European Commission releases recommendations on genetic testing 22/4/04. By the Public Health Genetics Unit A group from the European Commission (EC) has released a set of 25 recommendations on human genetic testing for medical purposes.

The EC Expert Group, chaired by Eryl McNally, comprises representatives from patient organisations, the pharmaceutical and biotech industry, scientists and academics from different disciplines (law, philosophy, ethics and medicine) with interests in genetic testing.

The 25 recommendations cover a range of topics from regulation, standardisation and quality assurance of genetic testing to ethical, legal and social issues. They call for universal standard definitions to be determined and adhered to, for the institution of a regulatory framework to assure standards of quality for all EU genetic-testing services (including a system of accreditation for genetic-testing laboratories) and test development. Educational and professional requirements in EU countries should be coordinated, with continued professional training offered for healthcare professionals.

It is proposed that medically relevant genetic testing should be considered an integral part of health service provision; but should never be imposed; the provision of key information, and in some cases specialised genetic counselling is considered an essential requirement for certain genetic tests.

With respect to serious rare genetic diseases, the expert group acknowledges that few countries have screening programmes and states that an EU-wide network for diagnostic testing of rare genetic diseases be created and financially supported as a matter of urgency, along with an EU-level incentive system for the development of genetic tests for rare diseases. Where treatment is available for such diseases, EU Member States should introduce universal neonatal screening as a priority. Measures to ensure that appropriate genetic testing is available for all patient populations (such as different ethnic groups, or different sexes) are also proposed.

The group suggests that 'genetic exceptionalism' (the notion that genetic data are different from other forms of medical information) should be avoided throughout the EU, although it is acknowledged that public perceptions that genetic testing is different exist and need to be addressed. The working group underlines the importance of knowledge dissemination in the arena of genetic testing, and calls for the allocation of resources for public education and the organisation of opportunities for public dialogue between different stakeholders. It is stressed that the confidentiality and privacy of test results must be maintained, and that measures to protect individuals against discrimination on the basis of personal medical data including genetic data should be instituted.

Additional recommendations are that the EC should fund research relating to the impact of genetic testing on social, cultural and economic aspects of healthcare provision, that the EU should establish and support a framework for partnerships between different stakeholders (such as scientists from industry and academia) and that development of the field of pharmacogenetics should be actively encouraged.

Article courtesy of the Public Health Genetics Unit .

Photo credit: Wessex Reg. Genetics Centre

Further reading

European Commission Expert Group: '25 recommendations on the ethical, legal and social implications of genetic testing' [PDF 580KB]