It is often said that pharmacogenetics (PG) could positively impact the drug discovery and development process allowing the customisation, selection, dosing, and route of administration of existing and new therapeutic agents thus facilitating a system of truly personalised medical care. PG might enable the pharmaceutical industry to significantly enhance the productivity of drug discovery and development. Moreover, PG may allow pharmaceutical companies to look again at drugs that have failed because of low response rates in the general population, targeting the drug at the people who respond best. In health care, PG could help reduce the overall cost of disease management for the individual and bring two main potential clinical advantages: minimised adverse effects and improved therapeutic efficacy.

As the application of PG is relatively young (although the term itself is around 50 years old), a comprehensive picture of the state-of-the-art in the EU in terms of research activities, commercial applications in drug development, PG-related market-industry structure and probable future developments has yet to emerge.  

Thus the aim of this study was three-fold:

1. To obtain a clear picture of the research and development situation of PG in the EU
2. To identify potential socio-economic issues around PG.
3. To identify potential barriers to development and implementation of PG applications in clinical practice.

The situation on PG research and development covers all PG applications. Although the main focus is the EU, R&D in the US and Japan will also be explored to give a global overview of research in the field and allow for some preliminary comparisons.

The study covered three work packages.

• Work Package 1: Global R&D activities with a mapping of public and private sector
• Work Package 2: Pharmacogenetics in clinical practice; analysis of socio-economic aspects based on the examples of TPMT- and Herceptin-2-testing
• Work Package 3: Regulatory Framework of Pharmacogenetics and Quality Assurance

Because the field of PG is very immature and many uncertainties exist, it was necessary to use different research methods to produce robust results such as: literature reviews, internet-searches, interviews with key-persons, e-mail survey, and patent analysis. Different methodologies were used in each work package

The project team was supported by a project-advisory board, which will gave continuous advice during the project and facilitate contact with actors. The board consisted of regulatory bodies (EMEA), academia and industry.

Status:
Finished 9/2004  - 10/2005

Client:
Joint Research Centre – Institute for Prospective Technological Studies, Sevilla, Spain 
http://www.jrc.es

Partners:

• Dr. Michael Hopkins; SPRU Science and Technology Policy Research, University of Sussex, Brighton, UK
• Dr. Christien Enzing; TNO Centre for Technology and Policy Studies, Delft, NL
• Dr. Jim Ryan; CIRCA Group Europe, Dublin, Ireland

Publications:
Building effective institutional frameworks to support European pharmacogenetic research: an international empirical analysis. Published in the International Journal of Biotechnology.

Sythesis report:
Eleni Zika; David Garwith; Dolores Ibarreta (2006): Pharmacogenetics and pharmacogenomics: State-of-the-art and potential socio-economic impacts in the EU
Download: www.jrc.es/home/pages/detail.cfm?prs=1387

Report on Global R&D activities of PGx:
Gaisser, S.; Dreiling, M.; Hartig, J.; Hopkins, M. et al. (2005): Global R&D activities related to Pharmacogenetics and Pharmacogenomics.
Download: ftp.jrc.es/pub/EURdoc/eur22214wp1.pdf

Report on socio-economic aspects of PGx:
Enzing, C.; Akker-van Mark, E.; Detmar, S. et al. (2005): Case studies and cost-benefit analysis of HER2 and TPMT in four EU Member States.
Download: ftp.jrc.es/pub/EURdoc/eur22214wp2.pdf

Report on Regulatory and Quality Issues of PGx:
Hopkins, M.; Lewis, G.; Gaisser, S.; Ryan, J. et al. (2005): Regulatory and Quality Assurance Frameworks for PGx: A Comparative Study of the US, EU and Four EU Member States.
Download: ftp.jrc.es/pub/EURdoc/eur22214wp3.pdf