After four years of lobbying, Australian Sickle Cell Advocacy Inc (ASCA) successfully advocated for the inclusion of Newborn Screening for Sickle Cell Disease in Australia.
ASCA envisions a future where every newborn undergoes screening for Sickle Cell Disease (SCD) at birth, ensuring timely diagnosis and access to effective treatment. Our aim is to improve health outcomes for all affected infants, enhance their quality of life, and promote awareness and understanding of SCD within the community.
What is Newborn Screening?
Newborn screening is a public health program that tests babies shortly after birth for certain serious but treatable conditions. The goal is to identify health issues early, before symptoms develop, so that babies can receive prompt treatment, which can prevent long-term health problems or even death.
Here’s what you should know about newborn screening:
1. What It Involves:
- Blood Test: A small sample of blood is typically taken from the baby’s heel (called a heel prick or “blood spot test”) within 24-48 hours after birth. The blood is tested for a variety of disorders.
- Other Tests: Some places may also test the baby’s hearing or conduct a pulse oximetry test to check for heart problems.
2. What It Screens For:
Newborn screening tests for a variety of conditions, which may include:
- Genetic Disorders: Such as cystic fibrosis, sickle cell disease, and phenylketonuria (PKU).
- Hormonal Disorders: Like congenital hypothyroidism, which affects the thyroid gland and can impact growth and development.
- Metabolic Disorders: For example, galactosemia, a condition that affects the body’s ability to process certain sugars.
- Other Disorders: These may include hearing loss, heart defects, and certain rare but serious conditions.
3. Why It’s Important:
- Early Detection: Many of the conditions tested for in newborn screening do not show symptoms immediately but can cause severe health problems or developmental delays if not treated early.
- Intervention: If a baby tests positive for any condition, follow-up testing and early treatments can be initiated. Early treatment can prevent or reduce complications, improve long-term health outcomes, and in some cases, save the baby’s life.
4. When It’s Done:
Newborn screening is usually performed within the first 24 to 48 hours of life. In some cases, a second sample may be taken a few days later to confirm the results.
5. What Happens After Screening:
- Normal Results: If the results are normal, the baby’s health is monitored, and there is no need for further testing.
- Abnormal Results: If any condition is detected, the healthcare provider will recommend additional tests to confirm the diagnosis. Most babies who screen positive for a disorder do not actually have the condition (i.e a false-positive result), but the follow-up is crucial.
6. How It Helps:
Newborn screening saves lives and improves health outcomes by allowing for early intervention in conditions that would otherwise be difficult to treat if identified later in life. For example, babies with conditions like PKU can be put on a special diet to prevent intellectual disabilities, and babies with sickle cell disease can start preventive care, such as folic acid supplements, to avoid serious complications.
Newborn screening is a vital tool in ensuring that all babies have the best possible start in life.
Newborn Screening for Sickle Cell Disease
Newborn screening for SCD is a routine test performed shortly after birth to identify babies who may have sickle cell disease or other haemoglobin disorders. The test is important because early diagnosis allows for timely intervention, which can help prevent complications and improve outcomes for the child.
Here’s how the process typically works:
Testing Method: The screening involves a heel prick test to collect a small sample of blood. This sample is analysed for the presence of sickle haemoglobin or abnormal haemoglobin.
What It Detects: The test can detect several types of haemoglobin disorders, including:
- Sickle cell anaemia (the most common form of sickle cell disease)
- Sickle cell trait (where a person carries one sickle cell gene but usually doesn’t show symptoms)
- Other hemoglobinopathies (such as hemoglobin C disease or beta-thalassemia)
Importance of Early Detection:
- If a baby is diagnosed with sickle cell disease, doctors can start treatments and preventive measures early. This includes vaccinations, antibiotics, and sometimes blood transfusions to help prevent infections and other complications that can arise from the disease.
- Children with sickle cell disease may experience painful episodes, organ damage, or other severe health issues, so early monitoring and intervention are essential.
Follow-Up: If a baby tests positive for sickle cell disease or a related disorder, further confirmatory testing will be done to determine the exact nature of the condition. The healthcare team will also provide guidance on managing the condition as the child grows.
Newborn screening for sickle cell disease is widely implemented in many countries and is crucial in reducing mortality and improving quality of life for those affected by the disease
ASCA'S timeline to obtaining NBS for SCD in Australia
The Australian Sickle Cell Advocacy Inc. (ASCA) has remained steadfast in its commitment to ensuring that newborns in Australia are screened for Sickle Cell Disease (SCD). The advocacy journey began in 2020, starting with the request for the inclusion of SCD in the Newborn Bloodspot Screening (NBS) program.
In November 2020: ASCA made significant progress by successfully submitting an official application to the Department of Health and Aged Care.
In July 2023: the application was deferred.
On February 10, 2024: The Medical Services Advisory Committee officially granted the recommendation to screen babies for sickle cell disease in Australia, marking a significant milestone in our advocacy efforts.
On February 15, 2024: An official press release was issued, confirming that SCD had been successfully added to the Australian NBS program.
On 29th February 2024: Hon Mark Butler MP, the Minister for Health and Aged Care, officially announced the recommendation from the Medical Services Advisory Committee (MSAC) to include Sickle Cell Disease (SCD) in the Newborn Bloodspot Screening (NBS) program.
On 25th September 2024: All health state ministers agreed to include SCD in the Newborn Bloodspot Screening program nationally, ASCA remains committed to advocating for this initiative. This decision represents a significant victory for our efforts.
