Assessing the first 10 years of the human genome era
This year marks the 10th anniversary of one of the greatest achievements in science: the sequencing of the human genome. On June 25, 2000, two teams – one funded by the U.S. government, the other headed by an independent maverick – jointly announced that they had completed a first draft of all the As, Cs, Gs and Ts in human DNA.
It would still take another year of analysis to estimate that the 3.1 billion letters contain instructions for making 30,000 to 35,000 genes (those figures were later reduced by 10,000) and two additional years for the “complete” genome to be finished. But with the first draft in hand, then-President Clinton proclaimed that humankind was "on the verge of gaining immense, new power to heal.”
As Dr. Francis Collins, the leader of the government-funded team, says in an opinion piece published in Thursday’s special edition of the journal Nature, “Wisely, the president did not attach timetables to his bold predictions.” Andm indeed, that vision is still a long way off.
Collins himself made a PowerPoint presentation with his own predictions for the first decade of post-genome medicine. A scrupulous keeper of all his PowerPoint files, he was able to dig it up and share with the world his predictions for 2010:
- Predictive genetic tests will be available for a dozen conditions
- Interventions to reduce risk will be available for several of these
- Many primary-care providers will begin to practice genetic medicine
- Preimplantation genetic diagnosis will be widely available, and its limits will be fiercely debated
- A ban on genetic discrimination will be in place in the United States
- Access to genetic medicine will remain inequitable, especially in the developing world
All of these have turned out to be true (though he failed to include a prediction that he would become director of the National Institutes of Health). But looking at the big picture, Collins writes, “it is fair to say that the Human Genome Project has not yet directly affected the health care of most individuals.”
That will change soon, writes J. Craig Venter, who spearheaded the rival genome sequencing project.
Venter’s company, Celera, spurred the private sector to develop faster and cheaper sequencing machines. As he writes in Nature, the sequencer he used in his NIH lab in 1987 could decode 4,800 base pairs per day. Today, a company called Life Technologies in Carlsbad sells a machine that can produce 100 billion base pairs per day.
With all that sequencing power available, Venter writes that the new goal is not to produce a personal genome for everyone, it’s to have multiple genomes per person. For instance, sequencing of sperm and egg cells could make for healthier babies, and the sequencing of cancer cells will help to target treatments. Even the millions of bacteria that live on and in our bodies should be sequenced, he writes: “The genome revolution is only just beginning.”
-- Karen Kaplan
Photo: Craig Venter and Francis Collins announced the completion of a “working draft” of a human genome at the White House on June 26, 2000. Both assessed the effect of the Human Genome Project 10 years later. Credit: Joyce Naltchayan / AFP/Getty Images