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Westminster conference: Rare diseases and specialised commissioning, January 2020

Workshop informing a policy briefing document for rare diseases and specialised commissioning with a focus on genomics, research and access to medicine

This Westminster Health Forum policy conference was held on 9th January 2020 & was attended by AJ McKnight and Sam Robinson providing a Northern Ireland perspective on rare disease policy.  The forum was very well organised with a good size function room also a good sized room for the tea/coffee refreshments, however it was frustrating given the topic that it would have been impossible for anyone in a wheelchair as there was stairs down to the toilets, stairs to the refreshments and stairs to the  function room itself.  The information provided below was collated in good faith with apologies for any items I’ve noted incorrectly – there was a rapid download and discussion of substantial information.

Westminster Health Forum policy conference, Rare diseases and specialised commissioning in England - genomics, research and access to medicine
Timing: Morning, Thursday, 9th January 2020; Venue: The Caledonian Club, 9 Halkin Street, London SW1X 7DR; Twitter #WHFEvents
8.30 - 9.00         Registration and refreshments with an opportunity to catch up with friends and colleagues
9.00 - 9.05          Chair’s opening remarks.  Rt Hon the Baroness Neville-Jones, Vice-Chair, All-Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions provided introductory remarks on the importance of policy changes for individuals with a rare disease, their families and carers, together with and short biographies for individuals.
9.05 - 9.35         The future for rare diseases policy in England and implementing the National Genomic Healthcare Strategy Professor Dame Sue Hill, Chief Scientific Officer, NHS England
Prof Dame Sue Hill provided an excellent update on genomic developments in England, setting the policy context including:
  • The English rare disease strategy is linked to the UK government commitment to genomics through the NHS Long Term plan for the next 10 years.
  • The estimate is 1/17 people will have a rare disease at some point in their lives; based on her work, she believes this is an underestimate and there is more unmet clinical need.
  • Building on the success of the 100,000 genomes project (122,395 samples processed, 112,198 genomes sequenced, 86,944 results provided to date with 20-25% actionable findings for rare disease where previous genetic testing did not identify a causative variant).  For some conditions there was a one in two diagnostic rate.  The UK is moving towards generating more accurate, rapid genetic diagnoses for rare disease, at the same time generating a large anonymised database of genomics for research – 1 million individuals.  The current commitment is for the English Genomic Medicine Service to sequence 500,000 whole genomes by 2023/2024 in partnership with Genomics England - mostly for rare diseases.  There is also a bold 'wish' to sequence 5 million genomes, but that includes WES data and high density arrays / panels.
  • All children with cancer and all seriously ill children with a suspected genetic disease will be offered WGS in England.
  • Supported by the UK government commitment to the Life Sciences Industry Strategy the complementary ADD (accelerating Disease Detection) project provides significant opportunities for risk profiling of patients (etc) by providing high density genomics information linked to health and social care data for 5 million individuals.
  • NHS Genomic Medicine Service – national approach to patient consent, PPI and strong ethical framework, common national standards, consolidated national genomic laboratory network (seven genomic laboratory hubs, with quality at their core, driving rapid adoption of technology; gene panel consensus to whole genome sequencing), partnerships across local providers to support frontline delivery of services, single national testing directory, national genomic knowledgebase (de-identified) for research towards mainstreaming genomic medicine from identifying disease predisposition and surveillance to new markers of changed disease.
  • The new national genomic infrastructure from pre-diagnosis to ongoing research for new discoveries. This includes repurposing national genetic counselling services to align with the new national genomic infrastructure.
  • Rapid genome/exome sequencing for acutely ill children with a likely genetic diagnosis (NICU/PICU) commenced on 1st Oct 2019 with results for ~90 patients submitted to date issued in mean of 9 days with ~40% diagnosis rate enabling optimised care protocols. 
  • Implementing a genomic future: Implementing reanalysis, additional findings, polygenic risk scores…retaining and building public trust, working within ethical framework, changing end-end pathways engaging health and social care professionals across the care spectrum.
  • Does not current account for epigenetics at present for a front-line test, but what the NHS genomic medicine service will do is look at multi-omic technologies from DNA->RNA->proteins etc.
9.35 - 9.45         Assessing the implementation of the UK Strategy for Rare Diseases and key
issues for patients Dr Jayne Spink, Chief Executive, Genetic Alliance UK
Dr Jayne Spink was unable to attend so a representative from GA described their commitment to empowering patients and patient organisations to transform the daily lives and future prospects of people affected by rare disease.  Care coordination is a challenge.  Trying to get a diagnosis and managing appropriate care caused negative mental health issues for more than ¾ of respondents affected by rare disease in their survey last year (no link provided).  Urgent need to focus on coordination of care with inter-agency collaborations.
9.45 - 10.40       Next steps for delivering specialised services for rare diseases: workforce and
training, patient engagement and co-ordinating care

