What do Patients Prefer: Informed Consent Models for Genetic Carrier Testing
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The recent increased number of conditions for which patients can undergo genetic carrier testing raises the question of how best to obtain pre-test informed consent. Clinical approaches vary from a minimalist model to a model where patients are given detailed information about all conditions to be screened for. Few data exist as to patient preferences, or how information impacts decision-making. Eight high-literacy focus groups were conducted to assess the knowledge and preferences of pregnant patients and their male partners. Most groups indicated that some balance between details and brevity was optimal, recognizing that anxiety can occur when patients are provided with too much information and that the wide range of tests offered during pregnancy often led to confusion. Critical areas for the informed consent process included (1) details about the conditions and risk of being a carrier, (2) logistics of testing, (3) next steps if the test is positive, and (4) prognosis, options and resources if the child were to be affected with a disorder. It will be useful to develop model consent programs and prospectively assess their impact on informed consent and patient satisfaction, both when positive and negative results are received.
KeywordsInformed consent Patient decision-making Genetic carrier test Patient expectations Generic consent
This work was funded by “Friends of Prentice.”. We also acknowledge Norman Ginsberg, Deb Wodell, Susan Hiraki, Megan Shepard Hinton, Carin Yates, and Catherine Stika for assistance in recruitment; Susan Hiraki for demographic data entry and assistance with focus groups; and Tybee Types for transcription services. We also thank Rob Golub, Carin Yates and members of the Medical Humanities and Bioethics Works in Progress group, particularly Katie Watson, for helpful discussions that influenced the study design and discussion.
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