Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication.
Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication.
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DOI：
10.1007/s10897-017-0176-6
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发表时间：
2018-04
影响因子：
1.9
通讯作者：
Williams MS
中科院分区：
文献类型：
--
作者：
Williams JL;Rahm AK;Zallen DT;Stuckey H;Fultz K;Fan AL;Bonhag M;Feldman L;Segal MM;Williams MS
这项研究的目的是“测试增强型基因组报告在以患者为中心的结果领域（包括沟通、参与和满意度）的有效性。”“研究设计利用”全基因组测序结果报告GenomeCOMPASS™的前瞻性、随机化、混合方法描述性研究，提供者通过电子健康记录访问该报告，患者通过相关的患者门户网站访问该报告。这项研究是在宾夕法尼亚州中部的一个综合医疗保健系统中进行的。46名患有未确诊的智力残疾、自闭症谱系障碍和/或多种先天性异常的儿童的“84名”父母被邀请参加先前为他们受影响的儿童提供全基因组测序的研究。52名家长报名。在传统的遗传学结果通知访问之后，研究协调员根据诊断结果和无信息结果对家庭进行分层，然后将每组中的家庭随机分配到干预组以接收GenomeCOMPASS™报告或常规护理组以接收医学遗传学家的总结信。邀请入组的信件包括基线调查，一旦返回，即构成入组。在遗传学访视后3个月进行调查。在6个月时，常规护理臂交叉接受干预，并在3个月时进行额外的调查。在调查完成后进行定性访谈，以增加有关以患者为中心的关注结果的调查数据。患者报告的结局包括沟通、参与、授权和满意度。在干预组中，向14个家庭（N = 28名父母）发布了GenomeCOMPASS™报告，其中21个（75%）返回了3个月的调查。在常规护理组中，12个家庭（N = 24名父母）收到了常规护理总结信，其中20个家庭（83%）返回了3个月的调查。在交叉时，GenomeCOMPASS™报告发布给20名个体，15名（75%）返回了3个月的调查。定性访谈进行了5个人。这一小群父母报告说，使用GenomeCOMPASS™报告改善了与提供者和非卫生专业人员（如教育工作者和治疗师）的沟通，并提高了参与度和满意度。提供者和其他参与儿童护理的人也认可了报告的有效性。关于负面调查结果的报告，即没有提供信息的结果，被认为没有用处。虽然用户的数量很少，这项研究支持，可定制的模板报告可以提供一个有用的和持久的信息来源，可以支持和增强遗传学专业人员在传统的面对面的接触提供的信息。试验注册：Clinicaltrials.gov（记录2013-0594）。本文的在线版本（10.1007/s10897-017-0176-6）包含补充材料，可供授权用户使用。
“The objective of this study was to” test the effectiveness of an enhanced genomic report on patient-centered outcome domains including communication, engagement and satisfaction. “Study design utilized” a prospective, randomized, mixed-methods desctiptive study of a whole genome sequencing results report, GenomeCOMPASS™, that was accessed by providers through the electronic health record and by patients through the associated patient portal. “The study was set in” an integrated healthcare delivery system in central Pennsylvania. “Eighty-four” parents of 46 children with undiagnosed Intellectual Disability, Autism Spectrum Disorder and/or multiple congenital anomalies who had participated in a previous study offering whole genome sequencing for their affected child were invited to enroll. Fifty-two parents enrolled. Following a traditional genetics results informing visit, the study coordinator stratified families by diagnostic result and uninformative result and then randomized families within each group to an intervention arm to receive the GenomeCOMPASS™ report or to the usual care arm to receive a summary letter from the medical geneticist. A letter inviting enrollment included a baseline survey, which once returned, constituted enrollment. Surveys were administered at 3 months post-genetics visit. At 6 months, the usual care arm crossed over to receive the intervention and were administered an additional survey at 3 months. Qualitative interviews were conducted following survey completion to augment the survey data regarding the patient centered outcomes of interest. Patient reported outcomes including communication, engagement, empowerment and satisfaction. In the intervention arm, GenomeCOMPASS™ reports were released to 14 families (N = 28 parents) and of those 21 (75%) returned 3 month surveys. In the usual care arm, 12 families (N = 24 parents) received usual care summary letters and of those 20 (83%) returned 3 month surveys. At crossover, GenomeCOMPASS™ reports were released to 20 individuals and 15 (75%) returned 3 month surveys. Qualitative interviews were conducted with 5 individuals. Use of the GenomeCOMPASS™ report was reported by this small group of parents to improve communication with providers and non-health professionals such as educators and therapists and led to increased engagement and high satisfaction. Providers and others involved in the children’s care also endorsed the report’s effectiveness. Reports that addressed negative findings, i.e. uninformative results, were not found to be useful. Although the number of users was small, this study supports that customizable template reports may provide a useful and durable source of information that can support and enhance the information provided by genetics professionals in traditional face-to-face encounters. Trial registration: Clinicaltrials.gov (Record 2013–0594). The online version of this article (10.1007/s10897-017-0176-6) contains supplementary material, which is available to authorized users.
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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：
3.6
作者：
Brehaut, JC;O'Connor, AM;Feldman-Stewart, D
通讯作者：
Feldman-Stewart, D
影响因子：
5.7
作者：
Chew, Lisa D.;Griffin, Joan M.;VanRyn, Michelle
通讯作者：
VanRyn, Michelle
影响因子：
8.8
作者：
Kalia, Sarah S.;Adelman, Kathy;Miller, David T.
通讯作者：
Miller, David T.
影响因子：
2
作者：
Williams, Janet L.;Rahm, Alanna Kulchak;Williams, Marc S.
通讯作者：
Williams, Marc S.