21 Dec Newborn Screening: the road to 2024
As we look forward to 2024, our Senior Account Executive, Robbie Lockyer, considers the outlook for newborn screening for rare diseases, and discusses whether the UK is will continue to fall behind our European neighbours.
Since the 1950s, when the newborn blood spot (NBS) screening programme was first introduced (commonly referred to as the heel prick test), screening for rare conditions have gradually trickled onto the programme. However, as we enter 2024, it’s noteworthy that only one condition was added in 2023; Tyrosinaemia type 1 (TYR1), a rare metabolic disorder with an incidence rate in the UK of 1 in 266,772. This raises the question: why so few additions, especially in the face of global technological advancements in genetic and blood testing technologies?
Recent research reveals that the UK is lagging behind our European peers in NBS screening programmes, dropping to 23rd place out of over 30, a decline from 18th place in 2022. As 2024 presents a new chapter for modern Britain, the need to leverage and strengthen relationships within the life sciences sector becomes more apparent, aiming to reclaim lost ground in comparison to the rest of Europe.
The complex nature of rare diseases can lead to a diagnostic odyssey, for example, multiple referrals and a long wait for a correct diagnosis – resulting in the window of opportunity for certain treatments being missed. Each year, a number of proposals are sent to the UKNSC for rare conditions to be included on the programme – but few, if any, make it onto the list. While it is promising that the recent review of the Rare Disease Action Plan listed “improving how decisions are made on newborn screening for rare diseases” as a key commitment, we await more detail on how to make this a reality.
The APPG for Muscular Dystrophy’s report on newborn screening for rare conditions emphasises the vital role in achieving timely diagnoses of rare conditions. Despite advancements in treatments and health support, the current processes and criteria used by the UK National Screening Committee (UKNSC) are not meeting the needs of the rare diseases community. The difficulty in advocating for newborn screening for rare conditions makes it challenging for babies with such conditions to access faster diagnoses and timely healthcare.
Furthermore, newborn bloodspot screening (NBS) policy is a contentious area in Europe, marked by variations in screening panels, approaches to evidence assessment, and the use of health economic modelling. A report by The Lancet Europe focusing on patient-driven principles for newborn screening provides a reference point for exploration and comparison with NBS policy development and screening practice in the UK. While the UK is generally well aligned with many recommended principles, areas of controversy and challenges persist. Topics like ‘actionability’ continue to be debated, while opportunities exist to enhance stakeholder participation, particularly in patient and public voice involvement in newborn screening systems.
The complexity of NBS screening is not unique to the UK; it is a topic of debate across Europe. By sharing UK practices and aligning them with patient-driven principles, there is an opportunity to stimulate further discussion on the challenges and opportunities of newborn screening, providing a cross-European baseline for screening policies.
NBS screening is a complex cycle Britain certainly can’t ride on its own. As we look into 2024 and beyond, the hope is that these discussions and comparisons will inform policy improvements and foster a collaborative approach across Europe, ultimately strengthening newborn screening systems for the benefit of individuals and families affected by rare conditions. I eagerly anticipate what 2024 will bring in the UK, and across Europe, within the field of newborn screening.