Dr Robin Lachmann, Consultant, Metabolic Medicine, University College London Hospitals NHS Foundation Trust focused on clinical services for patients with rare diseases.  There are two routes to a new highly specialised service – one is a personal interest driving the development, through NICE, or as new treatment becomes available.  His primarily clinical interest is inherited metabolic diseases, which incorporates ~200 individual rare diseases, but together provides a sufficiently large patient base to develop a service with dedicated multidisciplinary teams.  Approximately half have adult onset, with paediatric patients are surviving longer, which means more referrals to adult services, more transition services required -> Lifelong diseases need lifelong services.  Commissioning is a challenge e.g. 200 patients with lysosomal storage diseases are commissioned in response to expensive enzyme replacement treatment, but all other inherited metabolic conditions are commissioned through other systems. We need more recognised, funded training of people across disciplines with strong investment in rare disease treatment and clinical services. 


Anneke Seller, Scientific Director, Genomics Education Program, Health Education England: (no slides).  Innovative digital resources to support learning and awareness raising around new diseases.  Understanding the baseline of current healthcare providers is necessary to rapidly address unmet training needs by developing new resources to provide appropriate postgraduate education.  Flexible online and blended learning approaches for education throughout training and diseases.  There is a lack of appropriate educators in this area, particularly in genomic bioinformatics.  There are 175 places funded on a variant identification course this year to support ‘local’ diagnoses, with nurses funded on a residential course.  Continuing to build genomics knowledgebase with new MSc courses etc.


Sara Hunt, CEO, Alex, The Leukodystrophy Charity: Despite limited treatment options, early diagnosis is key to success.  Challenges to get treatments commissioned cited due to lack of patient base, appropriate evidence given the limited numbers of patients diagnosed with specific conditions, lack of clinical knowledge and training with common misdiagnosis – more than half patients incorrectly diagnosed with average time of dx between onset of symptoms and dx more than six years.  There are few if any specialised services for LDs so there is no comprehensive / well communicated resource where non-experts can get support – this leads to massive impacts on patient lives and distressingly avoidable patient deaths. Patient group told ‘conditions are too rare to warrant a guideline or service’. Patients told by doctors they may have to ‘educate healthcare professionals yourself’


Angela McFarlane, Senior Market Development Director, UK and Ireland, IQVIA: There is much still to do, but the UK is finding a way forward for orphan medicine access in the UK.  There are challenges integrating recent evidence-based clinical intelligence systems with NHS digital.  There are more than 50% of medicine approvals in the US and Europe for rare disease – but access down the line are challenging due to the small numbers of patients affected to provide ‘sufficient evidence’ and supply chain of rare drugs.  Considering time to market, NICE (England) and SMC (Scotland) take roughly the same amount of approval time from EMA, but they both take longer for orphan vs non-orphan drugs.  The creation and iteration of dedicated orphan drug review processes had a significance impact in England.  Call for a new approach where there is a price agreed with NICE and NHS England so that new orphan drugs may be available for up to 3 years to allow gathering real world evidence during this time period; such approaches are already being used in other countries and on a very limited basis in England.


