Semantron 20 Summer 2020

Genetic editing and the law

have visited many specialists across the span of paediatric medicine seeking a diagnosis for my sister. It was not until recently that the cost of a full genome sequence was economically viable, the cost of this test has reduced from approximately 1 million dollars in 2007 to 1000 dollars in 2017. 4 Following this test it was established that my sister has a de novo (not inherited) Shank3 point mutation causing Phelan McDermid syndrome. It is a rare disorder with only ‘ 2.5 – 10 per million births ’ 5 having this condition. This condition has varied impacts on different children. In my sister’s case, when she is on a flare, a period of time lasting for a month or longer, she has an adrenaline spike. It causes a severe lack of sleep, a maximum of 3 hours a night, with a continuous need for movement. This movement is combined with additional sensory needs such as, repetitive loud noises and an urge to taste inedible objects. This condition causes my sister to need continuous adult supervision while she is awake. If genome sequencing and editing were prevalent before my sister was born, my parents would have had the option of a treatment and she would have had the chance of living a life without disadvantage. The financial cost to the government, to care for people with rare genetic disorders, is substantial and split across a number of government departments, which makes it difficult to quantify. In a feasibility study conducted in 2016 by Genetics Alliance, it was quoted ‘ The true costs of rare conditions are unknown. ’ 6 It was also quoted ‘ The current budget for specialized services (including highly specialized services) is £15 billion, which accounts for 10% of NHS spending. ’ 7 This funding is only the budget given to the NHS by the government. It covers the cost of care for the NHS, which may include, a consultant ’ s clinical diagnosis, continuous supervision from doctors or nurses, expensive medication, and in some cases life support. In addition to this NHS expenditure, the burden is borne by local councils who have to provide schooling with support or a placement in a specialist school, which is funded from the education budget. In more severe cases homecare may be required and this is funded from the local council’s social care budget. From the age of 25 all related costs are also funded through the social care budget. If these patients were genetically altered using CRISPR-cas9, it would eliminate the need for this lifelong care at the cost of a full genome sequence and a single correcting procedure. The Guardian quoted in 2018 that ‘ The NHS in England overspent by £4.3bn last year, while the 240 NHS trusts owe the Department of Health and Social Care £7.4bn in outstanding historic loans. ’ 8 In total having a deficit of £11.7 billion. The potential savings from genetic editing can be one of the options to help reduce or eliminate this large debt. Alternatively, these savings can lead to improvements in the working conditions of NHS staff and help decrease waiting times for patients in need of desperate attention. Funding the NHS will benefit the entire population.

Conversely, the safety of genome editing has not been established, as there have not been enough clinical trials on humans. While intended to cure genetic disorders, there is a risk that it may lead to

4 https://www.genome.gov/about-genomics/fact-sheets/Sequencing-Human-Genome-cost [accessed 30/7/19]. 5 https://rarediseases.org/rare-diseases/phelan-mcdermid-syndrome/ [accessed 5/7/19]. 6 https://www.geneticalliance.org.uk/media/2502/hidden-costs-full-report_21916-v2-1.pdf [accessed 23/7/19]. 7 https://www.geneticalliance.org.uk/media/2502/hidden-costs-full-report_21916-v2-1.pdf [accessed 23/7/19]. 8 https://www.theguardian.com/society/2018/oct/21/nhs-20bn-cash-risks-paying-off-debts [accessed 6/7/19].

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