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August 3, 2010

Genomics News
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» Huntington's disease prevalence under-estimated

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.

July 8, 2009

Genomics News
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» House of Lords call for NMC to set standards

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!

June 30, 2009

Genomics News
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» Genetics stand under siege in Durban!

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…

April 8, 2009

Genomics News
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» The Real Gene-eration Game!

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

July 8, 2008

Genomics News
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» Cancer Genetics open day

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

» Calling all users of genetic services in Wales...

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

July 7, 2008

Genomics News
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» Looking to develop your research career??

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.

June 30, 2008

Genomics News
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» Familial Breast Cancer Study Day

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

June 19, 2008

Genomics News
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» Celebrating the first year of Telling Stories

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

June 13, 2008

Genomics News
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» Family historians never die ….

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