Genomics and Personalised Medicine – NHS Alliance



we 100 thousand genomes project was announced by the UK Prime Minister in 2012 with the aim to better understand and treat rare diseases and cancers with the project now well underway sue Sabol visited genomics England to see how genomics and personalized medicine will be a key part of NHS practice in the future deciphering an individual's DNA is entering mainstream medicine in the NHS genomics England is setting up the infrastructure to tailor treatments to patients in the most advanced project of its kind in the world the team running the 100,000 genomes project is making great strides they've already decoded 14 thousand full genetic maps or genomes we'll know how to choose treatments for cancer individualized to that patient's particular cancer and that hopefully will give people the best chance of healthcare outcomes a huge benefit to society so I think what will happen is there'll be a much fuller picture in cancer of the patient journey for the general practitioner genome sequencing is the decoding of the three billion building blocks or letters that make up our DNA this information will allow doctors to personalize treatment for an individual's unique genetic makeup the NHS is the first healthcare system in the world to take genomics from the research lab to clinicians with a current annual NHS drugs bill of some 15 billion pounds targeted therapies could bring huge economic benefits we established 13 genomic medicine centres that cover the whole of the NHS in England so we're looking at this as a more holistic approach across the health system from primary care right through to specialist tertiary care in terms of access to genomic technologists mapping patients DNA also means changes needed in the pathology service the old method of mounting a tissue sample on a wax block damages the DNA so a new method of fresh freezing in liquid nitrogen is being introduced genomics England has been working very very closely with NHS England and with pathology services and research collaborators around the country to look at the issues that are required to develop this infrastructure what options are available and also to change the culture that will allow us to implement new pathways that make the most of our patient samples because they're soon precious those precious samples yield data which is then analyzed by bioinformatics experts who've developed a unique semi-automated pipeline or workflow to speed up the decoding of DNA their breakthroughs include finding the cause of severe immune problems in a baby this little baby had a problem in a gene that encoded a vitamin B transporter and so the mother of that family was actually pregnant again and unfortunately the new baby had the same genetic mistake but because they knew what that genetic mistake was they were able to start giving that baby vitamin B injections ethics underpin the 100 thousand Genome Project with fully informed patient consent and data de-identified for secure storage this professor who was involved in mapping the very first human genome believes this project is a game-changer as we expands the types of analysis we can do that will get that will justify having genomes collected for more people and so it'll become much more common that you have a genome as part of your clinical care and it gets used for out your life for many different purposes a lot of drug prescription happens with your GP and so if rather when that doctor decides which drug they're going to give you if that can already have been checked against your genome if you've got one then that will let the you know the GP prescribe more accurately mapping a genome once took many years now it takes just 27 hours the 100,000 target is well within reach embedding genomic medicine into routine NHS care

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