Genomics Policy

Maggie Kirk, Rachel Iredale and Rhian Morgan from the Genomics Policy Unit (GPU) here at the University of South Wales were pleased to attend an event held at the Royal Welsh College of Music and Drama on Monday 15th April 2013 to mark the 10th Anniversary of the Wales Gene Park (WGP).
The event comprised a mini symposium, celebrating the work and achievements of the WGP, followed by a dinner attended by the First Minister of Wales the Rt. Hon Carwyn Jones AM and the newly appointed Minister for Health and Social Services, Mark Drakeford AM, as well as many of those involved with the WGP over the last ten years, which was held in the lovely setting of the glass-walled hall overlooking Bute Park.
Talks were given by those involved with the work of the WGP, and covered a range of subjects from the genetics of cancer and Alzheimer’s disease, to public engagement with schools and communities. Dr Rachel Iredale of the GPU gave a presentation entitled ‘The National DNA database on trial’, a collaborative project between the Genomics Policy Unit, Wales Gene Park and Techniquest, details of which can be found on the GPU web pages.The banner artwork, produced by juvenile prisoners aged 15 -17 who participated in the project, was displayed during the event and can be seen in the photograph.

To find out more about the work and interests of the GPU, go to our web pages  or follow us on Twitter @GlamorganGPU.

Genomics Policy Unit members Emma Tonkin and Rhian Morgan had the pleasure of visiting Abergavenny’s University of the Third Age (U3A) group on Friday to give a talk on genomic healthcare. The presentation, entitled ‘What genomic healthcare can offer you and your family’, covered topics such as non-invasive genetic tests, gene therapy, next generation sequencing, direct-to-consumer testing and stratified medicine. Other non-health related areas in which genomics is continuing to have a major impact were also discussed. These included food security, forensics, biodiversity and biofuels.

We were made to feel very welcome by the members of Abergavenny U3A, who were extremely interested in the topic of genomics and engaged in a very interesting question and answer session following the presentation and plenty of further discussion over coffee afterwards.

U3As are self-help, self-managed lifelong learning co-operatives for older people no longer in full time work, providing opportunities for their members to share learning experiences in a wide range of interest groups and to pursue learning not for qualifications, but for fun.

To find out more about the work of the Genomics Policy Unit, visit our webpage.

 BBC health news reports today that women in England and Wales with a strong family history of breast cancer could be offered medication on the NHS to try to prevent the disease. The National Institute of Health and Clinical Excellence have launched a consultation on whether tamoxifen could be given for up to five years. If approved later this year, the draft guidelines would be the first of their kind in the UK. NICE says not enough is being done to help healthy but high-risk women, who include women with a sister and a mother or aunt diagnosed with breast cancer before the age of 50. Taking tamoxifen for five years could cut their own risk of the disease.

Breast cancer is the most common cancer in the UK, with about 50,000 women and 400 men diagnosed with the condition each year. Most cases occur by chance and with increasing age. But having a family history of breast or ovarian cancer can significantly increase the risk of developing breast cancer and at a younger age, although most women with a relative with breast cancer are not at a substantially increased risk themselves. NICE says under 1% of women over 30 fall into the high-risk category.

The new draft guidelines for England and Wales, which would update recommendations made by NICE in 2006, apply to these women and focus on areas of care where new evidence has been published, which includes using tamoxifen as a preventative treatment. Based on research findings, expert estimate that for every 1,000 women given tamoxifen, there would be 20 fewer breast cancers. But this would have to be balanced against the risks associated with taking the drug, such as blood clots. Currently, both tamoxifen and raloxifene, a similar breast cancer drug, are not licensed for this indication in the UK, although they are in some other countries.

Final NICE guidance is expected this summer.

Read the full article here.

Read patient experiences of inherited breast cancer on Telling Stories Understanding Real Life Genetics.

The Telling Stories team has been really pleased with the response it has had to the Telling Stories Understanding Real Life Genetics resource since joining Twitter earlier this year.

Not only have we been gradually building up our followers, but recently we have received some great unsolicited feedback about the resource from various followers including JGD UK – a charity dedicated to improving the awareness, prevention and management of Jewish Genetic Disorders in the UK – and MedSchool Project, a group of students aspiring to do medicine at University.

Other followers include Nursing Science Watch, the Joseph Rowntree Foundation, Rare Disease report, ChooseWell Wales, Genetics Watch, Patient information Forum, Rare Disease UK, Genetic Alliance UK and numerous support groups (including Arrhythmia Alliance, Huntington’s Disease Association, SWAN UK, Sibs UK, Beating Bowel Cancer, Chromosome Foundation, Sickle Cell Society and Heamophilia Society).

