United Nations Educational, Scientific and Cultural Organization
Human genetic data: towards an international declaration

Human genetic data will soon have a set of ethical guidelines - governing their collection, processing, storage and use - in the form or an international declaration developed by a Drafting Group of UNESCO’s International Bioethics Committee. This text will presented for adoption by the Organization’s General Conference in October 2003. Before that, it will be examined by a committee of governmental experts, who will meet at UNESCO Headquarters from June 25 to 27.

Human genetic data, gathered through biological samples (blood, tissue, saliva, sperm, etc.) play an increasingly important role in our lives. They are already providing answers to questions asked by judges and police: proof of paternity, identity of a sex criminal or an accident victim. In varying degrees, they also answer medical questions: genetic tests can already predict such diseases as Huntington’s chorea. Other, less conclusive tests – indicating only a predisposition – provide invaluable information for prevention. Research based on human genetic data is extremely promising: we can expect more tests of increasing reliability as well as new approaches for understanding and treating innumerable diseases.

As a result, human genetic data banks are multiplying. Given that today even the smallest hospitals possess, if not processed genetic data, at least a collection of DNA samples ready for processing, it is difficult to know how many banks exist. The largest, of them have already gone beyond the mark of one million data. The trend is irreversible and entire countries - Iceland and Estonia soon, Latvia and Tonga after that – have decided to undertake a genetic census of their entire population.

Human genetic data tell us a great deal, and promise to tell us much more. Yet, like many other aspects of the ongoing genetic revolution, they pose as many problems as they resolve. Many people fear that they lend themselves to uses that are contrary to justice and civil liberties, that they open the door to discrimination and to practices that inspired psychoanalyst Jean-Jacques Moscowitz to say that we are moving away from the study of kinship structures to stalking people (de la filiation à la filature).

In this rapidly evolving domain, the need to establish ethical guidelines had become urgent. UNESCO, which had already drawn up the Universal Declaration on the Human Genome and Human Rights, adopted in 1997 – therefore undertook the drafting of an international instrument on human genetic data.

At the request of UNESCO Dfirector-General Koïchiro Matsuura, a first outline of the text was produced by the members of a Drafting Group of the IBC, and was examined by the whole Committee during its 9th session held in Montreal (Canada) in November 2002.

The IBC had previously dealt with the subject of human genetic data and the outline draws on two reports: “Confidentiality and Human Data” (June 2000) and “Human Genetic Data: Preliminary Study of the IBC on its Collection, Processing, Storage and Use” (May 2002).*

An international consultation was then carried out on the revised outline of the text *. It was sent to UNESCO’s Member States, to scientific associations, and to a number of other organizations. As part of the consultation, a Public Hearings Day was held in Monaco last February 28 bringing together civil society groups and institutions representing indigenous people, people with disabilities and doctors, as well as the private sector.

After further revision by the Drafting Group, the text was submitted in April to UNESCO’s Executive Board, and to the IBC in May. It will be finalized during a committee meeting of government experts at UNESCO Headquarters June 25 to 27 (this could be extended to include June 28-29).

The following examples clearly illustrate the complexity of the problems that the declaration addresses.


  • 1)Because one of her parents had died of Huntington’s disease, a North American woman decides to take a genetic test to find out if she too will develop the neurodegenerative disorder. The decision is difficult: she has a 50 percent chance of developing the disease. A genetic counsellor advises her to take out life and health insurance before taking the test, because should the test prove positive, not only will she be condemned to illness, but she will no longer be eligible for insurance. No company will accept her if she discloses her “positivity”. And if she conceals it, she would be committing fraud, and the company could cancel her policies if the omission is discovered. One of her co-workers overhears the conversation when she is making the appointment for the genetic test, and mentions it to their employer. At first he is sympathetic and ready to help his employee. But the test comes out positive. The woman thus discovers she will get the disease, and tells a certain number of people. She is soon fired, despite having received several promotions and praise for her work over the previous eight months. Daunted by this turn of events, none of her relatives – her sisters, specifically – can bring themselves to take the same test.

    This sad story had its day in the North American press. It is true that much can be learned from it about the genetic tests that are gradually invading our lives.

