Genetic Alliance UK Monthly E-Update

October 2010

Welcome to Genetic Alliance UK’s October e-update for members and trustees.

This month we had our 21st Annual General Meeting, a resounding success. We also consolidated our new name and visual identity with the launch of our new website and facebook group page.

In this e-update you will find summary updates on these key areas of our work.


Policy at Genetic Alliance UK is a product of the shared interests of all our member groups. We actively encourage member’s involvement and participation. Here are some of our latest achievements and opportunities to get involved.

If you have any inquiries about our current policy work please contact our Policy Analyst.


Equity and excellence: Liberating the NHS

We have submitted our response to the NHS White Paper. Our response looks at how the Government’s proposals to reorganise the NHS impact on people affected by genetic conditions. Thank you to all our members, patients and families who contributed.

In addition to the broad ranging White Paper, the Department of Health launched four more detailed consultations explaining in greater detail how the proposed changes will be implemented, which we responded to individually.

We will continue to communicate the needs of our members during this healthcare reform process. We will keep you updated with ways to get involved through this e-update, and on the current policy campaigns page of our website.


House of Commons Health Select Committee Reviews


We have recently responded to two reviews by the House of Commons Health Select Committee.

Public spending was the timely subject of the first, and we took the opportunity to highlight the benefits of a central funding strategy for services that are currently commissioned on a national and regional basis.

Commissioning was the familiar subject of the second review to which we responded, making a case for equitable provision of specialised services that mirrors arguments we have made in our response to the White Paper commissioning consultation.

Due to the rules of these reviews, we cannot share our submissions until the Select Committee makes them public, at which point our responses will be published on our website.




Our projects focus on issues children, families and individuals with genetic disorders face. News on new and current projects, and projects completing at Genetic Alliance UK that you may find of interest are as follows.

Route maps for Rare Conditions

The Advisory Committee is confirmed and met at the end of the month. The following are members: John Devlin, Cystic Fibrosis Trust; Mike Knapton, Trustee Genetic Alliance UK; Alison Metcalf, School of Health & Population Sciences (HaPS) , University of Birmingham;  Greta Westwood, CLRN Senior Manager, National Institute for Health Reseach (NIHR) Comprehensive Clinical Research Network (CCRN); Marion McAllister, Genetic Counsellor/MRC Research Fellow, NOWGEN; Jo Grey, CEO AMEND (The Association for Multiple Endocrine Neoplasia Disorders).  

If you would like to obtain further information about this project please email Project Manager .


Risks and Benefits Project.

The Risks and Benefits project had its first steering group meeting this month. The discussion will be used to inform the development of a detailed project proposal which will be agreed at the next meeting in December. A Citizens’ Jury model to find out how patients and their families weigh up the risks and benefits of new biomedical therapies. The project is being overseen by Genetic Alliance UK. It is being led by Marcus Longley and Amy Simpson  at Glamorgan University.

Contact for further information on this project.


Paving the Way to Self Management

The project is currently looking at the following conditions: MCADD; Marfan’s Syndrome; Spinal Muscular Atrophe 2; Neurofibromatosis 1; LMBBS; Tuberous Sclerosis Complex; PNH; Sickle Cell Anaemia; Fragile X; and Haemophilia. The steering group had its first meeting.

For more information about this project contact Project Officer Douglas Caldow.


Patient Involvement Questionnaire

Natalie Frankish,  Development Officer - Scotland, has been liaising with the Aberdeen clinical genetics department to develop a strategy for the roll out of the Genetic Alliance UK Patient Involvement Questionnaire in genetics clinics in the Grampian Region over October/November. The questionnaire is designed to evaluate the service being received by patients and carers.

This is part of our ongoing work for the Patient Involvement/Questionnaire Design working group of the Scottish Clinical Genetics Forum. The forum’s membership includes all medics working in clinical genetics across Scotland. We are the only patient representation on it. We will be contributing to two of their working groups, the Clinical Governance and Audit Group and the Patient Involvement/Questionnaire Design Group.

For more information, contact .



Announcements and Events

This part of our monthly update keeps you informed with key announcements about our work and details of upcoming events.

If you would like us to mention your event here please contact .

Genetic Alliance UK new website and new facebook group are launched

We launched our new website and facebook group as part of our rebranding this month.  We have designed our new website to be more user-friendly and welcoming.   Our new Genetic Alliance UK facebook page replaces our old Genetic Interest Group page as part of the launch of our new name and visual identity.  Sign up to keep up to date with our latest information and news if you have not done so already.

