EuroGentest is a European network of excellence that aims to improve and harmonise standards for laboratory genetic testing services in Europe. The network’s six major units of work cover quality management, information databases, public health, ethical and legal aspects, new technologies and education.
As part of its remit “to improve the quality of genetic counselling services associated with genetic testing across Europe”, a public health unit working party recently issued a set of Draft recommendations of the minimal criteria for geneic counselling related to genetic testing. The draft recommendations have been circulated to European clinical geneticists and genetic counsellors for discussion and improvement.
The recommendations define both genetic counselling and genetic testing; they note that the latter is generally taken to mean cytogenetic, molecular genetic and biochemical tests carried out in genetic testing laboratories as part of genetic services. However, they acknowledge that a need for counselling may also arise in the context of other types of test (histological, radiological etc) for highly-penetrant monogenic diseases. The recommendations distinguish testing from population screening, and categorise five types of genetic testing: diagnostic, prenatal, preimplantation, predictive, susceptibility and carrier testing.
An important feature of the draft recommendations is that they suggest that, while specialist genetic counselling is vital in the context of, for example, prenatal or predictive (presymptomatic) testing for monogenic disease, it will generally not be necessary for susceptibility tests indicating an increased or decreased risk of a multifactorial condition, or for pharmacogenetic tests. This recommendation differs from those of several other international bodies, including the Council of Europe in its European Convention on Human Rights and Biomedicine, which mandate genetic counselling for all uses of genetic tests.
In an associated project to inform its recommendations, the public health unit working party commissioned a survey of the Regulation and practices related to genetic counselling in 38 European countries. The survey found that although most European countries do not have specific legislation on genetic testing, many have professional guidelines for genetic counselling, and other general legislation covering issues such as informed consent, data protection and confidentiality. Most respondents predicted a trend towards increasing regulation. Two-thirds of countries considered their genetic counselling services to be of high quality and well-organised but the remaining 13 were concerned by problems of poor training, lack of specialists, poor coordination and lack of formal recognition of the field.