Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.
Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.
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DOI：
10.1007/s10897-018-0230-z
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发表时间：
2018-09
影响因子：
1.9
通讯作者：
Sweet K
中科院分区：
文献类型：
--
作者：
Schmidlen T;Sturm AC;Hovick S;Scheinfeldt L;Scott Roberts J;Morr L;McElroy J;Toland AE;Christman M;O'Daniel JM;Gordon ES;Bernhardt BA;Ormond KE;Sweet K
随着用于诊断适应症和疾病风险评估的广泛基因组测试的出现，越来越需要优化遗传咨询服务以支持精准医疗的可扩展提供。在这里，我们描述了如何运作遗传咨询实践的互惠参与模型，以开发用于提供基因组结果的咨询组成部分和策略的框架。该框架是基于对在线收到潜在可行的复杂疾病和药物基因组学报告后接受基因组咨询的患者进行的定性研究构建的。寻求与包括执业遗传咨询师在内的跨学科研究人员小组进行协商，以确保这些策略在任何大规模基因组测试工作中的广泛范围和适用性。我们保留孟德尔/单基因疾病遗传咨询实践中规定的测试前教育和知情同意的规定。收到基因组结果后，患者有机会通过选择他们希望讨论的具体测试结果、指定讨论问题并表明他们对咨询方式的偏好来定制咨询议程。遗传咨询师利用这些患者偏好来设置基因组咨询会议，并个性化结果沟通和降低风险的建议。定制的视觉辅助工具和结果总结报告划分了每种疾病的风险领域（遗传变异、家族史、生活方式），以便于讨论多种疾病风险。咨询后，会议总结报告会主动发送给患者及其医生团队，以鼓励审查和随访。鉴于基因组测试可能产生的基因组信息的广度，该框架被提出作为满足精准医学提供中可扩展的遗传咨询服务的需求的起点。
With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.
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影响因子：
1.7
作者：
DeFrank JT;Salz T;Reeder-Hayes K;Brewer NT
通讯作者：
Brewer NT
影响因子：
2.2
作者：
Albada, Akke;van Dulmen, Sandra;Ausems, Margreet G. E. M.
通讯作者：
Ausems, Margreet G. E. M.
影响因子：
1.9
作者：
Austin, Jehannine;Semaka, Alicia;Hadjipavlou, George
通讯作者：
Hadjipavlou, George
影响因子：
2
作者：
Bernhardt, Barbara A.;Roche, Myra I.;Skinner, Debra
通讯作者：
Skinner, Debra
影响因子：
8.8
作者：
Albada, Akke;van Dulmen, Sandra;Bensing, Jozien M.
通讯作者：
Bensing, Jozien M.