Implementing the moon: Getting genomic testing to the public

实施月球：向公众进行基因组测试

基本信息

批准号：
10228866
负责人：
ELIZABETH MARY SWISHER
金额：
$ 13.49万
依托单位：
UNIVERSITY OF WASHINGTON
依托单位国家：
美国
项目类别：
财政年份：
2019
资助国家：
美国
起止时间：
2019-09-20 至 2024-08-31
项目状态：
已结题

来源：
https://reporter.nih.gov/project-details/10228866
关键词：
Academic Medical Centers Adherence Appointment Area Benefits and Risks Breast Caring Clinic Clinical Clinical Data Clinical Practice Guideline Colon Communication Communities Complex Counseling Data Diagnosis E-learning Elements Family Financial Hardship Gender Genetic Genetic Risk Genomics Grant Guidelines Health system Healthcare Healthcare Systems Hereditary Malignant Neoplasm Individual Knowledge Letters Malignant Neoplasms Medical Methods Moon Mutation Online Systems Outcome Ovary Patient Care Patients Population Practice Guidelines Predisposition Primary Health Care Primary Prevention Process Provider Quality of Care Recording of previous events Reporting Research Resources Risk Risk stratification Screening for cancer Screening procedure Structure System Tablets Testing Visit Woman aged base budget impact cancer diagnosis cancer prevention cancer risk clinical implementation comparative efficacy cost effectiveness design follow-up genetic information genetic testing health care settings hereditary risk high risk implementation research improved innovation literacy medical specialties member men mortality patient engagement patient population patient screening patient-level barriers point of care population based prevent provider-level barriers racial and ethnic randomized trial response risk perception satisfaction screening social stigma socioeconomics testing services transmission process web site

项目摘要

Project Summary/Abstract Genetics reports on 22 areas of clinical practice guidelines on how to use genetic tests, based on data that clinical outcomes are enhanced or improved by regular use. Current practice guidelines from ACMG provide referral indications for cancer predisposition assessment. Identifying patients with high genetic risk for breast, ovary, colon, or other cancers has important clinical ramifications for an individual's healthcare, but genetic risk if often not identified because of testing barriers at several levels. Barriers at the provider level include inadequacies in risk recognition, patient referrals and availability of genetic professionals to provide counseling in a traditional testing paradigm. Barriers at the level of the patient include poor understanding of the availability and benefits of testing and inadequate access to testing services. How to best implement appropriate genomic testing and follow-up care into an operating healthcare system is not known. Issues of communication, clinical flow, reportable actions, and transmission of information and support are of critical importance, and must change and grow to accommodate the new information contained within genomic testing. Studies to date of the implementation process have been conducted in high resourced facilities, under optimal conditions, often not at the system level. Aims include: 1. Compare the efficacy and implementation of two strategies for identifying members of a primary care clinic's population who have a family or personal history of cancer and offering high-risk individuals to obtain genetic testing for cancer susceptibility mutations in a randomized trial. The two methods are: 1) Point of Care (POC) approach: A tablet-based screening for family/personal history of cancer will be offered to all patients aged 25- 65 coming in for a routine appointment at the clinic. 2) Direct Patient Engagement (DPE): Letters will be sent to all individuals aged 25-65 in a clinic's population, inviting them to visit a web site for screening for family /personal history of cancer. In both strategies, those determined to be high-risk will receive online education about genetic testing and an invitation to obtain such testing through a web-based platform. Outcomes will be the fraction of the active clinic patient population that completes screening and the fraction of the active clinic patient population that undergoes testing. 2. Identify changes, problems, and inefficiencies in clinical flow and interactions during and after the implementation of genomic testing for cancer risk across primary care clinics. 3. Evaluate the effects of two methods of implementation of genomic screening for cancer risk on patient, provider, and health system leader reports of benefits and harms, satisfaction, perceived quality of care, including across gender, racial/ethnic, socioeconomic, and genetic literacy divides. 4. Evaluate the value (cost-effectiveness) and affordability (budget impact) of each screening strategy.

项目概要/摘要 Genetics 报告了 22 个领域的临床实践指南，内容涉及如何使用基因检测，其数据基于以下数据：经常使用可以增强或改善临床结果。 ACMG 当前的实践指南提供癌症易感性评估的转诊指征。识别具有乳腺高遗传风险的患者，卵巢癌、结肠癌或其他癌症对个人的医疗保健具有重要的临床影响，但遗传风险如果由于多个级别的测试障碍而经常无法识别。提供商层面的障碍包括风险识别、患者转诊和遗传专业人员提供咨询方面的不足在传统的测试范式中。患者层面的障碍包括对疾病的了解不足测试的可用性和好处以及测试服务的获取不足。如何最好地实施对正在运行的医疗保健系统进行适当的基因组测试和后续护理尚不清楚。的问题沟通、临床流程、可报告的行动以及信息和支持的传输至关重要重要性，并且必须改变和发展以适应基因组中包含的新信息测试。迄今为止，实施过程的研究是在资源丰富的设施中进行的，最佳条件，通常不是在系统级别。目标包括： 1. 比较两种识别初级保健诊所成员的策略的有效性和实施情况有癌症家族史或个人病史并为高风险个体提供遗传信息的人群在随机试验中测试癌症易感性突变。这两种方法是： 1) 护理点 (POC) 方法：将为所有 25 岁以下的患者提供基于平板电脑的癌症家族/个人史筛查 65 来诊所进行例行预约。 2) 患者直接参与 (DPE)：信件将发送至诊所人口中所有 25-65 岁的个人，邀请他们访问网站进行家庭筛查 /个人癌症史。在这两种策略中，那些被确定为高风险的人将接受在线教育关于基因测试以及通过网络平台获得此类测试的邀请。结果将是完成筛查的活跃诊所患者群体的比例以及活跃诊所的比例接受测试的患者群体。 2. 识别治疗期间和治疗后临床流程和互动中的变化、问题和低效率在初级保健诊所实施癌症风险基因组检测。 3. 评估两种实施癌症风险基因组筛查的方法对患者的影响，提供者和卫生系统领导者报告益处和危害、满意度、感知的护理质量、包括跨越性别、种族/民族、社会经济和遗传素养的鸿沟。 4. 评估每个筛选策略的价值（成本效益）和承受能力（预算影响）。

项目成果

期刊论文数量（2）

专著数量（0）

科研奖励数量（0）

会议论文数量（0）

专利数量（0）

Socioeconomic Status and Interest in Genetic Testing in a US-Based Sample.

美国样本中的社会经济状况和对基因检测的兴趣。

DOI：
发表时间：
2022-05-10
期刊：
影响因子：
0
作者：
Dusic, E J;Bowen, Deborah J;Bennett, Robin;Cain, Kevin C;Theoryn, Tesla;Velasquez, Mariebeth;Swisher, Elizabeth;Brant, Jeannine M;Shirts, Brian;Wang, Catharine
通讯作者：
Wang, Catharine

Design of a study to implement population-based risk assessment for hereditary cancer genetic testing in primary care.

设计一项研究，对初级保健中的遗传性癌症基因检测实施基于人群的风险评估。

DOI：
发表时间：
2021
期刊：
影响因子：
2.2
作者：
Bowen, Deborah J;Wang, Catharine;Cole, Allison M;Norquist, Barbara M;Knerr, Sarah;Devine, Beth;Shirts, Brian;Cain, Kevin;Harris, Heather M;Haile, Helen G;Swisher, Elizabeth M
通讯作者：
Swisher, Elizabeth M