CLINICAL GENETICS (AUSTRALIA)
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SUPERVISING COMMITTEE

DEFINITION OF SPECIALTY

GENERAL PRINCIPLES

COMPONENTS OF TRAINING

Core Training

Subspecialty/Non Core Training

Clinical Cancer Genetics

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Vocational Training
Clinical Genetics (Australia)
Supervising Committee
Specialist Advisory Committee (SAC) in Clinical Genetics. The SAC in Australia will supervise trainees in both Australia and New Zealand.

The SAC in Clinical Genetics is an Australian committee with two New Zealand representatives, appointed as necessary, for the supervision of New Zealand advanced trainees. In such a situation the SAC will report to the New Zealand CPT.

If trainees are interested in pursuing this option, they should contact the New Zealand College office. If New Zealand trainees are employed in New Zealand, they will need to complete alternative forms for prospective approval that will be forwarded to the College office in Australia.

Definition of Specialty
A clinical geneticist is a medical practitioner trained in the application of the principles of human genetics, including laboratory findings, to the diagnosis and management of genetic disorders and supervision of the counselling of patients and their families.

General Principles of Training
  1. Advanced training should be for the equivalent of 3 years full time.
  2. The proposed training program for each year of training must be submitted in advance and be approved by the SAC.
  3. It is recommended that training be obtained in more than one genetics centre.

Components of Training

The minimum 3 years of accredited training will include a 2 year period of core training and a further year of non core training devoted to gaining proficiency and further experience in clinically related fields or in a research program.

Core Training
  • Psychosocial aspects of counselling, including supervision by an accredited counsellor, with particular emphasis on coping skills and defense 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 CYRILLIC and LINKAGE; computer databases including OMIM, Medline, POSSUM, London Dysmorphology and Neurology Databases.
  • Attendance at cytogenetics, molecular 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 preimplantation 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 the trainee should be working in the field of medical genetics, and supervised by specialists in this field.
At least one year of full time equivalent training is to be exclusively in general clinical genetics, including:
  • 3 clinics per week, which could include:
    • general clinical genetics
    • prenatal diagnosis clinic
    • other clinics, e.g. following up old patients or specialty clinics; e.g. cancer, ophthalmological genetics;
  • one journal club and in New Zealand one journal club monthly or more frequently if possible ;
  • one review session per week, e.g. review of clinical cases seen; discussion of dysmorphology slides; counselling issues;
  • one liaison laboratory meeting per week, in New Zealand they try to achieve a month in each, for equivalent of 3 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 3 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; fetal problem detected on routine ultrasound; unexpected chromosome variation detected in fetus, e.g. 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 experience in a cytogenetics diagnostic laboratory, a week in a diagnostic molecular laboratory and a week in a biochemical genetics laboratory;
  • diagnosis of syndromes including multiple congenital anomaly syndromes and skeletal dysplasias: morphological assessment and diagnostic investigations.

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This page was last edited: June 2011