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
- Advanced training
should be for the equivalent of 3 years full time.
- The proposed training
program for each year of training must be submitted in advance and be approved
by the SAC.
- It is recommended that training be obtained in more than
one genetics centre.
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.
At least one year 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 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.
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
- Management of genetic service programs including budget preparation;
management of outreach program; liaison with human resources department; medical
- 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.
During the 3 years of training, core experience
- 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;
journal club and in New Zealand one journal club monthly or more frequently if
- one review session per week, e.g. review of clinical cases
seen; discussion of dysmorphology slides; counselling issues;
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:
cytogenetic, molecular (required); serum/prenatal screening (elective)
inborn errors of metabolism/biochemical genetics (required); neonatal screening
- cancer genetics: hereditary breast, bowel cancer;
diagnosis: Huntington disease and other adult-onset conditions;
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;
- diagnosis and management of inborn errors of metabolism;
of stillborn/miscarried fetuses; follow-up of couples who terminate pregnancy;
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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