Medical, clinical, or human genetics, the same medical subspecialty under different titles in Europe, has historically been associated with rare diseases, syndromes, cytogenetics with a quite reduced amount of knowledge about our genes and genome. Over the years, mainly after the Human Genome project, developments have extended the remit of genetics into most other medical disciplines and the boundaries between genetics and mainstream medical specialties have often become less clearly defined in several aspects. The importance of molecular genetics has grown, not only from medical genetics departments, but also from other laboratory medical disciplines, such as biochemistry, clinical laboratory medicine, immunology and pathology; new and robust techniques have been arisen opening perspectives never seen before. The activities of the medical laboratory disciplines are merging in the utility of new molecular technology and the entire human genome can be sequenced and the results interpreted, both for diagnostic and for monitoring purposes common disorders such as cancer, and increasingly leading to an era of personalized medicine.
Genetic technologies, the genomics, is therefore increasingly impacting all areas of medicine and healthcare. However, clinical skills and specialized knowledge are required for the application of these technologies. Clinical geneticists are specifically trained to utilize and interpret these new genomic technologies in the context of the patient and the wider family. They are also trained and equipped to provide appropriate genetic counselling, and consider the social and ethical implications that are a consequence of using genomic, as well as established genetic, technologies. As medical doctors within the specialty of medical, clinical, or human genetics we are proud about that we have the broadest training of all medical specialists in both clinical and molecular medicine and are experts in interpreting genomic results in the context of clinical phenotypes.
In 2013 the Section of Clinical Genetics (SCG) was instituted at the spring Council meeting of UEMS, and it held its kickoff meeting in November of 2013, where the first board was elected by the representatives of 16 countries. The mission of the SCG, in harmony with the goals of the UEMS, includes to serve the medical professionals by promoting and assuring standards of excellence in medical genetics and genomics in all possible platforms of medical education.
The spread of the new genomic techniques has led to the dissemination of some services on the one side, but also has led to even some fragmentation as individual medical disciplines have dealt with their particular aspect of a specific genetic disorder as well. Our goal is to collaborate with all medical specialties, rather than create a competition between different stakeholders wanting to have the right to be the leaders or owners of clinical molecular medicine. Thus, we signed a Memorandum of Understanding (MoU) with the presidents of European Society of Human Genetics (ESHG), European Board of Medical Genetics (EBMG), and Presidents of National Human Genetic Societies (NHGS), as a base of the partnership of key player legal entries in medical genetics in Europe.
Since the institution of the SCG, we tried to setting up our daily and future standards of operation. The board has regular phone- and physical meetings, and section meetings that are held in association with the annual meeting of ESHG; we joined and actively participate in the work of CESMA and EACCME of the UEMS. We finalized some task necessary to the harmonized training and assessment, others are on the way. We established the Multidisciplinary Joint Committee of Rare and Undiagnosed diseases. Here we are now, and as moving forward, we hope to forge collaborative partnerships to promote the wise use of genetic and genomic knowledge with our geneticist colleagues, and with other medical professionals in the UEMS family.
Brussels and Pecs, 2015 Béla Melegh