Table 1 Structure of the European Training Requirements for the Specialty of Medical Genetics.

Specialty of Medical Genetics

Aims of Medical Genetics

European Training Requirements

I. Training requirements for trainees

 1. Trainees in Medical Genetics

 2. Organisation of training

II Training requirements for trainers

 1. Process for recognition as trainer

 2. Quality management for trainers

III. Training requirements for training institutions

 1. Process for recognition as training centre

 2. Quality Management within Training Institutions

Syllabus

1. Human Genetics and Genomics

1.1. Background and general aspects

1.2. Basics of Human Genetics and Genomics

 1.2.1. Genome

 1.2.2. Genes

 1.2.3. Gene regulation and epigenetics

1.3. Cell biology

 1.3.1. Cells and organelles

 1.3.2. Cell membrane

 1.3.3. Major signalling pathways

 1.3.4. Extracellular matrix

 1.3.5. Cell cycle and cell division

 1.3.6. Mutagenesis, genome maintenance and cell death

1.4. Embryology and developmental genetics

 1.4.1. Early embryonic development

 1.4.2. Twinning

 1.4.3. Organ development

 1.4.4. Postnatal development and aging

1.5. Genomic variability and its functional consequences

 1.5.1. Genetic and genomic variability

 1.5.2. Functional variant effects

 1.5.3. From genotype to phenotype

 1.5.4. Inheritance modes

 1.5.5. Mosaicism

 1.5.6. Tumour genetics

 1.5.7. Genetics at a population level

1.6. Genetic laboratory analyses

 1.6.1. Cytogenetic analyses

 1.6.2. Molecular genetic analyses

 1.6.3. Tumour genetic analyses

 1.6.4. Bioinformatics

 1.6.5. Proteomics and biochemical genetics

 1.6.6. Experimental biology

2. Medical Genetics

2.1. General aspects

 2.1.1. Settings

 2.1.2. Clinical research in Medical Genetics

 2.1.3. Ethical, societal, cultural, and legal aspects

 2.1.4. Personalised genetic and genomic medicine

 2.1.5. Genetics on the web

2.2. Medical genetic consultations

 2.2.1. Genetic diagnosis

 2.2.2. Probability calculation and statistics

 2.2.3. Genetic counselling

2.3. Genetic testing

 2.3.1. Indications for genetic/genomic tests

 2.3.2. Postnatal genetic testing

 2.3.3. Prenatal genetic testing

 2.3.4. Genetic screening

 2.3.5. Pharmacogenetics and -genomics

2.4. Management of genetic disorders

 2.4.1. General management aspects

 2.4.2. Non-specific phenotype-targeting treatments

 2.4.3. Gene therapy

 2.4.4. Gene editing

 2.4.5. RNA targeting

2.5. General Skills

 2.5.1. Medical skills

 2.5.2. Management skills

3. Genetic Basis of Human Disorders

 3.1. Congenital morphological anomalies

 3.2. Neurodevelopmental disorders (NDD)

 3.3. Neurological disorders

 3.4. Epilepsies

 3.5. Neuromuscular disorders

 3.6. Psychiatric disorders

 3.7. Ophthalmological disorders

 3.8. Craniofacial anomalies and ear, nose, throat disorders

 3.9. Dental disorders

 3.10. Disorders of the heart

 3.11. Respiratory disorders

 3.12. Hepatological disorders

 3.13. Digestive and gastrointestinal disorders

 3.14. Renal and urinary tract disorders

 3.15. Disorders of sex development and reproduction

 3.16. Skin disorders

 3.17. Connective tissue and musculoskeletal disorders

 3.18. Skeletal disorders

 3.19. Endocrine disorders

 3.20. Metabolic/biochemical genetic disorders

 3.21. Immunodeficiency, autoinflammatory/autoimmune disorders

 3.22. Haematological and coagulation disorders

 3.23. Tumours and tumour predisposition syndromes