By Ludger Wess

BioWorld International Correspondent

MUNICH, Germany - The rapid pace of the human genome project has raised the challenge of identifying a plethora of mutations in disease-related genes through predictive and pre-symptomatic genetic testing.

In Europe, more and more laboratories have entered this field to participate in the fast-growing market. However, recent surveys have indicated that the quality of the testing is poor, and even unacceptably low. Therefore, a working group across Europe was created earlier this year.

"Many genetic and clinical chemistry laboratories have entered this field," Jean-Jacques Cassiman, head of the Center for Human Genetics at the University of Leuven, Belgium, said. "However, this uncontrolled and quite spectacular growth is not without drawbacks."

Strong competition, lack of experience and failure to invest sufficient time into test validation has contributed to the problem, as well as a failure to communicate correctly with medical practitioners.

Even after three years experience with genetic tests for cystic fibrosis-related mutations, European laboratories reached only 85 percent accuracy, Cassiman said. "But if even under optimal conditions the technical performance of many laboratories in just one disease is less than desirable, then it is quite clear that a single laboratory cannot handle the diagnosis of several hundred diseases, for which tests might be available soon."

He said he hoped national or European initiatives would be put in place soon to remedy the "potentially devastating effect, when wrong diagnoses are given to people suspected to be carriers of disease genes, or when a diagnosis is not followed by appropriate counseling, or when a suspect is unjustly put into prison."

Karen Rosin, head of the Department for Medical Law at Lund University in Sweden, told BioWorld Today that the identification of at-risk populations and the offering of preventive treatment strategies would be of substantial benefit for public health in the future. "However, considering that 35 percent of the laboratories in the EU make unacceptable gentotyping errors, there might soon be some scandal and a public outcry that can destroy the trust in DNA testing all together."

She added that current genetic testing fell outside of both the council regulation 2309/93/EEC for medicinal products, and the directive 98/79/EC for in vitro medical devices. "So far there is no directive in preparation," Rosin said, "and despite several quality assessment initiatives from professional organizations, genetic testing in Europe is subjected to very different conditions and regulatory frameworks. To promote the free circulation of genetic testing services within the EU, the implementation and harmonization of standards and regulations is highly desirable."

Following an initiative of the Institute for Prospective Technological Studies of the European Commission, a working group on the European level was formed to address the problem.

The Joint Research Center, EuropaBio and the European Society of Human Geneticists take part in the group, along with the European Standardization Organization.

"We don't call for legislation, but we are looking for rational attempts to solve the problem without hampering the development," Rosin said. "We want to ensure quality in the whole testing chain, from the successful identification of at-risk individuals to be tested to technical service, correct clinical interpretation, and to the clinical management and counseling."

A meeting open to all interested groups will be held in March.