It was on the 26th of June 2000 that President Clinton stood in the Oval Office and announced the completion of the first survey of the entire human genome, claiming that this knowledge would prompt a revolution in “the diagnosis, prevention and treatment of most, if not all, human diseases”.
Decoding our genome opened the door to personalised medicine: by giving clinicians access to patients’ unique genetic information, it allowed them to steer away from the “one size fits all” approach of conventional medicine.
Personalised medicine brings multiple advantages. It offers the possibility of identifying the genes at the root of a disease, enabling early diagnosis, and prescription of the most effective treatment. It presents an opportunity to examine our genomes for mutations that make us more susceptible to develop certain pathologies, and make informed decisions years before the advent of the disease. It also means receiving the best drug needed to fight a specific type of tumour or knowing the precise dose of medication our bodies can process without risking adverse reactions.
All these advances are now becoming available and ready to be implemented. They are, most of the time, cost-effective and will help save the NHS money; and yet they are not readily accessible to all patients.
Vivienne Parry reflected on this dichotomy and examined the roadblocks hindering the widespread adoption of precision medicine in our current health system. With extensive experience of working within the NHS, Nick Lench (pictured) was in a strong position to provide her with an insight into the challenges ahead.
Nick emphasized the need for better communication and more training on the new advances of this complex field, both for commissioners and NHS staff. Ultimately, he argues, healthcare practitioners such as cardiologists, neurologists and even those in general practice should have the opportunity to order genetic tests themselves, not just clinical geneticists.
When a patient needs a genetic test it is not always clear who should order it, how to order it and who will pay for it. The commissioning of genetics test is currently too complex, working with well-informed commissioners will be important to simplify the process and provide equity of access for all patients.
Whilst there are some hurdles to the adoption of precision medicine, Nick highlights how the growing influence of patient advocacy groups, supported by the widespread use of social media, is driving an attitude shift in healthcare.
The NHS is turning 70 in 2018; in 2000, the UK accounted for a third of the genome sequenced for the Human Genome Project. In 2012, Genomics England launched the 100,000 Genomes project, described as the UK’s “moonshot moment” in the development of personalised medicine. These projects have put us at the forefront of a new healthcare revolution that holds both promises and challenges.
You can listen to Personalised Medicine: Dose by Design on the Radio 4 website here.
Click here to read more about Congenica’s involvement in the 100K Genomes Project
Click here to read more about the 100K Genomes Project