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.
Centre for Genetics Education
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
Newborn Bloodspot Screening: Tests to Protect your Baby Pamphlet for all new parents outlining the reasons for newborn bloodspot screening, conditions tested for, storage and retention of samples and contact details for further information.
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 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 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.
Folic Acid and Neural Tube Defects 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.
Ethical Code Governing the Provision of Genetics Services A guide to ethical principles, practices and responsibilities of health professionals to patients concerning the use, benefits and limitations of genetic tests and technologies.
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
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.
