University of Glamorgan

The Chief Medical Officer (CMO) Professor Sir Liam Donaldson, the UK Government’s principal medical adviser and the professional head of all medical staff in England, has stressed the need for more awareness and understanding of rare diseases in the ‘rare is common’ section in his 2009 annual report on the state of public health published yesterday

Rare diseases, which are often genetic, are defined are those affecting fewer than five in every 10,000 people. There are more than 6,000 rare diseases, so in fact one person in every 17 has a rare disease. The conditions are usually chronic and often start in childhood. They include neurological and metabolic disorders, cancers, muscle diseases, neurological conditions and heart defects.

Professor Donaldson’s findings affirm the need for resources such as the Glamorgan-based, award-winning genetics education website Telling Stories, Understanding Real Life Genetics which has been developed to promote understanding of the impact that genetic conditions have on real life, and their relevance to healthcare practice. Telling Stories draws on real life stories from those with, or at risk of, genetic conditions, many of which are classed as rare diseases, such as Duchenne muscular dystrophy, Rett syndrome, Costello syndrome, phenylketonuria, familial adenomatous polyposis and Fragile X.

In his report, Professor Donaldson highlights that people with rare diseases can often encounter difficulty in obtaining a diagnosis and in accessing the right services and support for themselves and their families, and specifically stresses that as more and more children with rare diseases are surviving into adulthood because of improved treatments and services, their transition to adult services is often unsatisfactory as expert services for adults with rare diseases are lacking.

In an article in The Times yesterday which highlights the story of Katy, who has a rare genetic condition called MCADD (medium chain acyl CoA dehydrogenase deficiency), Sir Liam said that there was an urgent need for more understanding and funding of more than 6,000 rare diseases. “These are the Cinderella conditions,” Sir Liam told The Times. “This is about patchy and fragmented services, poor co-ordination and lack of clinical awareness about the diagnosis. It’s not just poverty of access, but poverty of visibility and representation.”

Sir Liam’s recommendations recognise the need to ‘raise public awareness of this neglected group of diseases’ and will include a national clinical director for rare diseases to oversee the development of clear standards and approaches to treatment, particularly to address problems encountered by sufferers moving from child to adult services. He will also propose national registers, to improve surveillance, planning and research.

Posted by Rhian Morgan | 0 comments | Tagged with genetics, rare diseases

Last week I read an interesting tweet highlighting the significance of family history and health, and how our understanding of genome sequencing will potentially influence and inform health care in the future. Ian Sample, Science correspondent for the Guardian, reported on 10th March, ‘Genomes of an entire family sequenced in world first’.

In brief, scientists at the Institute for Systems Biology in Seattle have sequenced the entire genomes of four family members. Researchers then used this information to pinpoint genes responsible for diseases affecting the family. The American family of four is described as unusual because the parents are healthy but their two children have inherited two rare medical conditions, Miller’s syndrome and primary ciliary dyskinesia.

Writing in the journal Science the researchers report that being able to identify the defective gene for many diseases will aid diagnosis as well as the arrangement of appropriate counselling for patients and family members. They also suggest that ‘in the future, everyone is likely to have a full genome sequence in their medical records, making familial genetic comparisons easier’.

Perhaps an opportunity here for engaging the public in debate about the implications of full genome sequencing and the advancement of genomics within health care?

Posted by Kim Madden | 0 comments

The Sunday Times

Lois Rogers reports that a FERTILITY clinic is raffling a human egg in London to promote its new “baby profiling” service, which circumvents British IVF (in vitro fertilisation) laws.

The winner will be able to pick the egg donor by racial background, upbringing and education. Payment for profit is illegal in Britain, but the £13,000 of free IVF treatment will be provided in America.

The raffle, to be held on Wednesday, is to promote a tie-up between the Bridge Centre, a fertility clinic in London, and the Genetics and IVF Institute (GIVF) in Fairfax, Virginia.

