Genetic Alliance UK Launches Good Diagnosis Report

To coincide with Rare Disease Day 2022, Genetic Alliance UK has launched a new report, ‘Good Diagnosis: Improving the experiences of diagnosis for people living with rare conditions’.

Read the full report here.


The experience of diagnosis is, at its essence, a very personal and individual experience. There is no one right way to pursue or receive a diagnosis, what works for one person may not be appropriate for another. However, our report identified some guiding principles.


Our findings show that central to a good diagnosis are healthcare professionals who recognise and are aware of rare conditions. Of course no healthcare professional can be aware of all rare conditions individually, but ignorance of rare conditions generally leads to slower referral, slower diagnosis, misdiagnoses and slower access to appropriate specialised care.

We must urgently take steps to raise awareness of rare conditions among healthcare professionals and to provide them with the information and resources required to support their patients.


Having insufficient information to meet their medical and non-medical needs can contribute to feelings of isolation, poor management of their condition or uninformed decision making. Too often people are left to research their own symptoms, or diagnosis, and this can lead to people finding unreliable, potentially alarming information which they have to digest without the support of a person who understands the condition.

Throughout the diagnosis journey, individuals and families need to be made aware of available reliable sources of information that they may want to use to research their condition or access support and information.


People living with rare conditions describe feeling frustrated at poor communication about their care and the ‘battle’ and ‘struggle’ to get referred for tests, or for assessment at specialist centres. Even once a diagnosis is made, it may not be the end of the struggle. When an individual has a diagnosis of a rare condition that their principal healthcare professional does not know a lot about, they may continue to experience delays in being started on the correct care or treatment pathway, they may experience delays in accessing appropriate services, medicines or research.

Having to fight for the right care or treatment can be extremely challenging, particularly when unwell. The fight can be harder when a person is unsure about what rights they have, or who can support them. It is vital that people with rare conditions are aware of what to expect from the diagnosis journey, aware of their rights and how they can challenge decisions.

The Good Diagnosis report recommends that a Rare Conditions Good Diagnosis Patient Rights Charter should be developed to clearly communicate the standard of care people with rare conditions should expect to receive.

Genetic Alliance UK will undertake a new project in early 2022 to develop a Good Diagnosis Patient Rights Charter, and we want to hear your views on what it should look like.

Interested in getting involved? Email  


Cancer patient benefits after routine clinical genomic data is used for research

A cancer patient in Wales, who had not reacted well to the standard cancer therapy, was facing a situation of having very limited treatment options available to them. Analysis of their cancer’s genomic data provided a new avenue of treatment.  Just before Christmas 2021, they were able to be recruited to a clinical trial for a new targeted therapy. Their latest imaging tests have shown that the cancer has shrunk in response to this new trial treatment. This is an excellent example of personalised treatment and highlights the value of genomics in improving care for cancer patients.

In 2019 the patient had received cancer surgery through the NHS in Wales after being diagnosed with colorectal cancer. They had gone to their GP with symptoms (of bleeding from the rectum), who referred them for endoscopy which was used to confirm the diagnosis. They received chemotherapy treatment but experienced an adverse reaction to the drug, meaning they had to stop receiving the treatment. Unfortunately, the patient had a relapse and the cancer spread to their lungs. A different chemotherapy treatment was unable to stop the disease progressing, leaving very few treatment options available to them.

At the point Wales Gene Park, working with the clinical genomics diagnostic lab in Wales (All Wales Medical Genomics Service) and the NHS clinical oncology team, analysed stored genomic data to identify patients potentially eligible to participate in a clinical trial for a new targeted cancer therapy.

The clinical trial is testing a new drug that specifically targets a rare genetic variant present in less than 5% of all colorectal cancers. Analysis of the patient’s cancer genomic data identified the required rare gene variant that meant they could take part in the trial. They started treatment as part of the trial, and recent check-ups have shown that the treatment appears to be working at these early stages.

