Dr Graham Shortland OBE 

Consultant Paediatrician, Cardiff

Dr Graham Shortland is a senior clinician and leader with extensive experience in the field of rare diseases and inherited metabolic diseases. Graham has previously been Chair of the BIMDG.

Currently he is supporting and developing the UK-wide strategy for Rare Diseases as previously Chairman, and now member, of the Wales Rare Diseases Implementation Network (RDIN). He has secured significant funding for a pilot to provide services for patients with suspected rare diseases from Welsh Government, the Syndrome Without a Name Clinic (SWAN). 

He has been on UK National Screening Committee from 2017 to date and Vice Chair from 2022. Graham has been Executive Medical Director, Cardiff and Vale University Health Board (2010 to 2019) and has published widely in peer reviewed journals.

He was awarded an OBE for Services to Paediatrics, Patient Safety and the NHS in Wales, in the Queens Birthday Honours List June 2020.

Next Steps for Newborn Screening – NSC Update

Background: The UK National Screening Committee (UK NSC) advises ministers and the NHS in the four UK countries about all aspects of population screening, including newborn screening and supports implementation of screening programmes.

The criteria upon which the UK National Screening Committee decide whether a disease or condition should be considered for a population screening programme are based on those originally introduced by Wilson and Jungner in their 1968 “Principles and Practice of Screening for Disease” as commissioned by the World Health Organisation. The criteria were last updated in 2015 by NSC and are whole population based.  

Situation: Newborn bloodspot screening is a highly effective programme which has developed over many years and saved many lives and prevented significant developmental delay. The programme has changed and adapted over many years introducing new conditions.

Assessment: There is a clear recognition of change required in all population screening programmes, including newborn bloodspot screening, embracing new technologies (genomics) to improve the diagnosis of rare diseases.

This comes with risks and benefits which need careful consideration by healthcare professionals and society more widely.

The talk will be an update on where the NSC is and future plans for expanded newborn screening.