MEDICAL GENETICS SERVICE FOR CHILDREN AND ADULTS
Genetic counselling is for people with a suspected pathology of genetic origin, a familiarity with it or a risk of developing a disease such as: heart disease (long QT syndromes, hypertrophic heart disease, valvulopathies), nephropathies (polycystic kidney, Alport syndromes), neuropathologies (ataxia, frontotemporal dementia, syndromic mental retardation, epilepsy), muscular diseases), endocrinological diseases (pathological obesity, MODY diabetes), skeletal diseases (hypostaturality, skeletal dysplasia), congenital deafness, malformative child and adult syndromes and fetopathology.
Many consultations take place in synergy with other EOC services and specialists.
How it takes place
In the context of the genetic counselling of a child or adult, the family tree is reconstructed from the proband (the person who is being investigated) and goes back three generations (grandparents). All information relating to the diagnostic question is collected. In some cases the patient is examined for signs compatible with the diagnostic suspicion (e.g. skin spots, hypermobility of the joints, etc.). The following is an explanation of the type of genetic test proposed and the informed consent in line with the Swiss Society of Medical Genetics. Sometimes the blood sample for genetic testing (without fasting) is taken at the time of the consultation, sometimes it is planned for the future, (e.g. pending a response from the health insurance company to the costs of the tests). The result obtained, the implications for the patient and his or her family and the proposal to take charge later are discussed as part of a subsequent consultation called a return result.
What is it for?
Its purpose is to place or confirm a suspicion of a genetic disease, to help prevent complications, to direct the patient towards the correct specialist for taking charge and to help family planning.
- Dr. Alessandra Ferrarini, geneticist and paediatrician, member FMH Head of the Medical Genetics Service and the Child and Adult Genetics Outpatient Clinic
- Dr. Biol. Monica Taborelli Genetic consultant
- Dr. Cristina Mangas, Dermatologist Consultant
GENETIC COUNSELLING IN ONCOLOGY
Genetic counselling in oncology is aimed at people whose personal or family history indicates an increased risk of developing cancer, compared to the general population. The Genetic Oncology Genetics Outpatient Clinic provides comprehensive and expert assistance to those who have had cancer, their families, and individuals hoping to prevent the onset of cancer.
Considering the field of genetics is in continuous and rapid scientific and technological development, the service offers the genetic test to reach the diagnosis of a hereditary syndrome such as:
- Hereditary mammary and ovarian cancer syndrome
- Lynch syndrome
- Li Fraumeni syndrome
- Family pancreatic cancer syndrome
- Hereditary paraganglioma and pheochromocytoma syndrome
The clinic aims to identify individuals at increased risk of developing cancer in order to prevent the onset of cancer. This is done through personalised screening programmes and/or assessment for prophylactic surgery. We work with a multidisciplinary team of oncologists, dermatologists, gynaecologists, geneticists, psychologists, gastroenterologists, surgeons and nurses, to assess and manage risk. Knowing if you are a carrier of hereditary cancer syndromes also means the possibility of access to targeted treatments and clinical trials.
It is also important to identify your relatives also at risk of carrying a genetic mutation, in order to test them and reduce their risk.
The clinic also conducts research projects. The Oncology Genetics Outpatient Clinic is part of an accredited national network coordinated by the Swiss Cancer Clinical Research Group (SAKK): this guarantees the quality of the service and reimbursement by health insurance companies.
- Dr. Rossella Graffeo, Responsible
- Dr. Biol. Monica Taborelli, Genetic consultant
- Dr. Cristina Mangas, Dermatologist consultant