All Wales Medical Genomics Service

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All Wales Medical Genomics Service

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Specialist NHS service providing comprehensive genetic and genomic testing across Wales.

AWMGS supports patients, clinicians, and researchers by delivering diagnostic testing for inherited conditions, cancer genetics, and rare diseases.

28/10/2026

Launched in January 2025, the Wales Rare Disease Research Network brings clinicians, academics, people with lived experience and industry together to enhance patient centred research, improve funding in Wales for Rare Disease research and provide networking and collaboration opportunities.

Vision Statement
"To transform the landscape of rare disease research and care in Wales by building a collaborative, interdisciplinary network that connects researchers, clinicians, patients, and partners. We aim to increase visibility, attract investment, and co-design impactful, patient-centred research that improves lives, informs policy, and positions Wales as a leader in rare disease innovation."

You can now request to become a member of the Wales Rare Disease Research Network - click to submit your request and receive quarterly newsletters as well as research and development updates on exciting projects and opportunities.
https://forms.cloud.microsoft/Pages/ResponsePage.aspx?id=uChWuyjjgkCoVkM8ntyPrltxrF3krtFMq08sFR9MSY9UNzM3NzFaVUVXUjQ5NkE0UEMxWk84SlM0US4u

19/10/2026

🏆 Celebrating success at the Advancing Healthcare Awards Cymru 🏆

We're incredibly proud of our colleagues who represented the All Wales Medical Genomics Service at this year's Advancing Healthcare Awards Cymru.
To be shortlisted across three award categories is a remarkable achievement and recognition of the innovation, leadership and dedication demonstrated across our service.

A special congratulations goes to Caroline Kirwan, Lead Consultant Genetic Counsellor, Charlotte Jaggard, Principal Genetic Counsellor, and the wider AWMGS Clinical team, whose project, ‘Delivering Lean Innovation for Safer, Faster, Fairer Patient Care’, received a 'Highly Commended' recognition in the Developing the AHP and Healthcare Science Professions Workforce category. 👏
The judging panel described the team's work as "impeccable", recognising their commitment to workforce development, continuous improvement and delivering meaningful benefits for both patients and colleagues.

We would also like to congratulate Rhian White, and Donna Duffin and the All Wales Psychiatric Genomics team, whose shortlisted nominations showcased the outstanding work taking place across genomic services in Wales.

Thank you to everyone involved. Whether shortlisted or highly commended, these achievements reflect the passion, expertise and collaborative spirit that drive our service forward every day. ❤️

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16/10/2026

🚨Lean in Action: Applying Industry Learning in Healthcare 🚨

Hosted in partnership with Cwm Taf Morgannwg University Health Board Improvement CTM, SimplyDo, All Wales Medical Genomics Service and British Rototherm Group, the event created a space to reflect on what colleagues had learned from industry, what they had already tested or implemented in NHS settings, and how this learning could be shared more widely across NHS Wales.

Here is what our new Service Improvement Lead, Danielle Allan had to say about the event 🎉

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Mewn partneriaeth â Gwelliant CTM (Bwrdd Iechyd Prifysgol CTM), SimplyDo a British Rototherm, creodd y digwyddiad le i fyfyrio ar yr hyn roedd cydweithwyr wedi’i ddysgu gan y diwydiant, yr hyn roedden nhw eisoes wedi’i brofi neu ei weithredu mewn lleoliadau GIG, a sut y gellid rhannu’r dysgu hwn yn ehangach ledled Cymru.

Dyma beth oedd gan ein Rheolwr Gwella Gwasanaethau newydd, Danielle Allan i’w ddweud am y digwyddiad.

15/10/2026

🏆 Good luck to our Advancing Healthcare Awards Cymru finalists! 🏆
Tonight, colleagues from the All Wales Medical Genomics Service will be heading to the Advancing Healthcare Awards Cymru, having been shortlisted across an incredible three award categories! 🎉

🌟 Award for Outstanding Leadership
Leading change, empowering teams, improving patient care across Wales -
Rhian White, Laboratory Director

🌟 Award for New Ways of Working
Transforming Outcomes through Integrated Psychiatric Genomics in Wales -
Donna Duffin, Principal Genetic Counsellor, and the AWMGS team

🌟 Award for Developing the AHP and Healthcare Science Professions Workforce
Delivering lean innovation for safer, faster, fairer patient care -
Caroline Kirwan, Lead Consultant Genetic Counsellor, Charlotte Jaggard, Principal Genetic Counsellor, and the AWMGS team

Being shortlisted is already a fantastic achievement and a wonderful recognition of the innovation, leadership and dedication happening across our service. ❤️

We’re incredibly proud of everyone involved and wish all our finalists the very best of luck this evening! 🍀🏆

14/10/2026

Autumn is here and so is Wales Gene Park's Virtual Public Genomics Café! This online event provides a chance to hear about some of the amazing genomics work taking place across Wales, with talks covering rare conditions, patient experiences, and cutting-edge research.
Taking place tomorrow (Thursday 15th October) 11:00-12:45 - this event will feature the following:

🧬 Understanding the Genetics of Autism: What Can We Learn from Large-Scale Genetic Studies? - Dr Richard Anney, Department of Psychological Medicine and Clinical Neurosciences, Cardiff University

⭐️ Lived Experience Talk - Hannah Evans, Sounding Board Member, Genomics Partnership Wales

🧬 Wales Digital Rare Care Centre developments - Rhiannon Edwards, Rare Disease Consultant Nurse, All Wales Medical Genomics Service; Genomic and Rare Disease
Specialty Lead, Health and Care Research Wales

⭐️ Future for Rare Update – Genetic Alliance

This promises to be a fantastic session, packed with information and updates from the world of genomics in Wales - we hope to see you there!

