Medical Genetics

The Operating Unit consists of an outpatient genetic consultation and examination service and a Medical Genetics laboratory.

Main conditions treated trattate

• Infertility
• Neoplasm
• Cardiomyopathy
• Malformative frameworks
• Delayed cognitive development
• Rare diseases

Services provided

At the Medical Genetics Clinic:

• Pre-test and post-test genetic counseling
• Pre-NIPT interviews (non-invasive prenatal testing) 
• Pre-illocentesis and pre-amniocentesis interviews 
• General outpatient clinic for specialist genetic examinations 
• Cardiogenetics Clinic 
• Joint Pediatrics and Genetics Clinic
• Intramoenia First Genetic and control visits.

The following laboratory investigations are carried out at the Cytogenetics and Molecular Genetics sections:

• Peripheral blood karyotype
• QF-PCR (rapid analysis for the main chromosomopathies)
• Search for microdeletions on the Y chromosome
• Thrombophilic panel
• Screening test for mutations in the CFTR gene (cystic fibrosis, level I)
•  CFTR (Cystic Fibrosis, Level II) Gene Sequencing
• Molecular test for alpha- and beta-globin chain mutations (thalassemias)
• X-fragile test
• SMA (Spinal Muscular Atrophy) test
• Molecular Testing for Duchenne/Becker Syndrome
• Screening test for mutations in the GJB2 and GJB6 genes (connexin 26 and 30, for congenital deafness)
• Analysis of polymorphisms of the DPYD gene (dihydropyrimidine dehydrogenase)
• HLA typing for celiac disease susceptibility
• HLA-B27
• HLA G
• Test for microsatellite instability
• Search for mutations in KRAS, NRAS, BRAF
• MLPA BRCA1 and BRCA2 genes
• Search for HFE gene mutations (C282Y, H63D, S65C)

The following tests are performed in service:

• Karyotype after removal of chorionic villus or amniocytes
• Non-invasive prenatal screening (NIPS – NIPT)
• Oncogenetics investigations ( BRCA1 and BRCA2sequencing, oncology panels)
• Further cytogenetic and molecular investigations indicated during the specialist genetic examination

Outpatient activity

By law, each genetic investigation must be preceded and followed by genetic counseling.
The clinical act of genetic counselling presents peculiarities from an ethical and formal point of view. During counselling the individual who is at risk of transmitting or developing a genetically determined condition is instructed about the characteristics of the disease, the modalities of transmission and about what can be implemented in order to reduce or avoid certain complications of the disease. During the evaluation, the family tree of the consultant is reconstructed, who is asked about the clinical status of the various family members. The documentation is viewed and, depending on the type of pathology, the patient can be visited.

A proper characteristic of genetic counseling is non-directivity. The consultant will therefore be provided with the necessary information to be able to make their own decisions based on their social or economic condition, their philosophical, religious or ethical principles.

Genetic investigations, after informed consent collection, may be performed on various tissues (e.g. blood, chorionic villus, amniocytes, fibroblast biopsy, neoplastic tissue) and may include cytogenetics tests and molecular genetics tests. The applications of genetics to personalised medicine are constantly growing, consisting of a targeted diagnostic, therapeutic and preventive approach, based on the specific characteristics of the individual.

Clinical genetics approaches can be used to explore somatic variants, in the case of oncological, or constitutional pathologies. The study on somatic samples allows to define diagnosis, prognosis and therapy in case of solid or hematological neoplasms. The study of constitutional variants can be carried out in the oncology sector, in the prediction of response to drugs or in the assessment of the risk of developing multifactorial diseases. In particular, knowing the molecular basis of the development of tumours, cardiomyopathies or neurodegenerative diseases in the individual patient can be of crucial prognostic importance, guiding the setting of therapy and follow-up. They also have family implications, which may make it possible to identify (through segregation tests) those subjects who are most at risk of developing the condition in question.

Among the main areas of application of Medical Genetics is prenatal diagnosis. We distinguish screening tests (combined and non-invasive prenatal screening tests), which will give a probabilistic result, and diagnostic tests. Diagnostic investigations, to be performed after invasive collection of chorionic villus or amniotic fluid, are indicated when there is advanced maternal age, when ultrasound abnormalities or other indications have been found. It is also possible to search for known familial mutations following invasive sampling.

Receiving this type of information can present important implications regarding decisions about ongoing pregnancy, the planning of new pregnancies and the completion of childbirth. In fact, it is possible to alert the neonatal unit of the condition of the fetus, in such a way as to organize the delivery with the presence of all those health figures who may need the intervention.

In recent years, in the case of couple infertility or polyabortivity, medically assisted procreation techniques are being used more and more frequently. These methods are preceded by the examination of the karyotype following the collection of peripheral blood from both partners. This cytogenetic investigation is aimed at ruling out the presence of abnormalities in the number of some chromosomes or structural abnormalities, which could be the cause of infertility. Further investigation may be required, including the search for mutations of the gene associated with cystic fibrosis and the search for microdeletions on the Y chromosome.