January 18, 2022

Ethical fears cast shadow on Human Genome Initiative

As my wife and I were sitting in our doctor’s office waiting (and waiting, and waiting) for her turn to be seen, I picked up a copy of the Smithsonian, a monthly magazine published at the Smithsonian Institution in Washington. It was the February 1990 issue, quite recent by waiting-room standards. In it there is an excellent article titled, “James Watson and the Search for Biology’s `Holy Grail’.” Biology’s “Holy Grail” to which the writer, Stephen Hall, is referring, is the complete mapping of the human genome, the Human Genome Initiative.

Since $3 billion of our tax money is going into this initiative over the next 15 years, we ought to know something about this most comprehensive and expensive biological study ever undertaken, the completion of which, it is argued, will revolutionize biology and medicine in the next 10 years or so.

The human genome is the genetic information, the complete set of instructions, contained in all the genes in all our chromosomes that we pass on to our descendants by our germ cells, egg cells and sperm. So, this is a massive project. The 46 chromosomes in human cells contain between 50,000 and 100,000 genes. We don’t even know the exact number. One geneticist put it this way: “It is as if I took six sets of the Encyclopedia Britannica and shredded them, and spread the pieces all over the floor, and asked you to reconstruct the books.” But it can be done. Scientists are discovering shortcuts like automatic chromosome sorters and the polymerase chain reaction. And with enough researchers working in coordination, Dr. Watson estimates the job will be finished by 2005.

The article in the Smithsonian is mostly about Dr. James D. Watson. Who is he? Well, for starters, he and Francis H.C. Crick are the ones who deducted the actual structure of DNA, the molecule of which our genes are made. He was 25 at the time. In 1962, nine years later, he and Crick were awarded the Nobel Prize for that piece of work.

He has written an account of his discovery in a book called, “The Double Helix,” published in 1968, which was a best-seller. Since then he has been director of the respected old Cold Spring Harbor Laboratory on northern Long Island, where he attracts scientists, and the grant money to pay them, for work on a variety of research projects. He has a reputation for integrity and being candid, sometimes to the point of being insulting, Hall says. He attacks European scientists as “a bunch of idiots” for declining to discuss the ethical implications of genome research.

So, what makes this project so important? There are at least 4,000 human illnesses that are either caused by or influenced by defective genes. The defective gene or genes have been pinpointed for a few diseases, but there are many others. When the genome mapping is finally completed, we will know not only which genes cause which illnesses, but also which genes determine the color of our skin, which genes make us short and tall, which genes influence our personality traits and behavior, baldness genes, the genes that make us live longer, the gene for blue eyes, and on and on. And this is why the whole initiative is so controversial.

The benefits of this project will be the vast increase in our knowledge of diseases, knowledge which may lead to cures for some of them, like diabetes, multiple sclerosis, dystonia, some cancers, dyslexia, allergies and a myriad of others. It should even settle the controversy over whether alcoholism is learned or inherited. These benefits are enormous. They’ll generate hundreds of disease-related tests that may enable us to detect susceptibility to those we can avoid.

The dark side is the possible abuses of this information. Will potential employers demand a genetic screen before hiring? Will insurance companies want high premiums for clients who don’t have a “clean screen”? The FBI already maintains a DNA databank on criminals. Will law enforcement agencies be able to influence juries with a court-mandated genetic screen? How will doctors counsel families when the genetic screen of the cells of their unborn child, obtained by amniocentesis, shows that the child will develop a congenital condition they don’t yet know how to cure, like Huntington’s chorea?

Somehow we have to avoid the awful mistakes mankind has made in the past in attempts to improve the human race, both in Germany and in the United States. And we have to do something to maintain the privacy of our own DNA screens. Yet we don’t want our lawmakers to rush to pass laws without a lot of serious discussion first. That’s one of the reasons I like to see Dr. Watson in the position of directing this project.

Watson has said he is not comfortable with “this ethics thing.” So, instead of avoiding it, like he says European scientists are doing, he has set aside 3 percent of his $3 billion budget to be devoted to the study and research on the ethical implications of mapping the human genome. Over 15 years this would amount to an impressive $90 million, the largest commitment of money to bioethics ever made for a single project. He has set up a working group on ethics headed by Nancy Wexler of Columbia University, a neuropsychologist. The invariably fatal Huntington’s chorea runs in her family. The encouraging thing is the way he’s packed this ethics committee with people who are known to be critical of the misuses of scientific knowledge. People like Jonathan Beckwith, whom Hall calls “a thoughtful critic of genetic technologies”; Patricia King, a bioethicist at Georgetown University; and Robert F. Murray Jr. of Howard University, an expert in the early abuses of genetic screening for sickle-cell anemia, and the misuse of that screening to feed racial prejudice.

Twenty years ago, the world was just moving into the then-new reproductive technologies that led to in vitro fertilization, test-tube babies and surrogate parenting. Dr. Watson wrote an essay in 1971 for the Atlantic called “Moving Toward the Clonal Man,” in which he urged that the ethical issues of such technologies be addressed. He wrote, “…if we do not think about it now, the possibility of our having a free choice will one day be suddenly gone.” In that essay he argued against what he called the “laissez-faire nonsense” that science inevitably makes the world better. I like the way that man thinks. Chalk up one for Dr. Watson.

Robert A. Graves, M.D. is a retired physician who lives in Orono. His column appears biweekly.

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