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Updated: May 23, 2025
Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Piloting an Educational Module on Consenting for Exome Sequencing Among Non-Genetics Physicians at a Medical
Amanda K Chan1,2,3,4,5, Kelsie Bogyo1,2,3,4,5, Alexa R Geltzeiler1,2,3,4,5
1Ms. Chan: Genetic Counselor, Department of Neurology, Taub Institute for Research, Columbia University, New York, NY.
Introduction:
Demand for genetic testing has expanded exome sequencing (ES) utilization into subspecialty clinics without genetics providers. This trend forces non-genetics physicians (NGPs) to facilitate patient consent for genetic testing. However, research on NGPs' knowledge of consent elements (CK) required for ES has not been explored.
Methods:
Columbia University NGPs were invited to take a survey (premodule survey [PrS]) assessing CK for ES. Educational modules on ES were then created and sent to NGP participants. A postmodule survey (PoS) was sent to NGPs a month later to assess the change in CK scores. Alpha was set at ≤0.05.
Results:
Nineteen participants completed the PrS and PoS. Overall PrS CK scores were low (mean = 8, SD 1.6). There was no difference in PrS CK scores between attendings and residents/fellows (P = .2), and PrS CK scores did not correlate with time since medical school graduation (P = .9). PoS CK scores were higher than PrS CK scores (P = .03). Most NGPs (74%) were satisfied with the module.
Conclusions:
Our findings suggest a need for continuing education of both new and experienced NGPs on best practices for consenting for ES. An online module with information tailored to different specialties could be an effective format for delivering this education.
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