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BIOETHICS AND HUMAN POPULATION GENETICS RESEARCH

(Chee Heng Leng, Laila El-Hamamsy, John Fleming, Norio Fujiki, Genoveva Keyeux, Bartha Maria Knoppers, and Darryl Macer)

I. Population Genetics

I.1 What is population genetics ?

Population genetics is a discipline studying genetic variation in defined populations, including relevant aspects of population structure and geographic variability of DNA sequences and their frequencies.

I.2 Main trends in population genetics research

I.2.1 Genetic epidemiology

Isolated populations are the main source for observation of genetic forces acting in human evolution. Pedigree information can be used to observe migration, to measure the mean- inbreeding coefficients, or to trace the linkage of disease. The method used to make a pedigree sheet, and the information sought, depends upon the objects of investigation, the quality and quantity of basic data, and their purposes.

I.2.2 Genetic screening

Population genetic studies are not new, but the technology and level of analysis has evolved very quickly. The large-scale genetic studies that have been carried out often survey large groups that are anonymous in character, but some studies have been conducted on sampled individuals from target populations.

I.2.3 Spatial and temporal variation

More recently, molecular biology has enabled geneticists to work out the spatial and temporal variation of gene frequencies. Genetic diversity is increasingly being seen in a much broader context. Only a multidisciplinary approach to this issue is capable of providing a re-evaluation of cultural and genetic diversity of the targeted populations.

Many research projects have been launched independently of one another in different countries; others, such as the Human Genome Diversity Project (HGDP) are conducted at the international level. The scientific goals of the HGDP are to investigate the variation occurring in the human genome by studying samples collected from populations that are representative of all of the world’s peoples and, ultimately, to create a resource of biological samples as well as a genetic and statistical database. The Project should also favour the development of local laboratories where the genetic samples will be collected and analysed.

II. Ethical issues of population genetic research

II.1 Philosophical basis

The ethics of population genetics should be formulated with reference to the minimal agreed human values as expressed in international human rights law. These values are based upon recognition of the inherent dignity and of the equal and unalienable rights of all members of the human family.

The ethical framework within which scientific research is conducted should also be in accordance with the ethical norms current in the culture where the research is being conducted, recognising that the degree of importance accorded to communitarian values varies according to countries, populations, and groups.

II.2 Research approach and methodology

The importance of obtaining consent from a study population is well recognised. The doctrine of informed consent is applied to both medical treatment and to research. The obligations that must be achieved include accurate delivery of information together with the disclosure of relevant risks and benefits to the individuals and communities involved, in language that is accessible to the potential research subjects, and having regard to the legitimate cultural and religious needs and aspirations of particular communities, especially in the way in which consent is ultimately given. It is essential to take into account the fact that individualised notions of obtaining consent which tend to dominate in liberal Western societies cannot be applied with impunity to other cultures.

The participation of the study group in various stages of research is one good way of keeping open communication and of developing trust between researchers and research subjects. Such participation may take various forms depending on the situation, but it must take into account not only matters of scientific interest, but also the ethical, social, and ideological impact of the project on the group.

II.3 Utilisation of research results

The utilisation of research results in population genetics raises several ethical issues. Questions of confidentiality and of the respect of individual privacy are related to the problem of who should be in control of the information collected and the necessity of maintaining anonymity of subjects.

Patenting has become an issue of population genetics notably in relation to the patenting of products derived from the genetic material of indigenous people. Such patent applications have served to cast deep suspicion on the motivation behind human population genetics research in general: the possibility is that products derived from genetic material collected in population genetics research could be patented for commercial purposes. Financial benefits derived from the results of such research should be regulated by a legal system of protection.

Financial returns are not the only form of benefits of research results that could be returned to the subjects of research. Perhaps a more important aspect is the return of information and research results to the communities from which data was collected. The most poignant problems of many populations involved in population genetics research is in the realm of public health.

III. Public understanding

III.1. Ideologies

Public attitudes to population genetics are often biased by social ideologies, racism, and eugenics, and can lead to stigmatisation (as when population groups in which there is a high incidence of genetic disease are selected for scientific investigation) and genetic reductionism. When misunderstandings occur, participating scientists, potential research subjects, and pressure groups need to be sufficiently open to one another to allow for discussion. If scientific research is systematically to serve the human community in an optimal manner, scientists must be attentive to the values that human beings wish to defend and that they regard as essential for their well-being.

Conclusions

Having examined the ethical issues particular to population genetics, their philosophical basis, their research methodologies, the possible utilisation of research results, and, most importantly, the need for education because of fears of identification and stigmatisation through selection, of discrimination through participation, and of possible eugenics through interpretation, it seems that the following issues are crucial to ethical review of population genetics research at institutional, regional, or global levels:

  1. accessibility to populations ;

  2. consultation with populations ;

  3. individual and group consent mechanisms ;

  4. on-going ethical review ;

  5. inclusion of representatives of populations in decision-making ;

  6. communication, education, benefits, and feedback strategies at the population level ;

  7. confidential data and sample banking ;

  8. continual scientific review and monitoring; and finally,

  9. appropriate sanctions.