was a better guide. Meanwhile, the drug industry has yet to find the cornucopia of new drugs once predicted and is bogged down in a surfeit of information about potential targets for their medicines. [The New York Times]
As genetic sequencing goes, what once took years and millions of dollars can now take months and thousands. Still, some worry that the drive to sequence more, faster has led to techniques that make reading results increasingly hard.
The advances in speed … have come at a cost. Only short stretches of DNA can be sequenced at a time, so the pieces have to be joined together by looking for overlaps between them. While early instruments sequenced pieces up to 900 base pairs long, most high-speed machines produce “reads” of less than 100 base pairs. That means the overlaps are much shorter, making it far harder to join the pieces together, so assemblers use existing genomes as a guide — which can lead to mistakes. [New Scientist]
Though the Human Genome Project may have thus far yielded fewer advanced medical treatments than hoped for, the findings for biologists seem greater than expected. The complexity that frustrated those looking for practical, clinical applications has led to rich veins of research.
Nature News surveyed more than 1,000 life scientists, many who said that the sequenced genome had greatly benefited their work:
Almost all biologists surveyed have been influenced in some way by the availability of the human genome sequence. A whopping 69% of those who responded to Nature ’s poll say that the human genome projects inspired them either to become a scientist or to change the direction of their research. Some 90% say that their own research has benefited from the sequencing of human genomes — with 46% saying that it has done so “significantly”. And almost one-third use the sequence “almost daily” in their research. “For young researchers like me it’s hard to imagine how biologists managed without it,” wrote one scientist. [Nature News]
Some also praise the accessibility of genomic data from this research as a means to advance further research–among them, Francis Collins, current NIH director and former head of the Human Genome Project.
“For example, the search for the cystic fibrosis gene finally succeeded in 1989 after years of effort by my lab and several others, at an estimated cost of U.S. $50 million,” Collins writes in an opinion piece published in this week’s issue of the journal Nature. “Such a project could now be accomplished in a few days by a good graduate student. … ,” he writes. All the budding geneticist needs, Collins says, is the Internet, some inexpensive chemicals, a thermal cycling machine to amplify specific DNA segments, and access to a DNA sequencer, which “reads” DNA via light signals. [National Geographic]
Nature News‘ poll also hints that scientists believe that a better understanding of the underpinnings of human genetics, better systems to analyze the sequenced data, and more information from other research like the Human Epigenome Project will help turn this biological knowledge into clinical applications–some argue within the next 10 to 15 years.
Others say we can only wait and see. That’s what Eric S. Lander, director of the Broad Institute, told The New York Times regarding a direct connection between sequencing and treatments.
“The only intellectually honest answer is that there’s no way to know,” Dr. Lander said. “One can prefer to be an optimist or a pessimist, but the best approach is to be an empiricist.” [The New York Times]
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