On Rare Disease Day, let's make a new promise to improve the lives of patients with severe genetic conditions

Posted On: 
28th February 2019

Rare Disease Day, celebrated on February 28, is an important annual reminder of the work carried out, all year round, by advocates across the UK to improve awareness of rare diseases and the challenges of living with them, says Nicola Redfern, UK General Manager, Bluebird Bio.

Bluebird Bio is developing investigational gene therapies for severe genetic diseases, with the hope that by treating the underlying cause, patients will see improved outcomes, says Nicola Redfern, UK General Manager, Bluebird Bio.
Credit: 
PA Images

Rare diseases are incredibly complex and present some of the greatest challenges to doctors and scientists today. As most rare diseases, around 80 percent, are genetic, directly caused by changes in genes or chromosomes, they can be passed from one generation to the next, affecting entire families. At Bluebird Bio, we have spent the last 15 years focusing on the potential of one-time gene therapy to tackle severe genetic diseases with a high unmet need.

The time for gene therapies is now. As little as one year ago, these technologies were viewed by healthcare systems as largely speculative and distant. After many decades of research, the scientific community is now close to being able to address the underlying cause of severe genetic diseases including certain types of blindness and blood disorders, where today, the patient's quality of life and prognosis are generally poor.

Gene therapy can, in some cases, bring the possibility of a one-time treatment with potentially lifelong benefit. With the decision from NICE in 2017 to reimburse the first gene therapy for UK patients, and the subsequent approval of two cell therapy cancer treatments in 2018, the conversation around gene therapy in the UK now needs to shift from "if and when" to "how".

The UK has in many respects led the world in its policy on treatment for rare and genetic diseases, with the publication of the UK Strategy for Rare Diseases in 2013, and the subsequent implementation plans for England in 2018, Wales in 2017, Northern Ireland in 2015 and Scotland in 2014. Furthermore, the extensive work that the Government and the Health Service does to support gene therapy as a treatment option for rare disease patients is evident in the establishment of Advanced Therapy Treatment Centres and the Cell and Gene Therapy Catapult.

What we now need is a more flexible and appropriate appraisal system to avoid delays and ensure equal access for patients, a position supported by the Cell and Gene Therapy Catapult. One of the commitments of the UK's Rare Disease Strategy was to ensure that there are "appropriate procedures for evaluating the costs and benefits of treatments for patients". In order to deliver on the Government's promise in England specifically, the way in which NICE and NHS England evaluate one-time genetic therapies that potentially offer long-term benefit for rare disease patients needs to be examined.

There are currently discussions ongoing about how to fairly assess gene therapies for rare diseases. NICE and NHS England should continue to work with industry to shape the landscape in the UK and see through the commitments of the Rare Disease Strategy. In return we, as industry, need to be creative, flexible and willing to share risk. As bluebird bio continues to advance the science of gene therapy, we are keen to work with all health system stakeholders to allow patients to be treated with these ground-breaking technologies. Let's make this Rare Disease Day a new promise to improve the lives of patients living with severe genetic conditions.