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Updated: Oct 3, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Development and evaluation of an exome sequencing training course for medical interpreters
Leslie Riddle1, Leah S Karliner2, Jennifer Livaudais-Toman3
1Department of Humanities & Social Sciences, University of California, San Francisco, San Francisco, CA 94143, USA.
Abstract:
Aim: As genomic medicine reaches more diverse populations, there is an increased need for healthcare interpreters who understand and can effectively interpret genomics concepts. Methods: We designed a course for healthcare interpreters on exome sequencing to enhance their preparedness for genomic results disclosure appointments in the Cancer Health Assessments Reaching Many (CHARM) study and beyond. The course was evaluated via pre/post surveys and qualitative interviews. Results: 23 interpreters completed the course; 87% rated it as excellent/very good. Improved pre/post confidence interpreting for genetics appointments was statistically significant; pre/post knowledge was not. Interviews highlighted the need for more discussion time. Conclusion: While the course increased confidence interpreting for exome sequencing results appointments, suggested modifications could enhance knowledge and retention of key concepts.
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