Genetics services in NSW are coordinated by the NSW Genetics
Service Advisory Committee, which is supported by the Statewide
Services Development Branch of the Strategic Development Division,
NSW Department of Health.
The services comprise a network of agencies—laboratory,
clinical, educational and administrative—and professional
disciplines that provide genetics services for the people
of NSW in a coordinated and integrated way.
The
Centre for Genetics Education is also part
of NSW Genetics Services, and is located at Royal North Shore
Hospital. See their website
for useful information on resources, support, and finding
genetics services.
The following are links to relevant publications and websites.
We've divided them into General and For
health professionals
General
- The
NSW Newborn Screening Programme
The purpose of newborn screening is to test all newborns for
early signs of a number of treatable congenital metabolic
disorders. This website describes these disorders and the
operation of the NSW Newborn Screening Programme.
- Genetics
Services and Counselling [ PDF 294Kb ]
A team of specialist health care workers at Genetics Services
provide up-to-date information, support and counselling
so that you can make informed decisions concerning genetic
health issues.
For health professionals
- Newborn Bloodspot Screening Policy [ PDF]
Hospitals with maternity units are to offer newborn bloodspot screening tests to all newborn babies, provide a copy of the pamphlet 'Tests to protect your baby' to parents and make sure they understand the contents and that they agree to the test. Newborn bloodspot screening detects serious disorders such as phenylketonuria, primary congenital hypothyroidism, cystic fibrosis and galactosaemia.
- Charging
Policy for Clinically Required Specialised Genetics Tests
which are non Medicare Benefits Schedule Items [ PDF
262Kb ]
Charging may be introduced for all specialised genetics
tests which are non-Medicare Benefits Schedule items, with
the exception of newborn screening and some biochemical
genetic tests which are funded separately.
- Guidelines
for predictive and diagnostic DNA testing for serious adult
onset neurogenetic disorders with predictive implications
for other family members and which are likely to reduce
normal life expectancy [ PDF 441Kb ]
Predictive and diagnostic testing using DNA (or sometimes
other analytes) is available for a number of adult onset
genetic diseases, many of which result in presently incurable
illness, dementia and premature death.
- Folic
Acid and Neural Tube Defects [ PDF 13Kb ]
About 400 children born each year in Australia are affected
by neural tube defects. Infants are either stillborn or die
early in life or have lifelong physical and often intellectual
disability. Recent evidence has confirmed that the majority
of neural tube defects may be prevented by appropriate intake
of folic acid, a water soluble vitamin, found in many fruits
(particularly oranges, berries and bananas), leafy green vegetables,
cereals and legumes.
- Genetics Services in NSW 2001-2004 [ PDF 358Kb ]
A review of genetics services highlights, achievements and
services.
- Ethical
Code Governing the Provision of Genetics Services [
PDF 96Kb ]
A guide to ethical principles, practices and responsibilities
of health professionals to patients concerning the use,
benefits and limitations of genetic tests and technologies.
- Haemochromatosis
- Information for health care providers on diagnosis and
management [ PDF 38Kb ]
Hereditary haemochromatosis affects one in every 200 to
300 people. Early diagnosis and treatment is important to
prevent organ damage and allow normal life expectancy.
- Guidelines
for Diagnosis and Management of Haemoglobinopathies: Genetic
disorders of globin including: a and b thalassaemias and
variants such as HbS and HbE [ PDF 48Kb ]
Haemoglobinopathies are recessively inherited blood disorders
for which there is no cure. It is important to consider
that an individual could be a genetic carrier for haemoglobinopathies
such as thalassaemia or HbE whenever a blood count shows
a low MCV or MCH.
- Memorandum
of Understanding between NSW Health and the NSW Police Service
establishing a protocol for access by the NSW Police Service
to Newborn Screening Blood Samples (Guthrie blood spots)
held by NSW Health [ PDF 135Kb ]
Memorandum of Understanding between the NSW Commissioner
of Police and NSW Health relating to the safe keeping of
newborn blood samples.
- Genetic Testing
This policy sets out NSW Department of Health requirements for testing for genetic disorders and particularly addresses counselling issues and laboratory requirements associated with genetic testing.
- Prenatal Testing/Screening for Down Syndrome and Other Chromosomal Abnormalities
The policy is directed to clinical and care providers involved in prenatal care. It provides direction on access to and provision of prenatal testing including prenatal screening, so women are informed about screening options and are appropriately directed to services. In recent years an increasing number of non-invasive biochemical screening tests and ultrasound techniques have been developed which can significantly increase the identification of pregnancies at risk for Down syndrome and other chromosomal abnormalities in women of all ages. Each test has advantages, disadvantages and limitations. Offers of screening need to be accompanied by sufficient information and support.
- Genetic Testing - Guidelines for prioritising Genetic Tests
Many genetic tests provided by NSW public hospital laboratories are non-Medical Benefits Schedule items funded through NSW Health. The attached guidelines have been developed to assist clinicians and health services to prioritise genetic test requests based on clinical need, equity of access and within available funding levels.
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