Research policy

The Initiative on Genomics & Public Health



Genomics in WHO

Human Genetics Programme

WHO's Human Genetics Programme is housed in the Department of Chronic Diseases and Health Promotion (CHP), Noncommunicable disease and Mental Health (NMH) cluster.

During the past years, the Human Genetics Programme (HGN) has supported international activities on the development of medical genetics services in countries, the development of genetic approaches to the prevention and control of common hereditary and noncommunicable diseases as well as on establishing networks of international experts, programmes and centers in the field of medical genetics. These activities are materialized by several publications of books and report accessible on WHO website.

Following the 2008-2013 Action plan for the prevention and control of noncommunicable diseases, HGN has focused its activities in three main domains: Community genetics, Hemoglobin disorders (thalassaemia and sickle cell disease), and the Genetics of chronic diseases.

Community genetics is defined as “the art and science of the responsible and realistic application of health and disease-related genetics and genomics knowledge and technologies in human populations (communities) to the benefit of individual persons” (ten Kate et al. Community genetics, 2010). Community genetic services include a number of activities for the diagnosis, care and prevention of genetic diseases at the community level. Progress in genetics and genomics has provided new tools for the diagnosis, prevention and control of many genetic disorders. However, availability of community genetic services in low and middle income countries is still less than adequate. WHO HGN aims at developing guidance to help countries in implementing those services.

The 2006 WHO resolutions on thalassaemia and sickle cell diseases have raised the priority to Haemoglobin disorders at a global level. WHO HNG is now actively involved in the implementation of these resolutions at the global, regional and country levels, in partnership with WHO regional offices, NGOs and all the involved stakeholders.

Genetic risk factors in non-communicable diseases, including cardiovascular and chronic respiratory diseases, diabetes and cancers are among the determinants that could change the outcome of these disorders and should be identified and carefully monitored. WHO HGN is implicated in defining the research priorities in this domain, as well as promoting the means to achieve the goal of prevention of these risk factors.

Genetics and genomics are now key elements in various human diseases, but also in every day human live. This has raised a number of ethical, legal and social (ELSI) issues which should be integrated in the general appraisal of any question in this domain. WHO HGN has long been implicated in raising awareness on these ELSI problems among which, patenting of human genome, access to gene based therapies and other issues.

Partnership in this field is particularly needed. Genetic literacy should be improved, and providing educational tools for primary care heath professional, policy makers, the patients and the public will be one of the main objectives of HGN.

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