Central and South Genomics Newsletter

Summer 2022


Welcome to the first edition of the Central and South (CAS) Genomics Newsletter, in which we share updates from the CAS Genomic Medicine Service and Alliance and Genomic Laboratory Hub. 

The newsletter features our latest news and updates on key areas. We welcome any and all feedback. If you have any ideas or suggestions for something you would like to see included in future editions, news items that you would like to submit for consideration, or any other comments, please do let us know.

CAS GMSA appoint new Clinical Director

The Central and South Genomic Medicine Service Alliance are delighted to announce that Professor Tony Williams was appointed as its new Clinical Director earlier this year.

Prof Williams replaced Prof Dion Morton, who was the Interim Clinical Director for the CAS GMSA since it was established by NHS England in December 2020.

Prof Williams said: “I’ve been involved in the genomics sphere for many years, having helped establish the Wessex Genomic Medicine Centre for the 100k project, and am delighted to now be appointed Clinical Director for the Central and South GMSA.

“Genomics is a really exciting field to be part of, as it has the potential to completely transform healthcare through personalised treatments, as well as earlier and more accurate diagnoses.

“I’m looking forward to working with colleagues across our region and the other GMSAs and Genomic Laboratory Hubs to help bring genomics, and all the benefits it can hold for patients, into standard NHS practice.”

Prof Williams has previously been the Director of the Experimental Cancer Medicine Centre in Southampton between 2013 and 2018, later becoming the Cancer Medical Lead of the Central and South Genomic Laboratory Hub in 2019.

Genomics Conversation Week

Genomics Conversation Week, developed by the Genomics Education team at Health Education England, took place in June. We shared a wide variety of social media posts throughout the week, including tweets from members of our team, facts of the day, and links to wider resources.

Open to all healthcare professionals, the aim of #GenomicsConversation week is to improve confidence amongst NHS staff when talking about genomics. HEE dedicated each day to one of five themes, with tailored activities and resources made available.

In Central and South, a Genomics Masterclass was held virtually for nurses, midwives and allied health professionals in our region. The Masterclass was attended by 60 people from across our region. Further Masterclasses are currently in the planning stages, and should take place later this year.

Find out more about Genomics Conversation week.

Celebration of Genomics event

Some colleagues may have received an invitation to a celebration event Central and South were intending to hold last month. Due to circumstances outside our control, we unfortunately had to take the difficult decision to reschedule the event at late notice. A rescheduled Genomics Showcase will now take place between 10am and 2pm on October 17. For more information or to register for the event, please contact us.

Long Read Sequencing event

On 20 July 2022 colleagues from across the Central and South Genomic Medicine Service Alliance region met to share expertise in the exciting field of Long Read Sequencing Technologies.

Attendees travelled from across the geography, which covers the West Midlands, Thames Valley and Wessex, for the networking event which provided an introduction to the topic, as well as the sharing of experience and expertise, which aimed to support the development and implementation of this rapidly advancing technology into healthcare.  The event welcomed those of all levels from early career researchers and PhD students to clinical directors.

The event has received positive feedback from attendees, who hope to meet again in the autumn. During the event a set of aims and objectives were set to support the structure and purpose of the group going forward. The aims include: sharing best practice, sharing cases and regions of the genome to explore, what can be technically done, coalesce and scientifically push long read technology to the forefront of Genomic Medicine in the NHS.

If you would like to learn more about the event, or register your interest for future events please email Dani Lynch at Daniella.Lynch3@uhb.nhs.uk

Read the full story on our website.

New test for eye cancer could help save sight

A life-saving test that allows doctors to spot a rare form of eye cancer in babies in the womb is being rolled out by the NHS in England this week.

Now, thanks to a new NHS test developed at Birmingham Women’s and Children’s NHS Foundation Trust, the lead Trust for the Central and South Genomic Laboratory Hub, babies identified as being at risk of developing retinoblastoma can be monitored and treated sooner – increasing the chance of saving their eyesight and potentially their lives.

