Human Genome Research
René von Schomberg and Peter Wheale
Keywords:  Human Genome Project; Ethical aspects; Human genome; Intellectual property rights.
Correct citation: Schomberg, R. von, and Wheale, P. (1995), "Human Genome Research." Biotechnology and Development Monitor, No. 25, p. 8-11.

The objectives of human genome research are to construct genetic and physical genome maps, identify the function of specific DNA sequences, and in particular to determine the DNA sequence of active genes. Although not a unitary research endeavour, the sum of all the human genome research programmes worldwide is called the Human Genome Project. Another, much smaller project, called the Human Genome Diversity Project, specifically addresses genetic variation within and between populations.

Notable as an international collaboration led by scientists rather than their governments, the Human Genome Project (HGP) was first formalized by the USA in 1988 and commenced officially on 1st October 1990. Research goals, strategies and resources vary but the overall objective is to gain an understanding of the genetic basis of the species Homo sapiens. The DNA molecule is composed of four units, known as nucleotide bases and there are believed to be about three billion base pairs in the human genome. The first completely sequenced human genome is expected to comprise of both an X and a Y sex chromosome, which would formally make it male, and it will take about 10 more years to complete. Estimates of the overall cost vary between US$ 300-500 million.

Shadow of eugenics
Historically, the study of human genetics is associated with eugenics, the science which deals with all the influences that improve the inborn qualities of humankind. In the early part of this century genetic science focused attention on the determination of the biological basis of traits that were supposed to account for certain sorts of anti-social behaviour and social degeneracy. However, there was a reaction to such eugenics-orientated research, and anti-eugenicist scientists argued successfully for a human genetics free of racial and class bias. However, the eugenics history of human genetics casts a long shadow and there are those who argue that even the contemporary emphasis of much human genome research is implicitly eugenic.

Big science in a small way
The HGP originated largely from initiatives taken in the mid-1980s in the USA, notably by the molecular biologist Robert Sinsheimer, and Charles DeLisi, director of the US Office of Health and Environment at the Department of Energy (DOE). However, prominent US biomedical scientists insisted that the National Institutes of Health (NIH) should take principal control of the HGP rather than the DOE and were successful in persuading the head of the NIH to support the genome project. By 1988 US-federally sponsored research in the human genome had a budget of about US$ 88 million. NIH-funded bodies received around two-thirds of the total, the DOE, the remainder.
By 1988, Britain, France, Italy, West Germany, the Netherlands, Denmark and the Soviet Union all had initiated some genome research and in that year the European Commission proposed its own genome project: Preventive Medicine: Human Genome Analysis. Initially rejected by the European Parliament on the grounds that its preventive aims were unacceptably eugenic, a revised proposal subsequently passed the European Parliament and was adopted by the Council of Ministers. In 1989, the European Commission allocated US$ 11.7 million to human genome research for the period 1989-90. A further US$ 21.5 million was allocated for the period 1990-1994 and US$ 31.5 million for the period 1994-1998.
Earlier, in 1987 the Japanese government, a late-comer to molecular biology and human genome research, established its Human Frontiers Scientific Programme, an international enterprise of cooperative basic research into neurobiology and molecular biology. Total Japanese human genome research funding from the Science and Technology Agency (STA) and Monbusho, the Ministry of Education, Science, Sports and Culture, for 1995 is about US$ 35 million.
The knowledge produced by human genome research has great potential to further the development of genetic screening tests for the identification of carriers of genes implicated in genetic disorders, and to enhance the techniques for DNA fingerprinting.

Genetic screening
Genetic screening encompasses a range of techniques used to diagnose phenotypic traits which have or are believed to have a genetic basis. In the West prenatal screening will usually provide information which allow people to decide whether or not to have an abortion where fetuses are diagnosed to be at risk of, for example, Down’s syndrome, spina bifida, Turner’s syndrome, Tay-Sachs disease, sickle cell anaemia, or one of the thalassaemias. However, in many developing countries abortion is illegal which reduces the value of prenatal diagnosis of such disorders to the local population.
Besides the current debates on the desirability of this kind of information, another drawback is most peoples’ lack of knowledge in understanding the difference between being a carrier of a disease-related gene for a recessive condition, in which the carrier usually has no symptoms, as opposed to an affected individual who has two copies of such a gene. It is hard to guarantee that the doctors who test individuals or populations provide adequate genetic counselling when doctors themselves have minimal training in genetics. Furthermore, in many countries the educational support, which should accompany any routine carrier screening to allay any stigma which may attach to the social status of individuals, is often inadequate and carriers may suffer unfair discrimination and diminished status.
In medical ethics it is necessary to obtain informed consent before a competent individual may be subjected to any medical procedure. Concerns have been expressed about the lack of informed consent, not necessarily because of researchers’ duplicity but because of difficulties of communication.

