Westminster Health Forum

Improving outcomes for rare diseases in England - research and treatment, specialised commissioning and access to medicine

Morning, Thursday, 9th January 2020

Central London


This seminar will discuss improving outcomes for rare diseases in England - looking at research and treatment, specialised commissioning, and access to medicine.

Delegates will examine the progress of the UK Strategy for Rare Diseases, following the publication of the Department of Health and Social Care’s 2019 update to the implementation plan for England and policy priorities moving forward from 2020, when the strategy is due to end.

The seminar also follows the publication of NHS England’s update to its implementation plan, and we expect discussion on ensuring collaboration between stakeholders to deliver the ambitions of the twin implementation plans.

Attendees will also assess any barriers to progress so far - including the impact of Brexit on the UK’s participation in European Reference Networks, medicines regulation and on collaboration and knowledge-sharing.

Delegates will discuss government initiatives aimed at improving diagnosis and treatment for rare diseases, including:

Planned sessions will consider the priorities for scaling up to meet these ambitions and their impact.

We also expect discussion on what further measures might be necessary to roll out genomic testing - such as ensuring the workforce has the right training and skills, developing digital infrastructure in the UK, and key issues for managing patient data and ensuring public trust.

Priorities for training in genomics for healthcare professionals across all levels, following the extension of funding to 2020 for the Genomics Education Programme will also be assessed - including progress of key aims to develop strategic collaborations to deliver the Genomic Medicine Service for the NHS.

We expect discussion on the next steps for improving the delivery of care for rare diseases and commissioning specialised services - including allocating long-term funding, integrating specialised services with wider pathways of care and reducing variation in the quality of services at a local level.

It follows plans to implement a set of provider criteria for services treating patients with rare diseases - including ensuring that there is a person responsible for co-ordinating the care of patients with rare diseases, providing patients with an ‘alert card’ containing information about their condition, and improving the transition from paediatric to adult services.

Delegates will also consider the key issues for improving access to medicines for rare diseases, with discussion on managing the affordability of medicines for rare diseases and overcoming regulatory challenges for accelerating the uptake of innovative treatments and maintaining access.

The conference will be an opportunity to assess the impact to industry and patient access following the Government’s decision to charge for NICE technology appraisals and highly specialised technologies, which came into effect in April 2019 - as well as the introduction of the voluntary scheme for branded medicines pricing and access in December 2018.

Further sessions will consider the priorities for research into rare diseases - including supporting collaborative working between researchers, service providers and patients, translating research into best practice and looking at the opportunities for innovation to improve outcomes for patients. It follows the creation of the BioResource for Translational Research in Common and Rare Diseases, which is set to improve collaboration in research.

Keynote Speakers

Professor Dame Sue Hill

Chief Scientific Officer, NHS England

Dr Jayne Spink

Chief Executive, Genetic Alliance UK

Dr Richard Scott

Clinical Lead, Rare Diseases, Genomics England

Keynote Speakers

Professor Dame Sue Hill

Chief Scientific Officer, NHS England

Dr Jayne Spink

Chief Executive, Genetic Alliance UK

Dr Richard Scott

Clinical Lead, Rare Diseases, Genomics England


Alex Sobel MP

Officer, All-Party Parliamentary Group on Rare, Genetic and Undiagnosed Conditions

Rt Hon the Baroness Neville-Jones

Vice-Chair, All-Party Parliamentary Group for Rare, Genetic and Undiagnosed Conditions


Richard Eaton

Rare Conditions Franchise Lead, Roche

Sara Hunt

Chief Executive Officer, Alex, The Leukodystrophy Charity

Angela McFarlane

Senior Market Development Director, UK and Ireland, IQVIA

Prerana Issar

Chief People Officer, NHS England and NHS Improvement

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

Dr Robin Lachmann

Consultant, Metabolic Medicine, University College London Hospitals NHS Foundation Trust

Dr Anneke Seller

Scientific Director, Genomics Education Programme, Health Education England

Helen Knight

Programme Director, Technology Appraisals and Highly Specialised Technologies, NICE