We are constantly looking to improve our new website and facebook page to make them more accessible, nformative and welcoming for members and the public.  with your feedback and suggestions for improvements.

Genetic Alliance UK Member Survey 2010 is launched

As you know we have been through quite a few changes over the past year and we are interesting in hearing your opinions on our work and our aims. Your input is important to ensure that we maintain and improve our services. We are also very keen to hear you views on our recent changes.  Completing our survey will take 15 - 20 minutes.  Please do let us know your views.

Genetic Alliance UK 21st Annual General Meeting 19th October. Event

Our 21st Annual General Meeting took place on the 19th October in London and was a great success.

We welcomed three excellent speakers who explained how the theory of national commissioning has developed and how it works in practice.  They were:

Josie Godfrey, from the National Specialised Commissioning Team, who spoke about how the current NHS restructure will affect patients with genetic condtions; and

Dr Colin Steward, Honorary Consultant in Bone Marrow Transplantation for Genetic Diseases at Bristol Royal Hospital for Children, and Michaela Damin, CEO of the Barth Syndrome Trust, who jointly worked together to apply for national commissioning for Barth Syndrome, a very rare X linked condition that currently is known to affect about 150 boys worldwide.

All the presentations are available in the latest news page of our website.


Genetic Alliance UK Director meets with Minister supportive of commissioning for rare diseases.

Alastair Kent, Director of Genetic Alliance UK, met with Earl Howe, Parliamentary Under-Secretary of State for Health, to discuss progress in commissioning for rare diseases in the UK.  The Minister was very supportive. Genetic Alliance UK is happy to have established this useful relationship for our work as part of Rare Disease UK to improve services for patients and families affected by rare diseases.


Rare Disease Day 2011 dates confirmed for England, Northern Ireland and Wales.

Rare Disease Day 2011 in the four countries of the UK will coincide with the launch of the Rare Disease UK consultation on a UK strategy for rare diseases.

Rare Disease Day 2011 will take place on 28th February in England at Westminster, on 3rd March in Northern Ireland at Stormont, and on 16th March in Wales at the Welsh Assembly

The date for Scotland will be confirmed shortly; keep an eye on the latest news section of the Rare Disease UK homepage.

Details of the events will be emailed to Genetic Alliance UK members nearer the time.




Our Team

Our team consists of Head Office staff and Staff based in Wales and Scotland working with patients, our members and key stakeholders to improve the lives of people affected by genetic conditions. A full list of who’s who at Genetic Alliance UK can be found on our website. This section of our e-update will keep you informed about important developments for our team.

Welcome to:

 60 Second interview with..... Douglas Caldow (Project Officer - Paving the Way to Self Management)

Each month we will be interviewing a member of Genetic Alliance UK's team to help you get to know us better and what each person does.  This month we talked to Douglas Caldow Project Officer for Paving the Way to Self Management.  The project, based in Scotland, will produce at least ten pod/vodcasts of families with rare genetic conditions discussing how they self manage their care, which will be disseminated among health professionals and support groups, as well as being available online.

What is a typical week like at Genetic Alliance UK?
There hasn't been a typical week at Genetic Alliance UK so far! The most consistent part of the job is meeting people active in the  managemetn of rare genetic conditions.  Everyone has such brilliant stories it's a shame we can't film them all.

How long have you been working at the charity?
2 months.  I work from home in Edinburgh.

Any highlights/achievements your're especially proud of?
I'm sure I'll be proud of the project when it's finished.  For now my proudest achievement is converting the electrics of Chinese manufactured film lights to the UK standard and it not all exploding when I turned it on.

Key challenges for the future?
I have a few more interview candidates to find for my project, a lot of filming to do and what will undoubtedly be many hours of editing all the footage into the most helpful self-management interviews they can be.

If you were marooned on a desert island, which patient organisation would you take with you?
The one with a yacht. Failing that I'd like to have Radio Grapevine.  They broadcast to patients and the local community of St Johns Hospital in Livingston.  They have good music and would know how to have a desert island party.

What advice would you give to individuals and organisations new to the Alliance?
Be positive.  Just based on the people I have met in my short time with Genetic Alliance UK, members of organisations and people with rare genetic conditions alike, I feel that I can pretty strongly say that a positive attitute and a lot of determination is what really makes a difference to people's lives.