This case demonstrates how re-analysis of clinical genomic data can lead to the identification of rare genetic variants which can sometimes enable patients to join clinical trials. In doing so, this allows the possibility of providing more personalised treatments that have the potential to improve outcomes for cancer patients.


Tremolo – a podcast drama by Lisa Parry. Available now!

If you knew you could have a serious medical condition and could find out, would you? How could this affect your friends and family?

These questions and more are explored through Harri’s story, an 18-year-old who’s just finished his exams and ready to follow his dreams. His world is turned upside down when his mother is diagnosed with early onset familial Alzheimer’s disease, a condition Harri and his sister each have a 50 per cent chance of inheriting.

Should he take a test to find out if he has it too? Tremolo offers listeners a real insight, exploring the impact of Harri’s choice on his relationships and dreams.

Tremolo is aimed primarily at students aged 16+, but also available to the wider public. It is available in both English and Welsh from March 3rd 2022 to listen and download via platforms including Spotify, Apple Podcasts, AM & on Theatr Genedlaethol’s website.

You can also link to it on Spotify below:

The podcast series will also feature episodes from the drama’s creative team discussing the themes of the play, as well as contributions from genetics specialists.

Tremolo is an Illumine Theatre production in partnership with Wales Gene Park and Theatr Genedlaethol Cymru, supported by the Genetics Society.

Starring Gareth Elis. Written by Lisa Parry, directed by Zoë Waterman, harp music composed and played by Eira Lynn Jones, sound design and editing by Rhys Young, assistant director Branwen Davies, additional music by Yws Gwynedd. Tremolo was recorded at Hoot Studios, Cardiff.

Education Pack

The drama is also accompanied by an education pack for schools & colleges aimed at year 12/13 students. The pack contains:

Creative content including

  • A synopsis of the drama
  • Interviews with the creative team
  • Creative activities

Scientific content including

  • Information Toolkit
  • Careers Support
  • Scientific Activities
  • Points for reflection
  • Help and support

Teachers/educators can get a copy of the pack by emailing

Rare Disease Day 2022: Mum of son affected by rare disease highlights the importance of ongoing research

To mark Rare Disease Day 2022, Health and Care Research Wales is highlighting the story of Marie James, mum of 35-year-old Trystan James who is affected by a rare disease where tumours develop in different parts of the body. Marie is championing research into rare diseases to enrich and improve her son’s life.

Marie and her husband Perry from Cross Hands, Carmarthenshire, are Trystan’s full-time carers. He was diagnosed with the rare disease tuberous sclerosis (TS) at just eight months after he started having mild but frequent seizures, which failed to respond to medication for epilepsy. Since then, Marie and her family have been involved in as much research as possible from sleep trials, blood tests to gene identification and even working with researchers to help develop clinical trials.

To mark Rare Disease Day (28 February) Marie wants to raise awareness of the research by Wales Gene Park and Health and Care Research Wales who fund and help deliver some this life-changing research which has transformed their lives.

Marie, 62, said: “We were really fortunate from the outset to have access to clinicians who combined research with their clinical work. When Trystan was diagnosed there was very little information on TS and no treatments. We were told to take him home, love him, there’s nothing else you can do. It was pretty bleak. He was the same baby we had known and loved from day one but our hopes and dreams for him had changed irreversibly.”

A rare disease affects fewer than 1 in 2000 people with One hundred and seventy-five thousand people in Wales affected at some point in their lives. There are over 6,000 rare diseases, more than 70% of which are genetic in origin.

Marie continued: “Like many others with TS, Trystan has multiple growths on the brain which cause epilepsy, autism and severe learning difficulties. He’s developed hypertension, osteoporosis, gastric and cardiac problems. He also has kidney tumours which are significant – the one of his left kidney measures 26x17x10cm, the size of a rugby ball, and probably causes him considerable pain and discomfort.

“Without new treatments discovered through research, Trystan wouldn’t be with us now – the rate of his kidney growth was alarming, and nothing could be done for him surgically.”

