The IGTP organizes the VI Interhospital Conference on Genetics in Catalonia

- Conferences

The VI Interhospital Conference on Genetics in Catalonia was held on Monday, organized by the Germans Trias i Pujol Hospital (HUGTiP) and Research Institute (IGTP). This annual event has been a meeting point for geneticists from a variety of Catalonia's hospitals and research centres since 2017. The main problems, advances and challenges of the genetic future are shared and discussed.

The welcome speech was given by Dr Jordi Barretina, IGTP director, and Dr Oriol Estrada, director of assistance strategy and innovation of the North Metropolitan Territorial Management. The conference was divided in three parts: the first one tried to answer the question of how should genetic variants be classified based on the altered gene, with several talks and a round table. Among the expert panels for the classification of variants in the genes associated with diseases, it is worth noting the participation of Dr Elisabeth Castellanos, coordinator of the Clinical Genomics Unit of the Northern Metropolitan Clinical Laboratory (LCMN) of the HUGTiP and associate researcher of the IGTP, which focused on neurofibromatosis and schwannomatosis. Dr Hilde Brems, from KU Leuven (Belgium), presented the ClinGen program, an NIH resource dedicated to promoting improvements in diagnosis and patient management based on genomic medicine.

The second part discussed clinical cases and collaborative experiences between centres. Different aspects of diagnosis and genetic counselling were reviewed. The third part served as an update on the state of genetics in Catalonia and Spain. Dr Cristina Mallol, in charge of the Minority Diseases program of the Department of Health of the Generalitat, Dr Carmen Ayuso, head of the genetics service in the Fundación Jiménez Díaz, and finally Dr Ignacio Blanco, from the HUGTiP and clinical director of the LCMN, who talked about the portfolio of services in genetics of the Ministry of Health, all intervened in this last segment. The event was closed by Dr Castellanos and was followed by the talks of the main sponsors Illumina, Thermofisher and Reference Laboratory Genetics.

"This conference was a success both on a scientific level and in terms of participation. After the COVID-19 pandemic, the professionals who work in genetics were really looking forward to seeing each other in person and being able to discuss findings, challenges and future projects in which to collaborate" states Castellanos, from the organizing committee.

"Genetics and genomics ought to help us transform the healthcare process. This conference shows us that the different Catalan care centres are ready to meet this challenge with a spirit of collaboration and continuous improvement. All attendees recalled the importance of clinical genetics and the professional role of genetic counselling. We cannot continue to be the only European country without a specialty in clinical genetics" adds Blanco, also on the organizing committee with Jordi Barretina and Harvey Evans (IGTP).