Genomics Partnership Wales

12/03/2026

On Wednesday 10 March, NHS Wales colleagues, partner organisations and industry stakeholders gathered at the Senedd in Cardiff Bay to celebrate the launch of QuicDNA Max.

Sponsored by Russell George MS, the event marked an important milestone as the QuicDNA Max programme expands across additional solid tumour types. The initiative aims to support more timely and targeted treatment decisions and help improve cancer outcomes for patients across Wales.

The expansion follows the success of the original QuicDNA initiative, which explored the use of liquid biopsy in the lung cancer diagnostic pathway. The study demonstrated how liquid biopsy can speed up genomic diagnosis and improve access to personalised treatments. As a result, liquid biopsy has now been commissioned into the standard care diagnostic pathway for patients with advanced-stage lung cancer across Wales. QuicDNA Max will build on this success by scaling the technology across multiple cancer diagnostic pathways to support faster treatment decisions and more personalised care nationwide.

The event was opened by sponsor Russell George MS and chaired by QuicDNA project leads Dr Magda Meissner and Sian Morgan. It featured a presentation from clinicians directly involved in the programme followed by a panel discussion that showcased the collaborative nature of this initiative. The panel brought together NHS oncologists, industry partners and patient advocate Craig Maxwell and his wife Tracey Maxwell to share perspectives on the impact of innovation in cancer care.

The evening concluded with closing remarks from Carys Thomas, Head of Research and Development Policy for Science, Research and Evidence at the Welsh Government, before attendees continued discussions during a networking reception.

Wales is leading the way in evaluating liquid biopsy cancer genomics, and QuicDNA Max is a powerful example of how cutting-edge innovation can translate into real-world impact. Liquid biopsies offer faster genomic results, fewer invasive procedures and greater equity of access. By scaling this approach nationally, there is an opportunity to improve care for thousands of people and strengthen cancer services for the future.

All Wales Medical Genomics Service Cardiff and Vale University Health Board

10/03/2026

To mark Rare Disease Day 2026, members of our Patient and Public Sounding Board have shared their own experience of living with rare disease.

Elizabeth was born in the 1960s with two dislocated hips, which remained undetected until she learned to walk. As a result, she grew up dealing with numerous medical issues and endured multiple surgeries to address her symptoms.
It wasn’t until her forties when she had to undergo abdominal surgery that doctors began to suspect she may be living with a connective tissue disease. Elizabeth was subsequently diagnosed with a rare form of Ehlers Danlos Syndrome, and the assortment of symptoms she had experienced throughout her life finally began to make sense. Yet, Elizabeth felt like her diagnosis didn’t really lead to any real improvement in her day-to-day experience.

“Whilst a diagnosis has clarified why I have certain symptoms, this has not translated into better management, and I still struggle with multiple symptoms and daily life.”

Elizabeth now has a son who also has Ehlers Danlos Syndrome, alongside a second rare condition known as Beckwith Wiedemann Syndrome and a third genetic syndrome caused by the presence of an additional chromosome. The complexity of her son’s conditions has meant that accessing appropriate treatment has proved difficult, with the need for involvement from multiple clinicians and the absence of a clearly defined treatment plan.

“In a sense it made the rare nature of his condition even rarer, and we could not find any experts who had managed a child with both these syndromes.”

Elizabeth emphasises the importance of the diagnosis of a rare disease like hers and her son’s leading to an agreed care pathway being identified, the effective treatment of the associated symptoms and ultimately, an improved quality of life for the patient, particularly when an individual is living with multiple conditions.

“It seems like the more diseases you have the rarer you become and the less well managed your symptoms become. “

Although she can access helpful information via support groups, Elizabeth says that this often reaches these groups before it does the clinicians, which can lead to lack of an up to date understanding and challenges when discussing care. She also speaks on how this can prevent this knowledge being used to inform clinical practice.

“There is lots of research happening, but this is not reaching clinicians or being incorporated appropriately into clinical guidelines with relevant bodies”

In addition, she highlights that a person with a rare disease may present with an unrelated illness however, the symptoms may be attributed to their pre-existing diagnosis.

“This is extremely distressing and frustrating and can contribute to mental ill-health alongside all the daily physical challenges”

On raising awareness of rare diseases, Elizabeth would like to see these conditions be more routinely considered when an individual presents with certain symptoms, as opposed to them being dismissed because of their ‘rareness’.

“I have frequently been told that whatever condition I am suffering with is rare, and so it is very unlikely that I would have it.”

Elizabeth would like to see the exploration of rare disease become an integral part of care from the very first appointment, as opposed to something which is only considered only once all other possibilities have been explored.

“There needs to be a shift in thinking that acknowledges that rare diseases are possible”

She also emphasises the importance of acknowledging the collective existence of rare disease and looking at the full picture.

“When you add the numbers of people suffering with a rare disease together, we are not rare at all.”

For Elizabeth, recognising rare diseases earlier, improving coordination between specialists and ensuring research reaches community care could make a meaningful difference to families like hers. Greater awareness and a more joined-up approach would not only support better outcomes, but help people living with rare conditions feel seen, heard and appropriately supported.

