Genomics Policy - Home

This blog has moved

2010-10-18T13:29:00Z

This blog has moved to http://genomics.blogs.glam.ac.uk

Telling Stories tees off at The Belfry!

2010-10-06T14:42:00Z

With Ryder Cup fever sweeping Wales and the UK this week, the Telling Stories team kept up with the golfing theme (minus the dodgy golfing knitwear!) as they visited the famous Belfry Golf Club in the West Midlands to give a ‘masterclass’ on the Telling Stories Understanding Real Life Genetics website to the Association for Healthcare Communications and Marketing conference yesterday. The invite to give the presentation came as a result of the ‘Best Use of New Media’ award that the Telling Stories website won at last year’s AHC conference.

The session, which was attended by delegates from a wide range of backgrounds within healthcare communication and marketing, used Telling Stories as a case study to illustrate how online storytelling can be used as a powerful and effective means of engaging and educating healthcare professionals. As well as giving the audience an overview of the project from its inception to the present, attendees were invited to participate in some group work on both storytelling in general, and using some of the stories featured on the website. From the feedback received on the day, it seemed the session was well received by those attending, who commented that they found it enjoyable and engaging and felt that it provided some good ideas for others wishing to use the storytelling as an educational or training tool. Whilst the masterclass might not have quite reached the frenzied excitement of the final afternoon of the Ryder Cup, like Graeme McDowell’s final putt on the 17th on Monday, it went down well! :)

Genetic link to ADHD

2010-09-30T09:22:00Z

Scientists from Cardiff University, writing in The Lancet, have found evidence of a genetic link to attention-deficit hyperactivity disorder. Stretches of DNA from 366 children who had been diagnosed with the disorder were analysed and compared with DNA from 1,047 people without the condition. They found that 15% of the ADHD group had large and rare variations in their DNA – compared with 7% in the control group.

At least 2% of children in the UK are thought to have attention-deficit hyperactivity disorder (ADHD). Affected children are restless and impulsive. They may also have destructive tendencies, and experience serious problems at school and within family life.

Professor Anita Thapar from Cardiff University said: “We found that, compared with the control group, the children with ADHD have a much higher rate of chunks of DNA that are either duplicated or missing. “This is really exciting – because it gives us the first direct genetic link to ADHD.

The researchers stressed that there is no single gene behind ADHD, and the work is at too early a stage to lead to any test for the disorder. But they hope the study will help unravel the biological basis of ADHD. This could eventually lead to new treatments.

Click here for the whole article

Migraine cause 'identified' as genetic defect

2010-09-27T12:44:00Z

The BBC website today reports that scientists have identified a genetic defect linked to migraine which could provide a target for new treatments. A flawed gene found in a family of migraine sufferers could help trigger the severe headaches, a study in Nature Medicine suggests. Dr Zameel Cader of the University of Oxford said the discovery was a step forward in understanding why one in five people suffer from migraines.

A migraine is a severe, long-lasting headache usually felt as a throbbing pain at the front or on one side of the head. Some can have a warning visual disturbance, called an aura, before the start of the headache, and many people also have symptoms such as nausea and sensitivity to light during the headache itself. Until now, the genes directly responsible for migraine have been unknown.

In this study, scientists including some from the Medical Research Council’s Functional Genomics Unit at the University of Oxford found a gene known as TRESK was directly attributable as a cause of migraine in some patients. The study found that if the gene does not work properly, environmental factors can more easily trigger pain centres in the brain and cause a severe headache. The international team used DNA samples from families with common migraine to identify the defective gene.

Genetics and Genomics ‘State-side’

2010-09-20T21:32:00Z

This week I’m heading across ‘the pond’ to the United States for a two week visit. I’m being hosted by Jean Jenkins [Senior Clinical Advisor to the Director, National Human Genome Research Institute (NHGRI), National Institutes of Health (NIH)] and Kathleen Calzone [Senior Nurse Specialist, National Cancer Institute, NIH]. The busy schedule that they have planned will see me talking about the work of the NHS National Genetics Education and Development Centre as well as learning about the current activities and priorities in the US to integrate genetics and genomics into healthcare practice.

