Genetic counselling is essential for the emotional management of non-oncological minority diseases in adults. In addition to the request and delivery of genetic results, the psychosocial and familial aspects of genetic counselling are also addressed in the consultation.
The Clinical Genetics Unit of the Bellvitge University Hospital (HUB), which is part of the South Metropolitan Territorial Clinical Laboratory (LCTMS), has established itself as a benchmark in the care of minority diseases. Specifically, it focuses on the care of individuals with hereditary diseases or suspected of suffering from one of them, as well as on the study of family members at risk. During its first year of operation, it has attended to more than 320 families.
The setting up of this Unit at the HUB has been very well received, given that genetic diseases have unique and special healthcare needs. In fact, they entail a specific approach with psychological, prognostic with psychological, prognostic and resource management connotations that are very different from other pathologies.
In order to guarantee comprehensive care with a correct evaluation of genetic results, the Unit is closely linked to the HUB's Minority Diseases Working Group, with a multidisciplinary approach to more than 200 rare pathologies.
Understanding the implications of genetics
The Genetic Counselling consultation sees patients and their relatives with suspected minority diseases that are caused by genetic variants in the germline, i.e. those present in the DNA that are passed on to the next generations. It is estimated that 80% of adult non-oncological minority diseases - affecting 1 in 2,000 people - are genetic in origin. There are currently more than 7,000 minority diseases.
"Genetic testing provides lifelong results with familial and generational implications that can be crucial in medical, social and life decisions," explains Anna Esteve Garcia, the genetic counsellor at the Clinical Genetics Unit of the Bellvitge University Hospital who leads this process. Among her responsibilities is to help individuals understand and adapt to the medical, psychological and familial implications of the genetic contribution of diseases.
In the visit, information about the genetic disease, the consequences for the patient and their family, and the risk of transmission or recurrence is conveyed. "Genetic counselling is essential before and after genetic testing and aims to accompany the patient during their autonomous decision-making process, which can produce high levels of anxiety, frustration, hopelessness and fear," adds the genetic counsellor.
Gene therapy, a medicine of the future that is already here
The Clinical Genetics Unit has established crosscutting synergies with specialists from other services at the Bellvitge Hospital for genetic disease monitoring and treatment. These include, for instance, hereditary retinal dystrophies, neuromuscular diseases, hereditary dyslipidaemias, hereditary haemorrhagic telangiectasia and cardiomyopathies, among others.
Likewise, the creation of the Clinical Genetics Unit will facilitate progress in the interpretation of genomic results, the development of protocols for action and support for research. "Thanks to the multidisciplinary nature and experience of the Minority Diseases Group, it will allow us to generate knowledge to develop gene therapies and even get to the origin of diseases in the future," says the clinical director of the LCTMS, Dr Núria Llecha. Thus, Bellvitge University Hospital is already working on therapies in ophthalmogenetics and neurogenetics, among others, based on the data collected.
Action within the PECT-II framework, "4locaLHealth"
The creation of the new Clinical Genetics Unit at the Bellvitge Hospital is part of one of the seven operations included in the Territorial Specialisation and Competitiveness Project-II (PECT-II) "4locaLHealth". The aim is to consolidate the territory of l’Hospitalet as an ecosystem of research and innovation in health, based on the activation of a biomedical node focused on personalised medicine that can be a benchmark in Catalonia and Europe.
The PECTs are initiatives led by local public entities in Catalonia that articulate projects with operations and actions for the economic transformation of the territory, with a strong innovation component.
The HUB towards excellence in personalised medicine As for the Bellvitge Hospital, this is the third action to be carried out within the PECT-II framework "4locaLHealth". In recent months, the following two actions have been completed:
1. The consolidation of the CORE Molecular Analysis Laboratory (driving force behind genomic medicine at the Bellvitge Campus and a key element in the promotion of personalised medicine).
2. The creation of the Transversal Unit for the Study of the Human Microbiome (UTMAH) (which promotes the transplantation of microbiota and research for its application in different pathologies).
"We all benefit from the knowledge of all: this is the differential point of the Clinical Genetics Unit, which allows us to make the most of the resources of the system," said Dr Núria Llecha. "Thanks to the support of the hospital management and the ICS’s Southern Metropolitan Territorial Management, the new clinical laboratory equipment enables us to enhance the high complexity diagnosis while strengthening the territorial strategy with other hospitals and Primary Care".
These actions contribute to the HUB's vision of becoming a benchmark centre in adult minority diseases through Personalised Medicine and to the positioning the biomedical node of L'Hospitalet. The 5P Medicine, that is Personalised, Predictive, Preventive, Participatory and Populational, brings great value in hereditary diseases, especially in the case of minority and oncological diseases in which genetic counselling of patients and their families is essential. The creation of the new Clinical Genetics Unit of the HUB has been 50% co-financed by the European Regional Development Funds of the European Union in the framework of the ERDF Operational Programme of Catalonia 2014-2020.