将家族风险、生活方式因素和药物基因组学见解纳入针对参与开放基因组计划的医疗保健资助受益人的个性化非传染性疾病 (NCD) 报告。

IF 1 4区 生物学 Q4 GENETICS & HEREDITY
Manie De Klerk, Nicole Van Der Merwe, Johny Erasmus, Lindiwe Whati, Kelebogile E Moremi, Daniel W Olivier, Maritha J Kotze
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引用次数: 0

摘要

导言:为应用病理学支持的基因检测开发了一个伦理指导决策框架,这是一种多方面的药物诊断方法,可将人群风险分层转化为临床效用。我们介绍了这项由开放基因组计划支持的服务,它符合个性化医疗的惠益原则:方法:作为试点项目的一部分,我们对六种非传染性疾病进行了基因检测,并以非洲基因组医学实施准备清单为基准。患者转诊标准是根据医疗保健资助者的报销数据确定的,采用调整后的临床分组和资源利用带风险评级结构来识别潜在的治疗无效者:在135名受邀医生中,有3名(2.2%)立即表示对试点不感兴趣,24名(17.8%)积极参与。病例报告中同时评估了遗传、生活方式诱发和治疗相关的病症,并对 25 名转诊患者使用了特殊医疗计划报销费率代码。参与研究的遗传咨询师利用研究结果选择了三名患者进行全外显子组测序,并采用了新颖的分级数据处理算法进行自适应报告:这项研究表明,基因组学已被应用到针对有频繁就诊史的患者的不断发展的工作流程中。消除成本障碍为指导未来的报销政策决策提供了有价值的见解。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Incorporating familial risk, lifestyle factors, and pharmacogenomic insights into personalized noncommunicable disease (NCD) reports for healthcare funder beneficiaries participating in the Open Genome Project.

Introduction: An ethics-guided decision-making framework was developed for applying pathology-supported genetic testing, a multifaceted pharmacodiagnostic approach that translates population risk stratification into clinical utility. We introduce this service, supported by the Open Genome Project, which aligns with the beneficence principle in personalized medicine.

Methods: Genetic testing of six noncommunicable disease pathways was conducted as part of a pilot program, benchmarked against a readiness checklist for implementation of genomic medicine in Africa. Patient referral criteria were determined using healthcare funder claims data, employing the Adjusted Clinical Groupers and Resource Utilization Band risk rating structure to identify potential nonresponders to treatment.

Results: Three of the 135 doctors (2.2%) invited expressed immediate disinterest in the pilot, while 24 (17.8%) actively participated. Inherited, lifestyle-triggered, and therapy-related pathologies were simultaneously assessed in case reports, with special medical scheme reimbursement tariff codes applied to 25 patient referrals. The findings were used by the participating genetic counselor to select three patients for whole exome sequencing, utilizing a novel, level-up data processing algorithm for adaptive reporting.

Conclusion: This study demonstrated the implementation of genomics into an evolving workflow for patients with a history of frequent clinic visits. Eliminating the cost barrier provided valuable insights to guide future reimbursement policy decisions.

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来源期刊
Annals of Human Genetics
Annals of Human Genetics 生物-遗传学
CiteScore
4.20
自引率
0.00%
发文量
34
审稿时长
3 months
期刊介绍: Annals of Human Genetics publishes material directly concerned with human genetics or the application of scientific principles and techniques to any aspect of human inheritance. Papers that describe work on other species that may be relevant to human genetics will also be considered. Mathematical models should include examples of application to data where possible. Authors are welcome to submit Supporting Information, such as data sets or additional figures or tables, that will not be published in the print edition of the journal, but which will be viewable via the online edition and stored on the website.
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