On Ethical Dilemmas Arising from the Human Genome Project
PHUA Kai Lit, PhD
The Human Genome Project and related genetic research are exciting scientific quests that are also giving rise to significant ethical dilemmas. Some of these include: the question of where to draw the line, e.g., is research on human cloning ethical, privacy of genetic and medical records, genetic discrimination, access to new and often expensive therapeutic interventions, “playing God”, and patenting and commercialization of genetic material (including those obtained surreptitiously from Third World countries by individuals and multinational corporations from developed countries). Advances such as the Human Genome Project are examples of technological progress threatening to outpace the adjustment ability of social and economic institutions and existing cultural values.
Keywords: Ethical dilemmas, Human Genome Project, medical genetics
Much excitement has been generated recently with the successful decoding of the Human Genome. This is certainly one of the most significant achievements in the history of humanity’s scientific endeavours. It can be considered to be on par with the success of physicists in carrying out nuclear fissions in the 1940s.
All sorts of predictions about the future have been made in the light of this success in elucidating the nucleotide composition of the “information programmes” which are carried within all of us. The more ambitious (and alarming in the eyes of some) assertions include:
The cloning of human beings – discussed by James D. Watson1 as far back as 1971.
The ability to select precisely the characteristics (physical or otherwise) of one’s children – this has begun with in vitro fertilization and blastocyst selection to ensure the birth of a child free from cystic fibrosis, i.e., pre-implantation diagnosis.2
The eventual breeding of more intelligent humans
In this article, I will avoid these predictions and speculations of the future. Instead, I will discuss ethical dilemmas which are already arising from the Human Genome Project and other related advances in biomedical technology. The dilemmas include the following questions:
Is it ethical to persist with research to unravel the secrets of the Human Genome?
How are we to deal with the problem of “genetic discrimination” against people who possess genes that increase the possibility of developing serious diseases or diseases that are expensive to treat? How should the privacy of the genetic and medical records of such people be protected? What should our response be to employers who use genetic screening to avoid hiring people with certain genes?3 Or insurance companies which refuse to sell health and life insurance policies to people with “defective genes”? What if these companies respond to legislation forbidding this practice by raising their premiums to astronomical levels for such people?
If gene therapy becomes effective and safe (i.e. the side effects are minimal and the mortality rate is low) but remains expensive, should access to this technology depend on ability to pay?
Should we be “playing God” by interfering with what used to be the outcome of mate selection, sexual reproduction and natural selection?
Should we allow the patenting and commercialization of human genetic material?
The Ethics of Persisting with Research to Unravel the Secrets of the Human Genome
We note that the United States has banned further research into the cloning of human beings. The debate over the wisdom of further research on the Human Genome resembles the debate during the 1970s about the wisdom of recombinant DNA research. The latter debate resulted in the issue of research guidelines from the United States government. The present debate over research on the Human Genome is likely to be “resolved” in a similar manner.
We know that … the DNA sequence between any two individuals is
99.9% identical to one another. So out of the 3 billion base pairs there are only about 3 million common variants that would distinguish the entire genomes of any two individuals. So we recognize that the inherited susceptibility to disease must lie in those relatively subtle variations in genes
Richard Lifton (quoted in Online NewsHour, June 26, 2000)4
It seems that, at this juncture, further research on the Human Genome for therapeutic purposes is relatively uncontroversial. This is definitely the case with research on gene therapy to cure diseases arising from single gene mutations such as sickle cell anaemia, cystic fibrosis and Tay-Sachs disease. It is things like the creation of genetically modified foods, transgenic organisms, genetic intervention for non-therapeutic purposes, “germ line therapy” and human cloning which are much more controversial.5
As we speak, there is no constitutional or federal law protecting your medical privacy; the most intimate information about us is traded on the Internet. And we have no recourse. Our financial information about us is traded … Banks call in loans, when they discover that one of their clients has cancer or had a stroke and is at bad risk. Employers -- we have 206 cases already -- do not hire people or fire them because they have bad genes.