Like Maggie Kirk and myself here in the UK, Jean and Kathy are working hard to promote and support genetics and genomics within the nursing community. While I am visiting, they are holding a meeting for their Faculty (nurse educator) Champions, so it will be really interesting to hear how easy or difficult they are finding developing/delivering university curricula.

Thanks to the Faculty of Health, Sport & Science for funding this trip through its research awards.

Posted on behalf of Emma Tonkin

BSHG at Warwick

2010-09-20T21:26:00Z

This month saw the annual conference of the British Society for Human Genetics take place at the University of Warwick. As usual the NHS National Genetics Education and Development Centre had an exhibition stand.

Lead for the Nursing Professions Programme, Maggie Kirk gave a presentation of the work that is being undertaken in collaboration with the University of Glamorgan, to evaluate new nursing posts within specialist services for inherited cardiac conditions. Funded by the British Heart Foundation, experienced cardiac nurses are being employed into the new role of Cardiac Genetic Nurse and are supporting and delivering some of the genetics aspects of care and information giving that individuals and families require. The 3 year evaluation period will end Autumn 2011.

Work was also presented in poster format at the conference and showcased the Centre’s work on • An effective model for teaching genetics to general practitioners • An updated genetics education framework for UK nurses, and • Using Google Analytics to inform strategy for the ‘Telling Stories, Understanding Real Life Genetics’ health professional education resource.

Posted on behalf of Emma Tonkin

Science award for rap video

2010-09-14T13:42:00Z

Congratulations to colleagues in the GPU that have been working on the GAMY project – Dr. Rachel Iredale, Kim Madden and Nicki Taverner. The Genetics Rap video that they commissioned from Jon Chase (aka Oort Kuiper) as part of their work has just been voted ‘Judges Choice’ in the recent The Scientist 2010 Labby Multimedia Awards – video section Judges comments included Jeffery Segall (Professor of anatomy and structural biology at the Albert Einstein College of Medicine in New York): Had me wanting to dance—must be in my genes! Nigel Holmes (legendary graphic designer and founder of Explanation Graphics, a graphic design firm in New York): The most fun and the most original; and the science is right there too. Very nice!

If you are looking to engage people (young and old) in genetic science then try the video – the students we’ve shown it to love it!

Gene variations & breast cancer

2010-09-08T12:34:00Z

According to BBC news: Gene variations may have breast cancer role.

Researchers say they have identified gene variations which may play a role in developing common breast cancer. A study of women in Finland and Sweden found 121 variations in their DNA linked to this particular kind of cancer. The team think they are linked to oestrogen production – which plays a role in a breast cancer type afflicting post-menopausal women. The findings might help identify women who might benefit from oestrogen-lowering drugs.

Poker hand

The researchers examined the genetic makeup of thousands of women with and without breast cancer in Sweden and Finland. They found 121 tiny variations in 15 different genes which they say appear to be linked to a woman’s risk of developing what is known as oestrogen receptor positive breast cancer. The variations are in a section of DNA close to a gene responsible for producing oestrogen and the suggestion is that the variations may play a collective role in the production of the female sex hormone. The individual impact of each variation is minimal but if a woman is dealt a combination of these variations, say the scientists, the higher her exposure to the hormone will be, and the higher the risk of cancer.

“Breast cancer genes have been identified, for example BRCA1, BRCA2, P53, ATM. These genes have been identified with breast cancer susceptibility but mainly in breast cancers of younger women,” says Dr Edison Liu of the Genome Institute of Singapore, who led the study.

“What we are finding here is potentially the genetic amplifiers for breast cancer in postmenopausal women which historically was considered not genetic in origin.”

It is already established that women who start menstruating early in life or who have a late menopause have an increased risk of breast cancer, because of their longer exposure to oestrogen. This research, says Dr Liu, may reveal the genetic element to the oestrogen equation.

“It’s like being dealt a bad hand in a poker game,” he says. “And this risk is greatly affected by other non-genetic factors like a woman’s reproductive history,” he says.

