Communication is key in medical uses of genetic testing

The decoding of the human genome in the year 2000 has opened new doors in healthcare. It has made possible the detection of inherited disorders and vulnerability to diseases which can then be addressed at an early stage by adjustments in lifestyle and environment. A new branch of science, pharmacogenomics (an intersection between pharmaceuticals and genetics), studies how the differences in one's genetic makeup influences their response to medicines.

According to data from the Commission, more than 700,000 genetic tests are performed in the EU annually.

On the request of the Commission, a high-level expert group, comprising scientists, academics, as well as representatives of NGOs and industry, has delivered a 25-point recommendation on the use of genetic testing as a healthcare tool. The recommendations are divided into three parts: a general framework (eg public information and education), implementation of genetic testing in healthcare systems (including population screening, genetic counselling, data protection, rare diseases and pharmacogenetics) and genetic testing as a research tool (biobanks, informed consent, etc).

The recommendations of the expert group were discussed in a stakeholder conference, organised by DG Research, on 6-7 May.

Europeans are generally in favour of the medical uses of genetic information while they are less supportive of the public uses of such information, said a speaker, pointing to a Eurobarometer survey on Biotechnology (2002). ('Public uses' include access by police, government agencies and private insurance companies to genetic information.)

A speaker on the panel focusing on informed consent pointed out that value neutrality is difficult in medical practice. This panel concluded that patients need to receive advice and doctors should be allowed to venture opinions as long as these are not coercive. Trust is key between doctors and patients and doctors must be able to convey complex messages to patients in an easily understandable language.

Considering the ethical, legal and social implications of genetic testing, the expert group has called on society to ensure that genetic testing is a matter of free choice and that it is never imposed.