Medical Geneticists

The EBMG makes clear that Medical Geneticists have to be trained in medical genetics and genomics, covering the full breadth of clinical diagnosis, familiarity with laboratory techniques, interpretation of data, and genetic counselling. The emergence of Medical (Clinical) Genetics is strongly tied to the investigation of rare diseases using the laboratory techniques which include a broad range of cytogenetic, molecular cytogenetic, and molecular genetic methods. Today, sequencing of the entire human genome is routinely available in many countries and facilitates the diagnosis of many conditions. Modern sequencing/genomic techniques also facilitate monitoring of the progress of common disease such as cancer, as well as many other areas of personalised medicine. In many situations, management and therapy of diseases, in particular of rare diseases, depend on a genetic diagnosis and on genetic investigations.

Medical (Clinical) Genetics, as a recognised medical specialty has kept pace with these advances in genetic technologies, which we now refer to as ’genomics’, and training encompasses the acquisition of knowledge, and development of skills, that equip a Medical Geneticist to both interpret and apply the outcome of ’genomic’ testing, not only for the individual patient but also for the immediate and wider family. This often involves confronting very sensitive personal and family issues, hence the importance of communication and counselling skills besides clinical competences. Indeed, no other medical specialty devotes time and energy to this area of knowledge and skills. Genomics is increasingly impacting all areas of medicine and healthcare, and a proportion of medical specialists in other disciplines will no doubt acquire some knowledge and skills in this field – but appropriate to, and limited to, their particular discipline or specialty.  There is an increasing need for Medical Geneticists, with their breadth of knowledge and skills in this field, who can function as a resource to other disciplines as well as being fully embedded in their own clinical practice.

The Union of European Medical Specialist (UEMS, www.uems.eu) has inaugurated a section of Medical Genetics in 2013 (www.uems-genetics.org).

The UEMS has the following key activities: Postgraduate training, Examinations, Continuing medical education & professional development, and Quality Assurance in Specialist Practice, all in line with the goals of the EBMG.

The EBMG together with UEMS Section of Medical Genetics (SMG) has developed a curriculum for Medical Geneticists (MDs), the syllabus and the training requirements have been approved by UEMS in 2017 (https://uems-genetics.org/Education.html). Both the training requirements and the syllabus are now under revision.

To ensure a high standard in genetic practice, the EBMG strongly recommends that Medical Geneticists ( (MDs) should undergo training and education (normally with a minimum duration of 4 years) consistent with the European curriculum. In addition, they should be able to demonstrate competences in the areas defined by UEMS SMG.

In 2019 the UEMS-SMG, in liaison with the EBMG and ESHG, launched a European examination for obtaining the European Certificate in Medical Genetics and Genomics (ECMGG), which is now offered annually (see www.uems-ecmgg.org).