Research into TS initially looked at identifying the genes that caused the condition, before progressing to blood tests to see where there was family link.

Wales Gene Park, funded by Health and Care Research Wales, supports rare disease research in Wales. Research being undertaken by the Inherited Tumour Syndromes Research Group as part of Wales Gene Park (Cardiff University Division of Cancer and Genetics, School of Medicine) is leading to a better understanding of the underlying genetic causes of the condition.

Professor Julian Sampson, who until recently oversaw Trystan’s care, is Chief Investigator on a study looking into Genes and the Kidney in Tuberous Sclerosis (TS), which aims to find out how the kidneys of people with TS are affected as they grow older. Although Trystan isn’t eligible to take part in this study, which is aimed at children, the findings could benefit others like him growing up with the condition.

Wales Gene Park Research Coordinator, Laura Butlin, oversees the delivery of this research study and described what is involved: “Children with TS can take part in the study which involves their carers completing a health questionnaire on their behalf and allowing researchers to review their medical notes. Researchers may also ask for a blood sample from the child, taken by their GP or at a local hospital, to look at the child’s genetic change in more detail or check kidney function if this has not been done recently.

“By doing this research we’re expanding our knowledge to help patients and their families going forward. We need to increase research into rare diseases and look at more treatments rather than managing the conditions with medication and then, one day, hopefully cure some of these diseases.

“By being part of research you’re helping in the future of the disease and that’s what we’re trying to do – improve the lives of people going forward.”

Help shaping research

As well as supporting Trystan to take part in clinical trials, over the years Marie has been involved with the Wales Gene Park, giving talks to healthcare students and the public about her family’s experience of TS and is a patient representative on the group which developed the Welsh Implementation Plan for Rare Diseases.

She continued: “If you’re involved, you’re empowered, informed and have the latest knowledge. Over the years, research has given us something to put our energy into, it’s been something positive to do and focus on.

“We refused to think nothing could be done. We’re lucky that in Wales and the UK research has moved on at a pace. So much has been learnt over the last 30 years and Cardiff researchers have been central to developments, we’ve been so lucky to have had research opportunities on our doorstep. I’m a firm believer that everyone with a rare disorder should have the chance to get involved in research as part of their care plan.”

Lifesaving research

“Of course, research doesn’t just investigate treatments and drugs, it also looks at best practices, including risk reducing measures and guidelines for managing for seizures. Trystan has a baseline of 8 seizures a month but in January he had 30, Trystan’s risk of sudden unexpected death in epilepsy (SUDEP) means we have strict protocols to follow for his care.

“Research has shown that SUDEP most likely occurs in the hour after seizure when the body and heart rate doesn’t return to normal rhythm. This means that his dad or I are always by his side, monitoring him throughout the night – which has kept him as safe as possible.”

Where would we be without research?

“Without rare disease research we’d be lost, isolated, ill-informed, struggling. And Trystan wouldn’t be here. That’s the bottom line – Trystan’s life would have ended years ago without research. And where would we be then? I can’t imagine life without him, our lives are entwined. I’m so proud and privileged to be his mum. He wouldn’t be here, and I don’t know if I would be, I certainly wouldn’t be the person I am now. We are hugely thankful to the research community in Wales and their dedication to TS.”

For more information about the Health and Care Research Wales public involvement community visit here or to find clinical research trials in your area search here.

Young People’s Genomics Café, 3rd March 2022, 6-7.30pm – book now!

Are you a young person interested in finding out more about genomics and health, or affected by a rare or genetic condition? Join us!

These events are aimed at those aged 16 to 25. March’s café will feature relaxed talks including:

  • A Genomic Fairy Tale: how is genomics represented in the media? Rhys Vaughan, Wales Gene Park
  • Writing science: how genetics and genomics can and should shape drama Lisa Parry, Illumine Theatre
  • A Musical Explanation of Epigenetics Dr Karen Reed, Wales Gene Park

All welcome – FREE to attend. Register for Virtual Café:

Don’t forget to bring your cuppa!

