Clinical Genetics

Components of Training

Core Training

• Psychosocial aspects of counselling, including supervision by an accredited counsellor, with particular emphasis on coping skills and defence mechanisms, risk communication, bereavement counselling and the giving of distressing news.
• Genetic diagnosis including dysmorphology, interpretation of laboratory studies, use of computer programs such as CYRRILLIC and LINKAGE, computer databases including OMIM, Medline, POSSUM, London Dysmorphology and Neurology Databases.
• Attendance at cytogenetics, molecular genetics, biochemical genetics, newborn and prenatal screening laboratory results meetings in order to acquire competence in the interpretation of results of laboratory testing.
• Awareness of ethical and legal issues arising from clinical genetic practice including informed consent, confidentiality, prenatal and pre-implantation testing, termination of pregnancy and presymptomatic testing.
• Management of genetic service programs including budget preparation, management of outreach program liaison with human resources department, medical record keeping.
• For the majority of the training period you should be working in the field of medical genetics, and supervised by specialists in this field.

At least one year of training is to be full-time in general clinical genetics, including:

• three clinics per week, which could include:
  
  • general clinical genetics
  • prenatal diagnosis clinic
  • other clinics eg following up previous patients or specialty clinics, eg cancer, biochemical genetics, opthalmological genetics
• one journal club per week
• one review session per week, review of clinical cases of eg discussion of dysmorphology slides, counselling issues
• one liaison laboratory meeting per week, for the equivalent of three months in the following fields:
  
  • laboratory: cytogenetic, molecular (required), serum/prenatal screening (elective)
  • inborn errors of metabolism/biochemical genetics (required), neonatal screening (elective).

During the three years of training, core experience should include:

• cancer genetics: hereditary breast, bowel cancer
• neurogenetics/presymptomatic diagnosis: Huntington disease and other adult-onset conditions
• clinical cytogenetic problems including at least trisomy, reciprocal and Robertsonian translocation, inversion, sex chromosome variations, mosaicism
• prenatal diagnosis including advanced maternal age, cystic fibrosis, Duchenne muscular dystrophy, congenital adrenal hyperplasia, fetal problems detected on routine ultrasound, unexpected chromosome variations detected in fetus eg. less frequent trisomies, confined placental mosaicism, trisomy rescue
• diagnosis and management of inborn errors of metabolism
• examination of stillborn/miscarried fetuses, follow-up of couples who terminate pregnancy
• at least a week's experience in a cytogenetics diagnostic laboratory, and a week in a molecular DNA laboratory
• diagnosis of syndromes including multiple congenital anomaly syndromes and skeletal dysplasias: morphological assessment and diagnostic investigations.

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