University of Glamorgan

It has been widely reported this week that the prevalence of Huntington’s disease has been ‘massively underestimated and is more than double the current estimates’ (see BMJ for more details ). This indicates that prevalence is around at least 12-14 per 100,000 population. Stigmatisation and fear of financial penalties such as through insurance, are thought to be key factors in the underestimate, as people conceal their condition. The stigma attaches to those at risk of the disease as well as those with symptoms; children of a parent with Huntington’s are also at 50% risk of developing the disease.

One of the issues this raises is the need for greater awareness among health professionals, to ensure that families with or at risk of this condition, have access to the support they need. Part of the problem here is that HD still remains a rare disease (a rare disease is a condition which affects less than 5 in 10,000 people) and so may be dismissed by many health professionals as something they are unlikely to encounter. However, as Rare Disease UK points out:

• There are over 6000 rare diseases affecting over 3.5 million people (1 in 17) in the UK. • Collectively, rare diseases are not rare. • NHS services to support people with rare diseases remain patchy and poorly integrated, meaning that individuals with rare diseases in the UK and their families struggle to access the help and support that they need.

Genomic medicine undoubtedly has great potential for improving outcomes for people with commoner conditions such as cardiovascular disease and cancer and the focus on the genetic components of such common diseases is understandable and important. But let’s not forget that other substantial sub-section of the population who have, or are at risk of, rare conditions. They also need appropriate provision of services by educated health professionals.

Posted by Maggie Kirk | Tagged with education

Today saw the launch of the House of Lords Science and Technology Committee’s report on Genomic Medicine. The review has been gathering evidence during 2008/09 from a wide range of experts in the UK. Maggie gave evidence in November and the committee also went out to the US to speak with representatives from the National Human Genome Research Institute in the US (where they again heard about the education framework developed here at Glamorgan! – See presentation from Dr. Jean Jenkins, Senior Clinical Advisor to the Director)

The lobbying has paid off. Although we are still wading through the 126page report and are sure there are many positive recommendations, we are delighted with the one that focuses on the nursing professions:

Recommendation 47: We urge the Nursing and Midwifery Council to set detailed standards across the curriculum on genetics and genomics for nurses, both for pre-registration nursing education and as part of post-registration education and practice.

You can here Lord Patel on the BBC Radio 4’s Today programme talking about the need to invest more in training to deliver better health care. Apologies to anyone driving down the A470 at the same time as me when the interview came on – you might have been distracted by the mad woman grinning and whooping in her car!

Posted by Emma Tonkin | 0 comments | Tagged with education

This blog comes to you live from the International Council of Nurses Congress in Durban. Maggie and I have a joint exhibition stand for the NHS National Genetics Education and Development Centre and the University of Glamorgan. One hour into the conference and we have practically run out of all our resources! There is considerable interest in genetics from the nurses and midwives here, particularly from the South African delegates who are particularly switched on to its importance within public health. People are even offering to buy our resources so Maggie and I might just make a fast buck, extend our stay in this delightful country. More from us later after Maggie speaks at 2.30…

Posted by Emma Tonkin | 1 comment | Tagged with education

In the second of two forthcoming events from Wales Gene Park ‘The Real Gene-eration Game will examine what our genes can tell us about our roots.

Speakers: Bruce Winney, ‘People of the British Isles’, University of Oxford and Turi King, ‘What’s In a Name?’, University of Leicester

Could you be a descendent of the Celts? If you are interested in what your genes can tell about your family roots, come to our talk where experts will discuss where descendents of settlers (Anglo Saxons, Vikings, Romans, Normans) can be found and whether men with the same surname descend from the same person.

When and Where? Thursday 30 April, 6pm at Cardiff University, The Council Chamber in the Main Building, Park Place (Cathays Park campus), Cardiff CF10 3AT This event is FREE, but you need to book a place. Contact Claudine on 029 2047 5475 or andersoncn@cf.ac.uk

Event Flyer

Posted by Emma Tonkin | Tagged with education

An event at the University Hospital of Wales (Cardiff) on November 21, will be looking to find out what people think are the most important consequences of using genetic services. If you or your family has been referred to the All Wales Medical Genetics Service or you provide support to those who have been referred, then this day is for you. More information is available from the flyer below. Findings from the day will be informing the PhD work of HESAS student Christalla Pithara.

