Human Genomics in Global Health

The Human Genetics Programme: a brief history

The World Health Organisation advocates enjoyment of the highest attainable standard of health as one of the fundamental rights of every human being. To this end, WHO is concerned with providing international expertise and technical advice to countries in their efforts to initiate and manage national programmes of major health importance.

As early as 1963 an Expert Committee of WHO observed the importance of genetics in health considerations: “genetic considerations add a new dimension to public health work: a concern not only for the health and well-being of persons now living, but also for… generations yet to come”.


The first Human Genetics team at the World Health Organization was structurally situated in the Division of Biomedical Sciences. The main concerns at that time were haematological. These have continued to be important issues for WHO ever since. WHO international reference centres were created to standardize procedure and methodologies for population studies. As the advances in genetic technology and human genome research rapidly progressed, WHO set up the Hereditary Diseases Programme (HDP) in the early 1980s to support international activities on the development of medical genetics services. The advent of the international Human Genome Project in the 1990s added further stimulus and challenge for the Heriditary Disease Programme at WHO. Gradually, the Hereditary Disease Programme at WHO expanded its focus on the genetic approaches to prevention and control of major hereditary single-gene diseases (thalassemia, cystic fibrosis, haemophilia, hemochromatosis), congenital malformations and to common diseases with genetic predispositions.

The Hereditary Diseases Programme was successfully sustained and developed over the years and it was renamed the Human Genetics Programme (HGN) in 1995, as a part of the Division of Noncommunicable Diseases and Mental Health (NMH). The grouping of the Programme under NMH reflected the evolution of genetic discoveries in major noncommunicable diseases in particular cancer, diabetes, cardiovascular diseases and asthma as well as a concern for the ethical aspects of genetic service delivery.

Currently, HGN mainly focuses on

  • Providing countries internationally with updated information on medical genetics
  • Capacity building and technical advice on the development of genetic services and national genetic programmes to improve genetic health services
  • Promoting the progress and transfer of experience and knowledge through a global network of collaborating centres, NGOs, regional and country offices and other partners
  • Standardization of genetic technologies for disease control
  • Identifying and responding to the ethical, legal and social issues (ELSI) of human genetics
  • Developing genetic approaches for the control of major common diseases

To further develop and extend programme activities, the Human Genetics Programme mutually cooperates with NGOs and other international organizations. To facilitate such cooperation global networks of experts and centres were expanded to address multiple issues on human genetics at both the international and country level. Appropriate national programmes using WHO recommendations are now being developed in a number of countries in each of the six WHO regions. The provision of on-site support for the delivery of genetic services is part of the global WHO strategy to expand partnerships and collaboration especially with low- to middle-income countries.

As DNA technology evolves faster than advances in its clinical applications all over the world, WHO aims to improve channels for knowledge and technology transfer. Many concerned scientists believe that developments in the medical application of genomics will widen the health gap between countries. The World Health Organization strives to ameliorate global health inequalities. It aims to bridge the gap by recommending implementation strategies for genetic services. Furthermore, along with the rapid evolution of the human genome project, social engagement often does not keep pace with this research. Accordingly, the Human Genetics Programme is initiating activities in the ethics, legal, and social implications of human genetics. The strategy of the Human Genetics Programme has a dedicated ELSI agenda and bioethics team that works in cooperation with the Ethics, Trade, Human Rights and Law Department of the World Health Organization. The Programme responds to various genetic issues and opportunities as they arise in global arena of public health.

In recent years, the internet revolution has changed the face of communications in our world and is making global communications and networks faster and more far-reaching. The virtual Genomic Resource Centre is a new approach to WHO's contribution and support of public health all around the world. This will expand the possibilities for participation, public engagement, information exchange and representation, especially for low- to middle-income countries.