DNA fingerprinting
DNA fingerprinting is a technique which uses gene probes to generate personal genetic profiles which are as specific to individuals as conventional fingerprints and used to analyze evidence in criminal cases and paternity disputes. In the USA the military is interested in using DNA identification for all its personnel as an aid in, for example, the identification of human remains. Employers, insurance firms, educational establishments, the police, the law courts and immigration authorities all have a potential interest in collecting the respective genetic profiles of potential employees, policy holders, students, criminal suspects, paternity defendants and immigrants.
The proliferation of DNA data bases recording the genetic profiles of individuals challenges the individual’s right of privacy. The majority of countries do not have statutes that recognize the confidentiality of public health information; and with regard to criminal justice systems the lack of data security is a serious concern.

Human genetic diversity
The concept of the genome applies both to the genetic complement which is unique to the individual as well as that which is unique to the species. The genome of every individual is a version of the species genome which is distinguishable from the genomes of other members of the same species, the degree of similarity being an index of relatedness, with identical twins having identical genomes. Genomic variation, both within and between populations, is of great interest as a historical narrative of human activity.
The Human Genome Diversity Project (HGDP) specifically addresses genetic variation, albeit in a form which by implication conceives of genetic difference as being of more significance between races than within them. Since many genetic disorders have a much higher incidence in particular ethnic groups, sampling the DNA of these populations for such disorders can aid the development of genetic screening tests, and ultimately the development of a gene therapy. The HGDP, masterminded by Luigi Luca Cavelli-Sforza, a population geneticist at US Stanford University, is supposed to cost US$ 20 million, provided for by international donors.
The purpose of the HGDP is to collect large amounts of gene samples from a world-wide selection of about 500 genetically distinct human populations. Researchers have already collected genetic data from many peoples including the San peoples of South Africa, Penans of Malaysia, the Australian Aborigines, peoples from the Sahara, Latin American Indians, the Soamis of Northern Norway and Sweden and the Hagahai people of Papua New Guinea.
Indigenous peoples possessing a valuable genetic diversity are yet not valued because of themselves. Their value lies primarily in their extracted genes. For example, health workers collected blood samples from twenty four members of the Hagahai people and these were sent to the gene bank of the US NIH. When seven people were found to have a particular virus, HTLV-1 in their genetic make-up, a virus that was thought would help fight leukaemia, in 1993 the US Department of Commerce applied for a patent on the Hagahai peoples’ DNA sequence and its product.
It seems likely, therefore, that, in time, health products will be developed which would not have been possible without the cooperation of indigenous peoples, such as the Hagahai, but which they themselves cannot possibly afford to purchase and from which they are unlikely to benefit. Cognizant of the injustice of such outcomes a working group of Unesco’s International Bioethics Committee (IBC) recently criticized the HGDP and recommended UN organizations not to endorse projects under this programme.
Spending on the Human Genome Project
(1993, per country)
112 million US$
20 million US$
12 million US$
6.5 million US$
the Netherlands
3.1 million US$
1.8 million US$
1.2 million US$

Bioinformatics and surveillance
To enable information gained from the HGP and the HGDP to be recorded and made accessible, a new information technology has been developed, known as bioinformatics, to computerize nucleic acid sequence information.
Human genome data are credited with providing information about the past, present and future of individuals and species. Biometrical genetic research is being conducted with the purpose of establishing correlations between genetic constitutions and intelligence, anti-social behaviour, mental illness, heritable diseases and workplace disorders.
Since genetic screening might be used to shift responsibility for work-related diseases or unhealthy working conditions onto the workers, there has been an increasing call for limiting discrimination based on genotype and the imbalances which exist in all health systems throughout the world.

