Newborn Screening for HFI
We are working to add Hereditary Fructose Intolerance to the Australian Newborn Bloodspot Screening Program — so no baby with HFI goes undetected.
PROJECT PERIOD: Dec 2026 – Jun 2028
COVERAGE: National
Right now, every baby born in Australia is tested for dozens of serious conditions through a simple heel-prick bloodspot test. HFI is not one of them. That means infants with HFI are sent home and fed fructose-containing foods (including formula) before anyone knows they are affected — causing damage that could have been prevented from day one.
Why This Matters
1 in 20,000
Australians estimated to be affected by HFI
25–30
New HFI babies born in Australia each year
0
Australian newborn screening programs that currently test for HFI
Without early identification, infants with HFI are routinely exposed to fructose, sucrose, and sorbitol — the everyday sugars found in breast milk substitutes, baby foods, and medications — before a diagnosis is made. This causes a toxic build-up in the liver and kidneys, leading to hypoglycaemia, organ damage, and, in unrecognised cases, death.
HFI is also routinely misdiagnosed as colic, feeding problems, or liver disease. Many people — including our own Founder, Corinne Lawson, who was not diagnosed until age 45 — live with unrecognised HFI for decades, sustaining cumulative harm with every meal.
One of the most dangerous risks: clinicians sometimes order a hydrogen breath test for suspected fructose intolerance. In a person with HFI, this test can cause seizures, coma, and death. A newborn screening diagnosis would eliminate this risk entirely.
What We Are Doing
HFI Support Australia is advocating for HFI to be added to the Australian Newborn Bloodspot Screening (NBS) Program — the universal heel-prick test offered to every baby born in Australia within days of birth.
Advances in genomic screening technology mean that testing for HFI (via the ALDOB gene) is now technically feasible and cost-effective as part of an expanded newborn panel. We are building the evidence base and stakeholder support needed to make a compelling formal submission to the Australasian Newborn Bloodspot Screening Governance Group (ANSGGG) — the body responsible for deciding which conditions are included in the national program.
- We will conduct a systematic review of published international literature on HFI newborn screening — examining feasibility, cost-effectiveness, and evidence from European programs. Alongside this, we will survey the Australian HFI community to document real diagnostic journeys, delays, and impacts, creating an evidence base grounded in lived experience as well as science.
- We will engage metabolic clinicians, paediatricians, and newborn screening laboratories across all states and territories, seeking clinical endorsements and technical advice. We will also formally approach the ANSGGG for a pre-submission consultation.
- We will draft and lodge a complete, evidence-based submission to the ANSGGG calling for HFI inclusion in the national screening panel. This is the culmination of the project — a document that puts the case for every future Australian baby born with HFI to be identified, before the damage begins.
What We Will Deliver
- A systematic evidence report synthesising published literature on HFI newborn screening feasibility, international precedents, and cost-effectiveness (minimum 20 peer-reviewed sources).
- A patient community survey report capturing the diagnostic journeys and lived experiences of Australians with HFI (minimum 30 responses).
- A national stakeholder engagement program with metabolic clinicians, screening laboratories, PHNs, and ACCHO representatives — including a minimum of five clinical endorsement letters.
- A formal submission to the ANSGGG for HFI inclusion in the Australian Newborn Bloodspot Screening Program.
- A final project report evaluating outcomes against all key performance indicators.
Our Team
This project is led by the HFI Support Australia board — all of whom have direct lived experience of HFI, combined with deep professional expertise.
Want to Help?
Your story matters. If you have HFI and are willing to share your diagnostic experience, please consider participating in our community survey when it opens.