Amitai Atzioni (quoted in Online NewsHour, July 17, 2000)6
Genetic discrimination is already occurring in advanced countries such as the United States. In the light of cases of employers using the findings from genetic tests to avoid hiring people who possess genes associated with diseases that are expensive to treat or are long-lasting, the U.S. President signed an Executive Order against such practices in the workplace. Similarly, insurance companies have also used genetic information to discriminate by carrying out “risk selection” – individuals at higher risk of developing certain diseases or who are at risk of dying early are unable to purchase life insurance or health insurance policies from the companies or are excluded by other means such as insurance premiums set at astronomical levels. This is not surprising since the insurance companies stand to gain more financially by insuring the healthier portions of the population and by avoiding those who are sicker or at higher risk of developing costly illnesses or are more likely to die earlier. Perhaps a reasonable solution to this problem is the adoption of some form of compulsory, universal social insurance that would enlarge the risk pool and enable the use of funds derived from the healthy to cross-subsidise the expenses of the sick.7 Other than this, the only other possible approaches are funding of their health expenses from general taxation revenues or neglect of those who suffer from expensive illnesses by the government. It has been alleged that the Singapore Government is essentially abandoning HIV victims to their plight.8 Another example of genetic discrimination is “sex-selective abortion”, e.g., abortion of female fetuses after detection of their sex in utero (because of a cultural preference for male babies) in countries like India and China.9 In this form of genetic discrimination, fetuses with two X chromosomes are more likely to be aborted than fetuses with an X chromosome and a Y chromosome.
Another issue is genetic testing of the young: these range from testing of embryos (as in pre-implantation screening) and fetuses in utero to children who have already been born (including those who are up for adoption). Should fetuses with “defective genes” be aborted? Pre-adoptive testing can be used to screen out children with certain genes in favour of “normal” children during the process of adoption. Again, should this be allowed? Related to all the above is the issue of privacy and confidentiality of medical and genetic records. Individuals known to be HIV positive but who have not developed “full blown AIDS” are already being stigmatized and discriminated against. What about people who have “defective genes”, who have genes for late onset diseases or those who are merely carriers of recessive genes for certain serious medical conditions? Would they also be stigmatized and discriminated against and have their family and other interpersonal relationships disrupted? Should their spouses and family members be informed about their conditions in the first place? Should testing for diseases for which no effective treatment exists today be allowed? Whatever the case, it would be reasonable to argue that medical and genetic records should be legally protected and should be considered to be on par in terms of importance to personal financial records. Access to the records should be properly safeguarded and people should be allowed to ensure that their records do not contain errors which can cause them considerable personal damage. This would protect the well-being of the individual to some extent.
Access to Expensive Forms of Therapy
This question is not unique to advances arising from the Human Genome Project. It is a major and persistent issue associated with all advances in biomedical technology that give rise to new drugs and medical procedures which are expensive and benefit only individual recipients rather than entire population groups. We can contrast coronary bypass surgery and heart transplants which benefit only individuals with water chlorination and fluoridation which benefit the entire community. Related questions include the allocation of scarce resources between preventive care and high-tech curative care
At the present moment, gene therapy is not cheap and not very successful. This may change in the future if further advances result in cheaper interventions and higher success rates. But what if the technology stays expensive while simultaneously becoming more and more effective?
Does this mean that only those with the ability to pay for gene therapy will have access to this technology? Should the government pay for or at least subsidise the cost of gene therapy for victims of genetic diseases such as myotonic dystrophy, Huntington’s disease and so on? In Malaysia today, there are constant appeals to the public by low income parents through newspapers to raise money to pay for liver transplants and other expensive procedures for their children. Further advances in the development of expensive drugs and expensive medical procedures will give rise to even more appeals unless the Government intervenes to make them more affordable to the public or does not permit such drugs and procedures in Malaysia. If the Government subsidises expensive, individual-oriented high tech care, this would also mean that there would be less money to fund less expensive, group-oriented health programmes such as antenatal care, mass immunizations and so on. These are the classic problems of opportunity costs (where doing more of X would lead to less resources for doing Y or Z) and allocative efficiency, i.e., how to allocate limited resources between different programmes so as to maximize the impact on the people’s health.
