How brave a new world?

Ethical implications of identifying the human genome

By Jeffrey P. Kahn, Ph.D., M.P.H.
Director, Center for Bioethics
University of Minnesota

Public and private research groups are racing neck-in-neck to map the human genome. But are they competing in the name of science or to maintain ownership of the information?

(CNN) -- The announcement that the human genome has been sequenced is less about a conclusion than about the beginning of the era of genetic medicine.

With the announcement begins the challenges of dealing with the ethical questions and issues spawned by the successes of genetic research.

The initial sequencing will speed up research into what genes code for, and how differences in their code may affect our health, our susceptibilities, and our physical and psychological traits.

But who owns the information created by sequencing the genome?

Will the tests created to identify mutations lead to discrimination against those who are perceived as genetically flawed -- and can we prevent that from happening?

How far should we go in using gene therapy to correct the "genetic defects" we discover, and who should have access to this therapy?

Who owns the genome?

Using the increasingly complete understanding of the genome, scientists have begun to unravel what our genes mean. And the companies and institutions that pay these scientists have begun to successfully protect their efforts with patents.

The system of patents exists to protect the interests of both inventors and society. Inventors have the incentive of a limited monopoly on their innovations, allowing them to sell or license their products or techniques for profit. Society benefits from those innovations and the full disclosure of whatever has been patented.

But our system does not allow a patent for the discovery of a law of nature. Gravity could not be patented by Sir Isaac Newton, although he was the first to describe it. Identifying the raw sequence of a gene is viewed much the same way, unless a scientist can show the function of a particular sequence -- that it causes a disease like cystic fibrosis, for example. Such a gene would have obvious uses in developing tests or treatment for the disease.

Despite this limitation on patent claims, the U.S. Patent Office has granted protection for a number of incomplete gene sequences, and apparently has many more applications pending.

Our 200-year-old patent system never was intended to address the question of patent protection for genes, and a slowly changing system and rapidly changing science make for strained public policy.

This issue is becoming increasingly important not only in this country but also worldwide, as genetic sciences increasingly become a global effort with a global market.

Genetic testing: the good, the bad, and the unfair

Only a few of the genetic tests now available actually predict whether a person will contract a disease or condition. Instead, most tests offer much more limited information about how much more likely a person is to develop a disease compared to someone who tests "normal."

This kind of information is not very useful for individuals, who would like to know whether they actually have or will get a particular disease, and what steps, if any, they ought to take to protect their health.

But probabilities are very useful for predicting how many people in a group will contract cancer or Alzheimer's disease, and so insurance companies and potential employers may well be very interested in measuring their risks using genetic tests.

Researchers have pinpointed a gene for "early-onset" Alzheimer's disease, and a test can now detect the gene's presence in patients

The genetic codes that will be used in tests to predict health risks often are -- and will continue to be -- first identified by research on particular groups.

Research on women of Jewish ancestry from Eastern Europe, for example, led to tests that predict increased breast cancer risk in women with the certain genes.

This discovery and others like it point to only a few of what are probably many genetic defects that influence the development of diseases such as cancer, and it is only because of the genetic usefulness of members of a population that their "defects" are cataloged first.

But being first is a double-edged sword. Members of the group are the first to gain access to more information about future health risks and to be able to seek early testing and treatment. But they also are the first to have the information used against them -- for example, to determine eligibility and premiums for insurance or to draw broad conclusions about whether or not they are healthy.

Using genetic testing to distinguish individuals might make sense if it were able to single out those truly at greater genetic risk. We all carry some assortment of genetic defects, but for most of us science has yet to discover our particular defects or tests to identify them.

Since genetic tests are available for only a fraction of the diseases that likely have a genetic component, it is unfair to single out those people affected by the few diseases for which we now can test.

Cures from the inside out?

What if we could fix the defects identified by genetic tests? Gene therapy is on the cusp of becoming effective. This could have a huge medical impact, since these therapies could provide permanent cures at the molecular level -- no more drugs, no more treatments after a single "magic bullet" has its effects.

One question will arise around how serious an illness or defect must be to warrant the use of gene therapy. Another will ask whether the technology should be used not to cure, but to enhance performance.

Since such therapies will work at the genetic level, we will need to decide whether they should be used on fetuses, on children, or only on adults. Deciding to treat diseases that have effects in childhood will be easy. But what about other uses, such as enhancing height or athletic ability, changing sexual orientation, or treating late onset diseases? Those decisions will be more difficult.

Should gene therapy be restricted to only serious diseases? Should it be used to enhance traits or characteristics such as memory or intelligence? Maybe the most important question is whether gene therapy should be used on eggs and sperm, so-called germ cells.

There is great promise in a technology that not only can treat disease but also can permanently cure it at the level of our genes. And therein lies the rub.

Many Americans often come in contact with genetic alteration and may not know it. Genetically modified foods include tomatoes, corn, soy and potatoes and contain substances not commonly found in them.

It is difficult to undo genetic changes, especially when they may persist many generations into the future. So we must think about how we will assure that our genetic legacy is not only what we hope, but also what our descendants can accept.

Looking forward

The age of genetics is upon us, and with it come many ethical challenges. We must protect the rights of the genetic innovators as we preserve the public nature of the information they use.

Identifying the genetic code has great promise. It can help us discover causes of disease and better understand who we are. We must recognize, however, that with such promise comes great risk.

Even if we would like to know what future our genes hold, the question we must ask is whether that information should be collected, and more important, who should be able to see and use it.

And when we are able to change the future through the alteration of our very genes, the challenge is to think not only for ourselves, but also about how our decisions will affect those who come after us.

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