WELCOME TO
THE NEWBORN SCREENING COLLABORATIVE
The Newborn Screening Collaborative are a collective of UK rare disease charities, who have joined together to push for positive progress in the field of newborn screening and early intervention.
This site will bring together resources and materials to help other charities/advocates with the process
OUR MISSION & HISTORY.
The UK Newborn Screening Collaborative was founded in 2020 when 14 principle rare disease patient organisations, plus Genetic Alliance UK, joined forces to campaign for improved newborn screening and to support each other through the process of adding conditions to the UK heel-prick, once they meet National Screening Committee (NSC) eligibility criteria. Together the Collaborative represents over 500 rare diseases and thousands of patients.
The UK Newborn Screening Programme is lagging behind that of many other high-income countries. Inefficient and outdated processes and bureaucracy are failing to keep pace with rapid developments in science and technology and result in significant inequity to our children.
The UK system requires urgent revision in order to harness the potential of cutting-edge advances in science and technology, such as Genomic screening and gene therapies, and to guarantee equality of health outcomes for all. Many other countries screen for considerably more diseases. The US tops the global list, screening its babies for up to 59 depending on the state, Iceland screens for 47 and Italy screens for 43 diseases. UK policy is clearly out of step with medical advances and other high-income countries.
NEWBORN BLOODSPOT
TEST PROGRAMME BACKGROUND
The Newborn Screening Collaborative is dedicated to ensuring that Inherited Metabolic Disorders (IMDs) are added to the UK’s Newborn Bloodspot Screening (NBS) Programme to guarantee timely diagnosis. We are proud to be connected with numerous experts across the world in support of this common goal.
However the current system for accepting new disorders onto the UK programme remains a very complex and lengthy process. The criteria and standards for screening are set and monitored by the National Screening Committee and Public Health England.
Considerations and evidence required include:
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There should be an acceptable treatment for patients with the disease
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The facilities for diagnosis and treatment should be available
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There should be a recognised latent or early symptomatic stage
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There should be a suitable test or examination which has few false positives and few false negatives
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The test or examination should be ethically acceptable
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The cost, including diagnosis and subsequent treatment, should be economically balanced in relation to expenditure on medical care without treatment intervention
Rare Diseases disproportionally affect children and diagnostic delays result in unnecessary suffering and undue burden on the health service.
Newborn screening has the power to dramatically improve children’s lives, by facilitating early access to treatment, maximising the chance for eligibility for treatments and reducing the chance for serious effects of disease prior to treatment.
In the United Kingdom (UK) babies are screened via the heel-prick test (also known as the blood spot or Guthrie test) at 5 or 6 days old. A midwife visits the family home and takes a blood sample by making a small prick on the baby’s heel. The blood sample is then sent to a laboratory, where it is analysed or ‘screened’ for 9 rare disorders; sickle cell disease (SCD), cystic fibrosis (CF), congenital hypothyroidism (CHT), phenylketonuria (PKU), medium-chain acyl-CoA dehydrogenase deficiency (MCADD), maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), homocystinuria (HCU).
Owing to the rarity of Inherited Metabolic Disorders (IMDs) and other very serious conditions, many children are misdiagnosed or diagnosed at a point where the disease has already progressed too far for cutting-edge treatments such as gene therapy to be of benefit.
Gathering the research required to demonstrate the above requirements is difficult. It is an expensive process, with many of the above stages costing tens of thousands of pounds. Owing to shortfalls in NHS funding, patient organisations are forced to commission elements including developing of test kits and an economic evaluation which are required as part of the application process.
In addition, many conditions are rejected because of lack of evidence, however most viable treatments have limited evidence due to the rarity of the disease and small patient cohorts.
*Current members of the Newborn Screening Collaborative are listed below and additional patient organisations are welcome to join.
Email contact@archangel.org.uk for further details on becoming a member or for the further thinking behind the specified policy changes.
For further details of the research behind the policy changes, please email contact@archangel.org.uk
