Genomics Policy

April is bowel cancer awareness month. To read real life stories from people affected by inherited forms of bowel cancer, go to the Telling Stories website. For further information on bowel cancer and bowel cancer awareness month, go to the bowel cancer UK website.

An article in Science Translational Medicine this month byRoberts et. al.  suggesting that  predictive personal genome sequencing has little value has caused a bit of a ‘hoo-ha’. [See the Nature News Blog article http://t.co/UZgnmsVx for more information]. Whilst the findings are not new the concern is how the study’s outcomes are being portrayed in the media (See New York Times and  Times Healthland articles) and the general harm this might do to the public’s perception of genomic science.

What is a rare disease?

• A “rare disease” is any condition affecting fewer than 5 in 10,000 of the general population.
• There are over 6,000 known rare diseases.
• 1 in 17 people will be affected by a rare disease at some point in their lives. This amounts to 175,000 people in Wales. Collectively, rare diseases are not rare!
• The term “disease” covers all conditions including cancers, syndromes etc.

Why a plan for rare diseases is needed:

Due to the specific issues relating to the rarity of these diseases, broad strategies e.g. for long term conditions, cannot adequately shape the provision of health and social services to meet the needs of patients with rare diseases. A failure to adopt a strategic approach to rare diseases has meant that services to support people with rare diseases remain patchy and poorly integrated and families with rare diseases often struggle to access the help and support they need.

It has also led to an inefficient use of NHS resources. Many patients with rare disease already utilise both health and social services but have difficulties accessing the high quality care and services they need. Due to the rarity of many conditions, health professionals often have little or no experience in supporting patients in order to find optimum care pathways or where to turn for information themselves.

Although rare diseases are characterised by a large number and broad diversity of disorders and symptoms nearly all patients face common problems including delays in diagnosis/misdiagnosis, lack of information about the condition, lack of scientific knowledge about the condition, no effective treatment for the condition, significant social consequence, inequities and difficulties in access to treatment and care.

In June 2009, the UK government adopted the Council of the European Union’s Recommendation on an action in the field of rare diseases. This stated that each EU member state should have a plan or strategy in place to improve services and facilitate research into rare diseases. All four of the UK’s health departments have been working together to develop a UK plan for rare diseases. The Welsh Government will be collating the responses to the consultation received in Wales and then feeding back to the other health departments in the UK to draw up the final plan.

To find out more about rare diseases go to the Rare Disease UK website or to read or respond to the rare disease consultation document go to the Welsh Government website

Members of the Glamorgan-based Telling Stories Understanding Real Life Genetics project team attended the Chief Nursing Officer for Wales 2012 Showcase Conference yesterday at the SWALEC stadium in Cardiff. The theme of the conference was Strictly Patients – Listening to Improve; Celebrating Excellence in-keeping with which, Telling Stories was invited to present a collection of video clips and quotes from storytellers who have participated in the project. The team also had an exhibition stand displaying information about the Telling Stories project and the work of the University’s Genomics Policy Unit.

Go to the Telling Stories website, to find out more. 

On behalf of Rhian Morgan

Did you know that a disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000?

February 29th, 2012 is Rare Disease Day. An international event co-ordinated by Eurodis and bringing together patient organisations including Genetic Alliance UK, this fifth annual event is hoping to raise awareness globally through activities converging around the slogan “Rare but strong together”. In the UK, Rare Disease UK will be continuing its campaign  to get each of the four Health Departments to develop a strategy for rare diseases to ensure that patients and families living with these conditions have equitable access to effective services.

Some more  facts (taken from the websites of the various participating organisations) that I hope will make you stop and think are:

• With over 6000 rare diseases, as many as 30 million people in the EU may be affected by a rare condition…(and this doesn’t include all of the family members, friends and carers also touched by these conditions).
• Characterised by a range of signs and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease, rare diseases are often misdiagnosis or not diagnosed at all.
• 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
• 1 in 17 people will be affected by a rare disease at some point in their life….This amounts to approximately 3.5 million people in the UK.
• 75% of rare diseases affect children and 30% of rare disease patients will die before their 5th birthday.

…Sharing their experiences, many individuals have uploaded images and videos to help us understand a little of the realities of living with a rare condition.