To sign up and receive the link to join, visit - https://www.eventbrite.co.uk/e/public-genomics-cafe-tickets-1996638468407?aff=oddtdtcreator

07/10/2026

🎉 Research published! 🎉

Congratulations to our colleagues here at AWMGS whose latest research has been published in the EJHG European Journal of Human Genetics.

As part of Wales' contribution to the UK 100,000 Genomes Project, our teams looked at Welsh patients who took part in the project who remained undiagnosed after their initial genome analysis.

With the development of knowledge, improved analytical methods and new disease gene discoveries, our teams were able to identify additional diagnoses that were not possible at the time of the original analysis - overall, the diagnostic yield was approximately doubled through reanalysis alone,

providing much needed answers for families ❤️

Some of the genomic benefits this study has highlighted:

🧬 The value of continually reviewing genomic data as scientific knowledge evolves, helping more patients and families find answers and supporting better-informed care.

🧬 For AWMGS, the study demonstrates the long term value of genomic data and highlights the important role of ongoing review by clinical scientists and multidisciplinary teams.

🧬 Rather than requiring new samples or repeat sequencing, diagnoses can often be achieved by revisiting data that has already been generated, making the most of previous NHS genomic investment.

🌟 Looking ahead, the findings support embedding routine genomic testing and reanalysis into clinical practice across Wales. As genomic knowledge continues to grow, reanalysis offers a practical way to increase diagnostic rates, provide answers for more families with rare diseases, and ensure Welsh patients continue to benefit from advances in genomic medicine. 🌟

📰 Read the paper: "Reanalysis of genomic data doubles the diagnostic yield for Welsh patients recruited to the UK 100,000 Genomes Project"

🔗 https://lnkd.in/da7WTAAW

Congratulations to all colleagues who contributed to this research and the subsequent paper, great work all around!

05/10/2026

🎥 Take a look at our highlights from last week's Lean in Action: Applying Industry Learning in Healthcare Event at British Rototherm Group.

It was fantastic to see professionals come together to share ideas, explore continuous improvement in practice, and showcase how Lean principles are helping to improve services and outcomes.
A huge thank you to everyone who attended, contributed and made the day such a success - we look forward to sharing more experiences like this with you in the future!

02/10/2026

Come along to Cardiff Edge Business Park tomorrow, Saturday 3 October for a special TSC Support and Information Day, organised by the All-Wales TSC Clinic! If you live in or near Wales, this is the event for you.

The day will bring together everyone in the TSC community: individuals and families affected by TSC, healthcare professionals, support organisations and researchers for a day of information, support and networking.

You can expect to hear talks about life with TSC, updates from researchers about some of the latest TSC discoveries, and the chance to meet others in the TSC community in and around Wales.

Plus, clinicians from the All-Wales TSC Clinic will be on hand throughout the day, giving you the chance to put your questions to them.

There’s plenty of parking on site, plus refreshments will be available throughout the day.

The event is completely free to attend!
For more information and to reserve your free ticket, please follow the link here: https://tuberoussclerosis.beaconforms.com/form/bc8ee5a8?gaid=803847629.1790933094

29/09/2026

LEADERSHIP AT AWMGS
To mark Leadership Day this week, we'd like to recognise the dedication, vision, and commitment of our Senior Leadership Team.
Over recent years, they have played a key role in implementing our Lean working model, helping to foster a culture of continuous improvement across our service.
Through their leadership, coaching, and support, they have empowered teams to identify opportunities, challenge existing ways of working, and develop solutions that make a real difference.

One of the most significant impacts of this approach has been the confidence it has inspired throughout the organisation. By encouraging colleagues to take ownership, embrace accountability, and share their ideas, our leaders have helped create an environment where leadership is not defined by job title alone. Instead, it is demonstrated every day by individuals who step forward, contribute new ideas, and drive positive change.
The success of our Lean journey has been a collective effort, but the influence of our Senior Leadership Team in nurturing talent, developing confidence, and enabling others to lead has been instrumental.

Thank you for your continued commitment to supporting our people and creating a culture where everyone feels empowered to make a difference.

We also want to take this chance to recognise all of our leaders and managers in the service who have empowered their own teams to take ownership and lead from the front in all aspects of their roles.

18/09/2026

This week we're highlighting Jeans for Genes, a charity campaign dedicated to supporting children and families living with genetic conditions.

Genetic conditions affect millions of people worldwide, and awareness campaigns play an important role in improving understanding, supporting affected families, and funding vital services and research.

To make a donation, please visit:

🔗 https://www.jeansforgenes.org/pay-in-your-money

Address

Wales Genomic Health Centre, Cardiff Edge Business Park
Cardiff
CF147YU

Telephone

+442921834000

Website

https://medicalgenomicswales.co.uk/index.php/en/, https://linktr.ee/AWMGS

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