Note from the floor 1: clinical scientist apprenticeships are still under discussion

Notes from the floor 2: Many individuals commented that specialised services for rare disease(s) are often developed by individuals with a specific interest in a rare disease with no funding resources / dedicated support provided – this is a major challenge if / when the clinician is no longer available or when patients transition from paediatric –> adult –> elderly care teams.  Several clinicians report daily battles with their Trusts who wish to withdraw services – no financial support for even clinical time, no admin support, no infrastructural support…there is so much work and time required to make individual specialised clinics happen.  The development of ‘rare disease centres’ are essential where clinicians can access clinical space, diagnostic services, counselling support, and nurse specialists across rare disease teams.

Note from the floor 3: Beverly Searle from Unique commented that appropriate supportive care coordination is required for beyond the health service.  Their charity’s experience is that there is often an absolute lack of recognition for new chromosome diagnosis, particular for social services and education services where there is often a dismissal to parents and patients that these conditions exist.  We need to get the message out to the public and service providers that these conditions are real and must be managed appropriately.

Note from the floor 4: Major need for investment to incentivise research and development for rare diseases.

Top tips from the panel to maximise care:

  • Go to the national institute for healthcare excellence – the number of rare disease trials in the NIHR network is growing rapidly – and ask if there is a clinical trial ongoing – evidence shows that patients on clinical trials have better outcomes.
  • Individual patients or patient carers needs to be well informed, very articulate, and pushy! The power of community peer support and advocacy is unparalleled.

 Summary by Chair: none as thoughts already provided and short on time.

10.45 - 11.10    Coffee
11.10 - 11.15     Chair’s opening remarks: Alex Sobel MP emphasised that policymakers need the evidence to progress informed change.
11.15 - 11.25    Priorities for rare disease research: investment, collaboration and innovation
Dr Larissa Kerecuk, Rare Disease Lead and Consultant Paediatric Nephrologist, Birmingham Women’s
and Children’s NHS Foundation Trust and Clinical Research Speciality Lead, Paediatrics, National
Institute of Health Research Clinical Research Network West Midlands

Emphasised that the rare disease definition affects 1/2000 persons or less with >8000 rare diseases, Many affect multiple organs, 75% affect children, sadly 1/3rd children die before 5th birthday.  Only 10% of rare diseases have any treatment - from those 10%, over the past 20 years from FDA and EMA 60% of the new medications have approved as orphan medications with adult only licenses.  Started with families, patients, and clinical team workshops with areas of most need identified as diagnosis and emergency treatments, particularly when presenting at ‘new’ hospital.  when they started designing the Rare Disease Centre, they didn't know how many patients with rare diseases we had as NHS doesn't collect that type of data; all patients are now recruited to their rare disease registry.  Patient challenges include, diagnosis, information and support, coordination of care (main focus and driving force behind rare disease centre), being the expert patient / parent, transition of children to adult services.  Patients told their story and Birmingham raised charitable funds (and more) to develop the first rare disease centre.  Rare disease patients are very keen on research – research active hospitals often have better outcomes.  Over 7,000 patients from Birmingham recruited as part of 100,000 genomes project.  NIHR Stars Together rare disease registry (patients made the logo) including national history, incidence, developing patient care with a ready cohort interested in future research studies.  Rare disease service delivery including CONCORD with many clinical trials ongoing where research is embedded with routine clinical care.  Recently joined the IQVIA paediatrics and rare disease network.  Also working on NIHR Children and Young People MedTech Co-operative to develop new medical technologies and to provide evidence on technologies already available.  Investment for rare disease research is vital from infrastructure and protected clinical time, alongside more paediatric studies.