Known remedy

Dr Liu says that while the results will require further validation, the sample is large and the outcomes were significant. They have also detected the same genetic variations in women with cancer of the uterus where oestrogen exposure is also considered key.

Should the results be confirmed by further studies, he says the work could be used to identify women who carry a combination of these genetic variants, and who may benefit from existing oestrogen-lowering drugs to reduce the cancer risk.

“We’re moving closer and closer to personalised and tailored medicines,” he says. “Ultimately, we may be able to tailor oestrogen exposure up and down to optimise health and minimise risk.”

Nell Barrie, science communications officer at Cancer Research UK, said: “We know that oestrogen levels play an important role in the development of breast and womb cancers.

“This research brings us a step closer to understanding the many subtle genetic changes that interact to affect individual women’s risk of these diseases. Studying these changes should help to identify women most at risk so they can be offered tailored advice, screening and treatments in the future.”

Details of the research are being unveiled today at the British Society for Human Genetics Annual Conference, which is being held in Warwick.

Exercise, genetics and obesity

2010-09-03T10:55:00Z

According to Netdoctor story: Exercise cuts genetic tendency for obesity that people with a genetic predisposition to obesity can reduce their risk by taking regular exercise, scientists say.

A study by the Medical Research Council (MRC) Epidemiology Unit at Cambridge suggests that exercise can reduce the genetic tendency for obesity by almost 40 per cent.

Dr Ruth Loos and colleagues studied data on 20,430 people in order to investigate 12 different genetic variants that are linked to obesity.

They found that each additional genetic variant carried by an individual was associated with an increase in body mass index (BMI) equivalent to 445g in weight for a person with a height of 1.7m.

However, in individuals who did plenty of exercise, the increase was 36 per cent lower than in physically inactive people.

Writing in the journal PLoS Medicine, the study authors said their findings show that even those people with a high genetic predisposition to obesity can benefit from leading a healthy lifestyle.

‘Our findings further emphasise the importance of physical activity in the prevention of obesity,’ they concluded.

Tam Fry, a spokesman for the National Obesity Forum, told the Daily Express that the findings were ‘not rocket science’.

He insisted: ‘Whatever your genetic make-up, exercise [and] physical activity is fundamental and genes should never be an excuse for not doing any.’

Just published - New Guidelines for Direct To Consumer Genetic Testing

2010-08-05T08:24:00Z

For those of you who may be interested in the processes and ethical issues around Direct To Consumer Genetic Testing, the Human Genetics Commission (the UK Government’s advisory body on new developments in human genetics and how they impact on individual lives) has just published the Common Framework of Principles for direct-to-consumer genetic testing services

HGC news article Full document

The Principles cover all aspects of direct-to-consumer genetic testing services including: • the marketing of tests • information for consumers • counselling and support • consent and data protection • the laboratory analysis of biological samples and • the levels of support that should accompany the genetic test results

Tell your story about Telling Stories - students wanted to help with genetics film

2010-08-02T12:34:00Z

Are you a healthcare student who has used the Telling Stories, Understanding Real Life Genetics (www.tellingstories.nhs.uk) website to learn more about genetic conditions and how they can impact on everyday life as part of your studies? If so, we’d love to hear form you.

We are looking for one or two healthcare students who would be willing to be interviewed about their experiences of using Telling Stories in their education as part of a film that Public Service Management Wales are making for their Storytelling Centre for Leadership project, in which they would like to highlight Telling Stories as an example of good practice. Filming is likely to commence within the next 2 to 3 months. Anyone who is interested and would be willing to help, please email Rhian Morgan, Telling Stories Project Officer or call 01443 483027

How often do you cry at conferences?

2010-07-22T10:57:00Z

My career spans well over 30 years and in that time I’ve been to numerous scientific/health conferences and listened to eminent speakers present leading edge research. I’ve been impressed by facts, figures, charts, and fabulously colourful diagrams (molecular geneticists seem to excel at these). From all of these, probably three stand out. Two because complex material was presented so clearly we were all able to appreciate the implications and value of what was being achieved. The other was because I was so bitterly disappointed that the keynote leading lecture by the very eminent scientist was completely over the heads of most of the audience (even the molecular geneticists struggled) and I learnt nothing (except a reminder of the importance of avoiding jargon and PowerPoint slides that no-one more than a metre away can read…).

