NBS Campaign Update

Posted on: 16/04/2021

Today Nickie Aiken MP and I met with Baroness Nicola Blackwood (Chairperson) and Dr. Richard Scott (Clinical Lead for Rare Disease)  from Genomics England, in order to discuss next steps our newborn screening campaign and how we can align with Genomics England in their important work in this area.

The UK has made incredible strides in genomic diagnositics and there is much enthusiasm and support from the government for genomic screening as part of our newborn screening testing in the future. However it is clear that current National Screening Committee (NSC) infrastructure is already struggling with its slate and it will therefore be ill-equipped to meet the demands of progress in diagnostic technology and treatments such as Genomics and gene therapies. The advent of opportunities for Genomic screening at birth will significantly increase the number of conditions potentially identified. However, many conditions identified in a first-tier screen may not have potential for secondary testing and/or treatment options. Genomic screening will thus significantly increase the demand for NSC consideration of ethics, validation of new pathways for treatment and case management of many more conditions. In additon, whilst ground-breaking developments in Genomic screening are welcomed, important and laudable, it is also important to recognise the timing and limits of potential Genomic screening for all children at birth. Scientific colleagues estimate that functional genomic newborn screening is many years away and at that point it is unlikely to be viable as a first-tier screen for several conditions, for which it will only have potential as additional or confirmatory screening. There is a clear duty of care not to neglect the conditions which could technically be added to the NBS programme now and those for which Genomic screening will not replace biochemical screening in the longer term. 

Baroness Blackwood and Dr. Scott fully supported our campaign aims and were keen to have an ongoing dialogue with us moving forwards. Baroness Blackwood also gave us some invaluable advice to unite the rare disease community to promote the same NBS campaign, since it was apparent that there were multiple campaigns for individual conditions already in the public domain, which could become confusing for policy makers. We are extremely grateful for Baroness Blackwood's support and insight and our newborn screening stakeholder group will now look very closely at how we move our campaign forwards.