Medical Genetics Clinic

Medical Staff:

• Dr. Stefania Bigoni (Manager) - e-mail: bgs@unife.it
• Dr. Sergio Fini
• Dr. Marcella Neri
• Dr. Francesca Gualandi (Medical Genetics Unit assistant-director)
• Prof. Alessandra Ferlini  (Associate Professor, Section and the Medical Genetics Unit Director)

Administrative Staff:

• Barbara Brunetti (Nurse and administration office contact)
• Claudia Benini (Nurse)
• Alberti Sandra (Nurse)
• Barbara Negrelli  (Administration official)
• Franca Curina (Administration assistant)
• Gianna Teodori   (Administration assistant)

The Medical Genetics Service is available to individuals and/or families affected by or at risk of genetic diseases. Accurate diagnosis and genetic counselling is assured so that patients and/or their guardians can make informed and autonomous choices. Genetic counselling aims to inform patients at risk of a genetic disease and/or their relatives about the nature and consequences of such conditions, the probability of their developing or transmitting one, and the options open to them as regards treatment and prevention.

We can offer the following specific types of counselling sessions: Prenatal Genetics, Cancer Genetics, Neurogenetics, Prenatal and Postnatal Thalassaemia, Birth Defects & Developmental Disabilities

GENETIC TESTS
Genetic tests aim to diagnose genetic conditions, to assess the susceptibility of a person to such conditions, or to determine the variability between affected individuals. Genetic testing is also carried out for medical-legal purposes. Unlike other types of medical test, all members of an individual’s family (ancestors and offspring) may need to be tested. Due to the complex psychological and social impact of genetic diseases, patients and their families must be tested and given their results in a supportive environment. According to national and international guidelines, therefore, we offer dedicated counselling to all individuals undergoing prenatal or postnatal genetic testing.

Informed Consent to Genetic Testing:
Before undergoing any genetic testing, you will need to read one of the following four specific information sheets and sign the accompanying consent form. These forms have been drafted with the aid of the Legal Medicine Unit and revised and approved by the S. Anna Hospital Ethics Committee (memorandum 7/2012 of 26/07/2012).

• Prenatal cytogenetic testing consent form

• Postnatal cytogenetics testing consent form
• Prenatal molecular genetics testing consent form
• Postnatal molecular genetics testing consent form

HOW TO BOOK

For information regarding phone contacts, referrals, private samples, services we provide, how and when to book, and the documentation required, please see:

• Booking procedure for Medical Genetics Service
• Patient hotline and internal booking procedure
• Medical Genetics Service Information Sheet for referred patients
• Birth defects consultation booking form

MEDICAL REPORTS
All Medical Genetics patients will be provide with a written report at the end of counselling.