Genomic resource centre

WHO's Human Genetics areas of work

Ethical, legal and social implications (ELSI) of human genomics

Recognizing the importance of ethical, legal, and social issues raised by developments in human genomics, WHO's Human Genetics has identified four priority areas of focus and is working in cooperation with partners toward socially just, caring and equitable health solutions and outcomes. Our four priority areas for the next four years include the ELSI of genetic patenting, genetic databanks, genetic testing, and pharmacogenetics. Among the issues raised by developments in genetics, some of the most complex and important involve the effects on vulnerable groups including impoverished communities or low-to-middle income countries, ethnic minorities, disability groups, women, children and economically disadvantaged persons.

With respect to genetic databanks, large-scale databases that store genetic information and DNA samples, the effects on vulnerable groups have not been adequately explored and issues in benefit sharing have not been sufficiently probed. Similarly, genetic testing, screening, and prenatal diagnosis raise questions about the distinction between normal and diseased, and whether all “genetic disorders” are “unhealthy”. Another worry for both genetic databanks and genetic testing is the potential for stigmatization of “afflicted” genetic groups. Yet, genetic testing, if implemented well, can also provide the means to improve individual health decision-making and opportunities for prevention or better health management.

Further, the proliferation of genetic patents raise concerns about access to and the affordability of genetic treatments and services, especially for economically impoverished communities, and the future of health innovation. Scientists around the world argue that there is an urgent need to respond to ethical issues in genetic patents in order to avoid serious obstacles to scientific data-sharing and medical progress. Yet, at the same time, solutions need to be balanced by a concern for promoting research and development progress and innovation.

In the area of pharmacogenomics, in which drugs and doses may be tailored to the particular biochemical composition of a patient, questions arise about the access and affordability of its benefits. Given that pharmacogenomics is still largely in the research phases, we need to consider whether the primary health concerns of vulnerable groups like women and children especially in developing countries are adequately represented in research agendas and in an inclusive manner.

Though such issues are fundamental to the development of appropriate policies at the national and international levels, no agreement exists on the right way to answer them. Moreover, given the fact that genetics research and regulation impact communities as a whole, it is crucial that civil society advocacy groups and health care officials are included in the dialogue and decision-making of WHO recommendations and tools.