What is public health genomics?

Public health genomics has been defined as:

The responsible and effective translation of genome-based knowledge for the benefit of population health. (Bellagio workshop, April 2005)

It is a new field within public health that combines knowledge from genetic and molecular science with insights from the population sciences and the humanities and social sciences. It uses this integrated knowledge to develop programmes and policies aimed at protecting and improving the health of the population.

The Bellagio workshop developed a visual representation of the ‘enterprise’ of public health genomics:

In the diagram, the key components of the ‘enterprise’ of public health genetics are shown in blue. The diagram emphasises the use of an integrated knowledge base to underpin four core activities:

• service development
• education and training
• informing public policy
• communication and stakeholder engagement

The knowledge base for public health genomics

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 genomics 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.

For a list of the key journal papers informing the field of public health genomics, as selected by members of the Bellagio workshop, click here.

Key challenges and opportunities for public health genomics

Intellectual challenges
Opportunities need to be created to ensure that all public health professionals become genetically literate with a grounding in basic genetics, cell and molecular biology and an appreciation of their complexity. They should also understand:

• that genetic factors are important health determinants
• that disease susceptibility is a consequence of gene-gene and gene-environment interaction
• that the involvement of genetic factors does not necessarily entail determinism
• the basic principles of genetic epidemiology and their implications for population health
• the complementary nature of high risk and population approaches to disease prevention
• the ethical, legal, social and policy implications of genomics and molecular science

Practical challenges
Leadership in public health genomics within the UK should be provided by training between 10 to 12 specialists in public health genomics. This could be best done by seconding existing public health physicians for specialist training and creating specialist jobs when they return to their home region. The remit for these jobs should include input into the specialist commissioning process and contributions to the establishment of national and regional networks.

Service issues in public health genomics that will require attention in the following decade will include:

• the integration of genetic and molecular science into mainstream medicine
• the impact of system reforms on the commissioning of services for people with inherited disorders
• the evaluation and regulation of genetic tests and complex molecular biomarkers
• the organisation of molecular genetic and cytogenetic laboratories in the context of pathology modernisation
• the role of genetics in primary care and preparing the primary care workforce for the genetics revolution
• the development and evaluation of genetic screening programmes
• the training of non-specialist public health professionals in genetic literacy

Public health geneticists should also be involved in informing relevant policy issues. These include but are not necessarily confined to:

• intellectual property
• use of genetic data and human tissue
• partnerships with the commercial sector
• genetic biobanks
• stem cells, gene therapy and nuclear transfer technologies

At a national and international level, public health professionals should be aware of the impact of genomics, molecular science and biotechnology on the developing world.