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Rare Disease Day: Think Rare First

From Left to Right: Simon Meadowcroft, Medical Director, Takeda UK and Meg Willis, parent of Edward Willis-Hall a child with spinal muscular atrophy (SMA) and recipient of gene therapy, Zolgensma

This rare disease day, Chamber commissioned a special episode of Innovating Healthcare to discuss the publication of the new Rare Disease Action Plan in England and speak to people impacted by rare conditions.

On this episode’s panel are:

  • Professor Mike Bewick, Former Deputy Medical Director, NHS England (Chair)
  • Lauren Watson, Rare Diseases Lead, Department of Health and Social Care
  • Meg Willis, parent of Edward Willis-Hall a child with spinal muscular atrophy (SMA) and recipient of gene therapy, Zolgensma
  • Professor Joanne Hackett, Head of Genomic and Precision Medicine, IQVIA
  • Simon Meadowcroft, Medical Director, Takeda UK
  • Lauren Roberts, Joint Interim Chief Executive and Director of Engagement and Support, Genetic Alliance UK

Given his experience of working in rare disease policy including the introduction of the 2016 Rare Disease Strategy, former NHS England Deputy Chief Medical Officer, Professor Mike Bewick opened the panel with the personal story of Edward Willis, who was joined by his mum Megan in the studio. She outlined her story to gain a diagnosis for her son. Edward was diagnosed with Spinal Muscular Atrophy (SMA) at 11 weeks old and as parents they had identified symptoms at four weeks. In a harrowing story, Megan explained that as parents they took Edward to the GP where he was given a clean bill of health, but at seven weeks Edward went into respiratory arrest and was revived by her partner in the back of a car.

Following this incident, Edward went into a coma at a specialist centre and subsequently diagnosed with SMA. He symptoms included rapid breathing and not being able to hold up his head. Despite the extreme symptoms displayed Megan said that this was a relatively fast diagnosis. Unfortunately, there are many parents who must wait months, if not years to find out what is wrong with their children.

Watch full video here.

What is a rare disease?

Turning to defining what a rare disease is, Policy Lead for Rare Diseases at the Department of Health and Social Care (DHSC), Lauren Watson said that it is defined as a condition that affects one in two thousand people and an ultra-rare disease is one impacting one in a million people. It is surprising to many that rare diseases affect around 3.5million people in the UK, or one in 17 people in their lifetime. Reinforcing the point, Professor Bewick said, “a diagnosis for rare disease is not that uncommon.”

“That is why it is so important that people with a rare disease receive the support they need through the Rare Disease Framework and Action Plan in England,” said Watson. The DHSC has been engaging with patient groups to better understand the requirements of the community and the patient community has warmly welcomed this hard work.

Later in the discussion, Watson highlighted that “a good diagnosis is not only fast,” but one where the patient is “supported throughout that diagnostic journey.”

Head of Genomic and Precision Medicine at IQVIA, Professor Joanne Hackett said that the reason why more people are being diagnosed with a rare disease is because of advancements in the data that we now hold in respect of specific conditions. Unless there are a sizeable number of reference points, it is extremely difficult to find patterns of repetition and thus diagnosis. Professor Hackett added that there are now great pharmaceuticals and the acceleration of genomics has transformed patient lives.

Embedding the patient voice:

Medical Director at Takeda UK, Simon Meadowcroft highlighted that the Covid-19 pandemic has transformed the image of the life sciences sector amongst the public. In an upbeat assessment, he thinks that things are getting better for patients as more treatments are being developed.

However, he advised that “we need to accept that many patients are passed from pillar to post, with many waiting years for a diagnosis. When patients get a diagnosis, some find that there are no treatments for them.” It is still the case that 95% of those diagnosed with a rare disease find that there is no licensed treatment out there. He said that new treatments cannot be developed without the partnership of healthcare professionals, who help identify the patients, design and run the trials.

Regulators, payers and the pharmaceutical industry have become much more aware of the need to engage with patient groups to identify the real world evidence that help to improve the development of new treatments.

Supporting this point, Professor Hackett emphasised that one of the benefits of the pandemic is that people are much more aware of their own health, “contributing outcome measures is so important.”

Highlighting the importance of the patient voice in the design of those trails, Joint Interim Chief Executive and Director of Engagement and Support at Genetic Alliance UK, Lauren Roberts said it is important for people to be involved as early as possible to help develop a clinical trial.

“The more you involve patient groups right from the start, the more the trial is likely to be successful,” said Roberts.

DHSC’s Lauren Watson pointed out that the Action Plan published on Rare Disease Day, embeds the patient voice and is designed to ensure that measures are created to assess the benefits of policy change to the rare disease community. In an extremely positive move, the policies set out in the Action will be measured to see how they can be implemented in a way to best improve the lives of patients living with a rare disease.

Newborn Screening:

Genetic Alliance partnered with ITN Productions to co-produce a special film Shining a Light on Rare Conditions for Rare Disease Day. The episode looked at SMA and specifically focused on the need for newborn screening to be expanded in the UK – something promised in the Action Plan.

