Genetic Alliance UK: A united voice for all those affected by genetic conditions




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Video title: Genetic Alliance UK: A united voice for all those affected by genetic conditions
Released on: January 14, 2013. © PharmaTelevision Ltd
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In this episode of PharmaTelevision News Review, filmed at the PharmaTelevision Studios, Oxford, UK, Fintan Walton talks to Melissa Hillier, Assistant Director And Jessica Burke, Project Manager from Genetic Alliance UK. www.geneticalliance.org.uk/routemaptoolkit.htm
Role of Genetic Alliance UK in influencing governments to regulate and govern rare and genetic disorders
Fintan Walton:
Hello and welcome to PharmaTelevision News Review here in Oxford, in England. On this show I have Melissa Hillier, who is Assistant Director at Genetic Alliance UK, and also with her is Jessica Burke, who is the Project Manager at Genetic Alliance UK, welcome to you both.
Melissa Hillier:
Thank you.
Jessica Burke:
Thank you.
Fintan Walton:
May I start with you Melissa, obviously Genetic Alliance says something about what you do, tell us what the purpose of Genetic Alliance is, we know it's a charitable organization, what's its purpose?
Melissa Hillier:
Our purpose is to work from the perspective of our member organizations, we have over a 150 different charities that fall under our alliance and we work together to ensure that the patient voice is heard in key debates, not only in the UK but also in Europe as well.
Fintan Walton:
Okay, so obviously most people are aware that there are a quite a number of different genetic diseases, all of them owning common in fact is the genetic, but also all have different effects on the patients of course, so the purpose then as you've just said is to really unify that voice into a single voice, so that means that obviously working closely with those organizations is important, but your communication, obviously one of the key forms of communication is the advocacy to particularly into government, so how does that work?
Melissa Hillier:
Absolutely, so as you said there is a lot of rare and genetic conditions, we know there is over 6000 rare conditions and 80% of those are genetic, so we have a broad scope really and what we are trying to do is bringing together the common themes and the issues that patients and family have and feed that into key debates within government. We do that through a number of means and number of channels, particularly for example responding to government consultations about issues around genetics where you know key issues, that sometimes may be patients and families don't know about in terms of don't know whether there is a consultation happening but also whether, some of our member organizations are very small and they may not feel they have the capacity or the ability to respond to some of these consultations, and we also sit in a number of patient and as a patient representative on a number of boards and governing bodies, again making sure that the voice of those who are affected by genetic conditions is heard in this sort of heart of debates that are taking place, and I think the good thing about Genetic Alliance UK is we can speak from the perspective of a whole group of different conditions and where the conditions themselves are very different the issues are often very similar.
Campaigning to government and creating awareness to public on improvements in genetic science
Fintan Walton:
Indeed, and of course communication to government is one important thing, there is always a change going on in the healthcare system, but equally the science is changing, there are new improvements, so communication back to patients as well, so how does that work?
Melissa Hillier:
Absolutely, science is changing all the time, we are at, genetic's when we were first set up over 20-years ago it was a very, very niche area that maybe only a few conditions fell under but now it's much broader, and communicating the scientific side of thing is often very difficult because the issues are complex, the science is complex and we actually find communicating those issues back to patients but also to MP's and to civil servants is complicated when people don't have a scientific background. We've tried very hard to produce patient information around technical issues, we've also produced some novel cartoons that explain some of the very complex issues such as preimplantation, genetic diagnosis in simple terms so that people can understand that and then make informed decisions about that new technology, so actually those cartoons are very useful for our membership, but also for some of our campaigning policy work as well.
Fintan Walton:
Right, so education is key?
Melissa Hillier:
Absolutely.
Genetic Alliance UK's toolkit to Route Map rare genetic disease
Fintan Walton:
And that brings us on to you Jessica, because you are a Project Manager on one of the initiatives that's been taken within the Genetic Alliance UK and that is the Route Maps for rare diseases, tell us about that initiative?
Jessica Burke:
So this is a Department of Health funded projects, this has supported ten of our member groups to create a condition specific Route Map and based on those experiences we've created a toolkit, a step by step guide basically for other groups to then be able to create their own Route Map.
Fintan Walton:
Okay, so just tell us a little bit more about that, because obviously if I was, if I had a child that was affected for an example with a particular rare genetic disease these Route Maps help patients who belong to that particular group to understand the best way in which they can get access to care, support, education, so forth?
Jessica Burke:
That's right, so it's basically a comprehensive guide sign posting patients and their families to help them improve access to information and care, it looks at more than just a medical pathway it also looks at social care, education and support in a work place, anything that is really relevant to the condition.
