Integration of genomic medicine to mainstream patient care within the UK National Health Service.

The Ulster medical journal Pub Date : 2024-11-01 Epub Date: 2024-11-26
Anhukrisha Karthikeyan, Shane McKee, Gareth J McKay
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Abstract

The integration of genomic medicine within mainstream patient care promises advances in healthcare and potential benefits for disease prediction and personalised treatment approaches. This paper explores the challenges of integrating genomic medicine within the UK's National Health Service (NHS) and potential solutions for alignment with the NHS's proposed long-term plan and Genome UK strategy. Critical challenges and knowledge gaps have been identified, including a referral-dependent system, unclear eligibility criteria, lack of policies and guidelines, gaps in clinical genomic competence, genomic sequencing costs, equity issues for genomic testing access across the UK, and data management and patient privacy concerns. Proposed solutions and future directions include extending genetic test ordering authority to include mainstream clinicians and establishing unambiguous eligibility criteria, policies and guidelines through a developing trained workforce and appropriate patient engagement. Moreover, expanded Whole Genome Sequencing (WGS) and pharmacogenomic testing approaches through up-scaling genomic sequencing capacity and standardising genetic testing across the UK will lower consumable costs. Leveraging artificial intelligence (AI) and data warehousing approaches will improve data management, particularly in the context of integration within electronic health records. In summary, the successful integration of genomic medicine within mainstream patient care holds transformative potential for healthcare provision. By recognising the challenges identified and embracing the proposed solutions, healthcare systems can revolutionise patient outcomes, advancing precision medicine and shaping the future of genomic-driven healthcare.

将基因组医学纳入英国国民健康服务的病人护理主流。
将基因组医学纳入主流病人护理有望推动医疗保健的进步,并为疾病预测和个性化治疗方法带来潜在益处。本文探讨了将基因组医学纳入英国国民医疗服务体系(NHS)所面临的挑战,以及与 NHS 拟议的长期计划和英国基因组战略保持一致的潜在解决方案。已确定的关键挑战和知识差距包括:依赖转诊的系统、不明确的资格标准、缺乏政策和指南、临床基因组能力差距、基因组测序成本、全英国基因组检测的公平性问题,以及数据管理和患者隐私问题。建议的解决方案和未来方向包括:扩大基因检测下单权,将主流临床医生纳入其中;通过培养训练有素的工作人员队伍和适当的患者参与,制定明确的资格标准、政策和指南。此外,扩大全基因组测序(WGS)和药物基因组学检测方法,提高基因组测序能力,并在全英范围内实现基因检测标准化,这将降低耗材成本。利用人工智能(AI)和数据仓库方法将改善数据管理,特别是在整合电子健康记录的背景下。总之,将基因组医学成功整合到主流患者护理中,将为医疗保健服务带来变革潜力。医疗保健系统只要认识到所面临的挑战并采用所提出的解决方案,就能彻底改变患者的治疗效果,推动精准医疗的发展,塑造基因组驱动医疗保健的未来。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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