Residency in Medical Genetics

NAME: MEDICAL GENETICS

COORDINATOR: PROF. PAOLA MANDICH

LOCATION: IRCCS San Martino University Hospital of Genoa, DIMI, UOC Medical Genetics

DURATION: 4 YEARS

ADMISSION:

Medical Track: Admission to the Specialization School in Medical Genetics is governed by current legislation, as outlined in the annual call for applications to medical specialization schools.

Admission of selected candidates follows the ranking order and prioritizes the following categories:

  • Ordinary positions funded by the Ministry
  • Additional positions funded by the Region
  • Additional positions funded by public institutions or entities

Admission is subject to successful completion of the entrance exam and ministerial authorization.

Technical Track: Admission of biology graduates is governed by the annual call for applications for Specialization Schools in the Healthcare Area for non-medical graduates.

Admission of selected candidates follows this order:

  • Ordinary positions funded by the Ministry
  • Reserved positions for employees working in institutions within the training network of the Medical Genetics School, holding relevant degrees and professional licenses, admitted in excess as per Article 2 of D.P.R. No. 162/1982.

Admission is subject to successful completion of the entrance exam and ministerial authorization.

TRAINING PROGRAMME: The programme includes lectures and professional training activities. Each year comprises 60 CFU, totalling 240 CFU.

The training plan is detailed in the School's Operating Plan, approved by the School Council in accordance with Ministerial Decree 1.8.2005. It defines the structure of training activities required for achieving the specialization. Trainees must attend lectures, seminars, and other educational activities necessary for well-rounded training.

Specialization contract holders are considered university students. The academic year starts with the ministerial decree establishing teaching activities. Attendance is mandatory. The School Council determines the structure of annual theoretical and practical activities, including rotation within the training network.

Training within the network: Trainees complete training as per School Council criteria. Rotations through various facilities are required for comprehensive professional training. The duration of time in affiliated units cannot exceed half the programme's duration.

Training outside the network: Trainees may undertake training abroad, subject to School Council approval and formal acceptance by the host institution, for up to 18 months.

Internships are considered part of the educational experience and do not replace permanent hospital/university staff duties. Progressive responsibility is assigned as training advances.

All training and clinical activities are carried out under the supervision of Tutors appointed annually by the School Council, based on scientific qualifications, professional CVs, and teaching ability.

Medical trainees record activities in a digital logbook (Nomos), including didactic schedules, topics, methods, instructors, clinical organisation, rotation planning, and increasing autonomy. Non-medical trainees keep a paper logbook provided by the School.

The School Director annually verifies logbooks against each trainee's individual training plan.

TRAINING OBJECTIVES: The Specialization School in Medical Genetics belongs to the Laboratory area and spans four years.

Core Knowledge:

  • Cellular and molecular mechanisms of human heredity
  • Embryology and developmental genetics
  • Pharmacogenetics and pharmacogenomics
  • Genetic epidemiology and biostatistics
  • Population genetics, risk calculation, bioinformatics
  • Epigenetics, gene-environment interaction
  • History of genetics

Core Competencies:

  • Diagnosis and management of patients with rare and common diseases and their families
  • Prescription of enzyme replacement or repurposed therapies in a multidisciplinary team
  • Risk assessment using software tools
  • Paediatric genetics including dysmorphology
  • Adult-onset diseases and presymptomatic testing
  • Prenatal genetics and teratogen effects
  • Genetic screening programmes
  • Gene therapy and future applications
  • Common diseases with genetic components
  • Metabolic disorders, neurogenetics, neuromuscular genetics
  • Cancer genetics, connective tissue disorders, hearing loss genetics
  • Reproductive and prenatal genetics
  • Immunogenetics, cardiovascular, endocrine, dermatological, gastrointestinal, haematological, nephrological, ophthalmological, psychiatric, pulmonary, and skeletal genetics
  • Ethical and legal issues, informed consent, confidentiality
  • Laboratory techniques in genetic diagnosis: SNP and CGH-array, whole-exome/genome sequencing

Key Skills:

  • Gather clinical and family history and construct/present pedigrees
  • Perform physical exams and prescribe/interpreting diagnostic tests
  • Use genetic databases and disease registries
  • Time management and clinical decision-making
  • Blood sampling and hair bulb extraction
  • Clinical photography, dysmorphology databases use
  • Recognise dysmorphic and neurological signs across systems
  • Conduct genetic counselling and manage emotional/family reactions
  • Develop strong communication with families and colleagues
  • Interpret cytogenetic, molecular, genomic results: SNP/CGH-array, exome/genome sequencing

Certification of specific care standards by the facility director is mandatory for diploma eligibility. Standard requirements vary in number (not by type) between medical and biology trainees.

Rotations across different UOCs in the Training Network ensure all trainees fulfil these standard activities.

AFFILIATED TRAINING NETWORK STRUCTURES:

  • IRCCS San Martino University Hospital – Hereditary Tumour Centre
  • IRCCS San Martino University Hospital – Rare Tumour Genetics
  • IRCCS G. Gaslini Institute – Medical Genetics
  • E.O. Ospedali Galliera – Histocompatibility Lab and IBMDR
  • Evangelical International Hospital – Reproductive Medicine Centre
  • “SMM” Hospital Complex (Udine) – Regional Coordination Centre for Rare Diseases
  • Mangiagalli Clinic, IRCCS Cà Granda Hospital, Milan – Assisted Reproduction Unit
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