Learn more about Rare Disease Day: https://orlo.uk/Xhbys

Our Patient and Public Sounding Board will shortly be opening for applications, to find out more and register your interest visit: https://orlo.uk/UNmcf

03/03/2026

To mark Rare Disease Day 2026, members of our Patient and Public Sounding Board have shared their own experience of living with rare disease.

Liz was diagnosed with scleroderma in recent years, and before her diagnosis enjoyed an active life of socialising, hosting parties and exercising three times a week. Life looks very different for Liz now, as she manages her symptoms daily.

Liz emphasises the importance of GPs and other practitioners understanding rare disease and how this would aid in earlier diagnosis. She also stresses the significance of community, both online and offline, where those living with rare disease can share their experience and meet others going through similar.

Due to a lack of anything of its type in Wales being available, Liz was asked to set up Wales Wide Scleroderma Support, a network which facilitates connection between those living with the condition and puts them in touch with other networks where there may be a cross over in individuals’ symptoms.

Watch Liz’s full story here: https://orlo.uk/mOeuf

Wales Wide Scleroderma Support

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28/02/2026

To mark Rare Disease Day 2026, members of our Patient and Public Sounding Board have shared their own experience of living with rare disease.

This is in the hope that others will feel more empowered to tell their own story and to persevere in gaining a diagnosis and the appropriate support.

Rare Disease Day is the globally coordinated movement working towards equity in social opportunity, healthcare, and access to diagnosis and treatment for people living with a rare disease.

Georgina has a total of 26 medical conditions.

Some of them, for example, hypermobile Ehlers Danlos Syndrome and Crohn’s disease are inherited, which led to her having a strong interest in genetics and wanting to learn more about the impact they have on our health.

Enjoy the videos and music that you love, upload original content and share it all with friends, family and the world on YouTube.

27/02/2026

Genomics Partnership Wales were thrilled to attend the Rare Disease Day Reception earlier this week, which took place at the Norwegian Church in Cardiff Bay.

Organised by Genetic Alliance UK , the event brings together individuals from across the rare disease community, including patients, policymakers, professionals and support groups.

Rare Disease Day, which takes place on Saturday 28th February this year, is a globally organised movement that shines a light on the 300 million people living with rare disease all over the world.

Wales Gene Park

12/02/2026

A major £2.52 million investment in a Welsh-led cancer diagnosis programme is being showcased by BBC Wales News , highlighting groundbreaking research that could change how cancers are detected and treated.

The study, supported by Welsh Government , the UK Office for Life Sciences and other partners, will accelerate the use of cutting-edge liquid biopsy technology that analyses cancer DNA from a blood sample, supporting faster and more personalised treatment decisions.

Follow the links in the comments to hear what cancer patients Craig Maxwell and Patricia Grant think about this life changing study and find out more about QuicDNA Max from chief investigator, Dr Magda Meissner.

30/01/2026

We are excited to announce the launch of the Genomics Research Strategy for Wales.

Genomics Partnership Wales, working in collaboration with Health and Care Research Wales and partners across healthcare, academia and policy, is proud to launch ‘Research Matters: A Strategic Research Plan for Genomics in Wales’.

Wales already has strong genomics expertise in cancer, rare disease, mental health, dementia and pathogen genomics, alongside strengths in functional genomics and pharmacogenomics. The strategy builds on this foundation by growing infrastructure and digital systems, developing a skilled and sustainable workforce, supporting translational research, and ensuring genomics research is ethical, inclusive and patient centred.

To oversee its implementation, we have appointed a National Genomics Research Lead. Over the next five years, they will work with national and international partners to build a visible, collaborative genomics research community, strengthen leadership across NHS, academia and industry, and create trusted data and consent frameworks.

This strategy aims to produce real benefits for patients and the wider population by setting out a bold vision to strengthen and expand genomics research, helping to deliver earlier diagnoses, more targeted treatments and improved prevention for people across Wales.

Find out more: https://ow.ly/Y2VH50Y5uxQ

29/01/2026

We had a fantastic time at the Festival of Genomics and Biodata 2026, thank you to everyone who visited our stand!

If you attended but didn’t get a chance to share your details with our team and you’re still looking to make an enquiry, please complete this form and someone will be in touch: https://forms.office.com/Pages/ShareFormPage.aspx?id=uChWuyjjgkCoVkM8ntyPrlGXH1ClagJFvTjz1R3YicVUNlJOWVUxNzFVWkI2SzlMUkJYSzJYRFhTUS4u&sharetoken=AGfVSXM9ADJDdvHkTeMl

29/01/2026

To close out our schedule, Rhys Vaughan, Genomics Consent Manager for Wales Gene Park will be exploring the development of a national consent mechanism for healthcare data acquisition. Rhys will be on the Biodata Stage at 3:15pm.

29/01/2026

There are more exciting talks being held by some of our partners again today, starting with Dr Sian Morgan Head of Innovation Programmes for the All Wales Medical Genomics Laboratory, who will be discussing the role of liquid biopsy within NHS cancer diagnostic pathways, on the Cancer Diagnostics stage at 12:30pm.

29/01/2026

It’s day two of the Festival of Genomics and biodata!

We are looking forward to another busy and exciting day continuing to share insights into genomics in Wales and what the future of health care looks like with genomics in mind.

Come and see us at stand 164 if you are attending the event today

Wales Gene Park Public Health Wales