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Project PHGEN II

A genome is both the comprehensive blueprint of the individual organism and the entirety of an organism's hereditary information. In other words, it is an inbuilt information system in the human body and plays a key role in the understanding of any disease, including hereditary ones.

Personalised medicine can offer tremendous opportunities for better care. For example, if it is able to target the right patient for certain medications, side effects can be reduced, thus avoiding much suffering and in addition waste of money. In other words, the right diagnosis and therapy at the right time for the right patient.

To develop a common understanding of public health genomics in the EU, the Public Health Programme funded a project called PHGEN I. This project was an initial networking exercise and identified the need for European coherent guidelines in health genomics. PHGEN II has built upon the work of PHGEN I by producing the first edition of these guidelines.

Guidelines published

The PHGEN II’s ‘European best practice guidelines for quality assurance, provision and use of genome-based information and technologies’ were officially endorsed as the ‘Declaration of Rome 2012’ by all European countries as well as European key institutions and organisations such as the European Medicines Agency (EMA).

A brief summary of what the guidelines cover:

  • Research – Promote funding for research to produce neutral and trustworthy information.
  • Health monitoring – Develop prospective surveillance systems for personal health data.
  • Diagnosis and investigation – Better diagnostics to identify which information is relevant to an individual.
  • Information, education, empowerment – Promote health literacy amongst all stakeholders, to enable citizens (including health professionals) to access, understand, appraise and apply information for the benefit of individual citizens and their communities.
  • Policy development – The guidelines will assist all EU countries with evidence-based guidance on the timely and responsible integration of genome-based information and technologies into healthcare systems for the benefit of the populations’ health.

Genome-based technologies can play an important role not only in treatment and diagnosis but also in the prevention of illness. Future PHGEN activities will continue to build on previous work and to improve on further developments indicated in the guidelines. In the long run, PHGEN II aims to serve as an ‘early detection body’ for scanning, fact finding, and monitoring of the integration of genome-based knowledge and technologies into public health.

More Information:

Health-EU – Research

European Commission – Public Health – Screening and genetics

European Alliance for Personalised Medicine