• To ensure that the paediatric geneticist
  • Develops clinical skills in diagnosis and management of congenital malformations and genetic diseases.
  • Has a basic knowledge of cytogenetics, molecular and biochemical genetics and the use and interpretation of the various laboratory tests for diagnosis and management of genetic diseases.
  • Acquires skills in genetic counselling.
• To attain a foundation in planning and maintaining a strong research base in current concepts in clinical and laboratory genetics.

• Approach to diagnosis of inborn errors of metabolism.
• Knowledge of the various diagnostic tests and accurate interpretation of
  results.
• Genetic counselling of families.
• Research in current therapy and diagnostic methods eg tandem mass
  spectrometry.

Clinical Genetics

• Diagnosis and management of common genetic disorders (e.g. chromosomal disorders); inherited blood diseases (e.g. thalassaemia, haemophilia); inherited musculoskeletal disorders; multi-factorial diseases and inherited inborn errors of metabolism.
• Approach to the diagnosis of a dysmorphic child. Use of computerised databases e.g. POSSUM and specialised laboratory tests to assist in definitive diagnosis.
• Carrier detection methods available in genetic diseases e.g. thalassaemia.
• Prenatal diagnosis and counselling in at-risk families e.g. chromosomal abnormalities and thalassaemia.
• Genetic registers - the initiation and maintenance of registers of genetic diseases. These are invaluable in preventive genetic programmes.

• Knowledge of the various methods used in karyotyping and interpretation of karyotypes.
• Genetic counselling of couples with abnormal prenatal cytogenetic findings.
• Research in recent advances in cytogenetics e.g. fluorescent in-situ hybridisation, computerised karyotyping.

• A strong foundation in the concepts and principles of DNA technology.
• Application of DNA diagnostic techniques to clinical practice e.g. carrier detection, prenatal diagnosis.
• Research in the molecular basis of genetic diseases in the local population.

• Emphasis is on clinical training in genetic diseases at inpatient and outpatient level.
• Familiarity with cytogenetics laboratory and prenatal diagnostic tests.
• Involvement in genetic counselling.
• Active participation with the Birth Defects Group comprising maternal-fetal obstetricians, neonatologists, perinatal pathologists, paediatric surgeons and geneticists.
  

• Attachment to cytogenetics laboratory to learn the various methods of karyotyping and interpretation of karyotypes.
• Active involvement in genetic counselling.
• Involvement in diagnosis and management of genetic diseases and the use of a computerised programme in diagnosis of the dysmorphic child.
• Attachment in Molecular Genetics Laboratory and involvement in DNA diagnostics and research.
• Active involvement in biochemical genetics programme in elucidation of the incidence of inborn errors of metabolism in the local population. Participation in the Metabolic Clinic and laboratory.

• Clinical experience through joint management of patients in the setting of a genetics service e.g. Metabolic Clinic, Genetic Counselling Clinic, weekly Birth Defects meeting, monthly Cytogenetics and Molecular Genetics meetings and administration of genetic registers.
• Systematic lectures, tutorials and ward rounds.
• Seminars, journal reading and research projects.
• Laboratory experience through participation in the Cytogenetics, Molecular and Biochemical Genetics laboratories.
  

• Paediatric inpatients with genetic diseases, chromosomal abnormalities and dysmorphology syndromes.
• Genetic Counselling Clinics for paediatric and adult patients with genetic diseases.
• Birth Defects meeting - a multi-disciplinary meeting to manage the family with a fetus with birth defects.
• Genetic registers e.g. National Thalassaemia Registry in preventive genetic programmes.
• Genetic laboratories - these include the Cytogenetics, Molecular and Biochemical Genetics laboratories. Attachments in these laboratories will provide the trainee with a strong foundation in the uses and interpretation of genetic tests.