Design of a study to implement population-based risk assessment for hereditary cancer genetic testing in primary care.
Design of a study to implement population-based risk assessment for hereditary cancer genetic testing in primary care.
复制标题
设计一项研究，在初级保健中实施基于人群的遗传性癌症基因检测风险评估。
DOI：
10.1016/j.cct.2020.106257
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发表时间：
2021-03
影响因子：
2.2
通讯作者：
Swisher EM
中科院分区：
文献类型：
--
作者：
Bowen DJ;Wang C;Cole AM;Norquist BM;Knerr S;Devine B;Shirts B;Cain K;Harris HM;Haile HG;Swisher EM
识别具有高癌症遗传风险的患者具有重要的临床影响，但由于提供者和患者层面的检测障碍，遗传性癌症风险通常无法识别。目前尚不清楚如何在运营的初级保健诊所中最好地实施适当的基因检测和后续护理。迄今为止的实施研究是在资源丰富的设施中、在最佳条件下进行的，通常不是在诊所层面进行的。本研究旨在比较和评估两种全人群参与策略，以识别初级保健诊所人群中有癌症家族史或个人病史的成员，并为高危个体提供癌症易感性突变基因检测。这两种参与策略是：1) 护理点筛查 (POC)，在患者安排预约时进行；2) 直接患者参与 (DPE)，其中外展活动为患者提供了在自己的时间在线完成筛查的机会。该研究将确定在初级保健诊所实施癌症风险风险评估和基因组测试期间和之后临床流程的变化、问题和低效率。它还将评估两种参与策略对患者、提供者和诊所领导者结果的影响，包括对参与策略和癌症风险评估和基因检测过程的好处、危害和满意度的看法，跨越性别、种族/民族、社会经济和遗传素养差异。最后，该研究将评估每个参与策略的成本效益和预算影响。
Identifying patients with high genetic risk for cancer has important clinical ramifications, but hereditary cancer risk is often not identified because of testing barriers at both the provider and patient level. It is unknown how to best implement appropriate genetic testing and follow-up care into an operating primary care clinic. Implementation studies to date have been conducted in high resourced facilities under optimal conditions, often not at the clinic level. This study aims to compare and evaluate two population-wide engagement strategies for identifying members of a primary care clinic’s population with a family or personal history of cancer and offering high-risk individuals genetic testing for cancer susceptibility mutations. The two engagement strategies are: 1) point of care screening (POC), conducted when a patient is scheduled for an appointment and 2) direct patient engagement (DPE), where outreach provides the patient an opportunity to complete screening online on their own time. The study will identify changes, problems, and inefficiencies in clinical flow during and after the implementation of risk assessment and genomic testing for cancer risk across primary care clinics. It will also evaluate the effects of the two engagement strategies on patient, provider, and clinic leader outcomes, including perceptions of benefits, harms, and satisfaction with the engagement strategy and process of cancer risk assessment and genetic testing, across gender, racial/ethnic, socioeconomic, and genetic literacy divides. Finally, the study will evaluate the cost-effectiveness and budget impact of each engagement strategy.
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DOI：
10.1186/1748-5908-4-50
发表时间：
2009-08-07
期刊：
Implementation science : IS
影响因子：
--
作者：
Damschroder LJ;Aron DC;Keith RE;Kirsh SR;Alexander JA;Lowery JC
通讯作者：
Lowery JC
DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
通讯作者：
--
影响因子：
5.2
作者：
Houwink, Elisa J. F.;van Teeffelen, Sarah R.;Cornel, Martina C.
通讯作者：
Cornel, Martina C.
影响因子：
3.5
作者：
Edwards, Tiffany A.;Thompson, Hayley S.;Valdimarsdottir, Heiddis B.
通讯作者：
Valdimarsdottir, Heiddis B.
影响因子：
2
作者：
Li, Fan;Turner, Elizabeth L.;DeLong, Elizabeth R.
通讯作者：
DeLong, Elizabeth R.