We recently held a Simmons & Simmons Healthcare Hub dinner discussing the ground-breaking genomics work that is currently taking place in the UK and the potential for the mapping of genomes to transform our everyday healthcare.
The following details below are insights that arose from the Simmons & Simmons Healthcare Hub dinner.
Why does genomics matter to us?
Each of us has a different genome - a personal DNA code. Your genetics make up who you are and provide clues about what diseases you may develop in your life. Your genetics determine whether certain drugs will work in response to these diseases and what preventive actions you could and should take to remain well.
DNA "copies" itself, but sometimes "makes mistakes’". This can result in disease or, conversely, a genetic strength or advantage - the process of evolution. Sequencing the genome of a person and, in turn, understanding the "mistakes" that DNA makes, helps scientists and doctors understand how diseases work.
One of the key complications in understanding disease, is that most diseases are not monogenic (ie created by a mistake or mutation in a single gene). It is therefore necessary to map entire genomes to understand better disease - looking at every aspect of a human’s DNA. This is something that has previously been branded “impossible”, but in which significant leaps in progress has now been made.
Is the UK getting ‘left behind’ in the genomics space?
The 100,000 Genomes Project, initiated by David Cameron, is a landmark project that is not on a scale that has not been seen anywhere else in the world, meaning that the UK’s research and life science sector is at the forefront of global advances in modern medicine. It is comparably simple to generate genomics results with "differences" - whereas, critically, the genomes being mapped in the UK are comparable with each other. The UK is a leader in this field.
Is the cost of genomics mapping development ‘worth it’?
Genomics is an expensive field and the question of how you capitalise the work completed to date is a complicated one, but this will come in time. One thing that is clear is that genomics has the potential to produce price efficiencies in drug development - by being able to test drugs on the right "set" of genetics and thereby avoiding costly testing on those with genomes where trials would always be destined to fail.
Initiatives like the 100,000 Genomes Project are creating the "train tracks" (ie infrastructure) for others to develop the "trains" for. Without the tracks, there will be no trains. This is a long term visionary project and all of the answers are not yet clear.
Does genomics raise difficult questions relating to patient consent?
Participation in the 100,000 Genomes Project is based on consent, and people’s data is strictly protected and retained within the NHS. Although the consent we receive from patients permits researchers to see their de-identified data there is no intention for this data to ever be distributed outside of a central healthcare system. In time, perhaps patients will elect to share data in relation to their genome, for example to reduce insurance premiums. This should not be allowed without any such consent.
What are next steps?
As the 100,000 Genomes Project is nearing completion, the key next steps will be to widen the pool of genetic mapping - for instance, focussing on babies that are born with genetic disorders so that the treatment and understanding of their diseases can be mapped from birth. The aim is to continue to widen the pool of genome sequencing, in each case, on a comparable and consistent basis - to build a stronger "map" to allow us to understand the way diseases work. To gain the understanding we need will require truly colossal data, way more than 100,000 genomes - perhaps 100 million might do
Will genomics disrupt the way we view healthcare?
Genomics has the potential to transform the future of health care, with new and better tests, drugs and treatment. It is expected to provide a lifeline to families affected by rare genetic diseases and cancers. In the future, it is also expected to change fundamentally the way we view our health - empowering us and our doctors with information to enable us to stay well. Medical advice will be tailored to us as individuals - looking at our genetic code to take account of "what works" and "what doesn’t".
General purpose hospitals may be a thing of the past as healthcare becomes more advanced and specialist knowledge allows the needs of patients to be monitored and addressed in a more bespoke nature.
Ultimately, current genomics mapping projects, such as that being led by Genomics England, will pave the way for genomics-based medicine to become part of everyday practice throughout the NHS. The aim will be to prevent patients "crashing" before they do - creating an overall shift from healthcare to wellness and, quite literally, transforming the life experience of humanity.
If you would like more information about the Healthcare Hub network, please contact Jocelyn Ormond or Charles Mayo.
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