Welcome to the second 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.
Please let us know your thoughts on our newsletter, including topics you’d like to see covered in future editions. Get in touch by emailing Tom Hammond, Communications and Engagement Lead, at Thomas.Hammond@uhb.nhs.uk
Multi-million pound funding for new research
More than £100 million in funding has been announced to support earlier diagnosis of rare genetic conditions in newborns.
The Newborn Genomes Programme could potentially help thousands of babies a year by providing faster access to treatments. It aims to sequence the genomes of 100,000 babies over the course of the study, which will begin later this year.
By screening a baby’s entire genome – their entire genetic code – hundreds of rare diseases, which in many cases are treatable, could be detected.
Dr Rich Scott, Chief Medical Officer for Genomics England, said:
“Our goal in the Newborn Genomes Programme is to do more for the thousands of children born every year in the UK with a treatable genetic condition.
“We want to be able to say to parents that we’ve done the best we can to identify and do something about these life-changing illnesses, in a timely way before the damage these conditions can cause has been done.
The funding is part of a wider package announced by the Health and Social Care Secretary in December 2022.
A family in Surrey are one of the first in the country to receive results from a new genomic testing project.
Leo Swarbrick, who is 17 months old, was tested for monogenic Inflammatory Bowel Disease (IBD), with the results coming back negative.
The project is being delivered by the Central and South Genomic Medicine Service Alliance, which works across the West Midlands, Thames Valley and Wessex.
Leo’s mum, Sioned, said: “Doctors, including Dr Nadeem Afzal, treating Leo suspected he may have a rare condition so suggested genetic testing, alongside the other tests and treatment he was having.
“I think genetic testing can only be a good thing if it helps to find answers for families like ours.”
NHS Genomics Strategy launched
In October 2022, Amanda Pritchard, CEO of NHS England, launched the first NHS Genomics Strategy, which set out the ambitions for embedding genomics in the NHS over the next five years.
The strategy had four priorities:
- Embedding genomics across the NHS
- Delivering equitable genomic testing for improved outcomes
- Enabling genomics to be at the forefront of the data and digital revolution
- Evolving the service through cutting-edge science, research and innovation
The full strategy is available to read online: NHS England » Accelerating genomic medicine in the NHS
PPI Panel first meeting
Our Patient and Public Involvement Panel held their first meeting earlier this year.
The meeting included introductions to the work CAS GMSA do, and the 23/24 Business Plan, as well as a discussion on events and campaigns we will be holding over the coming year.
Our panel currently has eight members. Recruitment is currently ongoing. We are particularly keen to hear from people from diverse communities, people from Black and minority ethnic backgrounds, and those who historically have not been involved in PPI activities.
More information is available on our website.
We have recently updated our website with information on our regional and national projects.
The project pages provide an introduction to each project, as well as project highlights to date.
You can view all the project pages online: Transformation projects
Festival of Genomics
The Festival of Genomics, the largest genomics event in the UK, took place in January, with three members of our team taking part.
Our Lead Nurses, Donna Gill and Philandra Costello, , took part in a roundtable discussion about genomics in nursing and midwifery.
Hayley Wickens, our consultant pharmacist, led a pharmacy roundtable.
Tony Thornburn, our Patient and Public Involvement Panel Chair, gave a talk on patient engagement, as well as chairing an engaging session on ways to involve patients effectively.
More information on the Festival is available on their website.
New genomics expert webinar series
Health Education England’s Genomics Education Programme (GEP) has launched a new series of horizon-scanning expert webinars, LinkAGE (Linking Academia with Genomics Education).
Find out more about the webinars on the GEP event page.
Reserve your place today using this registration form.
A patient in Birmingham has become one of the first in the country to take part in a national genetic testing project, with the results guiding his treatment.
Mohammed Usman, 9 months old, is a patient at Birmingham Children’s Hospital. Doctors suspected a potential genetic cause for his symptoms, and recommended genetic testing for monogenic Inflammatory Bowel Disease (IBD).
Usman’s father, Sabir Nauman, said: “We didn’t know this kind of test was available, but once we found out about it, were keen to get it done.
“The test results have answered a lot of questions for us and the medical team. We know as parents what’s happening, and the doctors have been really supportive, telling us what the tests look for and what the results mean.”
Read the full story on our website.
Funded Genomics Course for Healthcare Professionals
The University of the West of England, in collaboration with Macmillan Cancer Support, the British Heart Foundation and the GEP, has announced a new run of its popular blended learning course: Genomics and Counselling Skills.
Developed in collaboration with NHS genomics specialists, the course is now being offered to all healthcare professionals and has been designed for learners with no previous knowledge of genomics.
It will provide learners with an introduction to the key areas of genomics, human genetics, and genetic variation in the fields of cancer, rare genetic conditions and infectious diseases.
Beginning on 11 September 2023, participants can expect to spend six to eight hours per week engaging with the module content with teaching delivered via a virtual learning environment, Blackboard, and live interactive workshops via Blackboard Collaborate.
The course is accredited with 15 masters level credits.
Funded places are available, and you can find out more about the course and how to apply on the Genomics Education website.
Applications close on Monday 22May 2023.
Test Directory Update
New tests and amendments have now been added to the National Genomic Test Directory as part of an update in April 2023.
The Test Directory now covers more than 3,200 rare diseases and over 200 cancer indications. More detailed information on tests is included within the Directory.
If you have a question or would like to find out more about the Test Directory, please email firstname.lastname@example.org
New course: Clinician’s Guide to Genomic Testing for Rare Disease
On Rare Disease Day 2023, the Genomics Education Programme officially launched its new online course: Genomics in the NHS: A Clinician’s Guide to Genomic Testing for Rare Disease.
This free two-week course provides a practical introduction to genomic testing for rare disease, taking clinicians through the process of using the National Genomic Test Directory, including ordering tests and feeding back results to patients. Learning is delivered through a variety of media including video tutorials and animations.
Find out more on this dedicated webpage.
Keep in touch
You can follow us on Twitter @CAS_Genomics or find out more about our work on our website centralsouthgenomics.nhs.uk.
If you have any questions, please email GMSAAdmin@uhb.nhs.uk