Symptoms of retinoblastoma are hard to detect and a diagnosis can normally only be made once the tumour has progressed and the eye can’t be saved.

The new non-invasive test can detect changes in the genes in DNA and is likely to identify around 50 infants with retinoblastoma each year, in the latest example of the NHS harnessing the power of genomics to diagnose and treat patients faster and more effectively.

Read the full story.

Other recent appointments

  • Phil Costello and Donna Gillen have been appointed as Lead Nurses for Central and South GMSA
  • Tony Thornburn has been appointed as the Alliance Network Chair

GeNotes for Clinicians

Health Education England’s Genomics Education Programme (GEP) has developed an exciting new flagship resource for healthcare professionals, in collaboration with expert working groups across the NHS. GeNotes – or genomic notes for clinicians – is being released on a public beta basis, with two packages of resources now available to access.

GeNotes offers ‘just in time’ education on when, why and how to request genomic testing as well as feeding back results to patients, and is based around – and designed to support – the latest National Genomic Test Directory. But that’s not all. GeNotes is the first resource of its kind to offer both practical and educational information on genomic testing to NHS clinicians at the point of need, underpinned by supporting education for those keen to extend their knowledge.

Organised into two tiers, GeNotes offers ‘In the Clinic’ scenarios focused on the point of patient care, while the ‘Knowledge Hub’ acts as an encyclopaedia of educational resources to provide learning opportunities for those keen to extend their knowledge.

Find out more about this fabulous new resource on the GEP website.

Patient and public involvement

Do you want to shape the future of genomics?

Members of the network are invited to join the Central and South Genomic Medicine Service Alliance’s (CAS GMSA) Patient and Public Involvement Panel.

The panel will help bring the views of NHS users, family members and carers to the forefront of all CAS GMSA activities. Panel members will work closely with members of the CAS GMSA and GLH to develop and improve the service, and inform how genomic medicine is provided across NHS Trusts in the Central and South geography (West Midlands, Thames Valley and Wessex).

The panel will have 10 members, with one member of the panel acting as Chair. The panel will be supported by the CAS GMSA Communications and Engagement Lead.

Meetings will be held quarterly. Between meetings, panel members may be asked to work on activities raised at the meeting, with email communication and the reading and reviewing of documents likely. This is likely to mean a total commitment of 5-10 hours per month. This is a paid role, with the panel adhering to the National Institute for Health Research’s payment guidance for PPI work, with payment for people’s time and attendance at meetings.

CAS GMSA are particularly keen to hear from people from diverse communities, people from Black and minority ethnic backgrounds, and by those who historically have not been involved.

More information is available at centralsouthgenomics.nhs.uk

Genomic Test Directory updates

In April 2022, updates were made to the National Genomic Test Directory, which specifies which genomic tests are commissioned by the NHS in England, the technology by which they are available, and the patients who will be eligible to access to a test.

A number of changes were made which impacted the genomic tests for cancer as well as rare and inherited disease.

To view the full updated National Test Directories, which include patient eligibility criteria and information about the clinical specialities who would be expected to request tests, please visit the NHS England and NHS Improvement website: https://www.england.nhs.uk/publication/national-genomic-test-directories/ 

The Central and South Genomic Laboratory Hub (GLH) is delivering these tests for patients across our geography, which covers the West Midlands, Thames Valley and Wessex. More information on test ordering is available on our website.  

2023 update for the National Genomic Test Directory

The application phase for the 2023 update of the National Genomic Test Directory is currently open. The deadline for applications is 31 August 2022.

 More information on the application process and publication details for the Test Directory are on our website.

You can follow us on Twitter @CAS_Genomics or find out more on our website centralsouthgenomics.nhs.uk. If you have comments, thoughts or suggestions please contact our Communications and Engagement Lead via email: Thomas.Hammond@uhb.nhs.uk