The Advice and Clinical Genetics Program is a transversal program that was created with the aim of implementing the provision of genetics and genetic counseling services at the Can Ruti campus and the northern metropolitan area, thus guaranteeing care continuity among the different levels of patient care.

The Advice and Clinical Genetics office is located in the Germans Trias Hospital consultations area. It assists patients and families with a suspected disease of genetic basis and provides adequate diagnostic orientation through all stages of life (prenatal, pediatric, adult). It offers genetic counseling as well, and, if advisable, the appropriate genetic study.

The team at the Advice and Clinical Genetics Program also provides support to the specialized genetics units at Germans Trias Hospital: Neurogenetics Unit (Department of Neurosciencies), Pediatric Genetics and Metabolism Disorders Unit (Department of Pediatrics), Prenatal Diagnosis Unit (Department of Gynecology and Obstetrics), Cardiogenetics Unit (Department of Cardiology), Hereditary Disorders of Lipid Metabolism Unit (Department of Endocrinology and Nutrition), Phakomatosis Unit (multidisciplinary), Rare Diseases Unit (multidisciplinary) and Oncogenetics Unit, which is the responsibility of the Catalan Institute of Oncology.

How can I have access to a consultation at Advice and Clinical Genetics?

If you suffer or are at risk of suffering a genetic or hereditary disease, you should request from your family doctor or specialist a referral to this program.

Genetic advice or counseling is the process whose objective is to help understand and adapt to the medical, psychological and familial consequences of a certain genetic condition. During the process of communication, the needs and concerns, both individual and of the family, related to the development or transmission of a genetic disease are addressed.

• One or more professionals with specific training intervene to help an individual or a family to:
•  nterpret the family and medical background to evaluate the risk of ocurrence or recurrence of a certain type of cancer associated with a syndrom
• Educate about heredity, genetic testing, prevention, resources and research
• Offer counseling to promote informed decisions
• Offer the necessary support for an individual and family to deal with the disease

The genetic counsel process includes the following basic elements: the gathering of personal and family medical history, evaluation and counseling about the risk of developing the disease, communication of information, and offering continuous support. It may or may not include the actual genetic testing. In case of offering a genetic study, in order to guarantee that the patient is making a decision autonomously with regard to whether she/he wants to submit herself/himself to the genetic study, it is important to discuss the benefits, risks and limitations of these studies.

Interesting links

Carrier testing

Chromosome anomalies

Autosomal dominant inheritance

X-linked inheritance

Autosomal recessive inheritance

Amniocentesis

Biopsy of chorionic villi

Frequent questions regarding genetic testing

What is a genetic analysis?

Predictive analysis in hereditary cancer

What takes place in a genetics lab?

Chromosomal translocations

Advances in genetics, genomics and proteomics allow us to improve the diagnosis and our knowledge of diseases, to develop new treatments and, in general, to improve people's health.

The use of genetic tests and molecular diagnosis is rapidly expanding in clinical practice with the creation of a new approach in medicine: personalized medicine, a form of medicine that uses information about a person's genes, his/her proteins and environment to prevent, diagnose and treat a disease.

The rapid progress in the knowledge of the genetic basis of diseases, as well as the development of genetic tests that make possible identifying alterations in genes that suppose a higher risk of becoming sick, has made it possible to identify individuals and families at risk and to offer them appropriate advice and genetic counselling. The identification of these individuals and families allows us, besides an individualized assessment of the risk of becoming sick, to recommend prevention and screening strategies that are adequate with respect to the estimated risk and that have demonstrated their effectiveness in the decrease of the incidence and mortality of a certain disease.

Clinical and basic research are esential elements in the Advice and Clinical Genetics Program.

The main lines of research of this Program are:

• Ethical, social and emotional aspects of genetics and genomics
• Development of tools to assess the emotional impact of the genetic counseling
• Quality of life for patients with hereditary diseases
• Molecular basis of neurofibromatosis
• Establishment of cellular and animal models of diseases of hereditary basis

One of the strategic objectives of the Advice and Clinical Genetics Program is to increase the occasions for training of health care professionals in the area of genetics.

In order to achieve this objective, the members of the Advice and Clinical Genetics Program participate in different training and teaching tasks:

Undergraduate teaching

Teaching classes at the Autonomous University of Barcelona (UAB) School of Medicine, Can Ruti campus.

Postgraduate teaching

Participating:

• in the Nursing Degree and the Masters in Chronicity at the Health Sciences Faculty, Mataro Tecnocampus (Pompeu Fabra University)
• in the Masters in Genetic Counseling IDEC-Pompeu Fabra University

Continuous training

In addition, there is one internal training project and another for the different departments in the hospital.

Activities with citizens

The Program also has information sessions for patient associations.