Press Centre:


Wed 2 April 2014 

77 patient groups call for improvements in rare disease drug evaluation in a groundbreaking new report

Download the Charter

Genetic Alliance UK today launch a landmark Patient Charter that highlights the concerns patients have about the new approach the Government and NICE are using to determine whether or not medicines for rare conditions are made available through the NHS.

The Patient Charter is being launched at a breakfast meeting hosted by the Association of the British Pharmaceutical Industry (ABPI) and Bioindustry Association (BIA) at their headquarters in central London.

The Patient Charter, which has been endorsed by 77 patient groups, sets out a list of recommendations to improve the way medicines for rare conditions are evaluated. This is the first time so many patient groups have come together to set out a united case for change.

The Patient Charter published by Genetic Alliance UK shows patients are concerned that, while greatly needed, the existing process is opaque, potentially disruptive to the wider NHS and risks downplaying the patient voice.

Alastair Kent OBE, Director of Genetic Alliance UK, said:

“The public have consistently given support to the concept of providing highly priced medicines to patients with rare diseases. It is right that we have the HST evaluation process, but given what is at stake, it is critical that the process is fit for purpose. It needs to be transparent, it needs to integrate with the health service, and the patient voice needs to be central to the entire process.


77 patient groups agree on these 29 recommendations for progress. Never before have we seen so many patient groups from across the rare disease community come together with a united call for change. Let’s use this is as strong starting point from which to move forward and develop the evaluation process that the rare disease community needs.”

The Patient Charter is launched today at a breakfast meeting (Wednesday 2nd April) hosted by the ABPI to representatives from patient groups, the National Institute for Health and Care Excellence (NICE), NHS England, clinicians, the pharmaceutical industry and other stakeholders.

The meeting is being chaired by Alastair Kent OBE (Director, Genetic Alliance UK). On the panel are Steve Bates (Chief Executive Officer, BIA), Josie Godfrey (Associate Director, NICE), Dr Robin Lachmann (National Hospital for Neurology and Neurosurgery) and Frances Macdonald (ABPI).

Commenting on the publication of Genetic Alliance UK’s Patient Charter, ABPI Director of Value and Access Paul Catchpole said:

“The ABPI welcomes the publication of Genetic Alliance UK’s Patient Charter to support further stakeholder engagement around the development of the NICE Highly Specialised Technology (HST) Programme. Providing more meaningful and extended opportunities for patient involvement in decision making about medicines is very important. The Patient Charter will be particularly helpful when NICE reviews its interim processes and methods for the HST programme after it has gained more experience of the programme and a number of medicines have completed evaluations using the new process.”

Steve Bates, Chief Executive of the BoIndustry Association said:

 “Genetic Alliance UK should be commended for the launch of this Patient Charter which articulates many of the core areas that all stakeholders interested in the development of new, innovative medicines for patients with rare and very rare diseases need to be concerned with. In particular, how NICE chooses which medicines go through this new evaluation route through topic selection will be incredibly important, not only for the many patients who want to access new medicines but for the developers of those products who need predictability and transparency.”

The Patient Charter is a clear and unified communication of patients’ perspectives and priorities on NICE’s interim Highly Specialised Technology (HST) evaluation framework through the eyes of patients affected by those diseases most likely to require an HST evaluation for newly developed medicines in order for them to be accessed through the NHS.

The Patient Charter is intended to directly inform NICE in advance of its planned review of the HST evaluation framework, which it has committed to undertake before the end of 2014, and to provide a future reference point for the patient view on this issue. The recommendations have been endorsed by 77 patient groups who support the need for change.


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For more information please contact:   Louisa Petchey, Policy Officer.


Phone: 0207 704 3141

Notes to the Editor

Following the transfer of highly specialised technology (HST) evaluation to NICE, significant concerns were raised by health practitioners about the potential fragmentation of care for rare disease patients. To gather the patient perspective on this change, Genetic Alliance UK ( coordinated a workshop to explore NICE’s interim HST evaluation framework, which has been in place since May 2013. The findings highlight the flaws in NICE’s interim framework through the eyes of patients affected by those diseases most likely to require an HST evaluation in order to access a new medicine.

The first drug, eculizumab (Alexion) is currently undergoing HST Evaluation following Ministerial referral. Two further medicines - eliglustat (Genzyme) and elosulfase alfa (BioMarin) - are scheduled for assessment later this year. NICE has committed to a consultation on the interim HST framework before the end of 2014.

The backdrop to these changes has been a wider consideration of rare diseases and access to medicines, including the recent publication of the UK Strategy for Rare Diseases ( by the Department of Health in November and a subsequent debate in the House of Commons.

About the Charter

The Charter makes 29 recommendations for change and is the product of a workshop held by Genetic Alliance UK which brought together patient representatives from 16 patient groups to  explore and discuss NICE’s interim HST evaluation framework. The Patient Charter represents a strong, clear and consistent statement, outlining key recommendations to be communicated back to NICE, from the perspective of patients and their families. This Patient Charter has been produced to ensure that the patient voice is heard during NICE’s review of its HST evaluation process.