Our Tweets provide followers with updates about the Telling Stories resource (including how they link to national and international awareness raising events such as National Cholesterol week, Breast Cancer Awareness Month, Parents’ Week, Self-care Week, World Diabetes day, Movember and Decembeard), as well as news about project team members and activities.

As well as helping to spread the word about Telling Stories, our presence on Twitter has also resulted in an increase in traffic to the Telling Stories website and interactions with organisations that we would not normally have reached.

Lots more Tweets to come from Telling Stories in 2013!

Follow Telling Stories on Twitter: @GeneticStories

The Glamorgan-based Telling Stories Understanding Real Life Genetics project team was delighted to be contacted earlier this year by the National Institute for Health and Clinical Excellence (NICE), requesting permission to use Tony’s video story about sickle cell disease – which forms part of the Telling Stories resource – as part of an educational package being developed to accompany their clinical guideline on the ‘management of acute painful sickle cell episode in hospital’.

The NICE guideline contains a recommendation about training, and the education package has been specifically designed to help users deliver this recommendation:
All healthcare professionals who care for patients with an acute painful sickle cell episode should receive regular training, with topics including:
• pain monitoring and relief
• the ability to identify potential acute complications
• attitudes towards and preconceptions about patients presenting with an acute painful sickle cell episode

We, along with storyteller Tony, were extremely pleased to contribute to the resource, which has recently been published and can be found here

Great to see patient stories having such an impact!

Read Tony’s story on the Telling Stories website and for further information about the resource contact Project Officer Rhian Morgan (tellingstories@glam.ac.uk).

The 25^th Conference of the International Society of Nurses in Genetics was held this year in Philadelphia on October 26-27, a few days ahead of Storm Sandy. There was the usual excellent mix of keynote, plenary and parallel speakers, and a good range of posters. Nancy Bowers gave a comprehensive, interesting and useful presentation about online learning and strategies to engage students using new technologies. Dr Cindy Anderson outlined current thinking around epigenetics and the possible impact of childbirth on the epigenome, especially in relation to labour interventions. She discussed synthetic oxytocin exposure, caesarean sections and prophylactic antibiotics as candidates for epigenetic modulation, with potential long term consequences for health.

In one particularly interesting plenary paper, Dr Norah Johnson (from Marquette University, Milwaukee) spoke about the increasing knowledge and understanding of the genetics of autism and the implications of this for nurses caring for children with autistic spectrum disorder. ASD is clearly complex, involving multiple genetic susceptibility loci, interaction between genes and with the environment. Nurses are actively involved in research in this area and others need to keep abreast of developments. In relation to this, we were pleased to hear Telling Stories identified as a useful education resource. Dr Johnson concluded by emphasising the importance of nurses identifying clients who might benefit from genetic services, through a comprehensive nursing assessment of children and families.

We were also pleased to see that in two posters presented by Jeyasehar and Eggert evaluating tools to engage health professionals in genetics in the US, Telling Stories was rated specifically by students as a resource that promoted learning.

At the Board meeting held on the eve of the conference, Dr Emma Tonkin and Prof Maggie Kirk took up their positions as Member at large and incoming President-elect respectively. There are some exciting developments being considered for 2013, including the establishment of ISONG Chapters and a real drive towards increasing global membership.

Philadelphia itself was gearing up towards Halloween. The oldest inhabited street in Philadelphia had some fine displays of pumpkins along the doorsteps! Along the Canadian border with upstate New York (where MK travelled to after the conference), the trees were looking particularly beautiful, holding onto their leaves despite some high winds.

Dr Emma Tonkin

As part of her participation in this year’s Welsh Crucible programme, Dr Emma Tonkin, Senior Research Fellow at the University of Glamorgan’s Genomics Policy Unit  (GPU), has this week had an article about her work at the GPU published in the Welsh media.
Now in its second year, Welsh Crucible brings together early and mid-career researchers from the St David’s Day Group. Researchers from business, industry and the public sector in Wales undertake a programme of personal, professional and leadership development with the aim of building collaboration across organisations and disciplines. Emma was the only participant to be selected from the University of Glamorgan for this year’s Welsh Crucible programme. Her article, published in this week’s Western Mail and also on Wales online, focuses on the importance of educating nurses and midwives about genetics, using Glamorgan-based Telling Stories Understanding Real Life Genetics as an example of the type of resource that can be used to facilitate this.
Read Emma’s article here.

Follow Emma’s Twitter feed @Emmattonkin and the work of the GPU @GlamorganGPU  and Telling Stories @GeneticStories.