    On predictive tests
    An estimated three to four thousand diseases (Huntington’s disease, cystic fibrosis, neurofibromatosis, Duchenne dystrophy, for example) are directly related to hereditary genetic alterations. More complex hereditary genetic alterations can increase an individual’s risk of developing common diseases (cancer, cardio-vascular disease, diabetes, etc).

    Many genetic tests exist that can identify these alterations or mutations. Kits usually costing between $100 and $200 are available for more than 400 diseases and hundreds of others will arrive progressively on the market. These tests are more or less reliable. The one for Huntington’s disease has the particularity of being categorical. If the test is positive, the person will develop the disease. The majority of other tests, such as those for certain cancers, give indications – examining genes reveals a predisposition, in other words an increased risk of contracting this or that disease – but they are only indications. It is possible in many cases to be predisposed to develop a disease and never actually develop it.

    On Huntington’s chorea (or disease)
    To better understand the dilemma experienced by the American woman who had to decide whether to take the test, it has to be kept in mind that this degenerative disease is extremely serious (physical and mental deterioration leading to loss of autonomy). It is often an adult-onset disease, with symptoms appearing between age 35 and 45. There are experimental treatments (notably neuron transplants) but for the moment all that can be done is to limit the effects of the disease and prolong the patient’s life while maintaining them as long as possible in their familiar, home environment. Obviously the announcement of a positive diagnosis is traumatic for the person concerned and their entire family. According to a survey cited in the Privacy and Human Rights Report 2002 (by the Electronic Privacy Information Center and Privacy International), only 66% of those at risk of developing the disease said they wanted to take the test, and 15% of the group stated they would commit suicide if the test was positive.

    On discrimination and insurance
    The economics of insurance is based on the fact that it is not individuals who are being insured but groups. For each accident or illness, there is a given statistical risk (which may have to be adjusted according to the person’s age). The whole system depends on the good faith of the contracting parties. If a large number of people ask for life insurance because they have learned that they have a higher than normal risk of getting cancer, it throws the system out of balance. Insurance companies say they fear these “fraudulent” clients, but they are not at their mercy: they can try to prove that the insured person cheated by neglecting to inform them of test results that changed his or her situation.

    The scales can also be tilted in the other direction, posing a different threat. Insurance companies can be tempted to use the increase in genetic testing to their own advantage.

    Without going as far as to impose the tests on their clients, they can incite them to get tested by offering lower rates. We would then end up with insurance at two, or even three, levels: clients at risk (those with a revealed predisposition to a serious disease or refusing to take the test) who would pay the top price, and clients who were lucky enough to draw a winning number in the genetic lottery – no increased risk of serious disease – and who would get the best prices from the insurance companies.

    On discrimination by the employer
    It seems obvious in our example. But it could have taken another more insidious form, with the employer waiting a little longer to get rid of the “problem” employee so that no one would suspect the real reason for firing her.

    Discrimination can also take a more active form. In our example, the employer merely reacts to a test that the employee has freely chosen. But an employer can initiate genetic screening. Employees of the Ernesto Orlando Lawrence Berkely National Laboratory thus discovered (by chance, because they were not sent the results) that they were being screened: women were tested for pregnancy, Afro-Americans and Latinos for syphilis, Afro-Americans for the genetic trait for sickle cell disease. Railroad workers employed by the Burlington Northern Santa Fe Railroad also discovered that the company had used blood samples from at least 18 of them to screen covertly for a predisposition to carpal tunnel syndrome. This painful condition of the hand, is very common. It affects 5% of the U.S. population. Where it is recognized as a work-related disability, it is costly to employers. How far was the Burlington Northern Santa Fe

    Railroad prepared to go to limit spending on medical claims and sick leave.
    If certain policies deserve to be labelled discriminatory (for instance, firing employees who are “at risk” or blocking their promotion in order to cut costs, or to incite them to leave of their own accord) there are others that are harder to interpret. Where is the dividing line? Not assigning a worker predisposed to CTS to a job where he’ll have to operate a jackhammer can come under the heading of a preventive measure, taken for the worker’s own good. To also bar him from access to production lines can be justified (use of a pneumatic tool). Adding assembly lines (presence of a conveyor belt) and office jobs (typing) also makes sense, but begins to seriously curtail the employee’s ability to advance his career in the company. Why would he not also be banned from playing the violin in the company band, or making bread in the cafeteria?

