ARCHIVE: Working Groups of PHGEN I

Working Group No.1 - Definitions

Public Health Genomics is a relatively new field of research which integrates the knowledge from various disciplines. The secretariat of PHGEN has compiled definitions on common terms used in public health genomics and has assembled a glossary with the aim to support the multidisciplinary communication. A short version of this glossary is already published in the thematic issue on Public Health Genomics of the Italian Journal of Public Health and will soon be available in a more comprehensive version on this website. The publication and approval of the glossary marks only a preliminary end of the work. The glossary will continue to grow and it will be changed and remodelled in the years to come. The glossary can be accessed here.

For further information please contact:

Tobias Schulte in den Bäumen

Nicole Rosenkötter

Working Group No.2 - Genetic Exceptionalism

What is the status of genome based knowledge? Is it exceptional as compared to other person medical information? Does it make a difference if one gets medical information by molecular genetic diagnostics or by using family trees? These are basic questions discussed in this working group. A statement is currently being drafted.

For an introduction to this topic see the following presentation of Dr. Peter Schröder from the PHGEN kick off meeting here.

For further infromation please contact:
Dr. Peter Schroeder

Working Group No. 3 - Issues and Priorities

“Public health is a social and political concept aimed at the improving health, prolonging life and improving the quality of life among whole populations through health promotion, disease prevention and other forms of health intervention [WHO 1998].” To determine the health needs and threats of a population public health takes different determinants like personal-, social-, economic- and environmental ones into account. Despite these factors public health will be in demand to pay attention to new genomic knowledge, which becomes more and more important as an analysable and interpretable part of health and diseases.

The working group “Issues and Priorities” thinks about the topics which have to be considered for the integration of genome-based research and knowledge into public health policy and practice. What are the issues and priorities for public health genomics? Several keywords like population based research, biobanks, genetic testing, consumer protection, genetic literacy, education of public health professionals and the public will be discussed and specified within this working group. The document can be accessed here.  

For further information please contact:

Prof. Dr. Angela Brand MPH

Nicole Rosenkötter


Additional Working Groups in the Policy Development Phase (February 2007-December 2007):

Working Group No. 4Cross Sectional Working Group on Legal Aspects (Coordinators: Tobias Schulte in den Bäumen / Ingolf Pernice). The document can be accessed here

Working Group No. 5: Cross Sectional Working Group on Ethical Benchmarks (Coordinators: Peter Dabrock / Peter Schröder). The document can be accessed here

Working Group No. 6: Policy Development for Education and Training (Coordinators: Hilary Burton / Ron Zimmern). The document can be accessed here

Working Group No. 7: Policy Development for Genome-Based Knowledge in Health Services (Coordinators: Jean-Jacques Cassiman / Walter Ricciardi). The document can be accessed here

Working Group No. 8: Policy Development for Public Health Assessment (Coordinators: Angela Brand / Finn Kristensen). The document can be accessed here

Working Group No. 9: Policy Development for Public Policy and Stakeholder Involvement (Coordinators: Serdar Savas / Helmut Brand). The document can be accessed here


Find a Discussion Forum for the Working Groups here:

+++   NEWS   ++   ACTIVITIES  +++

PHGEN I ended in March 2009. PHGEN II continued at Maastricht University and was led by Prof. Dr. Angela Brand. PHGEN II has officially ended on 30 November 2012 with the reporting period ending on 30 January 2013.


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PHGEN II as a Success Story, Biobanks and Personalized Medicine

PHGEN II has been selected as one of the success stories funded by the EU heath programs. The detailed report can be found here. PHGEN II has also been mentioned in the report of the European Commission expert group on biobanks and can be found here. Further our project has been pubished in the European Science Foundation's 'Personalised Medicine for the European Citizen' and can be found here.


Meeting of European Alliance for Personalised Medicine

Commissioner Dalli (speech) and Cyprus Minister Mavroyiannis launched in Brussels on 18 September 2012 the manifesto by the newly-formed European Alliance for Personalised Medicine (EAPM), which brings together patient groups, academia, health professionals and industry, as well as the European Commission and the European Medicines Agency. This news has been covered by APM Health and the European Parliament Magazine. Click here for the picture of our PHGEN coordinator discussing with Commissioner Dalli.


Guidelines Published

During the final meeting in April 2012 in Rome, the PHGEN II European Best Practice Guidelines for Quality Assurance, Provision and Use of Genome-based Information and Technologies have been officially endorsed as the "Declaration of Rome 2012" by the  European Member States as well as European key Institutions and Organizations such as EMA. The "Declaration of Rome 2012" has been published in the Journal "Drug Metabolism and Drug Interactions". It can be downloaded for free at the journal website here. Also a related editorial has also been published in the same journal which can be found at the journal website here. The "Declaration of Rome 2012" is the summary of the European Best Practice Guidelines for Quality Assurance, Provision and Use of Genome-based Information and Technologies produced in the form of 3 individual reports (QA, Provision & Use) by the PHGEN II consortium. These 3 parts can be accees below:

Part I: European Best Practice Guidelines for Quality Assurance of Genome-based Information and Technologies

Part II: European Best Practice Guidelines for Provision of Genome-based Information and Technologies   

Part III: European Best Practice Guidelines for Use of Genome-based Information and Technologies   


PHGEN II Extension Granted

Given the success of the project and realizing the deliverables go beyond the current deliverables, the PHGEN II project has been granted a 6 months cost netural extension by the EAHC. Therefore, the project will continue till the 30 November 2012. Originally the project was till 30 May 2012.


PHGEN II Final Meeting Rome

The PHGEN II final meeting (endorsement panel) took place in Rome, Italy. It was a success. Further information can be found here.

PHGEN Definitions

PHGEN II has released the definitions list which will be used as the guiding tools for the development of the guidelines. These constitute definitions developed during PHGEN I as well as new definitions. This can be found by clicking the link here.


The 3rd and final Steering Committee Meeting of PHGEN II took place on 23 February 2012 in Maastricht, The Netherlands. Further information can be found here.


ITFoM is one of six pilot projects in the European Future and Emerging Technologies Flagship scheme. These projects are vying for €1 billion funding from both the European Commission, Member States and other sources over ten years in order to generate a scientific revolution. Further information can be found from here.


Old information and news of PHGEN II can be found in the Archives here.



Public Health Genomics Journal
(Journal published in collaboration with GRaPH-Int)

'Public Health Genomics' is the first peer-reviewed international journal to focus on the translation of genome-based knowledge and technologies into public policy, disease prevention and the improvement of population health. It is a multidisciplinary bi-monthly forum containing conceptual and original research articles, editorials, reviews, short communications, country reports, case studies, viewpoints, news and various other features about the nature of public health genomics and related concepts.

For more details please visit

PHGEN II is currently also developing a Wiki. This can be accessed here

PHGEN II is coordinated by the Institute for Public Health Genomics (IPHG) at Maastricht University.  The publication list contributed by partners of PHGEN II can be found here.

The IPHG coordinated the bachelor's program Public Health Genomics. The output of the successful course was a report made by the students with supervision from their supervisors. The report can be found here.

Up coming Events

PHGEN II events have now officially ended.