Genomics

Genomics is the study of the total or part of the genetic or epigenetic sequence information of organisms, and attempts to understand the structure and function of these sequences and of downstream biological products. Genomics in health examines the molecular mechanisms and the interplay of this molecular information and health interventions and environmental factors in disease.

Human genomics is not the only part of genomics relevant to human health. The human genome interacts with those of a myriad other organisms, including plants, vectors and pathogens. Genomics is considered across all organisms, as relevant to public heath in human populations. In addition to genomics knowledge, we also considers technologies that make use of genomics knowledge.

Genomics is distinct from genetics. While genetics is the study of heredity, genomics is defined as the study of genes and their functions, and related techniques. The main difference between genomics and genetics is that genetics scrutinizes the functioning and composition of the single gene where as genomics addresses all genes and their inter relationships in order to identify their combined influence on the growth and development of the organism.

The role of human genomics research and related biotechnologies has the potential to achieve a number of public health goals, such as to reduce global health inequalities by providing developing countries with efficient, cost-effective and robust means of preventing, diagnosing and treating major diseases that burden their populations.

It is a new and rapidly evolving branch of science and the full future role of genomics for the provision of health care is far from clear. However, it does offer the long-term possibility of providing new approaches to the prevention and management of many intractable diseases. Hence it is important to prepare society for the complexities of this new field, to ensure that its benefits are distributed fairly among the countries of the world, and that the well-tried and more conventional approaches to medical research and practice are not neglected while the medical potential of genomics is being explored.

The global burden of disease and other health issues is disproportionately carried by low- and middle-income countries, while many of the emerging treatment options are available largely in wealthier nations.

Genomics is affected by this global health imbalance and is currently experiencing a substantial divide that is impeding the progress of genetic sciences in low- to middle-income countries. Global inequalities in the availability, quality and use of genetic technologies, genomic research as well as provision of genomic services are widening due to a multitude of reasons. These include a lack of financial resources, lack of health services and infrastructure or simply the presence of more compelling health priorities as in the case of infectious diseases like TB and HIV/AIDS.

Genome related technologies can contribute to improving global health equity. To do so, the genomic health divide must be kept in check and ultimately bridged through equitable economic investment, clinical research, and provision and use of genomic services and technologies globally. The exchange of existing information, expertise and technologies between the high income and low-income countries can speed up this process. The Human Genetics programme (HGN) provides WHO Member States with a clear understanding of the opportunities and challenges within genomics that are relevant to the achievement of their respective public health targets.