Ethics and genetic discrimination: living with the genome

I am a member of UNESCO's International Bioethics Committee (IBC). High on the agenda of the Committee is consideration of the ethical implications of the Human Genome Project. One aspect of those ethical implications concerns the way genomic science will affect our attitudes and actions in relation to people who manifest genetic variation, causing what are sometimes described as disabilities. This was an issue high on the agenda of the IBC when it last met in Quito, Ecuador, in November 2000.

Most of the IBC sessions in Quito were concerned with subjects relevant to the implications for morality, law and society of the advances in genetic science. The Quito meeting was the first meeting of the IBC since the announcement, in June 2000, of the completion of the first provisional draft of the human genome. Although the mandate of the IBC is wider than human bioethics and the human genome, it was natural that the meeting should be mostly concerned with those topics.

Among the issues which the IBC members discussed were public education in bioethics; intellectual property protection of biotechnology; and the implications of embryonic stem cell research and development.

Education issues occupied an important session. Unless the public and its elected leaders understand the developments of genomic science, they can scarcely be criticised for failing to perceive, and to act upon, the implications such science presents for the law and society. The subject of intellectual property protection is obviously among the most important presented by advances in knowledge about the genome. Although the Universal Declaration of the Human Genome and Human Rights, adopted by the IBC and accepted by the General Conference of UNESCO and the General Assembly of the United Nations, speaks of the human genome, in its natural state, as part of the "common heritage of mankind", intellectual property law is invoked to provide temporary rights of patent holders to licence scientific processes, by reference to the genome. In my experience, now over ten years, it can be said with assurance that this is a topic that causes very strong feelings in any international meeting at which it is raised.

Forbidden territory or therapeutic potential?

Probably the hottest topic on the agenda of the IBC in Quito concerned the use of embryonic stem cells. This topic is controversial because of different views adopted by different religious and other teachings, concerning the morality of experimentation involving human embryonic cells. Within these cells, the so-called "stem cells" – which represent the earliest forms of human living material – are believed to have great potential utility for medical research and therapies.

Many observers, mostly scientists, and a good number of those participating in the IBC meeting in Quito, shared an enthusiasm for the potential of this scientific development. To them, it promises the relief of unnecessary pain and premature death caused either by genetic predisposition to disability (such as Alzheimer's Disease, Parkinson's Disease or Huntington's Disease) or traumatic injury occasioned, perhaps, by genetic predisposition (such as the death of heart muscle caused by myocardial infarction). The prospect of utilising human stem cells, cloned to the recipient, calling upon their puripotent (or even totipotent) capacity to replicate the cells of the disabled person, fills many scientists, and not a few lay people, with wonderment and anticipation at the awesome products of the human mind and modern technology.

However, some of the participants in the Quito meeting shared concerns about the use of embryonic stem cells – even those as tiny as the cells described above. Did this mean using the cells of an embryo, which was the first product of a human conception and thus, potentially (given conducive circumstances) capable of developing into a full human being?

Genetic disabilities and elimination.

Pursuant to the Universal Declaration on the Human Genome and Human Rights, a number of representatives of patients' associations were invited to the IBC in Quito. They addressed a meeting which, on this topic, was held in plenary session and in public. The representatives of the patients' associations spoke of the genetic revolution from the point of view of those who themselves suffer, for example, from Parkinson's Disease or who are members of voluntary bodies formed to represent, and protect the rights of, family members suffering from genetic conditions such as Huntington's Disease.

The explanation of the viewpoints of the patients' associations was extremely moving. In many countries, including Australia, the foetus, in certain cases, is virtually automatically checked for evidence of the assistance of genetic conditions such as profound mental retardation. Pre-implantation checking of the embryo is also becoming more common. In such cases the parents are given counselling which, in many instances, leads to rejection of the embryo or termination of a pregnancy. Of course, rejection or termination are not obligatory. But termination decisions are regularly made. Apparently, they are condoned by law in most jurisdictions and certainly by medical practice.

The issues which are presented by the advance of the human genome project include the question of how far down the road of elimination our societies will go. Is it conceivable, either in the short term or some time in the coming century, that a foetus will be aborted for no reason other than it manifests the gene for Huntington's Disease? Or for sickle cell anaemia? Or for schizophrenia? Or for early onset baldness? Or (if it ultimately be shown to be a genetically influenced condition) homosexuality? By what principle is elimination to be allowed or forbidden in law?

It is important to note that the absence of law will, effectively, turn such questions over to be determined, in effect, by parents and the doctors who advise them. Social forces, public opinion and even economic considerations may then influence the determination of where the line is drawn. We may think it intolerable to eliminate a foetus for reasons of potential baldness. But if parents desire to avoid a family tendency towards early baldness, should they be forbidden the choice of an embryo without that gene, in preference to one with it? Is there a risk that a schedule of undesired genetic conditions may be established, affording a comprehensive screening process through which embryos in vitro or foetuses in utero are tested to assure parents of the child of their dreams?

If such practices are not prohibited by law, it is likely that, within the market, somewhere, some such developments will occur. Anyone in doubt should reflect upon the significant ill-balance between male and female infants in India and China. If this can occur with reference to one genetic condition – sex – and often without sophisticated medical technology it will, before long, be available by reference to a multitude of other conditions deemed by particular parents to be unwanted in their child. Where would this have left the embryo that, born, produced Beethoven with his congenital deafness? Milton with his blindness? Mahler with his heart defect?