However, there is always the possibility that advances in genetic medicine can be used in conjunction with preventive medicine to lower healthcare costs, e.g., early detection of a gene linked to a particular disease can perhaps be accompanied by early treatment and lifestyle changes. Or that advances in pharmacogenetics can result in customized drug treatment regimens to reduce chances of adverse drug reactions and iatrogenic illness.
Direct Intervention into Human Reproduction and the Composition and Distribution of the Gene Pool
The Eugenics movement in Europe and North America during the first part of the twentieth century is an example of organized efforts to “improve” upon the human gene pool. Eugenics was considered a scientific way to improve the human race by better breeding. As part of the movement, hundreds of thousands of people were sterilized without their knowledge because they were considered to be “feeble-minded” or “genetically inadequate” in other ways and therefore should be prevented from reproducing. More than 20,000 eugenics-linked sterilizations were performed in the United States. In Britain, more than 45,000 were performed. The most extreme example of applied eugenics is of course the programme of Adolf Hitler’s Government. In Germany, more than 250,000 were involuntarily sterilized! Their eugenics programme eventually culminated in the murder of Germans deemed genetically defective - the mentally and physically handicapped - by the Nazis.10,11 Although by no means equivalent to the Eugenics movement in the movement’s violation of the principle of informed consent and of human rights, the increasing ability of scientists to intervene in human reproduction today and possibly in the composition and distribution of the gene pool tomorrow, does give rise to food for thought indeed.
So far, we have witnessed in vitro fertilization, surrogate motherhood (“rent-a-womb”), using sperm from a dead man to fertilise his widow, lesbian mothers, a 63 year-old woman giving birth, pre-implantation diagnosis, medical procedures being carried out on fetuses and so on.12 Selective abortion in countries like India and China is already generating a lot of controversy. We can expect things to become even more controversial with improvements in the technology to detect or modify the physical characteristics and genetic composition of embryos and unborn children (non-inheritable gene therapy) or even subsequent generations through germ-line gene therapy (inheritable gene therapy). Is modifying the genetic code of an individual for non-therapeutic reasons (e.g. to get a blonde hair and blue-eyed baby in America or a Chinese baby without the epicanthic fold - “round eyes” instead of “almond eyes” – in Malaysia) morally equivalent to the changing of a line of code in a computer programme so as to change the colour of the font or the nature of the graphic on the computer screen? If we allow breast implants to enlarge the bust size of women and pectoral implants to increase the chest size of men, what is there to stop the use of genetic modification to increase bust size and chest size “naturally”?13
Patenting and Commercialisation of Human Genetic Material
Patenting and commercialization of human genetic material is already occurring in countries like the United States. More than 1,000 genes have already been patented there.14 So-called “Disease Gene Patents” have been granted to cover gene sequences containing mutations linked to certain diseases like the BRCA1 gene. According to bioethics professor Jon Merz, “In addition to claims covering all uses of the chemical sequences, the patents also claim all methods of diagnosis of disease by identifying in a specific patient the disclosed genetic alleles, mutations or polymorphisms”.15 The private sector company which successfully won the race to decode the Human Genome, Celera Genomics, has filed thousands of applications for patents. The implications of this effort to patent naturally occurring gene sequences coupled with exclusive licensing of rights to the use of the gene sequences to a single company by the patent-holder are disturbing indeed. The quote below hits the nail right on the head:
The human genome is the kind of common biological heritage of all human beings, not the property of a corporation or an individual or a scientist. And these genes of course weren’t invented by the people who sequence them. The notion that revealing the sequence of a gene should enable you to be granted a patent monopoly on it is like saying that the chemists who determined that graphite is made of lead atoms should get a patent on graphite – or that mapping the bottom of the ocean should allow you to own the ocean bottom.
Jonathan King (quoted in Online NewsHour, July 6, 2000)16
When patents are awarded to individuals or commercial companies for decoding particular gene sequences before their effects are fully understood, the result would be financial and other restrictions on further research by other researchers.
