Academic Review 2024

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“ ...to establish the use of whole genome sequencing in the NHS and drive change within NHS

Similarly, in 2012, the Prime Minister, David Cameron, established a programme called the 100,000 Genomes Project which aimed to expand on the Human Genome Project’s work by mapping out 100,000 genomes and ‘to establish the use of whole genome sequencing in the NHS and drive change within NHS services to adopt this technology’ (Turnbull, Scott, & al, 2018). They found that whole genome sequencing ‘led to a new diagnosis for 25% of the participants’ and of this 25%, ‘14% found variations in regions of the genome that would be missed by other methods’ (Genomics England, 2022). This actively demonstrates the benefits of using whole genome sequencing, and its effectiveness compared with traditional methods, and is an important reason as to why personalised medicine should be used further in the NHS. How can personalised medicine be used to provide more effective treatments? As stated previously, there are a plethora of groundbreaking advantages that come with the use of employing medicines that are specifically intended for the patient. Using genome mapping, doctors are able to better determine which drugs and treatments would be the most successful and which would have the fewest negative side effects. This allows clinicians to make more informed decisions on what treatments would be best to provide to patients. Dr Rochelle Long, an expert in pharmacogenetics (the study of how genes affect an individual’s reaction to certain drugs), says ‘If doctors know your genes, they can predict drug response and incorporate this information into the medical decisions they make’ (News in Health, 2013). She claims that by screening, doctors can identify patients who may experience life-threatening side effects to certain drugs. An example backing this up is the anti-viral drug, abacavir, which is used for antiretroviral therapy in modern treatments of HIV. A negative side effect from abacavir is a treatment-limiting hypersensitivity reaction which occurs in 5-8% of patients (McKinnon & Sorich, 2012). This hypersensitivity reaction can be lethal. However, ‘In 2002, two independent groups including a Perth-based group identified that this syndrome was strongly associated with carriage of a particular gene variant, designated major histocompatibility complex class I

services to adopt this technology... ”

allele HLA-B*5701’ (McKinnon & Sorich, 2012). As a result, screening for the HLA-B*5701 allele can identify patients who are at risk of developing this hypersensitivity reaction, allowing the therapy to be carried out with the least amount of risk possible. This is one of many examples which shows the usefulness of genomics and weighs the argument of whether or not personalised medicine should be further incorporated into the NHS in its favour. In addition to this, genome analysis can be used to prescribe more targeted medications to patients. This allows patients to receive more effective treatments. This conserves the NHS’s limited resources by minimising waste of time and money while trying various different drugs to determine which ones work best through trial and error. For example, selective serotonin reuptake inhibitors are a type of antidepressants that are metabolised by CPY450 enzymes. The CPY450 gene has lots of different variations and, ‘Genotyping of variants in the CYP450 genes can be used to predict the metabolizing strength of the cytochrome enzymes’ (Katsanis, Javitt, & Hudson, 320). This can be useful to doctors as it allows them to determine a dosage which is specific to the patient. However, this may lead to concerns and unwillingness to adapt from pharmaceutical companies, which is explored later on in this essay.