Genetic and molecular science:
The results of the Human Genome Project are beginning to reveal the identities and functions of some of the genetic determinants of health. New technologies and applications for healthcare are being developed. These include: better characterisation of disease at the molecular and cellular level; genetic testing for diagnosis of inherited disorders; therapeutic advances such as pharmacogenetics; and new approaches to drug design and development.

Population sciences:
Genetic determinants of health do not act alone. They combine in complex ways with each other and with environmental factors to determine if and when disease will develop, as well as its severity and progression. In order to understand these interactions, research is underway in epidemiology and the other population sciences. For example: genetic elements are being included in existing epidemiological studies on the causes of disease; genetic factors are a key part of new cohort studies such as the UK Biobank; and there are new international initiatives in the systematic review and meta-analysis of genetic association studies, in order to build a robust evidence base.

Humanities and social sciences:
A scientific understanding of the roles of genetic and environmental factors in health and disease is not sufficient, on its own, to ensure benefits for population health. Many other issues arise that must be taken into account in formulating public policy for genetics. These include: legal and regulatory frameworks for genetic testing; the funding of science and the prioritisation of relevant research; consent, confidentiality, data protection and the use of human tissue; attitudes to the pharmaceutical and biotechnology industries; patenting of genes and genetic sequences; and education and training of health professionals and the public.

Public health genetics integrates knowledge from all of these fields and applies it to promote the development of public policies and programmes for the benefit of population health.