The Anglo-American commercial venture was set up last autumn and is aimed principally at women in their forties and fifties who have little prospect of a successful pregnancy with fertility treatment using their own eggs. A handful of women from Britain have so far been treated, with 10 more booked in over the next three months. The clinic expects this number to rise to 25 or more a month and says it achieves “take-home babies” for about 60% of clients.

The eggs are provided by American donors aged between 19 and 32, all of whom are university students or graduates. Overweight women or smokers are not accepted onto the donation programme Before picking a donor, the British women scan detailed anonymised profiles, including the donors’ motives for selling. The profiles include recordings of the women talking about their attitudes, as well as pictures taken of them in their childhood. They only provide an up-to-date photo if they enter serious negotiations.

Women egg donors in America can make $10,000 (£6,600) a time if they are well educated and with desirable physical characteristics. The sale of their eggs was condemned yesterday by Josephine Quintavalle, founder of Comment on Reproductive Ethics, a pressure group, who said the infertility market had plumbed new depths.

“In no other branch of medicine would the ruthless exploitation of the vulnerable be tolerated. These women selling their eggs are taking a huge risk with their health and future fertility simply because they need the money.”

In Britain, donors have to agree to be identified and contacted by any resulting offspring when they reach the age of 18.

Payments are restricted to a maximum fee of £250 for expenses, and as a result donors are in extremely short supply.

One of the first Britons to use the US service is Celia, a 38-year-old married businesswoman from the Midlands, who received two donor eggs in America at Christmas. Last week the prospective mother underwent a three-month scan that confirmed the twin pregnancy, which has cost her a total of £13,000, is progressing normally.

Her donor was a 27-year-old, whose eggs have produced four babies and three pregnancies, including Celia’s twins.

“I wanted someone who looked a bit like me as an adult, but the main consideration was the quality of her eggs,” said Celia. “This woman produces 30 at a time, and they were split between me and another woman, otherwise the cost of donation would have been double the £9,000 we actually paid.”

“I don’t want anyone to know these babies are not mine. Not my family or any of my friends. We don’t intend to tell the children, either.”

The lure of payment means there is no shortage of would-be egg donors in America. GIVF receives up to 500 applications a month, but only about five will pass the two-month screening programme.

“Although it is anonymous, they get asked a lot of questions. We want them to understand this is something bigger than a process with a cheque at the end of it,” said Jennifer Machovina, its donor egg programme co-ordinator.

“We have about 200 donors on our books and they cover a big range of ethnicities and backgrounds, so people have more chance of getting a donor who looks like them.”

In Britain, only 956 of the 36,861 women who had IVF in 2007 received donor eggs. Half of those were egg sharers and of the remainder many were friends or relatives of the women being treated.

The number of donors is boosted by an arrangement whereby women receive free treatment if they agree to share their eggs with another patient who has no useable eggs at all. The drawback is that anyone undergoing fertility treatment necessarily has inferior eggs, so the chances of pregnancy for both women is relatively poor.

Egg donation is a protracted and painful process that requires treatment with potentially dangerous drugs. A donor has to undergo a course of treatment aimed at stimulating her ovaries to produce a dozen or more eggs in one menstrual cycle, instead of the single ripe egg released every month in natural conditions.

Bridge Centre staff admit they were bemused by the GIVF free egg offer from America. “They are much more market-driven than we are, and they do have some rather more creative techniques,” said Michael Summers, a senior consultant in reproductive medicine at the Bridge.

He believes a relaxation of restrictions on payment for egg donors in Britain will depend on the results of the next election. If the ban stays in place, he predicts infertility tourism to America will grow steadily.

Posted by Juping Yu | 1 comment | Tagged with human egg, ivf

Members of the Genetics and Merthyr Youth – GAMY project and the Genomics Policy Unit (GPU) attended the Beacon for Wales showcase event in the Senedd in Cardiff Bay yesterday afternoon.

