George Engel changed the dynamic of healthcare when he proposed his biopsychosocial model over forty years ago (Engel, 1977) which sought to treat patients as a whole and not simply as medical puzzle to be solved. Over the past couple of decades the field of genomics has dramatically accelerated from a single human genome being sequenced to the completion the 100,000 genomes project just a few months ago. This presents us with a whole new dimension to patient care which needs addressing, yet, despite this huge leap forward for medicine, nurses continue to have a huge lack of understanding within this area (Anderson et al., 2015; Camak, 2016), suggesting a need to incorporate this more into nursing education.
Genomics considers the whole genetic sequence of an organism which differs from genetics which is more focused on individual genes and inheritance. The application of genomics in medicine is paving the way for an increasingly personalised approach to healthcare. More specifically, it is aiding the diagnosis of many individuals with rare diseases when previously they may not have ever received a definitive diagnosis (Boycott et al., 2017). Furthermore, understanding the genomic material of a person allows for a more targeted approach when treating disease, an area known as pharmacogenomics (Evans and Relling, 2004; Whirl-Carrillo et al., 2012; Relling and Evans, 2015). This approach is leading towards a much more personalised approach to treating a range of diseases, from cancers to psychiatric diseases, matching the most effective medications to the genome, as well also being able to predict which drugs may have the least adverse effects, improving not only treatment, but also patient experience.
An additional vital application of genomics in healthcare is its important role in infection control and the battle against antibiotic resistance (Lindsay, 2013; Croucher and Didelot, 2015). Genomics and the ever-improving rapid genome-sequencing technologies allow us to track the development of new strains of microbes as well as guiding the most appropriate ways in which to treat infection as quickly as possible (Deurenberg et al., 2017). This will ultimately limit the use of unnecessary antibiotics (thus limiting future resistance), but also help to reduce transmission of multi-drug resistant microbes as preventative actions can be made sooner.
Genomics, however, not all bells and whistles. With these huge advancements in technology comes a whole host practical and ethical issues. First let’s consider the practical: A human genome is approximately 200GB of data, about the same as the storage on an average laptop. That is huge. This means a large amount of computing power as well as specialist bioinformaticians are required to analyse this data which can be costly and time consuming. Additionally, scientists still don’t understand what all of our genes even do, and for that matter there is still debate as to how many genes we even have (Willyard, 2018). Essentially, the technology has come forwards in leaps and bounds, but we are still limited by our current knowledge base.
Let us also consider the ethical issues surrounding genomics. Without going into too much depth on this matter, let instead contemplate a couple of questions:
* Who owns a genome? Every genome is unique to the person and therefore you could say a genome is the most personal thing a person has, so ask yourself, who should have the rights to the genome once sequenced; the scientists/funding body who sequenced the genome? The clinicians? The patient?
* A person has their genome sequenced to look for one thing, but it throws up that they carry the genes which make them high-risk for other diseases – should the patient be told, knowing that it may deeply affect them, even though it may never even amount to anything? In addition, should this information be obliged to share with insurance companies?
So far, we’ve discussed the huge contribution to healthcare that genomics is making and will continue to make, and considered a few of the issues which still remain, but where does the nurse fit in all of this? And how does this tie into holistic, person-centred care?
It is clear that genomics is going to become more and more integral into healthcare as we move further towards personalised medicine. As nurses we have a duty to understand why we treat patients the way we do, and If we do not, we put a limit on our ability to advocate for them. If we as healthcare professionals have a limited understanding of this area, then consider how much less the average patient will know. How can nurses discuss issues with and assure patients when their own understanding of the topic is so limited? Furthermore, many nurses will specialise and become advanced practitioners in a whole host of areas. Within each of these areas, genomics will play its own part and, as nurses, we are on the back foot if we move into these areas completely blind and void of the basic level knowledge underpinning patient treatment.
What then can we do to improve this deficit of genomics knowledge in nursing? First of all, read! There is so much information out there just a simple Google away… If you’re still a student, perhaps consider asking your lecturers about adding genomics to the curriculum. Already an RN? Why not consider an online module in genomics as part of your CPD? You can also find lots of information and courses and resources on Health Education England’s Genomics Education website.
Written by Michael Carter PhD (@DrMLJCarter on Twitter)
Michael is a second year PGdip Adult Nursing student at the University of Southampton. Before nursing he did a PhD in Biochemistry and worked as a research scientist in both academia and industry. Michael has a strong interest in the role nurses will play in genomic medicine.
Anderson, G. et al. (2015) ‘Genomics for Nursing Education and Practice: Measuring Competency’, Worldviews on Evidence-Based Nursing, 12(3), pp. 165–175.
Boycott, K. M. et al. (2017) ‘International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases’, The American Journal of Human Genetics, 100, pp. 695–705.
Camak, D. J. (2016) ‘Increasing Importance of Genetics in Nursing’, Nursing Education Today, 44, pp. 86–91.
Croucher, N. J. and Didelot, X. (2015) ‘The application of genomics to tracing bacterial pathogen transmission’, Current Opinion in Microbiology, 23, pp. 62–67.
Deurenberg, R. H. et al. (2017) ‘Application of next generation sequencing in clinical microbiology and infection prevention’, Journal of Biotechnology. Elsevier B.V., 243, pp. 16–24.
Engel, G. L. (1977) ‘The Need for a New Medical Model: A Challenge for Biomedicine’, Science, 196(4286), pp. 120–136.
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