Last week I found myself at another conference, on Alzheimer’s disease hosted by the Faculty of Health, Sport and Science and Grwp Gwalia. We had the facts and figures (that there are currently around 38,000 people in Wales with dementia, and this figure is likely to rise to 48,000 by 2021) alongside some interesting presentations on initiatives to provide care for patients and families affected by the condition. But what I think will really have moved the audience to try to ‘do their bit’ for such families was the story told by Peter Oldacre, husband and carer of Ann. Peter showed a brief video of Ann’s life since her diagnosis just a few years ago, narrated by her daughter. The story was told simply, sincerely and with occasional humour. I was not the only person wiping away tears as Peter’s story drew to a close. Good quality evidence is of course crucial in informing policy. But the human face of that, as told through real life stories, is what I think can really make a difference in getting people to engage with the evidence. I shall remember Peter’s story, and his courage in telling it, for a long time.

Experts comment on Telling Stories

2010-07-14T11:08:00Z

Telling Stories, Understanding Real Life Genetics draws on real life stories from people with or at risk of a genetic condition, or those caring for them. Told in the storytellers’ own words, the stories are mapped to genetic education frameworks for healthcare professionals and are supplemented with teaching and learning activities and links to further information. Two news stories were added to the site last month: Patrick’s account, of living with sickle-cell disease and Caroline’s story of her son’s Tuberous sclerosis.

The Telling Stories team also invites comment on aspects of the stories from professionals with expertise across healthcare practice. Commentaries provide additional perspectives to supplement the stories for teaching and learning. Those recently added include: Inherited bowel cancer – Kathy Calzone provides a US perspective to Paul’s Familial Adenomatous Polyposis (FAP) story, Sandra Hall a CF specialist nurse comments on Rachel’s cystic fibrosis story, Merlyn Glass ,a Genetic Nurse Counsellor from Johannesburg, offers comment on Down syndrome from a South African perspective, Dr Sue Clark ,a consultant colorectal surgeon, comments on Diane’s FAP storyfrom a surgical perspective, Dr Andrea Edwards Lead Genetic Counsellor (All Wales Medical Genetics Service), reflects on Karen’s tuberous sclerosis story and discusses the different perspectives of reproductive decision making and the choices available during a pregnancy when a genetic condition is suspected in a family, and Dr Stephen Hailey offers a GP’s perspective on several of the stories.

For any enquiries about Telling Stories, please email project officer Rhian Morgan

GAMY scoops 1st prize in photographic competition!

2010-07-12T11:32:00Z

The Beacon for Wales and Vitae SWW Hub hosted a conference at the Millennium Centre last week, ‘Exploring the What, Why, and How of Public Engagement.’ In the run-up to this event, delegates were invited to submit images for a photographic competition highlighting their work in public engagement. Images were accompanied with a 140 character ‘snap-shot’ phrase and 150 word abstract. The GAMY Project submitted 2 entries, one of a GAMY Marshmallow Monster and another of GAMY participants getting to grips with genetics in a ‘web of issues’ activity. There were some fabulous and creative images on display from a magnified tear drop to a shot of knees; however it was GAMY with their ‘web of issues’ photograph that scooped 1st prize. The panel of judges was unanimous in their decision saying that the image from GAMY clearly captured public engagement activity and conveyed a real enthusiasm and excitement in engaging young people in research activity.

Teenagers and Genetics…lol*

2010-07-07T11:42:00Z

Nicki Taverner from the GAMY Project has written a great short article which features in the June edition newsletter from the British Society for Human Genetics. Nicki is a genetic counsellor at West Midlands regional Genetics Services and has been faced with teenagers wanting genetic testing in her genetic counselling clinics. In this article, Nicki tells us about her experience of working with teenagers on the GAMY Project, in particular what she has learned about this age group and what they think about genetics.

http://www.bshg.org.uk/newsletter_43.pdf