Person-centred care has been a top priority for many years—now personalised medicine targeted at patients' individual genomes is at the top of the agenda and is beginning to improve the way treatment is delivered to people living with rare diseases and hard-to-treat cancers.
The ambitious target of sequencing 100,000 genomes by the end of 2018 has now been hit (Robinson, 2018), and a new even bolder goal to sequence 5 million genomes in the next 5 years has been set (The Pharmaceutical Journal, 2018). The 100,000 genomes project was launched in 2012 by former prime minister David Cameron, who set the initial target to sequence 100,000 genomes by the end of 2017. This was later extended by a year but 100,000 genomes in 6 years, particularly when it took 13 years to sequence the very first one via the Human Genome Project (Robinson, 2017), is impressive nonetheless.
What does this mean for treatment?
New treatments are on the horizon as a result of ongoing advances in genomic medicine and the growing number of nurse prescribers will be at the forefront of a new generation of genomic treatments. Treatments will specifically target the individual genome sequences of patients, and take into account both genomic and non-genomic factors, as well as the interaction between the two which resulted in the person's disease (Feero et al, 2010). The potential to understand what factors led to disease development in an individual means the possibility of unraveling this to bring them targeted treatments that will lead them through recovery and back to health.
Currently, community nurses are regularly caring for patients with long-term conditions and the issues of multimorbidity and polypharmacy will no doubt be the norm in your case loads. Genomic medicine will shed light on how different people are likely to respond to various treatments through an understanding of the variations in their genome. This will also allow insight into the potential for adverse affects (pharmacogenomics) so that patients can be suitably matched with the right treatment at the right dose (Robinson, 2017; Mendes, 2017; Mendes, 2019).
What does this mean for patients?
News stories on this topic often quote genomic experts or spokespeople from Genomics England for example. However, in a recent update from one of the newly announced seven genomic laboratory hubs that form part of a new NHS Genomic Medicine Service, we hear about the progress of the 100,000 genomes project straight from a patient who is enrolled (West of England NHS Genomic Medicine Centre (WEGMC), 2018). Patricia Gaskin was diagnosed with stage 4 ovarian cancer in 2017 and enrolled in the genome project through Gloucestershire Hospitals NHS Foundation Trust. Through the project, she was able to identify a BRCA ovarian and breast cancer gene mutation on her tumour. This is significant because her blood tests for the gene had come back negative and had it not been for the project, this gene would never have been identified, and she would never have been treated (WEGMC, 2018). Stories like Patricia's put a face on this novel phenomenon and paint a clear picture of why it actually matters.
What is to come?
The new NHS Genomic Medicine Service is currently being rolled out across England. Its role will be to provide comprehensive and equitable access to personalised medicine by facilitating access to the latest developments in genomic testing. The strategic approach to build the Service was set out by NHS England in March 2017 and comprises five components: a national genomic laboratory service through a network of Genomic Laboratory Hubs; a National Genomic Test Directory to underpin the genomic laboratory network; a national Whole Genomic Sequencing provision and supporting informatics infrastructure developed in partnership with Genomics England; a clinical genomics medicine services and an evolved Genomic Medicine Centre service; and a genomics unit within NHS England to serve as a national coordinating and oversight function (NHS England, 2018).
The first of these components refers to the seven organisations mentioned above who will lead the provision of Genomic Laboratory Hubs as part of the new Service (WEGMC, 2018). These trusts, including North Bristol Trust who shared Patricia's story, along with 27 partners, will make up the new genomic test network but this will not be operational until March 2020 (Brennan, 2018).