Centre for Public Health, School of Medicine, Dentistry & Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom.
Northern Ireland Regional Genetics Service, Belfast City Hospital, Belfast, Northern Ireland, United Kingdom.
Ulster Med J. 2024 Nov;93(3):111-118. Epub 2024 Nov 26.
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.
基因组医学与主流患者护理的整合有望推动医疗保健的发展,并为疾病预测和个性化治疗方法带来潜在益处。本文探讨了在英国国民保健制度(NHS)中整合基因组医学所面临的挑战,以及与 NHS 拟议的长期计划和英国基因组组织战略保持一致的潜在解决方案。已经确定了关键的挑战和知识差距,包括依赖转诊的系统、不明确的资格标准、缺乏政策和指南、临床基因组能力方面的差距、基因组测序成本、英国各地基因组检测准入的公平性问题,以及数据管理和患者隐私问题。拟议的解决方案和未来方向包括将遗传测试订单权限扩展到包括主流临床医生,并通过培养有能力的劳动力和适当的患者参与来建立明确的资格标准、政策和指南。此外,通过扩大基因组测序能力和在英国范围内标准化遗传测试,扩大全基因组测序(WGS)和药物基因组学测试方法将降低消耗品成本。利用人工智能(AI)和数据仓库方法将改善数据管理,特别是在电子健康记录整合方面。总之,基因组医学在主流患者护理中的成功整合为医疗保健提供带来了变革性的潜力。通过认识到所确定的挑战并采用所提出的解决方案,医疗保健系统可以彻底改变患者的治疗效果,推进精准医疗,并塑造基因组驱动的医疗保健的未来。