Assessment of rare genetic disorder for inclusion in WA Newborn Bloodspot Screening Program

  • Spinal muscular atrophy to be investigated as a potential addition to NBS Program
  • Congenital adrenal hyperplasia to be added to the NBS Program
  • The Department of Health will assess a rare genetic disorder – spinal muscular atrophy (SMA) – for inclusion on the WA Newborn Bloodspot Screening Program to help identify newborns with the condition who may be eligible for lifesaving interventions.

    SMA is a devastating genetic condition that affects the nerves controlling skeletal muscle movement, leading to progressive muscle weakness, life-long functional impairment and paralysis. SMA is the leading cause of death in infants with an incidence of approximately one in 10,000 births.

    However, new therapies for SMA have shown significantly improved outcomes for those living with SMA, and early detection can help to administer these therapies to reduce morbidity, mortality and improve quality of life. 

    Following preparation of the required equipment, training of staff, development of testing protocols and clinical and care pathways, the WA Department of Health will conduct an implementation pilot program to include SMA in the WA NBS Program. Similar pilot programs in New South Wales and the Australian Capital Territory have already allowed the WA Department of Health to review their data.

    The Newborn Bloodspot Screening Program has existed for more than 50 years in Australia to screen all babies through a heel prick procedure for serious genetic conditions. It is important for parents to know that this is a screening program, not a diagnosis. An abnormal result does not always mean a baby has a rare condition, but it may indicate they are at increased risk.

    If a baby is identified as being high risk, further investigations are often recommended to determine if there is a diagnosis, and healthcare providers and families can be notified immediately.

    Over recent years, WA has led the country in developing the NBS National Policy Framework and overseeing a robust process of assessing nominated conditions for inclusion into Australian NBS Programs.

    The WA Department of Health led the evidence review of the first condition to be assessed under the NBS National Policy Framework, congenital adrenal hyperplasia (CAH).

    CAH is a rare, inherited condition that affects around one in 15,000 babies. CAH affects the production of hormones from the adrenal glands. Infants with the most severe form of CAH are at risk of adrenal crisis and may die within the first few weeks of life.

    CAH will be added to the NBS Program in an ongoing manner following establishment of the required staffing and equipment, in accordance with the national recommendation endorsed by Australian governments.

    As stated by Health Minister Roger Cook:

    “The McGowan Government is committed to providing safe and effective screening programs for the WA population.

    “Over recent years, WA has led the country in developing the NBS National Policy Framework and overseeing a robust process of assessing nominated conditions for inclusion into Australian NBS Programs.

    “Spinal muscular atrophy (SMA) is a devastating genetic condition that in its most severe form can lead to death within the first year of life. Previously no curative treatment has existed.

    “The WA pilot program for SMA will create the evidence needed for the WA Chief Medical Officer to determine the appropriateness of routinely including this condition in our NBS Program.” 

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