For further information:

Rare Disease Day Welsh Reception 22nd Feb 2022, 6 to 8pm – book now!

Genetic Alliance UK would like to invite you to a reception on 22 February, 6-8pm to mark Rare Disease Day 2022.

Rare Disease Day is an annual international event raising awareness on the needs of people living with conditions. There are over 6000 rare diseases affecting 175 000 people across Wales. Collectively, rare diseases are not rare.

The reception, hosted by Russel George MS, will provide the opportunity to meet with people affected by rare conditions as well as a wide range of stakeholders with an interest in the area including clinicians, health professionals, patient organisation representatives, researchers and industry.

Following the release of the UK Rare Diseases Framework, we await the imminent launch of the Wales Action Plan for Rare Diseases. We will hear from Eluned Morgan, Minister for Health and Social Services and Dr Graham Shortland on the progress of the Action Plan.

Genetic Alliance UK, the national charity for people affected by rare conditions, will launch a report on the experiences of diagnosis for people affected by rare conditions. This report presents recommendations that we hope the four nations will take into consideration when implementing their Action Plans.

We will be using a new platform for the event. The Remo platform will facilitate networking, letting you get some of the benefits of an in-person reception. As part of the networking session, we would like to offer you a “table” where members of your constituency may come and speak to you about rare conditions.

We hope that you will attend the reception to show your support for people affected by rare conditions.

Register for the event here:

For further information, please contact

Virtual Schools’ Genetics & Genomics Roadshow Spring 2022 – book now!

Now in its 12th year, Wales Gene Park’s Schools’ Genetics & Genomics Roadshow has gone virtual for the first time!

 What is the Roadshow?

  • The Roadshow offers free talks to your school or college’s year 12 & 13 biology/science students
  • During the live roadshow sessions expert speakers (usually two per event) will speak on topics related to DNA, genetics & genomics, presenting cutting-edge advances in these areas and discussing careers. Each talk is around 20 minutes with time for questions – the roadshow lasts up to an hour (we will try our best to tailor events to any specific needs/timings you may have)
  • If you have any particular subjects you would like to hear about, please let us know. We will try and provide talks on preferred topics, however choices cannot be guaranteed as they will depend on speaker availability
  • Events will take place up to the end of March 2022 

To register your interest in having a roadshow & receive a booking form email

Register now: Welsh Parliament Cross-Party Group meeting on Rare, Genetic and Undiagnosed Conditions 26th Jan 2022

Attend the Welsh Parliament Cross Party Group meeting on Rare, Genetic and Undiagnosed Conditions on 26 January, 11.00-12.30 via Zoom. The topic of discussion will be on getting a faster diagnosis and care coordination for rare conditions.

Register to attend by emailing

  • Speakers:
    Russell George MS, Chair of the Wales CPG on Rare, Genetic and Undiagnosed Conditions
  • Martin – Giving his experience of diagnosis as a parent of a child with a rare condition
  • Amy Simpson – Representative from the CONCORD study to draw on both diagnosis and care coordination
  • Michelle Conway – To discuss the survey conducted by Rare Disease Nurse Network on care coordination
  • Dr Graham Shortland– lead on the SWAN clinic project discussing plans for the SWAN clinics and how they work


Unique You Project – Public Involvement Opportunity!

Are you a member of the cancer community? Do you feel the science of cancer could be better explained? Can you tell us how improved knowledge could help you? Then get involved in the Unique You project.

Cancer researchers at Cardiff University need your help to create tools to be used with the cancer community at public events. We want to simplify the science and help you understand cancer, genomics and personalised medicine. We need to hear what YOU would like to know more about. Could you share your ideas at one of our workshops?


Expenses are available for your time at £20/hour (up to £40). For more information visit our Unique You project page

If you have any queries or need to contact the project team, please e-mail us on