Since the advent of recombinant DNA technology in the 1970s there has been a major reinterpretation of patent law all over the world, so that these days in some countries living organisms and their parts and processes, including the cells and genes of humans, can be patented. Importantly, the Dunkel Agreement negotiated in the General Agreement on Tariffs and Trade (GATT) extended Western models of intellectual property rights to developing countries.
In 1991 the NIH Office of Technology Transfer in conjunction with NIH itself filed for patent applications on several hundred DNA fragments isolated from brain tissue. These fragments known as complementary DNAs (cDNAs) or ‘expressed sequence tags’ (ESTs), with unknown functions, list Craig Venter and Mark Adams as the inventors. Many scientists, including James Watson who was then the director of the NIH’s genome programme, objected on principle to the patentability of such partial genetic information. It is questionable as to whether or not such DNA sequences are ‘inventions’ at all or merely ‘products of nature’. It is also argued that such patenting would impede the free flow of scientific information and therefore undermine the informal and cooperative tradition of the HGP.
As a key critic in this debate, Watson was accused of not serving the interest of America, rather reminiscent of the way Oppenheimer, the physicist, was challenged before a US Security Board hearing in 1954 because he was critical of further nuclear weapons developments in the USA. However, Watson and the other critics of these patenting developments were supported by many prestigious individuals, organizations and governments, for example, the Human Genome Organisation and the American Society of Human Genetics. In the event, the NIH 1991 patent application was rejected by the Patent and Trademark Office (PTO) on all the three main patentability grounds: non-obviousness, novelty, and utility.
In 1992 Venter resigned from the NIH to head the new Institute for Genomic Research with a corporate partner, Human Genome Sciences (HGS). The corporation, owned by the venture capital firm, Health Care Investment Corporation, retains the commercial rights to discoveries derived from Venter’s research, although Venter has rights to publish. HGS has an agreement which grants SmithKline Beecham (UK) rights to exploit many of HGS’s discoveries; HGS receives substantial funding in return, and by the third quarter of 1994 had been paid a total of US$ 100 million.
Researchers wishing to gain access to the HGS data bases are obliged to agree to various terms and conditions pertaining to HGS’s rights to file for patents for any technology arising from the use of HGS data. One of Venter’s arguments for this constraint is that HGS uses much better bioinformatics than the publicly-funded data bases. In the UK the Medical Research Council actually prohibited any of its researchers to enter into collaborative agreements with HGS. HGS has recently negotiated an agreement with SmithKline Beechem, for free access to the sequence data.
Human diversity prospecting?
On March 14, 1995 a US patent was issued to the National Institutes of Health (NIH) on a cell line containing the unmodified DNA of an indigenous man of the Hagahai people. The same patent application is pending in 19 other countries. The Hagahai number 260 persons living in the remote highlands of Papua New Guinea. They only came into consistent contact with the outside world in 1984. 
According to a press communique of the Rural Advancement Foundation International (RAFI), Canada/USA, due to the patent, one of the Hagahai men ceased to be the owner of his own genetic material. The patent has provoked anger in the Pacific and deep concerns worldwide. "This patent is another major step down the road to the commodification of life. In the days of colonialism, researchers went after indigenous people’s resources and studied their social organizations and customs. But now, in biocolonial times, they are going after the people themselves" says Pat Roy Mooney, executive director of RAFI. Mooney is investigating prospects to challenge the patenting of human genetic material at the International Court of Justice in The Hague, the Netherlands, as well as bringing the issue to the attention of the parties of the Biodiversity Convention and relevant multilateral bodies. 
RAFI has been closely following the patenting of indigenous people since 1993, when pressure from RAFI and the Guaymi General Congress led to the withdrawal of a patent application by the US Secretary of Commerce on a cell line from a Guaymi indigenous woman from Panama. 
The US Secretary of Commerce, Ron Brown, defends the patent by stating "Under our laws (...) subject matter relating to human cells is patentable and there is no provision for considerations relating to the source of the cells that may be subject of a patent application." Recent cases have demonstrated the potential economic value of human DNA from isolated populations in the diagnosis and treatment of diseases, and the development of vaccines. Blood samples from the asthmatic inhabitants of the remote South Atlantic island of Tristan da Cunha were sold by researchers to a California-based company, which in turn sold rights to its as yet unproved technologies for asthma treatment to the German company Boehringer Ingelheim, for US$ 70 million. 

Source: Indigenous Person from Papua New Guinea Claimed in US Government Patent, RAFI Press Release, October 4, 1995.

The HGP is double-faced: on the one side, it is providing new knowledge of human molecular biology of importance for the development of diagnostic tests for the presence of those genes which are implicated in diseases and disorders, and for the development of gene therapies. However, on the other side, genetic discrimination in employment, personal insurance, and possible violations of individual privacy including the individual’s right ‘not to know’ about their genetic profile have become serious ethical issues.
We also share the concern of those who are critical of the potentially exploitative aspects of the HGDP: in particular, the issues surrounding informed consent, individual autonomy, the quality of genetic counselling, and the injustice done when patented genes derive from indigenous peoples who will clearly not benefit from such applications.
To address these concerns the National Center for Human Genome Research, the NIH and DOE’s Human Genome Program have established the Joint Working Group on Ethical, Legal, and Social Issues associated with mapping and sequencing the human genome. UNESCO is preparing a ‘Declaration on the Protection of the Human Genome’ and the Council of Europe a draft ‘Convention for the Protection of Human Rights and the Dignity of the Human Being with regard to the application of Biology and Medicine’. We await with great interest the deliberations of these bodies on these important issues.
René von Schomberg*/Peter Wheale**

 * Director of the International Centre for Human and Public Affairs/
lecturer Tilburg University P.O. Box 90153, 5000 LE Tilburg, the Netherlands.

** Visiting Fellow at Tilburg University P.O. Box 90153, 5000 LE Tilburg, the Netherlands. E-mail: P.Wheale@surrey.ac.uk

House of Commons Science and Technology Committee Third Report (1995), Human Genetics: The science and its consequences. Report and Minutes of Proceedings, vol. 1. London: HMSO.

J. K. Kevles (1993), "Out of Eugenics: The historical politics of the human genome". In: J. K. Kevles and L. Hood (eds), The Code of Codes. Cambridge (USA): Harvard University Press.

J. Marks (1995), Human Biodiversity: Genes, race, and history. Berlin: A. de Gruyter.

R. McNally and P. R. Wheale (1995), "Bio-patenting and innovation: A new industrial divide?". In: O. Morrissey (ed.), Biotechnological Innovation, Societal Responses and Policy Implications. Proceedings of a workshop 6-7th April. Centre for European Social Research, University College Cork, pp. 7-17

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