Human Genome Project

Steve Jobs, a founder of Apple Computer, gave what many consider the greatest college commencement speech ever at Stanford University in 2005. In the speech he explained why it is impossible to predict the future, using his own experiences as examples. You have to trust, he told the graduates, that what you do will make sense in time. “You cannot connect the dots looking forward,” he said. “You can only connect them looking backward.”

That’s true in life, but it may be doubly true in science. Discoveries are made and breakthroughs achieved, but only with the passage of time is their true importance understood. Take the space race of the 1960s. Putting humans on the moon was a great achievement. But from all that was learned along the way has come a flood of improvements in technology and communication that have touched nearly every person on earth. Small example: We wouldn’t have global positioning technology today (the thing that powers the turn-by-turn directions on your smartphone) were it not for the government-funded space race.

This is why we may look back in a similar way one day on another great scientific breakthrough led by the federal government, the Human Genome Project. What might come from it? It’s impossible to say because, as Jobs pointed out, you can’t connect the dots looking forward. But scientists believe it will be seen as an achievement on the scale of the space race.

Never heard of the Human Genome Project? That’s understandable. When its great breakthrough was announced on April 14, 2003, it didn’t come with the unforgettable image of humans walking on the moon. Rather, it was announced at a press conference at the National Institutes of Health in Washington, D.C.

And what was the breakthrough? That the Human Genome Project, launched by the federal government in 1990 and including a broad consortium of universities and labs around the world, had successfully mapped all the genes that make up the human body. “We have before us the instruction set that carries each of us from the one-cell egg through adulthood to the grave,’’ one scientist explained that day to reporters.

It promised then—and still does—to change disease research and treatments in profound ways, much as germ theory in the 1800s changed how doctors and scientists treated and prevented infections. How? By learning the genes that make people vulnerable to diseases, scientists can create therapies tailored to each individual and perhaps even repair the DNA causing the predisposition.

These things lie mostly in the future. But recently we got a taste of what the Human Genome Project made possible, which was the remarkable speed by which vaccines were created for Covid-19. The vaccines themselves did not come directly from research into the genome, but they were facilitated by the technological developments and collaborative research structures that the project created.

So how did the federal government get involved in this scientific breakthrough, and what was its role?

First, some background: Gene mapping, in one form or another, goes back to 1911 when researches figured out that color blindness in humans has a connection to the X chromosome. A major breakthrough came in 1953 when a pair of scientists (one in America, the other in Britain) published a paper describing the structure of DNA, the molecule that contains human genes.

There were steady advances in understanding genetic structure. But something was missing: a complete map of human genes, which is called a genome. (Bit of scientific background: Every person’s genetic makeup is different, but only in the tiniest ways. Depending on who’s doing the counting, every person in the world shares between 99.5 and 99.9 percent of the same genes. These tiny variations determine the gender, height, skin color, body type, and propensity to disease of the individual. So if you have a map of one person’s genes, you can compare it with others.)

Problem is, there are about 20,500 genes in the genome. Without a single authority directing the research, one with an understanding of the science and the technical ability to map the results, scientists around the world were lost in the maze.

It’s an interesting problem. So how did this become a government problem? Because one federal agency had a great deal of interest in understanding human genetics, the U.S. Department of Energy. Why? Because the Energy Department is among the agencies charged with safeguarding Americans from nuclear accidents (something we wrote about in an earlier entry). If a nuclear accident were to occur, it may have a serious long-term impact on human genes. But how would we know that impact, if we didn’t have something to compare to the victims’ genetic structures?

In the 1980s, the Energy Department partnered with the National Institutes of Health, which is a scientific grant-making agency, in proposing a solution to Congress and President George H.W. Bush: Let the federal government take charge of this great scientific effort. Using the NIH’s grant-making expertise and the Energy Department’s knowledge of genetic research, the federal government could fund much of the research, collect the findings, and when the genome project was finished, make all its research available to every scientist and doctor in the world, free of charge.

When it was launched in 1990, government officials estimated it would take 15 years to complete. The first complete map of the human genome was completed two years early. Estimates in 1990 were that the government would spend $3 billion; it spent $2.7 billion in 1991 dollars. Translation: Earlier than promised and under budget.

As Steve Jobs might have reminded us, sometimes you do important things on faith that, in ways you cannot foresee, they will bring benefits. This will almost surely be the case with the Human Genome Project.

But some things are already clear: When the world’s scientific community needed a vital partner, someone with the credibility, steadfastness, scale, expertise, and technical ability to direct and manage one of the greatest scientific breakthroughs of our time, they turned to the United States government. Not to private industry or nonprofits. Not to wealthy benefactors. Not even to a powerful university.

And what did government ask in return? Only that the results be available openly and at no cost to researchers and scientists everywhere, for the benefit of everyone on earth.

Think about it: What other institution or organization would do so much good, be so effective in its work, and ask so little in return? Answer: no other. And for the indispensable role it was willing to play on behalf of human progress, you can thank government.

More information:

https://www.genome.gov/

https://www.britannica.com/event/Human-Genome-Project

https://science.howstuffworks.com/life/genetic/human-genome-project-results.htm

https://www.nature.com/articles/s41576-020-0275-3

Give the credit to: federal government

Illustration by National Human Genome Research Institute licensed under Creative Commons.