The Beacon for Wales is a partnership between University of Glamorgan, Cardiff University, Amgueddfa Cymru-National Museum Wales, Techniquest and BBC Cymru Wales and helps to support, recognise, reward and build capacity for public engagement work. The purpose of yesterday’s event was to highlight some examples of projects funded by the organisation and to showcase the Beacon for Wales.

Dr Rachel Iredale was invited to give a presentation on the GAMY project, which involved engaging with a group of young people aged 16 to 19 to explore their attitudes towards genetics, how these attitudes were formed and whether they changed over time. Fellow GAMY team members Kim Madden and Nicki Taverner also attended the event and fielded lots of questions about the project from interested parties. The Glamorgan stand was also manned by GPU members Juping Yu and Rhian Morgan. Juping received funding from Beacon for Wales for a recent project which involved engaging young people in an online focus group , and Rhian attended in her capacity as project officer for the Glamorgan-based Telling Stories, Understanding Real Life Genetics project and as a representative of the NHS National Genetics Education and Development Centre and to promote the involvement of the GPU’s work in genetics education.

The event was attended by members of the public, representatives from various Beacon’s projects and Welsh universities and by several Assembly members. The GPU and GAMY girls wasted no time in seizing the chance to lobby some of the AMs about possible funding opportunities and even got in on some photo opportunities.

Left to right: Rachel Iredale, Kim Madden, Nicki Taverner, Juping Yu and Rhian Morgan

Posted by Rhian Morgan | 0 comments

The BBC website reports that scientists have developed a gene test which predicts how well chemotherapy will work in cancer patients.

Starting with 829 genes in breast cancer cells, the team whittled down the possibilities to six genes which had an impact on whether a drug worked. They then showed that these genes could be used to predict the effectiveness of a drug called paclitaxel in patients. It is hoped the approach, reported in The Lancet Oncology, can be replicated for other cancers and treatments.

More than 45,500 women are diagnosed with breast cancer in the UK each year – and it is estimated that around 15% of these women will be prescribed paclitaxel. The researchers estimate they could potentially spare half of the patients currently receiving this drug from treatment which would not be effective.

Posted by Rhian Morgan | 0 comments | Tagged with breast cancer, gene test, genes

When the competence-based genetics education framework for nurses and midwives (Fit for Practice in the Genetics Era) was launched in 2004, we said then that it should be reviewed in 5 years or so. Last Thursday (February 25th) at Birmingham, we met with 30 stakeholders (including patients and carers, nurse educators, practitioners, representatives from the NMC and RCN, and genetic counsellors) from across the UK to do just that.

Staff from the Centre (including Maggie and Emma) joined with colleagues Marcus Longley, Kevin McDonald and Heather Skirton in planning for what was a positive and successful day. Another colleague from the Faculty of Health, Sport and Science, Ian Mansell, joined us to represent the RCN Learning Disability Forum. Jimby also came to lend support once again, and I was pleased to see him wearing his Wales badge!

We used real life stories (from Telling Stories)to form the basis of group discussions that considered the patient/family needs and the knowledge and skills needed by nurses to meet those needs. Through an iterative process, each group was able to comment on the issues identified by the other groups. In a plenary afternoon session, we then fed back on the group discussions, and used electronic voting to capture views.

It was a very busy and lively meeting and I was impressed with the level of commitment that people showed in engaging with the ‘business’ of the day – we had to shoo people away from the group work so that they could go and enjoy the lunch available!

Over the next few months, we will be refreshing the framework, based on the discussions held. What I hope will result is a framework that is fit for the genetics and genomics era.

Posted by Maggie Kirk | 0 comments | Tagged with competences, genetics education

February 28th is Rare Disease Day and to mark the event, the Welsh Assembly is hosting a reception this evening at the Senedd.

So far, between 6000 – 8000 rare diseases have been identified, affecting around 1 in 17 people in the UK. So whilst individual diseases may affect less than 5 in 10,000 people, collectively, they are not rare at all. Around 80% are genetic in origin, and there is no cure for the great majority. One of the purposes of Rare Disease Day is to provide ‘one voice’ for this sizeable patient group.

