Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

作者: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
来源:Genetics in Medicine, 2015, 17(6): 485-492.
DOI:10.1038/gim.2014.134

摘要

Purpose: 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. Methods: 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. Results: 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. Conclusion: 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.

  • 出版日期2015-6