In 2003 the first human genome was sequenced.1 This major milestone enabled scientists to further understand how they could diagnose and treat genetic disorders. Now, sixteen years on, we are standing on the brink of a new era of innovation. But bringing this innovation to patients won’t be easy. For this to be realised it will require industry, Government, and the NHS all working in a renewed partnership to seize the opportunity and make it happen for patients.
Since I started working in the pharmaceutical industry over twenty years ago, I could never have imagined then how far we would come in advancing our science and medical innovation in supporting and treating patients. Where I work in rare diseases, this innovation has the potential to be most felt. Rare diseases are individually rare but collectively common, and their impact is widespread, with over 3.5 million people in the UK affected.2 Globally, of the 7,000 known rare diseases almost 80%, or 6,000, are genetic diseases.3
Gene therapy is one such treatment that offers so much potential to patients with rare conditions. It is an experimental technique that can target these rare diseases and fixes the ‘faulty’ genes that cause illnesses. Unlike other treatments which often require frequent administration and focus on managing symptoms and disease progression, gene therapy aims to fix what is not working and provide a long-term treatment.
For patients this could mean they no longer experience the debilitating symptoms their rare disease brings, and their life expectancy and quality of life could improve. For the NHS it could help to reduce the strain on the healthcare system and allow people who were previously too ill, to play a more active role in society.
Gene therapy and other new innovative treatments are symbolic of the great potential, but also the challenges we face. With a current healthcare system geared towards more common conditions, how do we rebalance it to deal with the generation of millions of patients with thousands of different rare diseases? For me, we need to set in place the right framework across the systems and pathways to enable patients to get the right treatment, at the right time, in the right way.
The critical first step is to come together in a renewed partnership. We have an opportunity to work together to future proof the ‘system’ by discussing the challenges and opportunities in bringing innovation, combined with the right care pathway for these patients. The NHS Long Term Plan has set in place some positive foundations for us to achieve this, but we now just need to ensure that these advancements in science and medical innovation, that have been hard fought, will be able to reach the patients that need them.
At Pfizer we’re committed and passionate about playing our part. There is a real opportunity here for us to embrace a renewed partnership and together deliver the treatment a generation of patients need.
- National Human Genome Research Institute. Human Genome Project FAQ Accessed Nov 2021.
- Global Genes. Rare Disease Impact Report (Shire, April 2013) Accessed Nov 2021.
- Global Genes. Rare Disease Facts Accessed Nov 2021.
PP-PFE-GBR-4229 / November 2021