Newborn screening may expand to check for more illnesses

If you’ve given birth in hospital, you’ll likely remember your newborn undergoing a routine heel prick test, where a small sample of blood was taken to be screened. There are now moves to include testing for additional illnesses as part of this screening, which currently checks for things like cystic fibrosis. 

At the moment, babies who are just a couple of days old are screened for a range of about 30 rare illnesses using the ‘heel prick test’. A Newborn Bloodspot Screening working group met in Perth this week for a final consultation workshop, as a national policy framework is nutted out.

It’s this national policy that may expand the conditions included in newborn screening. Currently the range of illnesses that are screened as part of newborn testing can vary from state to state in Australia. Generally newborns will be tested for illnesses including: Phenylketonuria, hypothyroidism, cystic fibrosis and other rare metabolic disorders.

The working group is due to deliver its report next year, but Selina Metternick-Jones, from WA’s Office of Population Health Genomics tells the Herald Sun that there’s no guarantee more illnesses will be included in future testing.

“As technology improves, there’s an ability to test for new conditions, but in the past there hasn’t been any clear pathway… for a really considered assessment of the harms and benefits of screening for various conditions,” she said.

The Office of Population and Health Genomics indicates that yesterday’s consultation workshop will “not be a forum to nominate or debate conditions for inclusion in newborn screening programs”. The meeting was about considering policies and practices needed to support the continued success of newborn screening.

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