The granting of patents related to human and non-human genetic material will encourage the collection of genetic material from indigenous peoples (without their knowledge and approval) for patenting for commercial reasons in the developed countries.17 It will also encourage unlawful collection of non-human biological specimens from Third World countries with the objective of obtaining potentially lucrative patents on genetic material derived from these specimens. The Star newspaper reported in March 2000 that a team of American scientists was fined RM 20,000 for violating the Sarawak Biodiversity Ordinance 1997 by collecting about 500 biological specimens even though their application for a permit to do so had already been rejected by the authorities.18 It is very likely that this illegal collection of biological specimens is linked to the current practice of the granting of patents on human and non-human genetic material by the United States government. Thus, the biological heritage of less sophisticated Third World countries is at risk of being patented for profit by individuals and commercial companies from the technologically advanced countries.
The latest developments in the Human Genome Project and in other areas of biomedical technology are both exciting as well as sobering. Bioethicists have been engaging in interesting debates over the philosophical and moral issues associated with these.19 The emergence of bioethics was spurred heavily by disclosures of unethical conduct and serious violations of human rights in biomedical research. Bioethics is also useful as a tool to discuss emerging ethical dilemmas. This article has discussed certain important emerging issues associated with the Human Genome Project and genetic technology such as privacy and confidentiality of medical and genetic records, genetic discrimination, access to new and often expensive therapeutic interventions, “playing God”, and commercialization of human (and non-human) genetic material. These issues illustrate the fact that advances in technology such as the fruits of the Human Genome Project are threatening to outpace the adjustment ability of social and economic institutions and existing cultural values.
1. Watson JD. Moving Toward the Clonal Man. The Atlantic 1971; 227(5):50-53
2. Handyside AH, Lesko JG, Tarin JJ, Winston RML, Hughes MR. Birth of a Normal Girl after In Vitro Fertilization and Preimplantation Diagnostic Testing for Cystic Fibrosis. New England J of Medicine 1992; 327:905-909
3. Wicks AC, Sever LE, Harty R, Gajewski SW, Marcus-Smith M. Screening Workers for Genetic Hypersusceptibility. J of Health and Human Services Administration 1999; 22(1):116-132
4. Online NewsHour. Genome Unraveled. June 26, 2000.
5. Casey DK. Genes, Dreams, and Reality. Judicature 1999; 83(3) Nov-Dec.
6. Online NewsHour. A Conversation with Amitai Etzioni. July 17, 2000.
7. Chan CK. Ethical Aspects of Healthcare Reforms in Malaysia. Eubios Journal of Asian and International Bioethics 1998; 8:115-118
8. Mitton R. From Our Correspondent: Singapore’s Shame.
Asiaweek, April 19, 2000
9. Sachar RK, Verma J, Prakash V, Chopra A, Adlaka R, Sofat, R. Sex-selective Fertility Control – An Outrage. Journal of Family Welfare 1990; 36: 30-35
10. Kevles D. In the Name of Eugenics. Berkeley: University of California Press, 1992.
11. Allen GE. Science Misapplied: The Eugenics Age Revisited. Technology Review 1996; August-September
12. McGee G. Ethical Issues in Genetics in the Next 100 Years. 1997
13. Brubach H. Beauty Under the Knife. The Atlantic 2000; 285(2):98-102
14. Online NewsHour. Genetic Ethics. July 3, 2000.
15. Merz JF Statement to the Subcommittee on Courts and Intellectual Property of the Committee on the Judiciary, U.S. House of Representatives Oversight Hearing on Gene Patents and Other Genomic Inventions. July 13, 2000
16. Online NewsHour. Patenting Genes. July 6, 2000.
17. Lone Dog L. Whose Genes Are They? The Human Genome Diversity Project. Journal of Health and Social Policy 1999; 10(4):51-66
18. The Star. US Scientists Fined for Stealing. March 11, 2000 pp 12
19. Macer DRJ. What the Genome Project Means for Society. In: Macer DRJ editor. Ethical Challenges as We Approach the End of the Human Genome Project. Christchurch, New Zealand: Eubios Ethics Institute, 1998: 107-121.