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Recommendations on genetic testing for common disorders

Analysis of a study published in a science journal   |   By Dr Gurdeep Sagoo and Dr Philippa Brice   |   Published 11 February 2011
Study: Genetic testing and common disorders in a public health framework
By: van El C.G.,Cornel M.C.
In: European Journal of Human Genetics
What this study set out to do:

To produce a set of recommendations on the genetic testing of common disorders from a European-wide health-care perspective using a public health framework.

How they went about it:

The Public and Professional Policy Committee (PPPC) of the European Society of Human Genetics (ESHG), in collaboration with EuroGentest and the Institute of Prospective Technological Studies, held several workshops (see previous news) and wider consultation.


A series of recommendations were produced, including the points below.


  • Monogenic conditions can serve as examples for common complex diseases research and health service development.
  • Researchers should avoid overhyping the potential clinical applications of their finding.
  • There is an urgent need for proper evaluation of the translational potential of research in the genetics of common complex disorders; tests with proven clinical utility and cost effectiveness should be implemented first.
  • Implementation in pilot programmes with ongoing evaluation should assess uncertain clinical utility.
  • Qualified health-care professionals should be available to interpret genetic and other risk information and provide genetic counseling where applicable for genetic tests for common disorders offered directly to the consumer.
  • Regulation is necessary to guarantee accurate marketing of genetic tests as in vitro diagnostic devices; adaptation of the current IVD Directive could accommodate this.
  • Genetics in common disorders may lead to tailoring of health care to the needs of individuals or subpopulations. Stratified medicine will only be successful if health-care insurance is based on solidarity.
  • Governments have a duty to ensure equitable access to clinically useful genetic testing, especially in developing countries.
  • European member states should sign and ratify the European Convention on Human Rights and Biomedicine and secure privacy and non-discrimination regarding genetic information.

Our view:

The recommendations to boost reliable, evidence- based application and promotion of genetic testing for common complex disorders are sensible and timely; hopefully they will highlight the need for improved translation and the production of a sound evidence-base on the clinical validity and clinical utility. However, some of the recommendations seem over-zealous given the very limited predictive ability of such tests. People who use such testing should indeed be able to access accurate information on their utility and interpretation of results, but whether all the proposed measures with respect to genetic counselling, privacy and so on are proportionate is less clear.

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