Development and validity evidence of a knowledge assessment in genomics sequencing report interpretation for non-geneticist medical trainees

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. We developed and tested a multiple-choice exam to measure non-geneticists’ abilities in interpreting genomics sequencing reports. Our study shows this test accurately identifies different skill levels, helping educators better understand clinician preparedness.

Educational measurement · Genomic sequencing · Genomics · Medical knowledge · MEDLINE · BRCA gene mutations in cancer · Genetics, Bioinformatics, and Biomedical Research · Genomics and Rare Diseases