University of Glamorgan

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

Posted by Emma Tonkin | 0 comments | Tagged with direct to consumer testing, framework, government, human genetics commission

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

Posted by Rhian Morgan | 0 comments | Tagged with genetics, stories, storytelling

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.

Posted by Maggie Kirk | Tagged with stories

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

Posted by Rhian Morgan | Tagged with genetics, stories

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.

Posted by Kim Madden

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

Posted by Kim Madden

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 "rare diseases", education

Accoring to Netdoctor news

Scientists have discovered that the way prostate cancer develops in men with a faulty ‘breast cancer gene’ is the same by which breast cancer develops in women with the same gene fault.

Cancer Research UK-funded scientists at the Institute of Cancer Research (ICR) identified early genetic changes that accumulate over time and lead to cancer in mice lacking the BRCA2 gene in their prostate gland.

The finding that both diseases develop the same way in men and women with a faulty BRCA2 gene suggests that breast cancer drugs may be effective against hereditary prostate cancer.

Lead author Dr Amanda Swain, from the Section of Gene Function and Regulation at the ICR, said: ‘The discovery that BRCA2 alterations play the same role in the development of hereditary prostate cancer as they do in breast cancer is an important step.

‘This sheds light on the relationship between the two conditions and could help highlight overlapping areas where similar treatments could be used to treat both.’

Dr Lesley Walker, director of cancer information at Cancer Research UK, said the findings in the journal PLoS Genetics suggest that breast cancer drugs called PARP inhibitors may also be effective against prostate cancer.

‘While we’ll need to see the results from more patients before we know if this drug could be used in men with this type of prostate cancer, this discovery shows that it’s an exciting possibility,’ he added.

Almost 45,700 women are diagnosed with breast cancer in the UK each year, while prostate cancer accounts for about 36,000 cancer diagnoses each year.

Posted by Juping Yu | Tagged with breast cancer, gene, prostate cancer

The Scientist video awards, readers’ choice is now open for voting. The following address takes you directly to the voting pages on the-scientist.com website and the GENEtics GAMY Project Rap is the second entry listed. Enjoy the video and don’t forget to vote!

http://www.the-scientist.com/fragments/survey/videoawards2010/voting.jsp?campaignId=11

Posted by Kim Madden | 1 comment

The Scientist magazine have contacted the GAMY team to let us know that we have been shortlisted as one of the five finalists for best video in their multi-media awards. “GENEticS” (http://www.youtube.com/watch?v=0OnwOKiMVb8&feature=channel) is a genetics rap put together as part of the GAMY Project in collaboration with Jon Chase. A winner will be selected by a team of judges in the next month and will be featured in the September issue. A “viewer’s choice” will also be selected by readers through The-Scientist website.

Watch this space for further details and a link for voting.

Posted by Kim Madden | 0 comments

A new genetic test for autism in children is now a step closer after the world’s largest study into the disability discovered a number of genetic links to the condition. Researchers found dozens of rogue genes in more than 1,000 children suffering from autism.

People with autism have problems with social interaction, poor communication and developing friendships. It affects about 588,000 people in the UK. The research team have said the findings come closer to helping identify the root cause of autism and could hasten the development of the first ever genetic test for the condition.

The research, conducted by around 60 teams of experts from 12 countries including the UK and Republic of Ireland, identified clusters of genetic mutations or changes that were almost 20 per cent more common in autistic children than in unaffected individuals. It found whole chunks of DNA are lost or duplicated in affected children, which the researchers are sure are at least partly responsible for the condition.

Researchers have also identified “rogue” genes related to brain development which appear to be more common in those with autism. There may also be some overlap between the genetic causes of autism and conditions such as epilepsy and schizophrenia. Treatments used for these conditions could be applied to autism.

Dr Gina Gomez de la Cuesta, from the National Autistic Society, said: “This study furthers our understanding of genetic variation in autism, however there is a great deal more research to be done. Genetic testing for autism is still a long way off, given that autism is so complex. Whilst it is very important that research continues, it is also crucial that those living with the condition have access to appropriate advice and information, as the right support at the right time can make an enormous difference to people’s lives.”

For full text click here

Posted by Verity Leach

A ‘completely different approach’ to cancer treatment BBC news by Alex Hudson

“Up until very recently, all patients with breast cancer were basically given the same therapy.

“We now clearly know that’s not the right way to do things.”

Professor Peter Rigby, chief executive of the Institute of Cancer Research, believes that recently the way treatments for cancer are being researched has completely changed.

And this, he thinks, is because of great strides made on how scientists are able to understand the genetic code.

In 2003, the Human Genome Project succeeded in sequencing the human genome to 99.9% accuracy, allowing scientists to “read” human DNA. Since then, researchers have been using this so-called roadmap to find a correlation between certain genomes and cancer.

This means that, in theory at least, cancer could be treated on a molecular level rather than using current therapies – such as chemotherapy or surgery – which damage many healthy cells along with those which are cancerous.

The full story can be found here

Posted by Juping Yu | Tagged with cancer, genetics, treatment

Keep up to date with regular tweets from GPU for the latest happenings, news and articles of interest. Please check us out and begin following us on: http://twitter.com/GlamorganGPU

Posted by Kim Madden | 0 comments

COUNCILS SEEK ENGAGING RESEARCHERS Research Councils UK is calling for researchers who are active in public engagement to take part in a project about their work. RCUK has issued a call asking early career researchers to submit profiles about themselves to feature in a booklet being put together by the National Coordinating Centre for Public Engagement and Vitae, the researchers’ career association. http://www.rcuk.ac.uk/news/100513.htm

Posted by Rachel Iredale

Great night last night in Bay Art, Bute Street. Art exhibition organised by the Wales Gene Park called ‘Your future in your genes’ displaying artwork by young people from Butetown Youth Pavillion and Parc Prison. See www.engagingwales.org/the-1000-genome

Posted by Rachel Iredale