Weekly update – Wales

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24 July 2020

Rare Disease Implementation Group update, whole genome sequencing for sick neonates and more...

Rare Disease Implementation Group (RDIG) Update

  • RDIG meeting was held last Friday and recommendations were presented from our report on Rare Reality of COVID 19.
  • The Chair will write to the Chief Medical Officer in Wales, Frank Atherton, to highlight the report findings and requests for priority testing/ PPE/ vaccine when available.
  • We have been invited to develop a key principles  document for rare diseases to be included as part of the work by Welsh Government on Essential Services.
  • Wales will be extending all Implementation Groups to March 2022 so the group will continue to work towards delivering the Welsh Plan until a decision is taken about its future.


Whole genome sequencing for sick neonates

  • In April the All Wales Medical Genomics Service launched a new service called WINGS – whole genome sequencing of sick neonates in NHS Wales.
  • There is a quick turnaround time for testing and so far 50% of children tested have received a diagnosis.
  • CARIS – the Congenital Anomaly and Rare Disease Information Service which collects anonymous data for those up to the age of 18 has received support from Public Health Wales to extend the register to adults as well as children.


Social distancing symbol

  • A new ‘Distance aware’ Symbol has been developed by Helen Illiff, an anaesthetics trainee at Prince Charles Hospital and is now being produced and distributed by NHS Wales
  • The symbol has been endorsed by Welsh Government.
  • This week Helen Iliff joined our community check in to share with the group the work that she and Baroness Ilora Finlay have spearheaded, to secure endorsement from the Welsh Government for a social distancing symbol.
  • Helen will be joining us for next week’s Genomics Cafe on Thursday morning, to attend email emma@geneticalliance.org.uk.


Written statement on redesigning access to urgent and emergency care services in Wales

Health Minsiter, Vaughan Gething announced this week that Welsh Government are taking a range of actions in response to the challenges of coronavirus as part of a redesign of the urgent and emergency care system.

Some changes include:

  • A National Video Consultation Service that has been rolled out across all health sectors in Wales. Over 15,000 consultations have already been undertaken across Primary, Secondary and Community Care settings and feedback has been overwhelmingly positive.
  • £650,000 has been invested to establish a new system to connect health care professionals in the community with specialist consultants to enable safe decisions about preventing unnecessary ambulance transport and admission to hospital. Wales is the first UK country to offer all NHS primary care clinicians with this technology.
  • Health Boards are working with the Welsh Ambulance Services NHS Trust to develop alternative, community based pathways for patients with respiratory complaints to prevent unnecessary admission to hospital.
  • A new telephone triage service is being trialled to direct people to the right service for their condition or injury before going to A & E.


To find out more about anything in this article, email emma@geneticalliance.org.uk.