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Princess Margaret Hospital

WA Newborn Screening Program

Local Governance

National Governance

Newborn screening policy in Australia is developed by a Joint Subcommittee of the Human Genetics Society of Australasia and the Division of Paediatrics of the Royal Australasian College of Physicians (HGSA Policies/Newborn Screening).

Newborn screening is recommended provided that:

  • There is benefit for the baby from early diagnosis (benefit to the family may also benefit the baby).
  • The benefit is reasonably balanced against financial and other costs.
  • There is a reliable test suitable for newborn screening.
  • There is a satisfactory system in operation to deal with diagnostic testing, counselling, treatment and follow-up of patients identified by the test.

A newborn screening program comprises the sum of the operations necessary to ensure that all babies are tested, all necessary follow-up is done, and all cases found are adequately treated. A newborn screening program therefore requires a satisfactory system to deal with diagnostic testing, counselling, treatment and follow-up of patients identified by the screening test.

The Newborn Screening Task Force Report from the American Academy of Pediatrics (Newborn screening: a blueprint for the future Pediatrics 2000;106:386–388) states that effective newborn screening systems require a public health infrastructure that is adequately integrated with the health care delivery system. All involved in the screening process therefore have a duty to assist the family in understanding the diagnosis, symptoms and potential implications of a diagnosed genetic/metabolic condition, as well as the availability of genetic counselling, family testing, and other family support services.

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Local Governance

The WA Newborn Screening Program operates from the Department of Clinical Biochemistry at the Princess Margaret Hospital for Children in Perth and screens all babies born in WA. The Program collaborates with relevant subspecialty clinicians in the Metabolic Clinic (PKU, galactosaemia, amino acid, organic acid, and fatty acid oxidation disorders), Department of Endocrinology (congenital hypothyroidism), and Department of Respiratory Medicine and Genetic Services of WA (cystic fibrosis) at Princess Margaret Hospital to initiate the recall, diagnosis and treatment of infants identified with positive screening results. A positive screening result is one that warrants recalling the infant for further testing and clinical assessment.

WA Newborn Screening Program activities are overseen by the WA Newborn Screening Committee, which is a subcommittee of the WA Genetics Council. For more information contact:
Genomics Directorate, Department of Health, Western Australia,
PO Box 8172, Stirling Street, Perth WA 6849.
Telephone : 08 9222 6888
E-mail : genomics@health.wa.gov.au

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