11.25 - 11.35    Utilising genomics and personalised medicine in diagnosis and treatment Dr Richard
Scott, Clinical Lead, Rare Diseases, Genomics England

Rare diseases have major challenges for diagnosis, but considerable progress has been made in recent years with 13 NHS genomic medicine centres covering more than 90 hospitals across England; Northern Ireland, Scotland and Wales also participate.  The 100,000 genomes project was a transformational research project embedded within the NHS to build an infrastructure for mainstreaming genomic medicine in the UK. Progress to date slighted updated to 122,945 patient samples processed, 119,286 genomes sequenced, 73,812 rare disease results send to GMCs; 26% actionable findings for rare disease (data from 07/12/19) with hearing and eye disorders achieving 40-50%.  Primary clinical data and secondary data is available in the protected research environment for 94,285 participants.  Several cases were presented to highlight successful approaches within this project.  WGS allows diagnosis in an increasing proportion of families with rare disease; this brings many benefits, but there is much to be done.  In his clinic at GOSH, often they have real successes in obtaining accurate diagnosis, but there is a lot of room for improvement in terms of what happens next…We need to ensure we get better at making diagnoses and improving surveillance, prevention, and treatment where possible.  A mix of policy, commissioning and education is required alongside the laboratory and clinical developments.

11.35 - 11.45    Improving access to medicines for rare diseases Richard Eaton, Rare Conditions
Franchise Lead, Roche
There will be a plan out for consultation in the near future for accessing rare disease orphan drugs in the UK – please get voices heard to improve access to medicines for rare diseases.  Managed access agreements are very helpful with ‘evidence uncertainties’ for rare disease drugs, but are only available for selected rare disease drugs at present.  Collaboration and transparent negotiation are critical to improve access to medicines for rare diseases.
12.05 - 12.20    The role of NICE in improving treatment for rare diseases: cost effectiveness,
value and evaluation Helen Knight, Programme Director, Technology Appraisals and Highly Specialised
Technologies, NICE
12.20 - 12.35    Next steps for specialised commissioning: funding, integration and reducing
variation Dr Ayesha Ali, Medical Advisor, Highly Specialised Services, NHS England
Dr Ayesha Ali explained how NHS England commissions services for rare diseases, including treatments and future innovations.  For example, the 'rare disease insert' is a new innovation that NHS England is using to quality assess rare disease services - this includes a contractual obligation from 2019 to self-report in three areas asking about care coordination, an alert 'card' (might be a passport, letter, wristband etc), and transition plans from paeds to adult services.  There is a dedicated policy team for commissioning new treatments that runds through from initial proposals to prioritisation of new drugs.  New framework for the rare diseases strategy being developed and we're at the start of the evolution for rare disease therapies.
A question was asked about NHS endorsement on alert cards, but unfortunately was not answered.  


Text from NI incorporated to the main policy briefing: “While we acknowledge this Westminster Health Forum policy conference was focused on rare diseases and specialised commissioning in England for genomics, research and access to medicine, what is commissioned in England is often implemented in Northern Ireland. We have an active research participant engagement group and strong voices from rare disease patients, families, and carers across Northern Ireland; with more than 1,000 respondents to individual consultations we are committed to empowering individuals living and working with rare diseases. Top-ranked short-term priorities requested by our NI rare disease community include (1) improved diagnosis; (2) a rare disease registry; (3) better accurate, reliable information for health and social care support ideally provided through a central web portal / online information hub supported by a rare disease coordinator(s); (4) improved coordination and transparent models of care that includes provision of reliable, disease-specific information, recognises contributions from expert patients / families, and is sufficiently flexible to include accessing multidisciplinary care from experts who may be geographically distant; (5) facilitated access to research; and (6) training and education of health and social care professionals for generic rare disease facts with links to experts in specific rare diseases. Recent quantitative and qualitative research focused on carers of individuals with a rare disease dramatically highlights that 100% of participants described caring having a negative impact on their mental health; a good care package and a single resource signposting carers to established pathways, useful resources and personal support would help relieve many hours (and often weeks!) of frustration. We need to maximise opportunities across the UK by working collaboratively and constructively with a multidisciplinary approach to build on recent developments and truly drive forward improvements for rare diseases”. Dr Amy Jayne McKnight (Rare Disease Research Lead, Queen’s University Belfast) & Samuel Robinson (Rare Disease Patient, Carer & Director of the Northern Ireland Rare Disease Partnership)"

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Dr AJ McKnight
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