Commons Sense

House of Commons · Westminster Hall

UK Rare Diseases Framework

24 March 2021 · 16 other contributors · 9,149 words

Opened by Liz Twist Lab Blaydon and Consett

Responding minister: Nadine Dorries

NHS

Summarised by AI from the official record, so it can contain mistakes.

Read the full transcript on Parliament.uk

At a glance

Liz Twist raised concerns about uk rare diseases framework in Westminster Hall. A government minister responded.

Key points

  • Ms Liz Twist raised concerns about delays in diagnosis and inadequate access to treatments for individuals with rare diseases.
  • The genetic alliance UK estimates that rare diseases account for about one-third of infant mortality in the UK.
  • Ms Twist asked the government to increase the scope of newborn screening and improve access to genomic medicine services.

Key requests to Government

Ms. Twist asks the government to evaluate what happened with the previous strategy and confirm whether the Department of Health and Social Care will report on its outcome. She urges the Minister to increase the scope of newborn screening, improve access to genomic medicine services, track patients stuck on the diagnostic odyssey, monitor equitable testing access, provide rare disease alert cards, mainstream care coordination within NHS, address challenges during transitions between care services, measure success in improving awareness among healthcare professionals, and ensure inclusive consultation for the English action plan. The hon. Member for Blaydon asked the Government to continue working with stakeholders to ensure that treatments such as Kuvan are priced affordably so that more patients can benefit from them. She also requested that the Department further consider how better to integrate targeted screening of high-risk groups into population-based screening programmes.

How the debate unfolded

MPs spoke in turn to share their views and ask questions. Here's what each person said.

Opened the debate

Liz Twist Lab Blaydon and Consett

Ms. Liz Twist is concerned about the challenges faced by individuals with rare diseases, including significant delays in diagnosis, lack of newborn screening for many conditions, and inadequate access to treatments such as gene therapy for spinal muscular atrophy. She highlights that around one in 17 people will be affected by a rare condition during their lifetime, and about 70% of these cases start in childhood and are lifelong. The genetic alliance UK estimates that rare diseases account for approximately one-third of infant mortality in the UK. The hon. Member for Blaydon expressed concern about the current issues faced by patients with rare diseases, particularly regarding access to treatments such as Kuvan for those affected by PKU. She highlighted that while NICE's draft guidance on Kuvan is a step forward for children under 18, it poses challenges for adults who reach adulthood without continuous treatment options. Additionally, she raised concerns about the integration of targeted screening for high-risk groups and the need for more personalized screening offers through technological advancements.

Other contributors (16)
  • Alex Norris Lab Co-op Nottingham North and Kimberley

    Mr Norris acknowledged the breadth of rare diseases discussed, from NF1 to PKU, highlighting that while each disease is individually rare, collectively they affect more than 3.5 million people in the UK. He expressed concern about the high mortality rate among children with rare diseases and questioned the Government's plans for newborn screening, advocating for an increase in screening conditions beyond the current nine. Mr Norris also raised issues around awareness, training for healthcare professionals, and the need for a family-centred holistic approach to care.

  • Andrew Lewer Con South Northamptonshire

    Motor neurone disease is a devastating condition with one third of patients dying within a year of diagnosis. Despite no cure, advancements in gene therapy research offer hope. However, Government funding for MND research has plateaued. The MP called for £50 million investment over five years to establish a virtual MND research institute focusing on drug discovery and clinical research.

  • Bambos Charalambous Lab Southgate and Wood Green

    The speaker emphasized the importance of NICE's approach in assessing effectiveness of drugs or treatments for rare diseases, criticized the inflexibility of discount rates, and urged NICE to consider patient testimony to better assess drug or treatment effectiveness.

  • Catherine McKinnell Lab Newcastle upon Tyne North

    Catherine McKinnell discussed the limitations of current rare disease treatment access, such as the age-specific recommendation for Kuvan medication. She emphasized the importance of patient voice in the UK Rare Diseases Framework and cited a case involving her constituent's daughters with CLN2 Batten Disease who received Brineura on the NHS.

  • Chris Skidmore Con Bromsgrove

    Chris Skidmore discussed the challenges faced by people with phenylketonuria (PKU), highlighting issues such as the strict low-protein diet required for treatment and the unavailability of Kuvan in the UK. He raised concerns about the NHS's preliminary recommendation to limit Kuvan use only for children up to 18, arguing that lifelong treatment is necessary.