Fintan Walton:
Right, so to better understand that I suppose clearly for most patients these things come as a shock the fact that their child may have a genetic disease and so forth, so there is, there are emotional issues, there are social issues, there are political issues, so your Route Map helps them to understand the way forward for them to ensure that their relatives, or themselves are better looked after and cared for?
Jessica Burke:
Yes, so it depends on the condition, each of the groups have really looked at what's impacted on them, so some are really focused on the medical aspect, others have looked at more the social and the counseling side as that something that they feel is more important and affects their patients more than the medical aspect.
Fintan Walton:
Right.
Jessica Burke:
And it really looks it from diagnosis through to long-term care and maintenance really of a condition.
Fintan Walton:
Right, and of course because you've created a toolkit which is basically a template for each of the other, for each other charity who is focused in this, in a particular disease area shows that they are not all the same they are quite different, is that right?
Jessica Burke:
Yes so when we picked the team pilot groups we really tried to look at a lot of different conditions, so we've made sure that we had a congenital condition, a late onset condition, neurodegenerative condition just because it's different obstacles that each condition faces and we wanted to make sure that we with this toolkit we are able to help every group that wanted to create a Route Map.
Regulatory issues and controversies
Fintan Walton:
Right, so going back to you Melissa, we are talking here a little bit about obviously, the impact obviously has to be on patients, but also how government can influence the outcome for patients, so for an example one of the areas that's been controversial for sometime is the regulatory area and how patients who may be prepared to take some element of risk where the regulatory parties would not be so happy to take that risk, how does that work?
Melissa Hillier:
Yes it comes up quite a lot to be honest and for most of the patients and families that we work with and support there are no treatments for those conditions, so research is very much at the forefronts of their mind and it's very much the avenue they wish to take in terms of potentially having new treatments for their condition. And I think one of the issues that we found is often patients say they are very keen to take part in research but that sometimes the risks are perceived to be too great for them but patients who are actually asking more, actually we're think that this is okay and we would like to take part, so we under took a piece of research a project recently called Risks and Benefits which sat down and really collected a group of patients who were interested in this area and we used a citizens jury model to do the project which meant that patients were, it was quite intensive time, they spent two weekends together and we brought in expertise from a whole host of different backgrounds, say for example from the EMEA, from the MHRA, we also had researchers talking about their research and how they involve patients, and we sat down with the patients afterwards so they can re-discuss the issues, that could be complexities of the issues and the ethics around the issues as well to come up with guidelines and sort of thoughts and information about really the patient perspective on this and what their views were, and one of the key findings from the report was that, for example often regulatory bodies don't take into accounts some of the social issues, psychosocial issues around and taking part in research, for example on being able to take part in research can sometimes mean that the therapy that they are undergoing can enable them to do other things in their lives because their health improves slightly so and these issues may be weren't considered very much. So the findings have been very useful and we are actually going to now do a second project looking at whether or not these findings are similar in patients across Europe as well.
Fintan Walton:
Okay, and obviously that means you are going to work with your sister associations elsewhere in Europe as well?
Melissa Hillier:
Exactly yes, there are Genetic Alliance similar organizations across the Europe, so yes we will be working with those organizations.
SWAN UK Project of Genetic Alliance
Fintan Walton:
Okay and the other element to this is another project is SWAN?
Melissa Hillier:
Yes.
Fintan Walton:
Which is Syndromes Without A Name?
Melissa Hillier:
A Name.
Fintan Walton:
And tell us about that project?
Melissa Hillier:
Syndromes Without A Name, SWAN UK as it's called, is a big lottery funded project, we have funding for five-years to undertake this project and it works with children with undiagnosed conditions. It originally came from one of our member organizations a group did exist a few years ago but sadly have to close because the lady was a grandmother and she was fairly elderly and wasn't able to continue, and really these families then had nowhere to go, they had no support group and they didn't really fit into any of our other membership because they don't have a diagnosis yet, what we suspect is that most of the conditions are genetic and in fact most families have been seen by a geneticist and are very keen to carry on seeing genetics as time goes on because as we said as research moves forward and new discoveries are there and diagnosis is our main, infact we have already had one diagnosis from the project and that family has moved to different one of our members, but the project provides online support there is a Facebook group, Twitter group, we've organized fun day it's been very successful and it's been lovely to see the families come together and find a home for undiagnosed children.
Fintan Walton:
Right, that gives some hope as well?
Melissa Hillier:
Absolutely.
Launch of Route Maps toolkit and upcoming projects of Genetic Alliance UK
Fintan Walton:
Jessica, going back to the toolkit, I believe that's going to be launched soon, is that correct?
Jessica Burke:
Yes, we are planning on launching the toolkit this December, so it will be freely available on our website to any new group or organization that wishes to create their Route Maps, their own Route Map we will be spreading it far and wide by our social media and through our partnerships and networks that we have ourselves.
Fintan Walton:
And then will you then check those Route Maps when they have completed them?