    On refusing tests
    Discrimination by insurers and employers obviously discourages potential candidates from getting tested, depriving them at the same time of the advantages that early diagnosis can entail. Furthermore, because of this reluctance, scientists risk being deprived of valuable information. “In genetics research studies, we are seeing individuals who opt not to participate in research because of their fear that this information could fall into the wrong hands and be used to deny them a job or a promotion,” says Francis S. Collins, Director of the National Human Genome Research Institute (USA). Such mistrust is hard to measure. A study by the Association of American Physicians and Surgeons (AAPS) involving 344 doctors indicates a trend, however: 87% reported that their patients had asked that certain data not appear in their files, and 78% said they had complied with the request.

  • 2) A resident of Seattle (Washington) suffering from leukaemia is hospitalized in 1976 in a renowned university hospital in California. He undergoes a splenectomy (removal of the spleen) and within the many samples taken (blood, bone marrow, etc.), a researcher discovers a scientifically and commercially interesting substance. A patent is taken out which benefits five parties – the doctor, the hospital, a researcher, a genetic institute and a pharmaceutical company – but not the man whose cells contained the substance. He sues in a California court. The court upholds his claim on one count – lack of consent – but denies him a property right, as such a right would prevent scientists from gaining access to the cells they need. Various experts dispute the legal decision: some see the exploitation of another person’s body (similar to slavery) and illegal profit. What would be the outcome of a similar trial today? It would depend in fact on where the trial was held, as certain states such as Georgia and Oregon are more protective of the biological “owner”.

    On what is at stake
    A few years ago, the situation seemed simple. Scientists gave little thought to property issues. As long as the patient had consented to giving cells or tissues, they considered themselves at liberty to use them in their research. Today this is no longer a minor problem. Using human cells or tissues, or by analysing data derived from them, hundreds of biotechnological companies are competing in the race for tests or treatments. Millions of dollars are at stake, which explains the explosion in the number of genetic data banks. The economic importance of human genetic data can only grow. It would therefore be desirable to establish more precise rules.

    On consent
    The patient consented to have his spleen removed. But the consent applied only to the operation performed in 1976 in the context of his treatment for leukaemia. He was not informed of the fact that the doctor intended to use the removed organ for his research. Only much later (1983), and when the patient was becoming suspicious – wondering why he had to come all the way to California to give samples which could have been taken in his home town – was he asked to sign a waiver, giving up his rights to any kind of product that could be derived from his blood. After consulting a lawyer, the patient refused to sign. The discovery of a patent application, filed in 1981 by the doctor and other parties, resulted in the lawsuit.

    The court ruled in the patient’s favour on the consent issue. It is difficult to see how it could have done otherwise. The conditions for consent are normally that it is prior, freely given, and informed. In other words, (1) The person from whom the samples are taken must know in advance that the sample will be used to produce human genetic data. (2) He or she must be under no physical or psychological pressure (no threat of punishment or promise of gain). (3) He or she must understand to what end the human genetic data are being produced (possible advantages and disadvantages, guarantees stipulated). Consent must also sometimes be explicit, i.e. the purpose of the sampling must be clearly defined. In our example, there was obviously no explicit consent, and one can also conclude that it was not informed.

    On changing the objective
    It seems clear in our example. As far as the patient is concerned, the samples were taken with a therapeutic aim: to improve his care, evaluate his progress. The doctor’s objective was the same at the beginning, but he soon realized that his patient’s blood contained an interesting substance. This resulted in taking samples that were useful for research but perhaps not necessary for the patient. It also explained why the sampling had to be done in the doctor’s California hospital, to ensure a sort of exclusivity.

    Between a therapeutic goal and a research goal, there is often a fine line. Other changes of objective are more clear-cut. Imagine that a country decides to create a genetic data bank of all of its citizens – a bank aiming to help research and improve health care – but that the collected data is then made available to the police to hunt down criminals. Ethically, the change in purpose is not admissible. Politicians seeking popularity, however, might be tempted to propose it.

    On property
    Who owns what? Marie Curie never patented radium. She discovered it but did not invent it. One could say the same of genes – scientists discover them or discover one of their functions but they do not invent them. This has not prevented thousands of patent applications from being filed.

