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Updated: Jul 16, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Development and validity evidence of a knowledge assessment in genomics sequencing report interpretation for
Stacy A Johnson1, Whitney S Thompson2,3,4, Robert A Vierkant5
1Center for Individualized Medicine, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55902, USA. johnson.stacy3@mayo.edu.
Abstract:
Clinicians are increasingly expected to interpret genomic sequencing reports, yet tools to assess the proficiency of non-geneticist medical trainees in this important skill are lacking. This study aimed to develop a multiple-choice test to evaluate non-geneticist trainees' knowledge and skill in interpreting genomic reports and to systematically gather sufficient validity evidence supporting its use. An iterative, expert-informed yet practical approach was employed to design and refine the assessment, with validity evidence analyzed according to Messick's framework. The final 27-item test demonstrated excellent internal consistency (Cronbach's alpha = 0.9), and significant differences were seen between participant groups, with test scores correlating with participants' level of expertise. These findings support the utility of this assessment as a robust, low-stakes measure of genomic sequencing report interpretation skills among non-geneticist medical trainees.
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