The Patient Charter has subsequently been made available to patient groups within Genetic Alliance UK’s membership or who are actively considering membership. The Patient Charter has received 77 endorsements from patient organisations and support groups.

The Patient Charter is laid out to reflect the stages of the HST process; from its role in the wider commissioning landscape to its scope and capacity for patient engagement. It concludes with a broader consideration of NICE’s role in the evaluation of benefit and risk.

The project that enabled Genetic Alliance UK to host the workshop and produce the Patient Charter was supported by unrestricted grants from Pfizer and Alexion.

Patient groups

The patient groups that took part in the original workshop were: Action Duchenne, aHUSUK, ALD Life, AKU Society, A-T Society, CML Support Group, Cystic Fibrosis Trust, Jennifer Trust for Spinal Muscular Atrophy, MPS Society, Muscular Dystrophy Campaign, Myrovlytis Trust, Niemann-Pick Disease Group (UK), PNH Alliance, PSC Support, Tuberous Sclerosis Association and UK PIPS.

A complete list of all the patient groups that have endorsed the Charter are available on pages 4 and 5 of the report. Details about each organisation can be found via our website:

About Genetic Alliance UK

Genetic Alliance UK is the national charity working to improve the lives of patients and families affected by all types of genetic conditions. We are an alliance of over 160 patient organisations.

Our aim is to ensure that high quality services, information and support are provided to all who need them. We actively support research and innovation across the field of genetic medicine.

A Registered Charity (Number 1114195)

A company Limited by Guarantee (Number 05772999)




SWAN UK (Syndromes Without A Name) to hold mystery-themed Undiagnosed Children’s Day on 25 April 2014

  • “It’s a Mystery” day to help raise awareness for children with undiagnosed conditions
  • SWAN UK supporting families of children with undiagnosed genetic conditions.

London, UK 27 March SWAN UK (Syndromes Without A Name) will host its first ‘mystery-themed’ awareness day on Friday 25 April to help support children with undiagnosed genetic conditions.

It is estimated that 6,000 children with undiagnosed genetic conditions are born every year in the UK. [1] One in 25 children is born with a genetic disorder [2] and it is estimated that 50% of children undergoing NHS genetic testing may not get a diagnosis. [3]

To get involved in Undiagnosed Children’s Day, companies are invited to hold a mystery-themed day at work, where employees dress as their favourite TV detective. It could be as simple as a trademark moustache, or a full Poirot, Ms Marple or Sherlock inspired outfit. Other mystery-themed activities could include a mystery quiz and guess the baby competition.

For thousands of families across the country, the future is the biggest mystery of all. They are the families of children with undiagnosed genetic conditions. The families living with a syndrome without a name.


Not having a diagnosis means that your family and friends do not understand what you are going through. They want to help but they don’t know how and you have nobody to talk to. Thanks to SWAN UK, we were able to talk to other parents in the same position, receive suggestions, practical advice as well as emotional support.” Member, SWAN UK


“SWAN UK is very much needed. For parents who are so isolated, SWAN UK has been the amazing umbrella to put all families together.” Member, SWAN UK


To find out more and to sign up for Undiagnosed Children’s Day please go to:



About SWAN UK (Syndromes Without A Name)

SWAN UK is an initiative run by Genetic Alliance UK offering dedicated support and information to families of children with undiagnosed genetic conditions.

Many of the children that SWAN UK supports have complex medical needs and/or learning disabilities. Yet the reasons for their symptoms remain an ongoing mystery. With no diagnosis, or prognosis, the families of undiagnosed children can be left feeling extremely isolated and alone.

Bringing families together through its online community and family fun days, SWAN UK is developing relevant information and working with medical professionals to highlight the unique issues faced by these families.

For more information see


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Genetic Alliance UK registered charity numbers: 1114195 and SCO39299. Registered company number: 05772999.


Media Contacts:

Lauren Roberts

Coordinator SWAN UK

T: +44 (0)20 7704 3141



Sarah Ricketts

Corporate Fundraiser SWAN UK

T: +44 (0)782 746 1411



Nicole Yost/Ben Tan/Rachel Redmond

Ogilvy HealthPR

T: +44 (0)20 7108 6640

[1] The SWAN children: Meet some of the 6,000 British children who suffer from Syndrome Without A Name that no doctor can diagnose. Available from: ( ) Last Accessed March 2013

[2] Genetic Disorders – Statistics on Genetic Disorders. Available from: (Last Accessed March 2014)

[3] Dr J McLaughlin, Dr E Clavering, Prof E Haimes, Dr Michael Wright, (2011) Genetic Journeys: Key Findings from a study of the experiences of families referred to paediatric genetics. PEALS, Newcastle University. p8