Challenges to Informed Consent for Exome Sequencing: A Best Worst Scaling Experiment

Genomics;Genetic Counseling;Genetic Counseling

Gore, Rachel HakimBiesecker, Barbara B. ;

Johns Hopkins University

关键词: Genomics;    Genetic Counseling;    Genetic Counseling;   

Others  :  https://jscholarship.library.jhu.edu/bitstream/handle/1774.2/59220/GORE-THESIS-2018.pdf?sequence=1&isAllowed=y

瑞士|英语

来源: JOHNS HOPKINS DSpace Repository

【 摘 要 】

Background: As exome sequencing expands as a diagnostic tool, patients and providers have voiced concerns about the breadth and scope of potential results. Particularly, genetic counselors perceive challenges to prioritizing complex information during informed consent sessions.Objectives: This study first sought to characterize challenges to the informed consent process for exome sequencing.Secondly, it aimed to understand how genetic counselors prioritize elements of obtaining consent for clinical exome sequencing, and thirdly, whether counselor factors influence prioritization. Methods: Aim one was addressed through a systematic review of the published literature from January 2010 to February 2017.Seventeen identified challenges culled from the review informed the development of a best worst scale (BWS) used to address aim two. Eleven attributes for the BWS task were finalized with input from two focus groups and were assembled into choice sets using a balanced incomplete block design.A survey presenting the BWS tasks and assessing perceptions of communication and target efficacy and tolerance for ambiguity alongside demographics was assembled to address aim three. The survey was distributed to members of the National Society of Genetic Counselors via their email listserv. BWS data was analyzed using a counts based method, and stratified analyses were run with two-tailed t tests controlling for reported counselor factors.Results: 342 genetic counselors completed the survey. Counselors with more experience ordering exome sequencing were significantly more likely to work in pediatrics and reported higher communication and target efficacy. Ranking of best-worst scores revealed that genetic counselors prioritize collaborative decision-making, assessing patient understanding and managing expectations, with the least emphasis placed on discussing technological complexities. Stratified analyses found that counselors with more exome experience, and those who reported higher target efficacy, were significantly more likely to prioritize discussion of variants of uncertain significance (p<0.05). Discussion: Genetic counselors perceive challenges in addressing the many complicated aspects of exome sequencing, particularly secondary findings and limitations of testing.Counselors report intentions to prioritize aspects of informed consent that focus on addressing individual patient needs.Additionally, participant characteristics influence discussion of potential uncertain results. Further research should explore how these priorities are exhibited in practice.