Dr Rhian Morgan, Project Officer for Telling Stories, is attending on behalf of the GPU and NHS National Genetics Education & Development Centre in Wales. Many of the stories on our website are from people or families affected by a rare condition and there is often a common thread through their stories as they ask for their voices to be heard.

A European survey in 2003 of patient groups highlighted the importance of being given information about the rare condition. Lack of information and the absence of a diagnosis were key obstacles to practical support, leading to a sense of isolation. Families often have to struggle to get the support and information they need.

As advances in research shift the focus of genomic healthcare onto the common complex conditions in which genetics plays a significant part, it is important to remember that those affected by rare diseases continue to need care and support from health professionals who, whilst not necessarily knowing about the individual condition themselves, do know where to go to get information.

Posted by Maggie Kirk | 0 comments | Tagged with rare diseases

Netdoctor News

Scottish scientists have discovered a link between deprivation and a gene involved in breast cancer.

The finding, which is published in the British Journal of Cancer, may help to explain why women from deprived backgrounds are less likely to survive breast cancer.

Researchers at the University of Dundee found that women from poorer backgrounds were more likely to have a faulty p53 gene, increasing their chances of relapse and death from the disease.

Dr Lee Baker, from the university’s department of surgery and molecular oncology, revealed that p53 mutations can come about in two ways – as a result of genetic predisposition and because of a poor lifestyle.

‘Smoking, drinking, poor diet etc can lead to p53 mutations and are more common in women from lower socio-economic groups, who are also more likely to experience a recurrence of the disease and to die as a result of breast cancer,’ he revealed.

‘This research makes a strong link between p53 and deprivation, and then between p53 mutation and recurrence and death.’

The scientist claimed that by lifting people out of deprivation, it may be possible to reduce their chances of having problems with their p53 gene and to ultimately reduce their risk of developing breast cancer.

Dr Caitlin Palframan, policy manager at Breakthrough Breast Cancer, commented that the reasons for the connection between deprivation and breast cancer survival are not yet known.

However, she noted that ‘a range of lifestyle, environmental and genetic factors are all likely to play a part’.

Posted by Juping Yu | 0 comments | Tagged with breast cancer, deprivation

UK scientists have identified genetic ‘hotspots’ that could help doctors to tailor bowel cancer treatment to suit individual patients.

A team at the University of Dundee calculated that one in three people with the disease have gene faults that mean common drugs will not work for them.

The researchers analysed samples from 106 bowel cancer patients to see how often known faults in the K-Ras gene occurred.

The gene encodes a protein that is required to switch cell growth on and off, and is known to be faulty in some bowel cancers, causing the switch to be permanently ‘on’ and allowing uncontrolled cell growth.

Writing in the British Journal of Cancer, the study authors revealed that faults in this gene are even more common than previously thought, meaning that around 12,375 out of the 37,500 people diagnosed with bowel cancer each year in the UK probably have a K-Ras fault.

Professor Roland Wolf, who co-authored the study, explained: ‘These findings may in the future be relevant for selected patients with advanced bowel cancer as doctors will be able to more precisely target these treatments to the patients who will benefit and avoid treating those who won’t.’

Bowel cancer is the third most common cancer in the UK, with the majority of cases diagnosed in people over the age of 60.

Posted on behalf of Prof Maggie Kirk

Posted by Rhian Morgan | 0 comments | Tagged with bowel cancer, cell growth, gene, genetics, hotspots, k-ras gene

The European Society of Human Genetics offers fellowships for next Spring Courses. If you wish to apply for a fellowship, please send your request together with your CV and a reference letter to the following e-mail address: esgm.fellowships@eshg.org

Please quote in the subject the title of the course you wish to attend (see below). ESHG Fellowships cover registration fee (tuition, course material, lunch, coffee break and shuttle bus from the meeting point to the venue and back).