Jessica Burke:
No the idea behind the toolkit is that we've developed it so that it will empower the groups to build their own capacity, that they will be available to go out and then show that the material they are using is referenced in getting specialist and clinicians to review the medical information that they have written.
Fintan Walton:
Right, and also presumably you can provide advice and consultation?
Jessica Burke:
Yes of course we will always be here to provide any support and all of the pilot groups have all agreed to have their contact details included in the toolkit so that they can provide support based on their own experiences as well.
Fintan Walton:
I suppose finally Melissa is for an organization like yours, Genetic Alliance UK, how do you measure your success? How would you like to see your, you know what sort of things would you like to be seen to have achieved over the next say three to five-years?
Melissa Hillier:
I think in terms of our sort of achievements and successes as a charity it's often in the long-term, we often play the long game. I think one of the key things for example is very recently when the new Human Fertilisation and Embryology bill went through parliament and we played a very active role in that and actually we were established back in 1990 when the first bill came through and we were a very new organization, we had five members and we campaigned very much at grassroots, it was very sort of adhoc whereas now we are much more skilled in our campaigning, and we were actually mentioned in the responses from government as a contributor. I think also in terms of going forward we have a plan for rare diseases in the pipeline from the Department of Health, which is something that we've campaigned very hard for over the last four or five-years, and I think the plan for rare diseases will be published next year. This is big achievement for Genetic Alliance UK and it's campaign Rare Disease UK, and I think it's it shows would come a long way and we can really influence proactively in the government policy around genetics and rare diseases.
Fintan Walton:
Melissa and Jessica, thank you very much indeed for coming on the show.
Melissa Hillier:
Thank you.
Jessica Burke:
Thank you.
Fintan Walton
Dr Fintan Walton is the Founder and CEO of PharmaVentures . After completing his doctoral research on the genetics of cell proliferation at the University of Michigan(US)and Trinity College (Dublin, Ireland), Dr Walton gained broad commercial experience in biotechnology in management positions at Bass and Celltech plc (1982-1992).
Melissa Hillier
Assistant Director
At the time of this PTV interview Melissa Hillier serves as Assistant Director at Genetic Alliance UK. As Genetic Alliance UK's Assistant Director Melissa Hillier supports the Director and Trustee Board in the development, implementation and delivery of the Genetic Alliance UK policy and communication strategies and also have overall responsibility for all communications activities, managing our Marketing and Communications Officer. Melissa Hillier manages various Genetic Alliance UK projects including the Route Maps for Rare Conditions, and the SWAN UK and also work as part of Genetic Alliance UK's Policy and Public Affairs team along with Policy Analyst, Development Officer (Scotland) and Public Affairs Officer and also have overall responsibility for communication and HR activities at Genetic Alliance UK.
Jessica Burke
Project Manager
At the time of this PTV interview Jessica Burke serves as Project Manager Genetic Alliance UK. The project will provide organizations with limited resources a practical and cost-effective framework for improving information, access and coordination of health and social care services for individuals and families. This project aims to develop a methodology to address the issue in the long term across a wide range of conditions, systematically harnessing the unique expertise of user led support groups and developing their role in information provision and self directed care. There is a need for Route Maps as there is an estimated 2.9 million people in England likely to develop a rare condition at some point in their life and current service provision for people with rare conditions is unsatisfactory. The lack of information about rare conditions means that it is extremely difficult for patients and families to play an active role in their care, make informed choices about their treatment options or plan for their future. This project is funded by the Department of Health in England.
PharmaVentures
PharmaVentures is a corporate finance and transactions advisory firm that has served hundreds of clients worldwide in relation to their strategic deal making in the pharmaceutical, life science and healthcare sectors. Our key offerings include: Transactions / deal negotiations; Product / technology valuations; Deal term advice; Due diligence & expert reports; Strategy formulation; Alliance management; and Expert opinion for litigation/arbitration cases. PharmaVentures provides the global expertise to ensure our clients generate the highest possible return on investment from all their deal making activities. We have experience of all therapeutic areas and can offer advice on both product and technology commercialization.
Genetic Alliance UK
Genetic Alliance UK is a national alliance of organizations with a membership of over 150 charities which support all people affected by genetic disorders. Its primary goal is to promote awareness and understanding of genetic disorders so that high quality services for people affected by genetic conditions are developed and made available to all who need them. As an organization Genetic Alliance UK focuses on issues of policy and practice and keeps an active watch on developments in the UK and Europe that will influence the effective transfer of knowledge and understanding into products and services for the families that are supported by its member groups. Individually, many genetic conditions are rare and as such it is difficult to raise their profile and the needs of those affected by them. Genetic Alliance UK provides a common platform from which effective programmes can be launched to raise awareness, inform the media and influence government, industry and the NHS.