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Rare genetic diseases – what’s in store for 2021?

Why personalised medicine based on our own genomes is the future of healthcare

Novartis HQ in Basel, Switzerland

Who would have predicted a complete worldwide shutdown in 2020?

The world came to a halt, literally, as COVID-19 rapidly spread across the globe. It was a tough year for many industries. Global economies have suffered, but in some areas the pandemic has also been a wake-up call, as COVID-19 has necessitated and accelerated change.

The healthcare industry especially faced its fair share of disruption in 2020. With borders shutting down, some companies had to pivot their manufacturing and shipping processes to ensure patients were still able to receive treatment, find new and innovative ways to maintain care standards and provide information to healthcare professionals digitally.

In the UK, the looming Brexit sparked new models of regulatory approval and fast-track opportunities, as recently observed in the rapid approval of Pfizer’s COVID-19 vaccine.

Most importantly, we have still been fortunate enough to witness medical and scientific breakthroughs, helping families marked by devastating diseases to find new hope and seeing reforms to the healthcare system to provide the best possible care to patients.

To sum up, it was a ‘year of firsts’ that demonstrated how the face of healthcare is ever- changing. One can only wonder what 2021 has in store for the industry.

Gene therapy will continue to evolve

Gene therapy is a truly exciting field. There have been numerous breakthroughs in recent years, which have made it clear that personalised medicine based on our very own genomes is the future of healthcare.

My vision for healthcare is that we learn to fix defects of the human body on the most basic level and prevent any disease resulting from genetic mutation, at its root. The promise of gene therapy is that it is designed to do exactly that – address the underlying, genetic root cause of a disease.

If gene therapy becomes an option for more diseases, particularly those that are rare and currently untreatable, then those diseases could be treated with just one single administration, changing lives and our approach to healthcare management forever.

So, what can we expect in 2021?

There is no denying the huge unmet need for effective treatments that can help patients with rare genetic diseases. In 2021 we can expect more clinical studies that produce meaningful data, more advanced research and an increase in drug approvals that offer truly innovative treatment options.

It has taken 30 years for gene therapy to evolve from being just a concept to being used in clinical settings and even marketed commercially.

This area is still in its early stages so there remains a lot to learn, and there will no doubt be hurdles along the way. However, the door has opened and many more are starting to realise the true potential that different types of gene therapy offer.

Like it or not, Brexit will disrupt the industry

Even with the deal that is in place, Brexit will cause a rippling effect that will be felt throughout the industry.

The pharmaceutical industry is one of Europe’s most important and fastest-growing industries, contributing 1.4% of the region’s combined GDP, and it is one that benefits greatly from EU integration.

According to a report by McKinsey, Europe has a bright future in this sector with its world- class research institutions, medical centres and hospitals. However, with the Brexit transition, those in the healthcare industry are scrambling to find out where this leaves the sector.

The UK is renowned for its medical research and innovation in many disease areas. When it comes to collaboration between Europe and the UK, the UK has shown itself to be a major contributor to numerous health-related programmes, platforms and networks, often working on EU-funded research projects.

The cross-collaboration has also brought forward fundamental changes and breakthroughs for the treatment of many rare genetic diseases.

Many areas in the industry are likely to be impacted by Brexit. The healthcare industry will need to react and adapt to changes in safety and regulatory processes, patient access to medicines, access to research, clinical trial recruitment and the supply of medicines across borders.

Digital health will be the new normal

Like many others, the healthcare industry is going through a digital transformation. The ramifications of COVID-19 have forced healthcare systems, which are often set in their traditional ways of working, out of their comfort zone to quickly adapt and modernise their work structures.

There have already been major advances in digital health technology that are advancing diagnosis or driving education. We have data- driven self-diagnosis through wearable devices which can monitor people’s vitals such as their blood pressure, oxygen levels or heart rate.

There is also the use of artificial intelligence that can diagnose patients in earlier stages of their disease and predict health outcomes. Understanding of genetics and DNA has come a long way, with labs around the world now using an individual’s genomic information to understand that individual’s risk of specific diseases so that person can make preventative lifestyle choices.

There are also advances in the use of virtual and augmented reality to educate healthcare professionals and patients about diseases and to aid in patient care, tackling issues such as loneliness and isolation, for example, by virtually connecting immobile patients with the outside world.

In 2021, I expect there to be an increase in digital health solutions on the whole but particularly in rare genetic disease areas. We’re looking at digital advances that would improve access to treatment and the overall patient experience. In

rare genetic disease research, there may be a way to apply Bayesian models to analyse historic data to accelerate the research process. We may be able to firmly establish genomic profiling to accelerate the diagnosis of rare genetic diseases.

Digital technology will also play a big part in clinical trials, from improving the recruitment and retention of participants to potentially reducing the costs of clinical trials in the long term.

Looking beyond purely digital changes, in a lot of countries, healthcare systems have had to rethink how they approach drug approvals and innovate their reimbursement pathways to allow faster access to potentially life-saving medicines, a vaccine for COVID-19 being a prime example.

In my opinion, these new pathways will establish themselves and be extended to other treatments, including cell and gene therapies.

We can all agree that 2020 was an unprecedented year for the healthcare industry. COVID-19 may have brought the world to a standstill last year, but the science hasn’t stopped.

In 2020 we saw breakthroughs for the treatment of many diseases, with over 76 positive opinions granted by the EMA. So far the Pfizer/BioNTech, Moderna and AstraZeneca/Oxford University vaccines have all received approval in the UK and other countries for the very disease that put all these changes into motion.

Many doubted that an effective vaccine for COVID-19 could be developed and approved for use by the end of 2020, yet here we are. It is moments like this that make me excited to see what medical breakthroughs and milestones we’ll witness in 2021 and beyond.

Mike Fraser is General Manager, EMEA at Novartis Gene Therapies

16th February 2021

Mike Fraser is General Manager, EMEA at Novartis Gene Therapies

16th February 2021

From: Research

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