Genomics will potentially transform how we are cared for and treated in the future, and is an area that every one of us should watch with interest.
Recently, Jeremy Hunt, the Health Secretary, reiterated the Government's vision for how the UK can become the first country in the world to routinely sequence people’s genomes and link to their electronic health records. This information, under strict governance to protect patients’ privacy, is hugely valuable to healthcare, for researching and developing new medicines. In the long run, with improved understanding of disease, it can be used to help make recommendations to patients for changes in their lifestyle and treatments to help them to stay healthy.
It is estimated that one in seventeen people are born with or develop a rare disease during their lifetime. At least 80% of rare diseases have an identified genetic component, with 50% of new cases of rare diseases being identified in children. It can take considerable time and expense between a patient first presenting at a doctors and receiving an accurate diagnosis. However, the time taken to sequence a whole human genome has been reduced to one to two weeks and will become more affordable for routine use as the price continues to fall. Through partial sequencing in research projects of affected children, or in infections such as HIV, TB and Hepatitis C, scientists are already on the way to developing more effective treatments that personalise care.
This year, the Department of Health (DH) launched Genomics England to help turn this ambition into a reality and leave a legacy for the NHS in embedding genomic sequencing as part of routine healthcare. For this reason, patient recruitment, consenting, sample processing and sequencing are all undertaken in an NHS setting. Recently, the ABPI represented the innovative pharmaceutical industry at an event at No.10 Downing Street which brought Genomics England, the pharmaceutical industry, diagnostics and analytics companies alongside investors to take stock of progress and build links with organisations across the world such as Genome America.
The genome profile of a patient will give doctors a new, advanced understanding of that patient’s genetic make-up, condition and treatment need. It will help researchers and scientists to develop life-saving new medicines, treatments and scientific breakthroughs. Ultimately, ensuring patients have access to the right medicines and personalised care far quicker than ever before.
The ABPI Stratified Medicine Working Group has been engaging with the 100K Genome project, firstly with DH then with Genomics England. Genomics is an important area for the innovative pharmaceutical industry. This project aims to leverage the unique strengths of the UK and unlock the potential benefits of precision or ‘stratified’ medicine – treatments tailored to those most likely to respond. The initial disease focus of this work is on cancer, rare disease and infectious disease. By the end of 2014, a pilot project will have sequenced 10,000 genomes in the UK and linked these to electronic health records – helping to turn vision into reality. The project also provides an opportunity to address and resolve pertinent issues such as consenting patients, appropriate counselling, building capacity and skills in the NHS, data quality and governance.
However, as the ABPI has said before, innovation is fragile and must be nurtured if it is to deliver sustained economic benefits and scientific progress.
A huge amount needs to be done to encourage innovation in the UK. Two years on from the launch, it is essential that the Government’s Strategy for UK Life Sciences and Innovation, Health and Wealth programmes deliver real improvements by unlocking scientific potential and driving healthcare innovation at scale across the NHS. With their support, future innovations like the 100,000 genome project will be able to find a home in the in the UK.
Dr Louise Leong
ABPI Head of Research and Development