Useful news

In this section we select some of the top stories in the media and other relevant publications that may be of interest including policy news, new resources and scientific advancements.

1/ Final Meeting of the Pre-Conception Testing working party of the HGC (Human Genetics Commission) produces a report to be published later in the year.

The final meeting of the Pre-Conception Testing working party of the HGC (Human Genetics Commission) produced a report that was ratified by the Commission at its plenary session in Northern Ireland on 15th September. This will be published later this year, and will be a welcome edition to the discussion of this issue.

The working party has considered the ethical, social and legal implications of preconception genetic testing.  The final report is supportive of preconception genetic testing for groups of the population at-risk of being carriers of genetic conditions, due to family history or ethnic background.  It endorses preconception testing as an opportunity to improve reproductive choice and improve information and knowledge on genetics.  The importance of adequate pre and post test genetic counselling is also highlighted.

View the Preconception testing - paper from the plenary meeting for more information by following the link to the word document.


2/ The Human Genomics Strategy Group Education and Training Committee have had their first meeting

The cross-departmental Human Genomics Strategy Group Education and Training Committee have had their first meeting.  The group discussed how the NHS can get ready for developments in genomics.  It was recognised that there is a significant need for education and training programmes for Doctors and other healthcare professionals if the NHS is to respond effectively to possiblilities in genomics for the benefit of patients.

The Human Genomics Strategy Group (HGSG) has responsibility for monitoring advances in genetic and genomics research of potential benefit to healthcare services in the NHS, including workforce and bioinformatics planning.  The HGSG was formed after the Government response to the House of Lords Science and Technology Committee Inquiry into Genomic Medicine was published on 14th December 2009.  Comments on the Government's response can be found from the PHG Foundation and GenomeWeb Daily News

3/ Experts criticise decision to Shut Down HFEA

Bionews, 18th October 2010

News reporting on arguments against the closure of the Human Fertilisation and Embryology Authority (HFEA) from former members.

4/ The Challenge of genetics and consanguinity for General Practice.

Bionews, 4th October 2010

Comment piece on the much debated Dispatches programme "When Cousins marry" on rare genetic conditions and cousin marriage that was broadcast in September (and highlighted in our last e-update). The authors argue that while consanguinity alone isn't the cause, the high rate of autosomal recessive disorders in some communities deserves closer attention in healthcare provision, especially from GPs who should have knowledge of family and community dynamics.



External Announcements and Events

We will list news of external events and announcements that might be of interest here.

The AKU Society's 4th International workshop on AKU (Alkaptonuria)

The AKU Society will hold the 4th International Workshop on AKU on Monday 10th and Tuesday 11th January 2011 at Cambridge University.

The workshop will explore new ways of finding a cure for AKU, the first disease to be identified as inherited in 1901 by Dr Garrod in London.  Proceedings will be published as a special edition of the Journal of Inherited Metabolic Disease

The AKU Society ask for contribution to costs of hosting the event, with discounts available for research teams and PhD students involved in AKU research.  For more information and if you wish to book a place email the


DIA Patient Fellowship Programme for 23rd Annual EuroMeeting 2011 in Geneva

The DIA Patient Fellowship Programme promotes the participation of representatives of patient organisations at the annual  flagship EuroMeeting in Geneva by covering their travel, accommodation and admission costs.

DIA (Drug Information Association) is very keen to promote their 2011 programme to patient groups in the UK.  The programme is now in its 6th year and Eurordis, the European alliance of patient organisations and individuals working in the field of rare disease, are actively involved.   Some of our members have attended and found it a great networking opportunity.

If you are interested in applying, download the Advance Programme (pdf) for more detail on the agenda for the EuroMeeting 2011, and the Application Form, (pdf) which includes more information about the 2011 programme.

The deadline for applications is 22nd November 2010.


Opportunity fo patients diagnosed with Familial Chylomicronemia Syndrome to take part in market research

Gillian Kenny Associates a medical market research agency, are conducting market research interviews with patients who have been diagnosed with Familial Chylomicronemia Syndrome (FCS).

The interviews are approximately 1 hour in length and over the telephone.  Patients with FCS who participate receive an incentive of £50.

If you would like further information on the study are are interested in participating please contact Kerrie Gardner, Project Assistant, on 01594  515113 or by