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  1. Spotlight
31 May 2019updated 08 Sep 2021 2:36pm

Embracing a new era of healthcare

Government and industry must work together in order to support the rollout of new gene therapies.

By Owen Marks

Sixteen years ago, the first ever human genome was sequenced1. This major milestone enabled scientists to further understand how they could diagnose and treat genetic disorders. Fast-forward to 2019 and we are seeing these developments being applied to acceleration in the research and development of treatments for patients with rare diseases.

This progress in scientific research is incredibly exciting and offers great potential, but with a growing population and financially strained NHS, how do we all work together to ensure our healthcare system can embrace innovation and enhance our understanding of what patients need and want from their care? Where I work, in rare diseases, getting this right is incredibly important.

I’m often struck by how many of us know someone who has a rare disease. That’s because, despite rare diseases being individually rare, collectively, their impact is widespread with estimates suggesting that 3.5m people in the UK will be will be affected by a rare disease at some
point in their lives2. And each day we’re continuing to learn and discover more, with around five new rare diseases described in medical literature each week2. Of the 7,000 known rare diseases, almost 6,000 are genetic diseases3.

Gene therapy is a scientific development that offers much potential to patients with rare genetic conditions. It is an experimental technique that can target these rare diseases and fix the “faulty” genes that cause illnesses4. But unlike other treatments, which often require frequent administration and focus on managing symptoms and disease progression, gene therapy aims to provide one-off, personalised treatment. This could help to reduce the strain on the healthcare system by minimising the potential of intensive long-term patient care, reducing inpatient stays and helping people who were previously too ill to play a more active role in society.

Often for patients with rare diseases, getting a diagnosis can be one of the biggest obstacles. On average, rare disease patients in the UK wait around five years from onset of symptoms to receiving an accurate diagnosis5. The UK has really led the way in addressing the “diagnostic odyssey” that exists for patients, through its 100,000 Genomes project and the recently announced launch of The National Genomic Healthcare Strategy, which will encourage the genomics community to work together to make the UK the global leader in genomic healthcare6.

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While these hard-fought scientific advancements strengthen the UK’s research and diagnostic capabilities, and most importantly provides a diagnosis and hope for patients, it’s only one half of the journey.

We must also look at how we can reduce the bench-to-bedside time lag that too many rare disease patients experience in accessing innovative treatments.

Currently, our systems are geared to dealing with more common conditions, or at the opposite end of the spectrum, conditions that are considered very rare – with many rare disease patients falling between the margins. Industry, patient groups and clinicians will need to come together to work collaboratively with NICE and the NHS in building up a more long-term view of the value these new treatments bring to patients, the NHS and society.

But for me, the most crucial part is to place the patient voice, and their experience, at the centre. Only patients experience the entirety of the clinical and care pathway and this experience should play a key role in helping to ensure we have a modern healthcare system that continues to support their needs.

If we can capture the experiences of patients with rare diseases, we can understand how well or badly they negotiate and navigate the care journey and the role early access to treatment has on this experience.

More broadly, in the future, personalised healthcare will not just apply to rare diseases, but more common conditions with larger patient cohorts, who will also benefit from personalised diagnostics and treatments. It will become the new normal in how healthcare is delivered.

I strongly believe we’re on the cusp of a new, innovative and exciting approach to delivering more responsive and personalised treatment. This was recently brought home to me when I saw a presentation on phase 1/2 clinical programme for a possible gene therapy for a rare and serious condition suffered by the daughter of a good friend of mine. Whilst the research and development process is notoriously fragile, it showed the huge potential of this new era in medical science.

The people and patients who could potentially benefit are our families, our friends and possibly even ourselves. There is a real opportunity to place the patient voice at the centre to better understand how we need to adapt our systems to ensure they are ready to embrace this new era of personalised healthcare for the millions of patients who could benefit. The first step is for the NHS, NICE, patient groups and industry to all come together.

At Pfizer, we truly are committed and passionate about playing our part.

Owen Marks is the rare disease lead at Pfizer UK.

1.… (Last accessed May 2019)

2. (Last accessed May 2019)

3. (Last accessed May 2019)

4. (Last accessed May 2019)

5. (Last accessed May 2019)

6.… (Last accessed May 2019)

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