  • Christina Rees Lab Neath

    Christina Rees spoke about the complexities of managing PKU and noted that many people are denied personal independence payment by the DWP due to their diet not being recognised as a therapy. She mentioned a legal challenge where a 21-year-old man was awarded £87.65 per week after his case re-examination found that his PKU diet qualifies as a therapy under PIP criteria.

  • Daniel Zeichner Lab Cambridge

    The speaker questioned the status of the life sciences industrial strategy and sector deal, inquired about initiatives supporting access to medicines for rare diseases, highlighted long delays and testing limitations due to resource constraints, and asked about progress on developing a rare disease trial protocol.

  • Kevin Hollinrake Con Thirsk and Malton

    Kevin Hollinrake highlighted the commonality of neurofibromatosis type 1 (NF1), affecting one in 2,700 people born today. He shared a case study from his constituency involving a constituent's son with NF1 who passed away after being told his tumour was cosmetic and non-worrisome when it later turned malignant. Hollinrake called for clearer pathways between non-complex and complex NF1 cases.

  • Liz Saville-Roberts PC Dwyfor Meirionnydd

    Liz Saville-Roberts underlined the necessity for proper planning and coordination in health systems due to the devolved nature of healthcare. She advocated for a Welsh action plan committed to joint working between nations, data sharing among rare diseases registries, and cross-border care coordination.

  • Maria Miller Con Basingstoke

    Reminded Members of the changes to the normal practice for hybrid arrangements, mentioned amended timings and suspensions between debates, instructed Members to arrive on time and remain throughout, warned Members participating virtually about their visibility and technical issues, reminded Members that masks should be worn except when speaking.

  • Marie Rimmer Lab St Helens South and Whiston

    Highlights the impact of NICE's decision to limit access to Kuvan to patients under 18, emphasizing the difficulties faced by young adults transitioning into adulthood. Shares personal testimony from a constituent with PKU who is concerned about losing access to treatment at age 18.

  • Marion Fellows SNP Glasgow North West

    Around 437,000 people in Scotland have a rare disease. The Scottish Government is committed to ensuring that patients with rare diseases receive the best possible care through various initiatives including a new action plan, establishing a rare disease implementation board and developing a national congenital anomalies register for Scotland (CARDRISS). They have also made significant progress in delivering genomics medicine and increasing access to medicines for rare conditions.

  • Mary Glindon Lab Newcastle upon Tyne East and Wallsend

    The rare diseases framework is welcome, but the MP highlighted challenges faced by those with muscle-wasting conditions due to the pandemic. A survey of over 400 responses showed issues such as halted diagnostic tests and clinical trials, difficulties in regaining strength after prolonged periods without physiotherapy, and reluctance to return to hospitals. The MP asked the Minister how action plans will address these issues.

  • Paul Bristow

    The speaker expressed concerns over the NICE process review consultation's suggestions regarding how new health technologies are evaluated, highlighting that the current criteria may stifle new medicines for rare diseases and urged NICE to avoid premature decisions on commercial aspects and pricing.

  • Peter Gibson

    Expresses hope for improved access to Kuvan for children with Phenylketonuria, while expressing concern over the lack of availability for adults. Acknowledges the impact on his constituents and calls for reconsideration by NICE.

  • Tom Randall

    Welcomes the UK Rare Diseases Framework, focusing on increasing awareness among healthcare professionals and improving access to treatments such as Kuvan for Phenylketonuria. Notes concerns over lack of availability for adults affected by PKU.

Government Response

Nadine Dorries

The Minister outlined several key points during her response, including addressing concerns about the treatment Kuvan for PKU patients. She noted that while NICE's draft guidance on Kuvan is a positive step forward for children under 18 years old, it may be disappointing for adults due to discontinuation of treatment support at age 18. The Government encourages continued collaboration between the company producing Kuvan and regulatory bodies such as NICE, NHS England and NHS Improvement to ensure affordability. The Minister also discussed ongoing engagement with stakeholders regarding the UK strategy for rare diseases framework, emphasizing that it builds on previous commitments made in earlier strategies. She highlighted initiatives like better use of technology to develop personalized screening offers, including genetic testing, inter-screening, and diagnostics. The Department has committed to making improvements through these advancements. In addition, the Minister mentioned the importance of integrating targeted screening for high-risk groups within population-based programmes as part of a screening improvement programme. She acknowledged the significant impact rare diseases have on patients and their families, noting that while individually rare, collectively they affect one in 17 people or approximately 3.5 million individuals in the UK.

Get updates like this by email
▸ Assessment & feedback
Summary accuracy