Rival researchers this week announced that they had completed a draft model of the human genome — the blueprint of the human being. The breakthrough was hailed as “a milestone in science,” a “revolution in medical science” and “the most important, most wondrous map ever produced by humankind.” For once, the hyperbole might be accurate. But the unraveling of the human genome also poses innumerable challenges of a different sort. Dealing with those social, political and philosophical issues will prove every bit as formidable as the science. The real work is now only beginning.
The genome is the genetic code for human beings. This “book of life” is made up of about 3.15 billion letters of DNA. The trick is reading it. Only about 5 percent of those letters combine to make words. Scientists have had to find out what the words are and then locate them within the entire mess. It has taken 10 years, $300 million and two high-powered consortiums to unravel as much as 99 percent of the total; the job was expected to be finished by 2003, but it should be done well before then.
Being able to read the book is only the first step. We then have to be able to understand its meaning. That will take considerably longer. But the potential advantages are breathtaking.
Since scientists now believe that most diseases are caused by genes and errors in their replication or the breakdown of their function, being able to read the genome means we will have to rethink our entire conception of health. We will be able to screen each person for potential diseases and fashion medicines that are tailored to each individual to maximize effectiveness. And yes, we will also have the ability to select in advance the genetic makeup of our offspring.
With that information comes considerable responsibility as well. The knowledge can be used for bad purposes as well as good. The data that allow us to anticipate the onset of disease can be used to discriminate against those same individuals. For example, people with a high risk of getting cancer will pay higher insurance premiums. Employment opportunities could be similarly restricted. And there is the age-old fear of “designer babies” and eugenics, as well as the danger of releasing artificially created genes into a world that is not ready for them.
It seems obvious that this information should be the common heritage of all humanity. Restricting its use and dissemination to those who can pay for it is a recipe for a digital apartheid that would have vast consequences. Unfortunately, that outcome is possible.
Two groups have been racing to complete the genome. The first is the international consortium that has been funded by several governments. The other is a private effort, led by Mr. J. Craig Venter. He hopes to profit by selling the information to scientists and pharmaceutical companies. (In contrast, the public consortium updates its data on the Internet every 24 hours). Thus far, Celera, Mr. Venter’s company, has filed for patents on nearly two dozen individual genes. That has caused an uproar. In response, Mr. Venter says that all of Celera’s data will be made available to the public in the near future.
The interpretation and use of that data is still some years away. Even with 99 percent of the genome complete, there are still considerable gaps to be filled. Some cannot be completed with existing technology. In addition, knowledge of the makeup of the genome will refocus efforts on understanding how genes work. Scientists are not even certain how many genes we have. Estimates run from 30,000 to 120,000. That margin of error on such a basic issue is an indication of how much more is to be learned.
Doing the science is only half the challenge. Just as pressing — if not more so — are the philosophical questions. Unfortunately, these are usually tackled too late, after scientists have announced one breakthrough or another that was always thought to be “years away.” This time, however, we have been given ample warning.
Politicians, philosophers, scientists and legal specialists must apply themselves to the problems raised by the unraveling of the genome. They must promulgate standards, guidelines and rules for the production of this information and its dissemination. Individual privacy must be respected, while the benefits from this discovery must be shared with all of humanity. The path ahead will be every bit as twisted and complex as the double helix that the scientists are trying to decode.
In a time of both misinformation and too much information, quality journalism is more crucial than ever.
By subscribing, you can help us get the story right.