Genetics recognised as medical speciality in EU

For many European citizens, having a genetics department in their public hospital is the norm. The geneticists in this department undertake tests, interpret them and make a diagnosis; they also provide counselling for patients and their families. But in countries such as Spain, Greece and Belgium, genetics has been an unrecognised specialty: that is until the Commission finally recognised medical genetics as a speciality in the European Union on 3 March 2011.

Milan Macek, President of the European Society of Human Genetics (ESHG), a major stakeholder in this process, is very satisfied and proud of this adoption that comes after years of advocacy. This was one of the top priorities on his agenda. In the EU countries where this medical speciality was not recognised, genetic testing was done by a variety of medical departments. In Spain, for example, standard laboratories would undertake the tests and the patient would benefit from no genetic consultation or genetic counselling. “Lack of knowledge of genetic diseases would lead to needless tests and wrong genetic advice,” says Rosa Sanchez, who is a former President of the Spanish National Alliance, FEDER and is now Vice-President of EURORDIS. 

The regulation states that medical genetics is a speciality that responds to the rapid development of knowledge in the field of genetics and its implication in numerous specialised fields, such as oncology, foetal medicine, paediatrics and chronic diseases. “Genetic disorders have a global implication: when a patient is diagnosed with a genetic disease, geneticists have to explain the origin of the disease, discuss how it can affect the family at large, present and future, and arrange for a complete and multi-disciplinary medical support,” explains Ségolène Aymé, director of Orphanet and a geneticist herself. She has been advocating for years to get medical genetics recognised as a speciality and has been a member of the European Society of Human Genetics (ESHG).

“Medical genetics plays a growing role in screening and in the prevention of numerous pathologies.” This new regulation is critical also for the training of professionals and the organisation of related services. It states that to ensure “a sufficiently high level of medical training, the minimum period of training required for the medical speciality of medical genetics to be automatically recognised should be four years.”

Saying that medical genetics is crucial for rare diseases is an understatement. Without this field, many rare diseases would still go undiagnosed. The knowledge geneticists have of rare diseases aids the entire medical and scientific community. “When the Human Genome project started, geneticists were the first to come forward with their studies, their cases and their data. They dealt with rarity, with rare diseases and these rare diseases would help understand our DNA,” says Ségolène Aymé.

Genetics and geneticists have modified the way research and medicine work. Geneticists elaborated the first databases; they were pioneers in making their literature accessible, their holistic approach is well regarded, and they are keen to share their data.

In countries where genetics have not previously been considered a medical speciality, many doctors and medical specialists believed that they could give genetic counselling in their own field. “This is not true. Genetics is different and a specific field. I would always say in my lectures advocating for this regulation that it is unethical to deny training for geneticists,” states Ségolène Aymé.

Still, Milan Macek states that there is much more to do. “There are significant challenges in front of us, in that we need to achieve the same status also for laboratory genetics speciality and for genetic nurses/counsellors. The ESHG wants to stress that it acknowledges that these specialities are as important as clinical/medical genetics and that these constitute integral components of comprehensive provision of genetic services.” 

This article was first published in the June 2011 issue of the EURORDIS newsletter

Author: Nathacha Appanah
Photo credits: © Inserm/Patrice Latron; Milan Macek