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Turning the tide for rare disease

Time for action

It has been just under a year since Genetic Disorders UK restructured and became Gene People. Gene People has a renewed focus on people not conditions.

“We are currently setting a new three-year strategy. There is a clear focus on actions that will move the needle for those affected by genetic conditions. With all the recent changes and more to come, it is absolutely the right time to focus on the future and the needs of our community,” says Alastair Kent, chair of Gene People.

“The past few months have seen consultation after consultation on key aspects of the health and social care systems that impact our community, and there are more changes and consultations to come. In addition, we have seen the publication of the England Rare Disease Framework Action Plan, and the publication of those for the devolved nations is due before the end of this year,” he comments. “Gene People is focused firmly on action. The driver shaping our thinking is: if not us, who? and if not now, then when. We have numerous opportunities to influence and assist with implementation of the changes that could have positive impact on our community, and we want to take them.”

Gene People is well-known for its genetic counsellor-led helpline for anyone affected by any genetic condition. Alastair states: “Expanding and building on this is pivotal to our plans. We know it is a valued service for those at any point in their journey, and we want to build on that success.”

The full strategy will be shared later in the year, but two foundation stones of the new strategy are already in train.

Samantha Barber, chief executive of Gene People comments: “People are our focus, so it is only natural and right to involve as many people as possible from the community in our work. We are lucky to have a strong and growing Partnership Network of condition-specific support groups. The Partnership Network is free to join for condition-specific support groups whether they are registered charities or not, just complete the form at www.genepeople.org.uk/partnership-network-sign-up. We have added to that involvement with a Partnership Network Advisory Panel to ensure that we take views from a range of our membership across all our work. This will be a key group to test our proposed strategy with—will what we want to do, do what they need us to do? what have we missed? what would make them proud to be part of our Network?

Gene People has a renewed focus on people not conditions.

“The second foundation stone is the Gene People Corporate Connection,” continues Samantha. “We want to bring people together who want to commit to action for our community. We are asking industry to partner with Gene People to achieve change. A central part of the Connection is about exactly that—creating opportunities for people to connect with a focus on action.”

“With a growing commitment in rare diseases, Ipsen has been collaborating with the Gene People team over the past year, and we’re delighted to progress that relationship further through their Corporate Connection initiative. We share many common goals to better meet the needs of those affected by rare conditions,” said Dr Ian Weatherhead, head of corporate affairs at Ipsen.

“We have some ideas of what to discuss first in the first meeting planned for May,” says Samantha, “however, Connection is all about collaborating, so this is not the case of Gene People deciding on actions then forcing it onto partners—this will be a true collaboration. We are planning to shape some of our work in Connection around the results of the Pharma Insight Survey, for which we are on the steering group. It is a great example of collaboration, with eight charities and the ABPI coming together to find out more about how industry works with patient organisations regarding patient involvement and anticipated future needs. We will be looking at how we can capitalise on this insight to maximise the influence of patient voices across pharma functions.

“This formation of the Pharma Insight Group is another indication that the time is now, not only for genetic patient organisations but patient organisations in general. We can all see that things need to change and that we have some agency to help achieve the necessary alterations.”

Topics that might be explored by the Corporate Connection are at the macro level and could include: how do we make sure that those with rare conditions are not forgotten during the COVID-19 recovery; how are we not seen as “done” because of the Innovative Medicines Fund; what does the patient organisation for the 21st century need to be and to do, why, for whom, and crucially, how funded; how will the big things like whole genome sequencing impact patient organisations and their ability to support and serve their communities; what will VPAS (Voluntary Scheme for Branded Medicines Pricing and Access) mean for genetic conditions and how do we help shape this; and so on. The Gene People team are clear that thinking about the macro topics is only beneficial if it leads to action and this is why Corporate Connection is not a talking shop—although there will be opportunities for networking as that has been a gap in the past two years—rather it will focus on changing behaviour and minds and do work.

“What will action look like? I am not really into publishing white papers, although they have their time and place,” says Samantha, “but I am interested in empowering people. So an action might be advocating for a manifesto ask that has been formulated in the Connection, or a new programme of work to assist condition-specific support groups to change, skill up and develop. We are not going into this with pre-determined answers; this is a collaboration. There is too much work to do to do this alone or to set off down the wrong path. With so many interventions in the health system at the moment, a strong treatment pipeline, and real willingness between industry and condition-specific support groups to collaborate, we need to focus and get the right things done first.”

The way the Connection will work is based on Samantha’s time at the Social Care Institute of Excellence and the programme she managed there about children and young people’s social care. Although the field is different albeit connected, the methodology is transferable. The impact of Connection will be monitored. As Samantha says, “We can’t do anything that isn’t shifting the needle, making that difference. We’re a charity that exists to improve the lives of those affected by genetic conditions and those of their families and carers.”

Gene People wants the Corporate Connection to be inclusive; any part of the medicines industry working on genetic conditions can apply to become a partner. For more information, email

Samantha.barber@genepeople.org.uk


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