By Robyn Marshall
The resolution of the 3 billion-nucleotide sequence of the human genome should be a time of great celebration of human scientific endeavour and ingenuity. It opens the possibility of eliminating 4000 genetic diseases that afflict children, many with severe physical and/or mental disabilities. It opens the possibility of preventing the untimely death of adults, struck down by a genetically inherited propensity to cancer or heart disease, before they can fulfil their potential.
In fact, the very opposite will occur. Because the human genome project (HGP) has been developed in a capitalist world — one in which private profit rules — it will produce a legal and ethical nightmare.
Multinational corporations will patent literally thousands of unique sequences, and products based on the new knowledge will be commercialised and accessible only to those who can pay exorbitant prices for them. Compulsory genetic testing is already on the cards, laying the basis for a new form of discrimination in employment, reproductive rights and access to social services. We can expect an erosion of personal privacy and confidentiality, and the new wave of social engineering based on a biological determinist perspective will have many unforeseen consequences for ordinary people.
Ownership
The HGP began in 1990 with more than 1100 scientists from the United States, Britain, Japan, France, China and Germany cooperating to sequence the entire human genome. It was publicly funded by a $3 billion grant from the US Department of Energy and was expected to take until the year 2005; it finished five years early.
Beginning with blood and sperm cells, the HGP separated out the 23 chromosomes, chopped each into very large fragments of DNA, matched up the ends of the fragments to put them in order (called mapping) and then sequenced the nucleotide bases. Within 24 hours, the results of each sequence was placed on a public database called GenBank, which anyone can access through the internet.
In 1998, a privately owned company, Celera Genomics, led by Craig Venter, decided it could complete the project faster by throwing out the mapping stage and cutting up the DNA into overlapping small fragments, then applying computer-based bio-informatics to reassemble the sequence in the right order. The company had 300 sequencing machines running 24 hours a day, seven days a week. At the same time, it accessed the publicly funded GenBank to order and check its sequences.
Celera and the HGP issued a joint media release on June 26 announcing that they had both sequenced the human genome, giving 70,000 to 100,000 different genes (in fact, the actual number of human genes is unknown).
Celera and the HGP held secret talks last year about collaboration, but these collapsed amidst mutual recrimination when Celera refused to release its gene sequences immediately and fully into the public domain.
Tapping into Celera's full genetic notes will cost corporate subscribers an estimated $5-15 million a year. In these circumstances, the current public free access to GenBank is unlikely to last long. About 35,000 people visit the GenBank site each day.
Patents
In 1987, a Harvard biologist was granted the first patent for an animal, the "oncomouse", because it had been genetically engineered to develop cancer. It was licensed to the DuPont corporation, which had financed the research.
By 1997, more than 40 animals had been patented, including rabbits, pigs, turkeys, nematodes and mice. Hundreds of patent applications for pigs, cows, fish, sheep, monkeys and all cloned mammals are awaiting approval.
Celera plans to patent 300 genes. Another bio-technology company, Human Genome Sciences (HGS), has already won more than 100 gene patents and has filed patent applications for another 7000 genes. The bio-tech company Incyte has patented 500 full length genes and has applied for another 7000, many more than any other company.
Patents have already led to more than 740 genetic tests being on the market or in the process of development, according to the US National Institute of Health.
International patent law, designed for applications of the steam engine in the 19th century, is totally out of date and unable to handle such complicated issues as the human genome. Furthermore, in a rational society, there would be no patenting of the human genome, or the genome of any animal or plant.
Researchers have no idea what many of the genes do, how the protein works in the cell, its roles in disease, whether the gene is actually translated into protein, or much of anything about its activity. About 50,000 human genes have been identified, but the function of only 10% of these is known.
Around 50-80% of the time, a random human gene with unknown function will have a sufficiently similar counterpart in a nematode worm or a fruit fly that the function of that gene can be studied.
The genome of the fruit fly Drosophila melanogaster was sequenced last March. The researchers found that 60% of the 289 known human diseases have equivalent genes in flies. And 50% of all of the 14,000 fly proteins show similarities to known mammalian proteins.
The baker's yeast Saccharomyces cerevisiae was the first organism with a nucleus to have its genome sequence read, in 1996. Approximately 38% of its 6050 proteins are similar to all known mammalian proteins. More than 90% of the mouse proteins identified so far show similarities to known human proteins.
Since patent standards ask only that researchers take a reasonable guess at what their new-found gene might do, the patents are really flimsy because they are relying on the results of analysis in simple organisms to predict the function in humans.
Public research, private ownership
Nearly 75% of patents taken out by US corporations have been based on publicly funded research.
Corporate ownership of genes ignores the contribution of thousands of scientists who have worked on the proteins in other organisms over decades, and have published their data in the public arena. Just in the US there are more than 1100 biotechnology companies involved in research.
In medicine and biology, until now, most scientific results have been produced by academics and postgraduate students in university laboratories. As a condition of receiving public funding, the research has generally been publicly available.