Flyer

Posted by Emma Tonkin | 0 comments | Tagged with education

Thanks to our very own Rachel Iredale and her colleagues at the All Wales Medical Genetics Service for the opportunity to attend the Cancer Genetics Open Day on Saturday. The event coincided with the 60th Birthday of the NHS and everyone who has had contact with the cancer genetics service in Wales received an invite. Despite the rain (and boy did it throw it down at times) the day was a great success with I’m told, more than 180 attending. In addition to presentations there were a number of stands providing information about the work of AWMGS and others organisations including Tenovus, Macmillan, Maggie’s Centres, Wales Gene Park and of course our very own Telling Stories. Certainly the response we had to our work continues to be very positive with those attending adamant that doctors and nurses working outside the specialty also need to know about genetics. Without comprehension of the basic principles, individuals will not get referred and other, at risk family members may not be identified. There is a second event in North Wales on 15 November. Information is available here

Posted by Emma Tonkin | 0 comments | Tagged with education

The Genomics Policy Unit is one of the five research units that make up the Centre for Research & Innovation in Care Sciences. CRICS currently has a full time MPhil studentship (two year bursary and waiver of ‘home’ tuition fees) available in topics compatible with its key research areas. Two such current topics are:

*Measuring outcomes in health professional genetics education (including the development/application of psychometric scales) *Clinical simulation in nurse education, developing real skills for practice

The quote in the previous blog referred to us as ‘a highly motivated and successful team’....and we are. If you’re interested in improving professional practice through genetics education then this studentship could be a great start for your research career.

Applicants should possess demonstrable interest in the relevant research within the Faculty, together with a 2.1 honours degree or above from a UK University, CNAA or equivalent and, if appropriate Grade 7 or above IELTS. Potential applicants should discuss their proposals in advance of applying, in the first instance with the Faculty Research Training Coordinator, Dr Gina Dolan

Applications by application form including 2,000 word proposal obtainable from: Karen Roberts, Research Administrator, Department of Health, Sport and Science, University of Glamorgan, Glyntaf, Pontypridd CF37 1DL. Tel: 01443 483158 Ext: 3158 Web link

Or download from www.glam.ac.uk/apply marking clearly that you wish to apply for a studentship at the Faculty of Health, Sport and Science.

The closing date for the CRICS studentship applications is 31st July 2008.

Posted by Emma Tonkin | 0 comments | Tagged with education

The Nowgen Centre for Genetics in Healthcare (Manchester) is running a Familial Breast Cancer Study Day next month (18 July). This training day focuses on the role of primary and secondary care in delivering familial breast cancer services as outlined by NICE guidance and will include an update on mammographic screening and MRI, preventative surgery, risk estimation and the role of primary care in the management of those ‘at risk’. The full programme is available below. For more information contact the events team: T: 0161 276 5956 email: bookings@nowgen.org.uk Or “book online”: www.nowgen.org.uk/events

Flyer

Programme

Posted by Emma Tonkin | 0 comments | Tagged with education

One year has passed since the launch of our education resource Telling Stories. We couldn’t let the fact go un-noticed (and we’re always looking for an excuse to eat cake!) so colleagues from along the corridor joined us this morning for a quick cheer. It’s been an exciting few years since the project began and we’re delighted to have secured further funding to expand the resource into medical education.

Website – 1 today

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They just lose their census!

That was the closing comment from Ann on Tuesday evening as she talked about her own experiences of tracing her family. As Kev mentioned in his earlier blog, the talk at Gartholwg Lifelong Learning Centre was well received. More that 60 came along to the event; many came armed with paper and pen eager to take away some ‘top tips’ and some stayed for more than an hour afterwards to share their own experiences and to exchange ideas.

Below are some images of the evening. They include Kev during his rendition of I am my own grandpa (the hyperlink is one of many on the web. Unfortunately none of them are of Kev singing!!) and pictures of what Family History means to Ann. The list of names is taken from an amazing little book written in the 1890’s that started Ann on her journey.

Ann and Kev

Some of Ann’s family

The start of the journey

What family history means to me..

