Integrating genomic medicine into primary care: a precision health model from Riyadh, Saudi Arabia.

IF 4.5 3区 医学 Q1 PRIMARY HEALTH CARE
Khaled Alabduljabbar, Aljoharah Alaskar, Hana Al Alshaykh, Hamad Alzaidan, Salman Alanazi, Mylynda Massart
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引用次数: 0

Abstract

Objective: To describe the design, structure and first-year operational data of the Precision Medicine Clinic (PMC) at King Faisal Specialist Hospital & Research Centre (KFSHRC), a primary-care-embedded genomic medicine service launched in Riyadh, Saudi Arabia, in January 2025.

Design: Descriptive service report.

Setting: The Precision Medicine Clinic, an embedded subspecialty service within the Department of Family Medicine and Polyclinics at KFSHRC-a publicly funded, single-payer tertiary academic centre in Riyadh, Saudi Arabia.

Participant: Adult and paediatric patients evaluated at the PMC during its first calendar year of operation (January-December 2025), referred from primary care for predictive genomic testing, pharmacogenomic testing or genetic counselling.

Result: The PMC evaluated 212 patients in 2025. Predictive genomic testing accounted for approximately 57% of evaluations and pharmacogenomics for approximately 43%, indicating a genuinely hybrid first-year caseload rather than one dominated by a single modality. Turnaround time from referral to results delivery was approximately 2-4 months. The predominant care model was two-visit (family-history capture and consent at visit 1; results disclosure at visit 2). Distinguishing features include embedding within a fully operational family-medicine department, a hybrid service scope spanning reactive pharmacogenomics, predictive Centres for Disease Control and Prevention (CDC) tier-1 actionable-gene screening and reproductive carrier screening under a single referral interface, integration with the Saudi Human Genome Program (SHGP) reference catalogue, and operation during the first year without routine medical-geneticist involvement.

Conclusion: The PMC-KFSHRC offers a replicable organisational template for integrating genomic medicine into primary care within a publicly funded, single-payer system and a reference architecture for Gulf and emerging-economy health systems pursuing primary-care genomic integration under Vision 2030-aligned digital-health strategies.

将基因组医学纳入初级保健:来自沙特阿拉伯利雅得的精准健康模式。
目的:描述费萨尔国王专科医院和研究中心(KFSHRC)精准医学诊所(PMC)的设计、结构和第一年的运行数据,这是一项嵌入初级保健的基因组医学服务,于2025年1月在沙特阿拉伯利雅得启动。设计:描述性服务报告。环境:精准医学诊所,是沙特阿拉伯利雅得kfshrc的家庭医学和综合诊所部门的嵌入式亚专科服务,kfshrc是一个公共资助的单一付款人三级学术中心。参与者:在PMC运营的第一个日历年(2025年1月至12月)期间,从初级保健转介进行预测性基因组检测、药物基因组检测或遗传咨询的成人和儿科患者。结果:2025年PMC评估了212例患者。预测性基因组检测约占评估的57%,药物基因组学约占43%,表明真正的混合第一年病例量,而不是单一模式占主导地位。从推荐到结果交付的周转时间约为2-4个月。主要的护理模式为两次访问(访问1时收集家族史并征得同意;访问2时披露结果)。其显著特点包括嵌入一个全面运作的家庭医学部门,涵盖反应性药物基因组学的混合服务范围,疾病控制和预防中心(CDC)的预测性一级可操作基因筛查和生殖载体筛查,在单一转诊界面下,与沙特人类基因组计划(SHGP)参考目录整合,以及第一年在没有常规医学遗传学家参与的情况下操作。结论:PMC-KFSHRC提供了一个可复制的组织模板,用于将基因组医学整合到公共资助的单一付款人系统内的初级保健中,并为海湾和新兴经济体卫生系统在“愿景2030”数字卫生战略下追求初级保健基因组整合提供了参考架构。
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来源期刊
CiteScore
9.70
自引率
0.00%
发文量
27
审稿时长
19 weeks
期刊介绍: Family Medicine and Community Health (FMCH) is a peer-reviewed, open-access journal focusing on the topics of family medicine, general practice and community health. FMCH strives to be a leading international journal that promotes ‘Health Care for All’ through disseminating novel knowledge and best practices in primary care, family medicine, and community health. FMCH publishes original research, review, methodology, commentary, reflection, and case-study from the lens of population health. FMCH’s Asian Focus section features reports of family medicine development in the Asia-pacific region. FMCH aims to be an exemplary forum for the timely communication of medical knowledge and skills with the goal of promoting improved health care through the practice of family and community-based medicine globally. FMCH aims to serve a diverse audience including researchers, educators, policymakers and leaders of family medicine and community health. We also aim to provide content relevant for researchers working on population health, epidemiology, public policy, disease control and management, preventative medicine and disease burden. FMCH does not impose any article processing charges (APC) or submission charges.
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