By Caitlin Davies
Personalised medicine, or precision medicine, refers to the idea of tailoring treatment options for patients based on a wide range of clinical diagnostic data, instead of a ‘one size fits all approach’ to ensure the best efficacy and highest safety margin in each individual patient (Vondenberg et al, 2010). This is not a novel idea – it has been applied in fields of medicine such as oncology, where patients are often prescribed chemotherapeutic agents depending on the characteristics of their tumour, e.g how developed the tumour is, whether it is metastatic or whether it possesses certain receptors that make it responsive to certain hormones (NHS England, 2016). Personalised medicine has developed greatly since the acknowledgment that most drugs do not have the desired effect on the majority of the general population. In 2003, Dr Allen Roses, former GlaxoSmithKline Vice President, stated that “The vast majority of drugs – more than 90 per cent – only work in 30 or 50 per cent of the people,” a statement that triggered the enthusiasm for a personalised approach from those within, as well as unfamiliar with the pharmaceutical field (Connor, The Independent, 2003).
Since then, the idea of personalised medicine has expanded to include the delivery of personalised therapies based on an individuals’ genetic traits, as these traits give an indication of both the patient’s prognosis and how well they may respond to certain drugs, without the need to administer them in the first place. This is often referred to as pharmacogenomics (Mooney, 2015). Additionally, once patterns between genetic variants, characteristics of disease and typical drug responses have been identified through various association studies, these data sets can be used clinically in predictive analytics to reduce diagnosis times and aid the personalisation of care for patients with similar genetic data.
However, until recently, delivering personalised care has been limited by the inaccessibility of genetic testing. The first full sequence of the human genome was completed in 2003 using a type of Sanger Sequencing called shotgun sequencing, however this remains far too time consuming when dealing with a large number of samples(Wellcome Sanger Institute, 2000, 2003). More advanced and automated Next Generation Sequencing, which is far less time consuming and is more cost effective for large numbers of samples, was developed in 2005 by Nick McCooke and did little to improve the accessibility of personalised care to a healthcare system due to its’ costing around $1000 per read through (Labiotech.Eu, 2019). However since then, the cost of whole genome or exome sequencing has declined massively and with advances in the high speed computing needed for analysis of large data sets, personalised medicine is becoming a potential avenue for exploration to health care systems (ESHG Public and Professional Policy Committee et al., 2013), (NHS England, 2016).
There is, of course, implications with transitioning to a personalised care approach within a health care system. There are a number of issues which would require a thorough set of best practise procedures to be in place before the transition can be completed.
For example, it is possible that the results of genome sequencing identify unexpected variants with a health implication. This is an issue, as it means patients must be counselled pre-sequencing in order to give fully informed consent (ESHG Public and Professional Policy Committee et al, 2013). Patients will then also need to be counselled post-sequencing to aid in the processing of results; this creates a demand for genetic counsellors amongst other genetic interpreters (Brothers and Rothstein, 2015). Furthermore, some individuals argue that a patient has the ‘right not to know’, if the results have an unknown significance, but this may be overruled if a healthcare professional deems the individual or family members will be harmed if the patient is not informed (ESHG Public and Professional Policy Committee et al., 2013). This may have an effect on the physician-patient relationship and will require careful, clear explanation of the situation to the patient in order to ensure they understand the implications of their results.
There are also security issues involved with storing such large amounts of personal healthcare data. There needs to be adequate frameworks in place to allow authorised healthcare entities to access the data, while ensuring it is secure from non-authorised entities (Brothers and Rothstein, 2015). It is also vital the system upholds the current data protection regulations to ensure patient’s feel comfortable consenting to the storage of their data.
To conclude, personalised medicine is becoming an important part of our future healthcare system as we move away from a ‘one size fits all approach’ but it comes with its own challenges. The NHS is aiming to be the first healthcare system to ‘fully embrace personalised medicine’ for all patients, regardless of the severity or rarity of their ailments or where they live in the UK (NHS England, 2016). The UK is not alone in this approach either, as Australia, Germany and France are some of the nations also incorporating a personalised approach to their healthcare systems. In terms of the future of personalised medicine, we may see the field expanding even further, through welcoming the use of wearable technology for example to provide additional data that can be used to personalise a patient’s treatment plan, alongside whole genome sequencing and other clinical diagnostic data. Whilst this progression comes with serious challenges, it stands to revolutionise the field of health diagnostics and will have broad-scale effects on the global approach to medical intervention.
Brothers, K. B. and Rothstein, M. A. (2015) ‘Ethical, legal and social implications of incorporating personalized medicine into healthcare’, Personalized Medicine, 12(1), pp. 43–51. doi: 10.2217/pme.14.65.
Connor, S (2003) Glaxo chief: Our drugs do not work on most patients, The Independent. Available at: http://www.independent.co.uk/news/science/glaxo-chief-our-drugs-do-not-work-on-most-patients-5508670.html (Accessed: 22 August 2020).
(on behalf of) ESHG Public and Professional Policy Committee et al. (2013) ‘Whole-genome sequencing in health care: Recommendations of the European Society of Human Genetics’, European Journal of Human Genetics, 21(6), pp. 580–584. doi: 10.1038/ejhg.2013.46.
Labiotech.Eu Interviews, C. R. F. (2019) The Man Behind Next-Generation Sequencing, Labiotech.eu. Available at: https://www.labiotech.eu/interviews/next-generation-sequencing-nick-mccooke/ (Accessed: 22 August 2020).
Mooney, S. D. (2015) ‘Progress towards the integration of pharmacogenomics in practice’, Human Genetics, 134(5), pp. 459–465. doi: 10.1007/s00439-014-1484-7.
NHS England, (2016) ‘Improving outcomes through personalised medicine’, Available at: https://www.england.nhs.uk/wp-content/uploads/2016/09/improving-outcomes-personalised-medicine.pdf. (Accessed 23rd August).
Vondenberg, F R. Isaacson Barash, C. and Pursel, M. (no date) ‘Personalized Medicine, Part 1: Theranostics’, Personalized Medicine, p. 7.
Wellcome Sanger Institute (2000) International Human Genome Sequencing Consortium Announces “Working Draft” of Human Genome – Wellcome Sanger Institute. Available at: https://www.sanger.ac.uk/news_item/international-human-genome-sequencing-consortium-announces-working-draft-human-genome/ (Accessed: 23 August 2020).
Wellcome Sanger Institute, P. O. 14 (2003) The Finished Human Genome – Wellcome To The Genomic Age – Wellcome Sanger Institute. Available at: https://www.sanger.ac.uk/news_item/2003-04-14-the-finished-human-genome-wellcome-to-the-genomic-age/ (Accessed: 23 August 2020).