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Graham excited by challenges facing the evolving UK NSC

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The UK National Screening Committee (UK NSC) has changed considerably since Dr Graham Shortland OBE was first asked to work with the committee.

Graham joined the committee as a paediatric specialist and played a significant role in the expansion of the newborn blood spot screening programme to screen for inherited metabolic diseases (IMDs).

He has been the UK NSC’s vice-chair since 2017, firstly under previous chair Prof Bob Steele and then under current chair Prof Sir Mike Richards. He said:

The committee is certainly evolving. We are at a very interesting stage, both with the expanded remit to consider targeted screening and with the increasing influence of genomics and other new technologies. It is a challenging time and is certainly never boring.

A passion for paediatrics

Graham grew up in Welwyn Garden City, Hertfordshire, attended his local comprehensive school and was the first person in his family to go to university.

He studied medicine at Southampton and graduated in 1983 before going on to specialise in paediatrics.

I chose paediatrics over obstetrics and gynaecology, partly because I couldn’t tie knots. I have thoroughly enjoyed it and have never looked back.

I think paediatrics is about ensuring equal access for all children and it is a broad church, including basic science and a strong social dimension, which for me is a very positive attribute. The ability to change children’s lives quickly is very rewarding but it can require acting quickly.

Graham trained in Southampton, Cardiff and Bristol and was a lecturer in Cardiff. In Bristol, his interest in IMDs was inspired by working with Professor John Walter as his research fellow and with Professor Peter Fleming.

In 1993, he was appointed a consultant in paediatric medicine in Cardiff and his interest in metabolic diseases continued to grow. He helped set up the South Wales IMD service and has held senior positions in a number of IMD organisations, including being Chair of the British Inherited Metabolic Diseases Group from 2002 to 2008.

When first appointed in Cardiff, he built up vast clinical experience, initially providing Consultant cover in Community Paediatrics, General Paediatrics, Paediatric Intensive Care and Regional Neonatal Services, and finally developing IMDs as his main area of clinical interest.

Graham has also held senior managerial roles and chaired several groups on behalf of Welsh government. Between 2010 and 2019, he was the Executive Medical Director of the Cardiff and Vale University Health Board. He chaired the Rare Diseases Implementation Group in Wales and secured significant funding from the Welsh Government for a 3-year pilot programme to establish the first UK Syndrome Without A Name (SWAN) clinic to look at shortening the ‘diagnostic odyssey’ for people with undiagnosed rare diseases.

In 2020, Graham received an OBE in recognition for his services to paediatrics, patient safety and the NHS in Wales.

UK NSC’s quality checking role is its strength

Graham has worked with the UK NSC as a paediatric specialist and has served on a number of its sub-committees.

He was closely involved in work to add IMDs to the conditions which the NHS Newborn Blood Spot Screening Programme screens for. This started with MCADD (medium-chain acyl-CoA dehydrogenase deficiency) in 2009 and 4 more followed after a 2014 evidence review: Glutaric aciduria type 1 (GA1), Homocystinuria (HCU), Isovaleric acidaemia (IVA) and Maple syrup urine disease (MSUD).

Graham has been vice-chair of the UK NSC since 2017 and sees part of his role as providing advice and support for appropriate succession planning for paediatric rare disease expertise and leadership on the committee.

My other leadership roles, such as the medical director post and frequent engagement with government, particularly the Welsh government, have been useful for my role as vice-chair of the UK NSC. They have helped me understand how issues and politics with a small p and big P can play out.

The UK NSC is really important as a mechanism for ensuring that we’ve got high quality screening programmes for the whole population and it’s very highly regarded throughout the world.

The strength of the UK NSC is about maintaining that quality and providing screening advice that is taken up across all the 4 UK nations providing equitable services.

He added:

The committee has always set a high evidential bar and that has attracted some criticism in the past when it has asked for more evidence before making recommendations. We are at a very interesting stage, both with the UK NSC’s expanded remit and with the increasing influence of genomics and other technologies.

Other developments in the work of the UK NSC have included the increased use of modelling and the need to be clear about whether programmes are implementable in the wider clinical setting of the NHS.

The UK NSC is also continuing to improve and find ways and means of engaging with professionals, patients, carers and families, which is very important. It is a huge pleasure and privilege to serve on the committee, particularly with so many inspirational people contributing to its work and given the nature of its challenges. Ultimately the aim is to improve outcomes for the UK population.

Outside work

Graham is a lifelong Tottenham Hotspur football fan whose other sporting interests last year included spending seven weeks travelling around France with family and friends to follow England and Wales at the 2023 Rugby World Cup.

He is a keen sailor and RYA qualified Yachtmaster and sails out of Plymouth along the Devon and Cornwall coast, across the Channel and to the Scilly Isles, so he has plenty to keep him busy in his semi-retirement.

Graham, who retired from active clinical work in January 2022, continues to live in Cardiff and has 3 grown-up sons.

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