    More concretely, to whom does a sample containing genetic data belong? Simple common sense produces the first response: my blood (my saliva, etc.) belongs to me. But do they no longer belong to me once they are extracted from my body? Without claiming an absolute property right, do I not at least have a say in what use is made of my cells or a product derived from my cells? Sometimes this right is recognized: in the use of embryonic stem cells, certain legislations authorize research but demand the consent of the couple who, in the course of fertility treatments, provided one of their multiple embryos.

    On obstacles to research
    To deny the patient any right to the product discovered in his blood, the California court concluded that recognizing such a right would prevent scientists from having access to the cells they needed. Collective interest – in this case, medical progress – prevails here over individual interests. Questions can be raised, however. Was it truly collective interest? The case can also be seen as conflict between two individual interests, of the patient and of those who took out the patent. More generally, one can also question the court’s giving ultimate value in the eyes of the law to scientific and medical utility. Such a principle can be laid down, but does it not call for wider reflection, involving the entire society concerned (through its legislators) rather than simply the deliberation of a few judges?

  • 3)Send us some of your saliva, you’ll be helping science and we will give you shares in our company! This surprising message circulated on the internet. A company based in Brussels (Belgium), named Spitters, wanted to create a genetic data bank that would be open to both state and private researchers. Its earnings would come from the pharmaceutical industry that would have to pay for access to the data collected. The DNA would come from millions of samples of saliva the company hoped to put in storage. The “donors” who wanted to receive shares in the company had, in addition, to fill out a medical questionnaire via internet. The company guaranteed anonymity. The start-up failed, as did the corporation it belonged to, Starlab NV/SA. After it filed for bankruptcy, 500 saliva samples were put up for sale at auction, along with the office furniture. (In fact, the sale never took place.)

    On samples
    We do not normally pay much attention to them. The scientific term “genetic data” often refers to mundane fragments: a drop of blood, but also a smear on an empty coffee cup, a tissue left on a table, a cigarette butt, wax scraped from a hearing aid. In the hands of laboratory staff, these little scraps are sufficient to draw up a DNA code. Police looking for evidence are obviously gratified to have such a resource made available to them. The situation is more troubling, however, when one considers the existence, again on the internet, of ads for genetic tests, notably paternity tests, which are performed in dubious conditions. When certain labs guarantee anonymity, they mean their client’s, the person who sent them the used tissue or hairs from a brush, but they give little consideration to the rights of the person from whom this sample was taken. That person
    has not given his consent, and his anonymity is probably at risk: when someone is trying to prove someone’s biological paternity, it is often in order to sue him.

    On consent
    Spitter and Starlab had everything going for them. Well-known scientists were involved and the company, though unusual, presented all necessary guarantees of reliability. However, people who gave samples of saliva thinking they were contributing to scientific research came close to seeing their “donation” – which had become part of the company’s assets – sold at auction, possibly to be used to a completely different end. This did not happen, but it illustrates a more general problem concerning consent and ultimate objectives.

    If someone agrees that genetic data from his or her sample can be used for a certain purpose, it is disturbing to see the data being put to another use unless he or she has again been asked for consent. It is rarely talked about, but a lot of genetic data collected for a specific temporary use ends up in different hands. When a husband gives a sperm sample to help police investigating his wife’s rape, he believes that the sample (used in a process of elimination) will be destroyed, along with the genetic data extracted from it. In many cases, he is wrong: the data end up in police files where suspects, non-suspects and even victims end up together, simply for technical reasons. (It is easier to do a computer search on all the profiles than it is to take the necessary steps to separate them.) This is true of many data banks. When a fireman, knowing he could die in the line of duty and wanting to spare his family pain, gives a blood sample to facilitate the identification of his remains, he does not know that the companies running the DNA banks sometimes sell data to laboratories.

    The most pessimistic add to this inadequately controlled distribution of our genetic data an extra risk, that of computer piracy. According to a Canadian study of 35 very diverse banks, fewer than 40% of them were adequately protected against this danger.


    (*) Reports and the revised outline of the text are available at: www.unesco.org/ibc

    Author(s) UNESCOPRESS
    Source Feature No 4 - 2003
    Generic Field
    Editorial Contact: Pierre Gaillard: Office of Public Information, Editorial Section. Tel: 33 (0)1 45 68 17 40
    - Email p.gaillard@unesco.org
    Publication Date 25 Jun 2003
    © UNESCO 1995-2007 - ID: 13155