GENETIC METABOLIC MEDICINE
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SUPERVISING COMMITTEE

DEFINITION

GENERAL PRINCIPLES

COMPONENTS OF TRAINING

Core Training

Non Core Metabolic Training

Specific Training: Metabolic

Project or Case Report

Other Specific Requirements

Research Project

TRAINING SITES

SPECIAL SOCIETY

 Vocational Training
 Metabolic Medicine
Supervising Committee
The Specialist Advisory Committee (SAC) in Clinical Genetics will supervise metabolic trainees in both Australia and New Zealand.  Thus there will be two training streams supervised by the SAC in Clinical Genetics:
Clinical Genetics (including cancer genetics)
and Metabolic Medicine.

Definition of Subspecialty
A metabolic physician is a medical practitioner trained in the application of the principles of metabolic medicine.  This includes the interpretation of specialist metabolic laboratory investigations including newborn screening and the diagnosis and management of metabolic disorders.

General Principles
  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 in Clinical Genetics of the RACP.
  3. Unless there are exceptional circumstances it is expected that training be obtained in more than one metabolic genetics centre.
  4. All subspecialty paediatric trainees must complete the community and child health requirements for paediatric training.
    Note that the guidelines differ between Australia and New Zealand.

Components of Training
Core Training
At least six months of full time equivalent training is to be exclusively in general clinical genetics, including:
  • 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 CYRILLIC and LINKAGE, computer databases including OMIM, Medline, POSSUM, London Dysmorphology and Neurology Databases;
  • attendance at cytogenetics, molecular genetics in order to acquire basic 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;
  • An introduction to the management of a genetic service program; including budget preparation, management of outreach program, liaison with human resources department and medical record keeping.
  • 3 clinics per week, which could include:
    • general clinical genetics
    • prenatal diagnosis clinic
    • other clinics, e.g. following up old patients or specialty clinics such as cancer, neurogenetics, ophthalmological genetics;
  • one journal club per week or when available;
  • one review session per week, e.g. review of clinical cases seen, discussion of dysmorphology slides, counselling issues;
  • one liaison laboratory meeting per week, for equivalent of 3 months in the following fields:
    • laboratory: cytogenetics, molecular (required)

Non Core Metabolic Training
Trainees intending to specialise in metabolic medicine should spend at least six months training in general genetics and at least two years full time equivalent in metabolic medicine.  The additional six months of training (to make a total of three years) is the elective period.  This could be spent in clinical genetics (thus allowing the trainee to fulfil service requirements of many of the one year clinical genetics registrar positions available in Australasia), research or in an area of training of the trainees choice. This will be in an area applicable to metabolic medicine (for instance biochemical laboratory, newborn screening laboratory, neurology, endocrine, intensive care). Prospective approval for the six months elective period must be obtained from the SAC in Clinical Genetics.

The two years of metabolic training must be in Australasian centres accredited as training sites in metabolic medicine (currently Melbourne, Sydney-Children’s Hospital at Westmead, Brisbane, Adelaide, Auckland) or at an international site approved by the SAC in Clinical Genetics.  An appropriate supervisor must be identified at each site.

Specific Training: Metabolic

Knowledge
IThe trainee should acquire a sound understanding of the following:
  • Normal physiology and biochemistry.
  • Nutrition
  • Disorders of intermediary metabolism: Amino acidopathies, organic acidopathies, fatty acid oxidation disorders
  • Disorders of oxidative phosphorylation and the mitochondrial respiratory chain;
  • Disorders of lipids, lipoproteins, cholesterol and other sterols;
  • Lysosomal and peroxisomal disorders;
  • Purines and pyrimidines;
  • Disorders of porphyrins, neurotransmitters, trace elements, creatine, bile acids, glycosylation
 
Clinical experience
As a minimum outpatient experience trainees should regularly attend a weekly metabolic clinic that includes a substantial proportion of non-PKU patients. Trainees are encouraged to attend other clinics providing specialised services for specific inborn errors of metabolism eg lysosomal storage disorders. 

Trainee should have access to an acute metabolic ward, intensive care facilities and be exposed to a large number of in-patient ward consultations.

Trainees should spend at least 12 months in a metabolic unit with close affiliation with a newborn screening service. 

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This page was last edited: February 2007