The film also looked at the advent of genomics and how big data has brought significant hope to parents seeking a diagnosis. Commenting on the usage of big data to discover new treatments, Professor Hackett said that the reason we are seeing a positive change is that more healthcare systems are thinking about newborn screening programmes and the collection of real world data. Agreeing with Simon Meadowcroft, Professor Hackett stressed that real world data helps to improve diagnosis.

One of the key priorities of the Action Plan is faster diagnosis and to achieve this, there is a need to improve decision making when it comes to newborn screening. To achieve this, Lauren Watson said there is a need to improve evidence gathering and that the NHS is looking at genomic technologies for screening all newborns. To manage expectations, Watson did suggest that it is not all about screening, some people are still waiting for that all important diagnosis. Therefore, Watson said that systemic improvements should not be forgotten, such as the clinical interface that Genomics England is working on that will be fed back into the NHS to improve diagnosis.

Developing new therapies:

As one of the world’s leading pharmaceutical companies specialising in the development of medicines for rare disease patients, Medical Director at Takeda, Simon Meadowcroft welcomed the considerable progress that has been made.

Once the basic science is understood, the development of the therapy for the patient can commence. Gene therapy, for example is a vast area of discovery. He said, “advances in diagnostics and applying them earlier is critical,” for example panel testing is becoming more important as it allows the clinician to choose which treatment is best for the patient.

In response, Professor Bewick highlighted the difficulty in bringing a treatment to patients because of the slow process of trials and regulation, but he also offered hope; there is an appreciation of how difficult the landscape can be to navigate. Lauren Watson stressed that the DHSC and NHS England have been trying to map the pathways and checked through the geographical inequalities to ensure access is “rapid, but also equitable.”

In support, Professor Hackett said, “there is going to be a demand from citizens for faster access” and as a result of better utilisation of the data, “we are moving towards a much more ambitious society.”

IH Panel e1646751501254
From left to right: Professor Mike Bewick – Former Deputy Medical Director at NHS England, Lauren Roberts – Joint Interim Chief Executive and Director of Engagement and Support at Genetic Alliance UK and Professor Joanne Hackett – Head of Genomic and Precision Medicine at IQVIA

NICE Methods Review – A lack of ambition?

Emphasising the concerns shared by industry, Simon Meadowcroft suggested that to date there is “a lack of ambition” in the NICE Method’s Review. However, there are some ‘wins’ for the rare disease community out of the Review including the ‘disease severity modifier’ that reflects the importance for funding treatments that have the greatest negative impact on peoples lives. He also said that given the value of treatments in rare diseases is harder to ascertain than common conditions, due to small patient numbers, there is an aspiration for NICE to be more “flexible” in the face of uncertainty.

As an extension of the Cancer Drugs Fund, the Innovative Medicines Fund (IMF) means there is now a mechanism to have medicines to be funded post-licence. This enables more data to be collected for longer to help prove the outcome. However, there is a concern that if NICE declines an approval, small biotech firms are going to be left with significant risk in having to fund a medicine for a whole lifetime. Meadowcroft warns that this may put industry off developing new rare disease products and introducing them in the UK.

Education and Training:

Citing her own experience as a mum to Edward, Megan Willis called for improved training of NHS practitioners across the system. This will have the benefit of enabling clinicians to notice the warning signs much earlier, thus improving outcomes. In response and as a former GP Chair, Professor Bewick said that it is important for a clinician to know that if there is a question they cannot answer, a referral should be made to a specialist. He says that by improving a referral pathway, this “may lighten the load” on healthcare practitioners.

Recognising that healthcare practitioners cannot be experts in 7000 conditions, the Action Plan presents a set of digital tools for clinicians – developed in partnership with Health Education England. Lauren Watson explained that Health Education England is looking at what needs to be included in the curricula. A new online hub went live for Rare Disease Day, helping clinicians to gain more information.

Industry also has a role to play when it comes to improving education and training. Takeda is partnering with Medics 4 Rare Diseases to plan better training for doctors. They are also working with the healthcare system to redesign services to help patients through the system.

There is life after a diagnosis:

Concluding this insightful episode, Megan finished on a positive message that “there is life after a diagnosis,” especially with innovative technologies and gene therapies. Giving the example of her own son, Edward was given a life expectancy of two years and gene therapy has given him a future. Whilst there is much more hope given the structures that exist, Lauren Roberts highlights that the patient has still got to get there. On behalf of the patient group, she called on the whole system to “think rare first.”

Professor Hackett highlights the importance of collaboration – sharing information and access to real world data and Simon Meadowcroft said that the last 20 years has shown that investment in treatments for rare diseases can yield a “steady stream” of life transforming therapies.

Lauren Watson’s final message was “thank you” to the whole rare disease community that has contributed to the creation of the Rare Disease Action Plan. She said, “we have been humbled and privileged to listen to the stories of people living with rare conditions” and the DHSC will do all they can to ensure that the Action Plan makes a difference to peoples’ lives.

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