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Meet the Panel Calling for Newborn Screening for Rare Conditions

22 June 2023

In April, we held our All-Party Parliamentary Groups for muscular dystrophy meeting to discuss findings from the inquiry into newborn screening for rare conditions that the group conducted between October 2022 and February 2023. Hear from our panel of experts who are calling for newborn screening for rare conditions.

Faster diagnosis is vital

The first speaker on the panel, Rob Burley, Director of Care, Campaigns, and Support at Muscular Dystrophy UK (MDUK), provided an overview of the report which emphasised that newborn screening is a vital tool for receiving faster diagnosis. The inquiry had heard from over 40 different experts and people living with rare conditions, all of whom highlighted the challenges and barriers that are in the way of adding rare conditions, including SMA, to the newborn screening programme.

Currently, the UK screens for up to nine conditions at birth as part of newborn screening, falling behind its European counterparts. Many other countries with similar health systems, such as Germany, screen for more than 20 conditions at birth. The lower screening rate in the UK exists despite the evidence that late diagnosis is detrimental to the NHS and the wider economy.

The impact on people living with SMA

The second speaker on the panel, Portia Thorman, Advocacy Lead at Spinal Muscular Atrophy UK (SMA UK), whose son lives with SMA, highlighted the impact of late diagnosis on families with muscle-wasting conditions. She spoke about the extent of care and equipment requirements, as well as the economic impact on both the NHS and the wider education system if muscle-wasting conditions continue not to be screened timely and accurately.

Delays in diagnosis for rare conditions

Lastly, Rachel Clayton, Senior Policy and Public Affairs Officer at Genetic Alliance UK, explained that more than a third of people with a rare condition may wait more than five years to receive a diagnosis, and so changes are needed to ensure the provision of timely treatment, care, and support for those living with rare conditions.

Calls for reform

Genetic Alliance UK, with its 200 members of patient organisations, have made some enormous efforts to improve newborn screening in the UK, and have previously endorsed the patient charter on newborn screening with the APPG on Rare, Genetic and Undiagnosed Conditions.

During the open discussions, attendees expressed their frustration at the current newborn screening programme in the UK and its slow progress, especially compared to other countries. They agreed that expanding the newborn screening programme would benefit not only people living with muscle-wasting conditions and their families, but also the NHS and the wider economy.

Concluding the APPG, Mary Glindon, along with MDUK and other stakeholders, emphasised the need for a wider engagement with the UK NSC and other stakeholders, to ensure that the key recommendations in the inquiry report are heard and implemented.

For further information regarding the meeting, please find the full minutes here.

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