CALENDAR OF SPRING COURSES

1. Course in Genetics and Molecular Pathology of Age Related Neurodegenerative Diseases March 29-31, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

2. Course in Mitochondrial Metabolism and Cancer April 20-23, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

3. Course in Genomic and Cultural Evolution of Humans May 17-19, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

4. 23rd Course in Medical Genetics May 23-28, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

5. 6th Course in Statistical Genetic Analysis of Complex Phenotypes June 21-24, 2010 – EuroMediterranean University Centre of Ronzano, Bologna (Italy)

For further info on these residential ESGM 2010 courses please click on the titles above, or visit www.eurogene.org or contact courses@eurogene.org

EXPRESSIONS OF INTEREST FOR LIVE WEBCASTING

They are collecting the expressions of interest of Remote Training Centres which intend to follow via internet the Live version of ESGM courses (in the Hybrid courses format).

Should your Institution be interested in joining our network of Remote Training Centres, please contact giuseppe.curcio@eurogene.org.

Posted by Juping Yu | 0 comments | Tagged with genetics, training

Yu J (2009) Young people of Chinese origin in western countries: a systematic review of their sexual attitudes and behaviour. Health & Social Care in the Community, 18(2):117-128.

Juping is very pleased that one of her papers has just been published in the journal Health and Social Care in the Community. The paper reports on a systematic review of sexual attitudes and behaviour among ethnic Chinese young people living in western countries.

This is GPU’s second publication this week, following Verity’s paper published earlier this week. A good start of GPU’s another productive year, isn’t it?

Posted by Juping Yu | 0 comments | Tagged with chinese, publication, publication, sexual behaviour

Verity Leach is a PhD student at the Genomics Policy Unit. Her first paper entitled “Gender Differences in Attitudes towards Genetic Testing, Risk Interpretation and Genetic Testing Concerns” has just been published in the Journal of Young Investigators. The paper is based on the project carried out for her BSc study at the University of Swansea. The full text of the paper can be found here

Many congratulations. Well done Verity.

Posted by Juping Yu | 6 comments | Tagged with genetics, publication, publication

Netdoctor Stories

The discovery of two genes that enable cancer cells to resist some chemotherapy drugs may lead to a new test to help doctors decide the best treatment for individual patients.

Researchers at the Dana-Farber Cancer Institute in Boston analysed the DNA in samples of tissue taken from breast cancer patients. They identified two genes that, when faulty, enable tumour cells to resist a common class of chemotherapy drug called anthracyclines. However, further research revealed that despite their resistance to these drugs, cells with overactive versions of the genes are still vulnerable to other drugs such as cisplatin and paclitaxel.

Lead researcher Dr Andrea Richardson, whose findings are published in the journal Nature Medicine, commented: ‘These results suggest that tumours resistant to anthracyclines may still be sensitive to other agents.

‘So this would be very useful as a test to help pick the therapy that’s going to be most effective for these patients.’

Meg McArthur, a spokeswoman for Breakthrough Breast Cancer, said that the research is ‘important’ for identifying appropriate treatments for individual patients. She noted: ‘These are early, small-scale study results and more research is now needed before the benefits could be seen by patients.’

Posted by Juping Yu | 0 comments | Tagged with breast cancer, genes

2010 brings in changes and updates to our Telling Stories, Understanding Real Life Genetics website. From today (Monday 18th January 2010) our new web address will be www.tellingstories.nhs.uk

The Telling Stories website continues to be hosted by the NHS National Genetics Education and Development Centre and if you have already bookmarked our website, the original web address will still work (redirecting you to our new homepage).

To find out more about all the latest Telling Stories news and new features including our new stories, new ‘Frequently Asked Questions’ guide, new expert commentaries and new online questionnaire, visit our website and read our latest bulletin and please remember to add Telling Stories to your favourites for 2010!

Posted by Rhian Morgan | Tagged with genetics, Telling Stories, telling stories, website

A recent article in The Times reports on the growing business of personal DNA testing and the safety of our genetic data. Click here to read more.

Posted by Rhian Morgan | 0 comments