Genomics is changing the way I treat my patients
What if we could customise the treatment we provide to patients to match their unique genetic make-up? Jeremy Levy, consultant nephrologist, talks about the growing reality of personalised medicine and shares his experience of the 100,000 Genomes Project – an initiative set up by the Government in 2012 to kick start a genomic medicine service for the NHS.
I am a consultant who specialises in diseases and disorders of the kidney. One of the conditions I treat is adult polycystic kidney disease (APKD). APKD causes small, fluid-filled sacs called cysts to develop in the kidneys which, over time, affect the kidneys’ ability to function and can lead to kidney failure.
APKD is caused by a genetic variance – or what is known in genomic sciences as a mutation. Already we know of two genes where a mutation causes APKD, but many more genes like this exist, we just haven’t identified them yet.
Until now we have diagnosed APKD via imaging or scans, and have rarely used genetic testing. Partly this has been due to the high cost associated with it, but also because it’s not been common practice to provide different treatment to patients with the same condition – regardless of the outcome of genomic analysis and despite a prognosis varying greatly between patients with different mutations.
And this is the case in many other areas of medicine. Despite knowing there are multiple genetic strains of a condition, we generally treat people with the same condition in the same way. Being able to offer patients differential treatments based on the individual, genetic strain of their condition, has the potential to dramatically improve patient outcomes.
We have seen medicine progress like this in the past. For example, at some point we stopped treating all patients who had a cough in the same way. We began distinguishing between those patients who’d been exposed to soot, those with a cough caused by tuberculosis and those who had a chest infection and a cough. It’s important we keep challenging this ‘one size fits all’ approach to medicine and move steadily towards fully personalised treatment.
Personalised medicine is the driving force behind the 100,000 Genomes Project launched by the Government in 2012. It’s an initiative which hopes to kick start a genomic medicine service within the NHS and sees scientists and clinicians sequencing the genomes (genetic make up) of thousands of NHS patients to better understand which genetic changes in the body cause disease. As a Trust, we’re leading the recruitment of patients in west London into this project and have been designated as an NHS Genomic Medicine Centre (GMC) in partnership with Chelsea and Westminster Hospital NHS Foundation Trust, Royal Brompton & Harefield NHS Foundation Trust, and Royal Marsden NHS Foundation Trust.
APKD is one of the conditions the 100,000 Genomes Project is focussing on and aims to identify the genetic mutations behind this disease. Being part of a GMC, and making genetic testing standard practice at the Trust where appropriate, has allowed me to ask my patients if they’d like to have their genome sequenced and analysed. Almost all of my patients have agreed to take part so far.
The first step in this process is to obtain blood samples and send them off for testing to identify which APKD patients carry one of the two known gene mutations. The patients who don’t carry these mutations are then invited to join the sequencing programme which aims to identify new gene mutations.
''There is now a clinical consensus that genomics will completely transform the way we practise medicine that will lead to better outcomes for our patients.''
Much of the motivation for patients to become involved in this project is to advance scientific discovery and medical knowledge which will shape how we treat sufferers of APKD in the future. However, there are more immediate, personal benefits for patients taking part too. For example, since the project launched and thanks to genetic analysis, I have been able to offer more accurate information to my patients about their prognosis. In the future, knowing more about gene mutations will also allow me to identify patients who are at greater risk of a poor prognosis.
There is now a clinical consensus that genomics will completely transform the way we practise medicine that will lead to better outcomes for our patients. The 100,000 Genomes Project is a big step in that direction.