Ann at Gartholwg

Posted by Emma Tonkin | Tagged with education

The first intake on the 20 credit level 7 (Master’s level) module “Health, genetics and decision-making” have recently completed the taught component. The module is run on a one day a month basis, with all lectures, debates and other activities taking place within that day between 9am and 4pm. We were lucky enough to secure the services of some excellent external speakers, which is a pattern we’re planning to follow again with the next intake this Autumn. The student evaluation forms were very positive, the biggest complaint about the course was that it didn’t last long enough! While this module forms part of the MSc Professional Practice offered within the Faculty of Health, Sport and Science we would welcome applicants who wish to take this as a standalone module for professional development purposes.

Given the current review of the Genetics White Paper and the House of Lords Select Committee on Science and Technology sub-committee review of genomic medicine, the role of genetics in health care is a current government priority, and looks likely to continue in that vein. In light of this, a course which looks at health, genetics and decision-making would be useful to most health professionals.

As module manager, I’d like to thank the external speakers who gave up their time to give presentations, and the students who contributed to making the module a success, and wish them all good luck in their forthcoming exam.

Posted by Kevin McDonald | 0 comments | Tagged with education

The Department of Health has just released the Progress Review of the Genetics White Paper Our Inheritance, Our Future. With an investment programme of £50million, it is encouraging to see the breadth of work that has already been achieved since 2003 when the paper outlined a number of areas of focus including: developing specialist services, research and development (to: increase knowledge, improve technology and develop testing and treatment options), mainstreaming of services with the associated education for non-genetic health professionals and encompassing it all by working to ensure public confidence.

Realising these goals always viewed as long-term and the authors have taken the opportunity during the consultation to look to the future. The consensus does appear to be that “Much has been achieved in a relatively short period, but we are only at the beginning of the process” and I was heartened to see the following comment form the Royal Society (especially in light of my last blog “n=1 follows n=0”!): “Education in genetics has trailed behind the enormous scientific and technical advances in this field and the Royal Society strongly believes that the teaching of genetics to doctors, pharmacists and nurses at undergraduate, postgraduate and continuing medical education levels must be increased as a matter of urgency.” – the time for improving genetics education is now.

Posted by Emma Tonkin | 0 comments | Tagged with education

I was in Liverpool last week at the Royal College of Nursing’s International Research Conference. This year’s city of culture appeared to be more of a draw for delegates than my presentation on practice nurses views (or lack of them) on genetics. Thanks to the one person I didn’t know who came along! It’s a pity really as I thought my lack of data was an important point to make. In research we all talk about ‘hard to reach’ groups and I don’t think we’d consider nurses one of them (especially considering there are almost 700K currently registered), but in this piece of work we’ve just done none of the readers of a journal for practice nurses gave us their opinion. Maybe an online questionnaire was the wrong choice by me, but maybe it illustrates how far we still have to go in getting them to appreciate how relevant genetics is in the work they are already doing. Thankfully, I wasn’t the only one to find their slot (mine was at 5.15!) thin on the ground so I don’t think it’s just the topic..However, it’s times like this one that reminds me of the fact that sales of vegetarian food have gone up recently now it’s been re-branded as ‘meat free’!!! Is there an alternative word for genetics that won’t send help professionals running for the door??

Posted by Emma Tonkin | 0 comments | Tagged with education

Thanks to Mick Mason and John Roberts of FAPgene (a site providing information on Familial Adenomatous Polyposis) for their invite to attend their family information day in Derby at the weekend. FAP is a condition that leads to multiple growths (polyps) in the colon and rectum and if the large bowel isn’t removed these polyps will become cancerous. With this inherited form, children of someone with FAP are at 50% risk of also having the condition. I found the day really informative and learnt a great deal from surgeon Sue Clarke about the issues for young adults with FAP who are considering surgery. I spoke about the work of the “Centre”:http://www.geneticseducation.nhs.uk to improve awareness of genetic conditions across the health service and particularly about Telling Stories site which has two submissions about FAP – Diane and Paul.

A report of the day is available here. Photos and further info are available from the FAPgene site.

Posted by Emma Tonkin | 0 comments | Tagged with education

The Wales Gene Park has a three day residential course planned for 29 April – 1 May, 2008. ‘Genetic Counselling: Principles and Processes’ is a training event aimed at all practitioners in the multi- disciplinary field of genetic and will be be held at Churchills Hotel Cardiff.

For further information contact Angela Burgess (Education Officer) Tel: 029 2068 2140 Email: burgessam@cf.ac.uk

Posted by Emma Tonkin | 0 comments | Tagged with education