The application of patents is now severely hampering research in many areas. For example, scientists recently found a gene that could be instrumental in developing new AIDS drugs. However, it had already been patented by HGS, whose patent claim was not even specific about how the gene could have a connection to AIDS (they probably had no idea it could be applied to AIDS).
Last year, some 25% of US laboratories received threatening letters from lawyers acting for bio-tech companies. They were ordered to stop carrying out clinical tests on diseases such as late onset Alzheimer's, breast cancer and many others because the bio-tech company had an application for a patent.
Many companies are patenting genes that they barely understand and by locking up data in private databases are restricting future research to the privileged few who have access to the data by paid subscription.
Designer drugs
The large pharmaceutical companies hope to cash in in a big way: through designer drugs individualised via genetic testing. It is expected that the new subject "pharmacogenomics" could become an US$800 million industry by the year 2005.
Most prescription drugs work for only 30-50% of the population. In extreme cases, a drug that saves one person could be toxic for someone else. The new drug rezulin, for example, which is used for type II diabetes, has been linked to more than 60 deaths from liver toxicity. However, a simple genetic test of potential users could now determine if the drug would be effective or poisonous.
Knowing the genomic sequence will speed up the search for drugs that are effective in treating some illnesses. We will therefore see a flood of new drugs, patented for 20 years.
This work used to be hit and miss, taking years of research by dozens of scientists in different laboratories. Today it can take just weeks.
Researchers at Smith, Kline & Beecham, for example, collaborated with HGS to analyse some genetic material from osteoclast cells from patients with bone tumours and osteoporosis. HGS sequenced the sample and did homology searches which revealed that one sequence in particular, which was over-expressed by the osteoclast cell, matched those of a previously identified class of molecules, cathepsins. For Smith, Kline & Beecham that exercise in bio-informatics yielded a promising drug target in weeks.
A German company, Lion Bioscience, has made a US$100 million agreement with pharmaceutical giant Bayer to build and manage a bio-informatics capability across all of Bayer's divisions.
In July, a legal battle broke out between British company Oxford Gene Technologies and the Californian company Affymetrix over the right to use a new tool in genetic analysis, the DNA micro-array or "gene chip". This technology can tell exactly which genes are being expressed in any tissue in any individual and will be the basis for determining individual designer drugs.
For example, comparison of gene expression in drug-treated and untreated cells may yield new insight into how drugs work, and how they could be improved. In B-cell lymphoma (cancer of the white blood cells), in which patients either respond to chemotherapy or die rapidly, comparison of patterns of expression in a large 18,000 gene micro-array profile database of lymphoma patients may provide new ways of identifying those patients who can respond to treatment. This indicates how much is at stake financially in the battle over who owns this technology.
Discrimination
Genetic discrimination is already occurring. Healthy people have been fired from jobs, treated differently in school or barred from adopting a child because they carried genes that could potentially result in disease or disability.
Insurance companies survive by discriminating against high-risk applicants and people with mental retardation have long been discriminated against in insurance. Now a new type of discrimination is emerging due to the increasing use of genetic tests.
In a recent case, a six-year-old boy diagnosed with fragile X syndrome (causing severe mental disability) visited a neurologist who scribbled "fragile X" on a health insurance claim. The insurance company consequently cancelled coverage for the boy's entire family of six, even though none of his siblings had been diagnosed with the condition.
In another case, a pregnant woman whose foetus tested positive for cystic fibrosis was told that her health insurance company would cover the cost of an abortion but would not cover the child under the family's medical policy if the mother decided to carry the pregnancy to term.
In the US, this discrimination is rampant because medical records are not private. Information about more than 20 million US citizens is held in a computerised database called the Medical Information Bureau. In order to take out life, health or disability insurance, individuals must consent to the insurance company searching their MIB records.
One person was denied mortgage insurance because it was discovered from his MIB file that he had diabetes. In another case, a woman from Massachusetts learned that her two older brothers have fragile X syndrome. Her two grown sons were unaffected, but she could be a carrier. It cost her $450 to have the test done privately so that the result would not go on her or her sons' records.
Eugenics
Prevention applied to genetics can imply eugenics; that is, preventing births among individuals who may pass on genetic diseases. The eugenics movement of the 1920s and 1940s advocated that people with mental retardation be involuntarily sterilised, along with others they considered "less desirable", such as Gypsies, Australian Aborigines and the Inuit people of North America.
In general, the transmission of genetic disorders creates no threat to society. However, under capitalism, the drive to cut public spending on health care may result in governments enacting legal limitations on the reproductive rights of people who are carriers of genetic diseases.
Of course, all of this leaves the Third World totally out of the picture. The overwhelming majority of people in the underdeveloped countries are unable to afford the expensive technologies, drug treatments or testing associated with genetic science.
All people have a basic human right to share in the results of research which can improve people's health and well-being. Yet, while a full understanding of the human genome will likely be achieved over the next few decades as the code is fully interpreted, the consequences of this profound leap in scientific knowledge will be, for the mass of humanity, either adverse or simply nil — unless the system within which this knowledge is being applied is fundamentally changed to give priority to meeting human needs.