Clinical and molecular genetics

The Clinical and Molecular Genetics department is a reference centre in Catalonia in the diagnosis and care of patients with rare genetic diseases, and we are also responsible for significant research and teaching activity.

Our clinical genetic consultation offers comprehensive care for patients with genetic illnesses and their families, based on diagnosis, monitoring, management and genetic counselling.

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Our main objective is to create a functional unit around a single diagnostic process, covering everything from the clinical point of view to diagnostic testing, for genetic diseases, taking into account their complexity and the need for comprehensive, multidisciplinary treatment.

We have been officially classified as a member of the first Network of Clinical Expertise Units (XUEC) for the treatment of rare diseases in Catalonia, which is devoted to treating genetic cognitive/behavioural illnesses in children. Created by the Catalan Health Service (CatSalut). Thanks to this recognition, the Clinical Expertise Units (UEC) lead the way in diagnosing and caring for those affected by this type of disease in accordance with the criteria and requirements established by the rare diseases protocol in Catalonia.

How it works

Care for patients and relatives in the field of genetics includes four main activities:

• The diagnosis of genetic illnesses or disorders by integrating personal and family clinical information, a detailed physical examination and information from genetic studies.
• Communication of this information, in a way that is clear and understandable, about the disease that we have diagnosed, its consequences for the patient and their family, the risk of transmission or recurrence and the possibilities of preventing recurrence of the disease.
• The referral of patients and relatives to the various specialised professionals and support groups necessary for proper comprehensive treatment depending on each individual case.
• Coordination between the multidisciplinary group of specialists that monitor and take care of the various specific pathologies of any given patient. One such example is patients with Noonan syndrome.

More specifically, the clinical activity of the genetic consultation relating to diagnosis of genetic disorders is concentrated in a series of specific functional groups that include:

1. Dysmorphological diagnosis: clinical visits with questions about patient history and a detailed physical examination in which phenotypic features and congenital malformations presented by patients are assessed to see how they can help determine the genetic cause.
2. Genetic counselling: clinical visit and data collection in any circumstance that may involve the presentation or recurrence of a genetic disorder.
3. Foetal dysmorphology: study of foetuses with malformations diagnosed in a prenatal ultrasound during pregnancy.
4. Monographic consultations: we are constantly providing consultations for patients who have been admitted (mainly from the Maternity and Children's Hospital), in whichever hospitalisation ward they are in.
5. Activity in transversal units: in recent years, a protocol has been drawn up with other medical staff from the hospital aimed at promoting transversal units for the treatment of genetic pathologies that are especially prevalent in our patients. These areas or programmes that are transversal and include various units include the Marfan Consultation Unit; the Genetic Counselling for Hereditary Heart Disease Consultation; post legal abortion Genetic Counselling Clinic; the Child Oncogenetics Clinic; and the Non-syndromic neurosensory hearing loss clinic.
6. Multidisciplinary Consultation Groups. These groups discuss patients with different rare syndromic pathologies that are treated by different specialists.
7. Participation on various specific committees made up of our hospital specialists.
8. Interactions with patient associations. Regular meetings with various patient associations in order to optimise communication, help meet their needs, cooperate in health education and define aspects related to improving integration of patients into the processes and follow-up protocols that affect them. This includes, FEDER Catalunya, FEDER Central and the Catalan Rare Illnesses Federation (FECAMM). We also collaborate closely with patient associations from countries such as Italy, France, Chile and Argentina.

Research

We pursue several lines of research that are part of Vall d'Hebron Research Institute (VHIR) research groups. This includes the Genetic Medicine Research Group and our collaboration with other groups from Oncogenetics, Mitochondrial Diseases, Endocrinology and Paediatric Pneumology.  

Teaching

Our teaching activity covers undergraduates, postgraduates and continuing education of professionals interested in the field, including theoretical classes, academic placements on the unit, and supervision of final year and master's degree projects. Medical staff from our department participate actively in the following master's programmes:

• Master’s in Biochemistry, Molecular Biology and Biomedicine (Autonomous University of Barcelona)
• Master's in Developmental Biology and Human Genetics (University of Barcelona)
• Master’s in Genetic Counselling (Pompeu Fabra University)
• Master's in the Foetal Medicine Unit by the Obstetrics Department
• Master's in Medical Genetics (University of Valencia)
• Master’s in Biomedical Research (Vall d'Hebron Research Institute)

We also organise seminars and courses for different groups, such as nursing professionals, consultants, residents and educators.

In collaboration with the FEDER (the Spanish Rare Diseases Federation), we have set up ourWorkshops for Patients with Rare Diseases: looking beyond the disease.