Bradbury Angela R, Patrick-Miller Linda, Long Jessica, Powers Jacquelyn, Stopfer Jill, Forman Andrea, Rybak Christina, Mattie Kristin, Brandt Amanda, Chambers Rachelle, Chung Wendy K, Churpek Jane, Daly Mary B, Digiovanni Laura, Farengo-Clark Dana, Fetzer Dominique, Ganschow Pamela, Grana Generosa, Gulden Cassandra, Hall Michael, Kohler Lynne, Maxwell Kara, Merrill Shana, Montgomery Susan, Mueller Rebecca, Nielsen Sarah, Olopade Olufunmilayo, Rainey Kimberly, Seelaus Christina, Nathanson Katherine L, Domchek Susan M
1] Division of Hematology-Oncology, Department of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA [2] Department of Medical Ethics and Health Policy, University of Pennsylvania, Philadelphia, Pennsylvania, USA [3] Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
1] Division of Hematology-Oncology, Department of Medicine, The University of Chicago, Chicago, Illinois, USA [2] Center for Clinical Cancer Genetics and Global Health, The University of Chicago, Chicago, Illinois, USA.
Genet Med. 2015 Jun;17(6):485-92. doi: 10.1038/gim.2014.134. Epub 2014 Oct 9.
Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies.
Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing.
In this model, tier 1 "indispensable" information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is "binned" into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing.
A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice.Genet Med 17 6, 485-492.
多重基因检测，包括用于癌症易感性的中度和高度显性基因检测，比传统检测具有更大的不确定性，给知情同意和遗传咨询带来了挑战。我们试图为四项正在进行的研究开发一种新的知情同意和遗传咨询模式。
一个多学科小组借鉴专业指南、文献、概念框架和临床经验，开发了一种分层分类的遗传咨询方法，旨在促进知情同意并改善癌症易感性多重检测的结果。
在该模式中，向所有患者提供第1层“必不可少”的信息。提供更具体的第2层信息以满足不同患者群体的不同信息需求。将临床相关信息“分类”成组，以尽量减少信息过载，支持知情决策，并促进对检测的适应性反应。提供知情同意的七个基本要素，以应对多重检测的独特局限性、风险和不确定性。
一种分层分类 的知情同意和遗传咨询模式有潜力应对癌症易感性多重检测的挑战，并支持知情决策和对检测的适应性反应。需要包括患者报告结果在内的未来前瞻性研究，以指导如何最好地将癌症易感性多重检测纳入临床实践。《遗传医学》17卷6期，485 - 492页。
