CLINICAL GENETICS
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SUPERVISING COMMITTEE

Definition

GENERAL PRINCIPLES

COMPONENTS OF TRAINING

Core Training

Subspecialty/Non Core Training

Project or Case Reports

Other Specific Requirements

Research Project

Training Sites

SPECIAL SOCIETY

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.

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
  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. It is recommended that training be obtained in more than one 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
  • 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 such as cancer, ophthalmological genetics;
  • one journal club per week or (in New Zealand) 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: 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 and 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.
.

Subspecialty/Non Core Training
Trainees intending to subspecialise in areas such as cancer genetics or neurogenetics should spend at least a year training in general genetics and at least two years in the subspecialty area.

New guidelines commencing 2008
Trainees intending to subspecialise in areas such as cancer genetics, genetic metabolic medicine or neurogenetics should spend at least a year training in general genetics and at least 2 years in the subspecialty area.

Up to 6 months of advanced training may be spent in a related field, other than clinical genetics or subspeciality genetics. This could include up to 6 months of full time research or clinical training. Appropriate fields of clinical training may include, but are not restricted to, neurology, developmental paediatrics and endocrinology. Trainees wishing to do an elective period in a field other than genetics must obtain prospective approval from the SAC. Approval would not be automatic even for training in the areas listed above - the specifics of the 6 month period would be important and it is possible that some neurology rotations (for example) would not be suitable. This means that it is important to discuss plans to do an elective term with the Coordinator of Advanced Training well in advance of the proposed start date.

Completion of Developmental and Psychosocial component of paediatric training by Clinical Genetics trainees
The Developmental & Psychosocial component can also be satisfied bycompleting all the requirements of advanced training in clinical genetics under the supervision of the SAC in Clinical Genetics. Genetics trainees will continue to be required to have their mandatory training program approved prospectively and on an individual basis. Undertaking part of the training program, or a short period of training in Clinical Genetics, would not satisfy the requirement.

Clinical Cancer Genetics
Two years of prospectively approved supervised advanced training in cancer genetics will be accredited by the SAC if undertaken:
  • in a centre with access to a clinical genetics service;
  • with continuing involvement in a clinical genetics training program;
  • with joint supervision by a clinical geneticist.
A detailed curriculum for cancer genetics' training is available from the Training Section of the College office in Australia.
Subspecialty training requirements in Clinical Cancer Genetics

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This page was last edited: April 2011