The Glamorgan-based Telling Stories Understanding Real Life Genetics project is delighted to report that the 100th story is being published on its website today! Launched in 2007, the project, led by Professor Maggie Kirk (of the Genomics Policy Unit, University of Glamorgan and lead Professional Specialist, Nursing Professions, at the NHS National Genetics Education & Development Centre), was developed to help health professionals understand the impact genetics has on people’s lives by using real-life stories from individuals with, or at risk of, a genetic condition, their family members, carers and healthcare professionals.

The freely-available stories cover a range of genetic conditions from cystic fibrosis and Down syndrome to diabetes and breast cancer and are linked to educational frameworks for nurses, midwives, GPs and medical students and include a toolkit of learning activities.

The 100th story describes Siobhan’s experiences of living with two complex genetic conditions, type 2-diabetes and the inflammatory condition ankylosing spondylitis, which are caused by a combination of genetic and environmental factors. On her experience of being a storyteller, Siobhan says:
“I was really pleased to be able to tell my story; it’s a good way to raise awareness of people like me trying to live a full life while dealing with complex problems (in my case ankylosing spondylitis and type-two diabetes). Too often I find that health professionals only see/deal with the part of you that interests them and not a whole person. The Telling Stories resource is a good way for us ordinary people to be ourselves and hopefully that is what the health professionals will see as well as understanding more about genetics”

The storytellers, who represent a variety of ages and backgrounds, are at the heart of Telling Stories, and the project team is passionate about working in partnership with them to ensure that their voices are heard. Paula, whose son has a rare chromosomal condition, says “I am glad I have told my story and I really hope people will understand how hard it can be when faced with the news your child has a disability.”

Geraint died suddenly at the age of 24 from an inherited heart condition (Brugada syndrome). On telling their family’s story, Geraint’s mother said “I feel the more people that read about experiences such as mine, the more understanding and help is likely to become available… this is what I set out to do, tell the people who are able to help people such as myself.”

Since January 2009, the website has received almost 41,000 visits and more than 193,000 page views from users in over 150 countries and was ‘Best Use of New Media’ winner at the 2009 Association of Healthcare Communicators awards. Dr Rhian Morgan, Telling Stories Project Officer, said “I am very pleased that we are now publishing the 100th story. Working with the storytellers is inspiring and their stories are powerful, engaging and memorable. Hearing their experiences is key in helping to improve our understanding of the relevance of genetics to healthcare practice and the impact genetic conditions can have on those affected. The feedback we receive from the storytellers who participate in the project, and from those using the website, is overwhelmingly positive. That the 100th story is about to be published is a testimony to the commitment of the storytellers and all those involved with the project”.

The Telling Stories project team represents a collaborative effort between the Genomics Policy Unit at the University of Glamorgan, Genetic Alliance UK, Plymouth University and the NHS National Genetics Education and Development Centre, which hosts the website.

Professor Kirk said “I’m delighted that Telling Stories is now celebrating its 100th story. As a health professional educator, I find the site to be an enormously valuable resource and the stories never fail to stimulate discussion amongst students. This is so important when we are trying to get health professionals to understand how genetics impacts on the lives of individuals and families.

The resource has been developed by working in partnership with storytellers. Siobhan has worked closely with Project Officer Dr Rhian Morgan to help promote the resource for our 100th story celebration. Of course, all of our storytellers are important to us and we do regard them very much as the ‘senior partners’ – we certainly couldn’t do it without them!”

If you are interested in finding our more about the project or participating as a storyteller, you can contact the team by email: tellingstories@glam.ac.uk or go to the Telling Stories website.

Last week was a busy week for the Telling Stories Understanding Real Life Genetics project team with exhibition stands and poster presentations at two Cardiff conferences. The first conference, part of the ESRC festival of social science, was ‘Practising Community-Engaged Research in Wales’ and was held at the impressive venue of the Wales Millennium Centre in Cardiff Bay. The conference included presentations on aspects of community-based research such as benefits and challenges, methodologies and emotional dimensions. The focus of the Telling Stories virtual poster presentation was on engaging and working in partnership with storytellers.

The second of the conferences was the Children and Young People’s Research Network annual conference held at the SWALEC stadium. Presentation topics included improving medicines for children, the challenges of running a paediatric trial and strengthening child health research. For this conference, the Telling Stories team presented a poster entitled Growing up with genetics – young people’s experiences of living with a genetic condition.

The Telling Stories exhibition stands attracted delegates interested in storytelling, engaging with communities, genetic conditions and aspects of child health.

To find out more about the Telling Stories project, visit the Telling Stories website.