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<p>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.</p>

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

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年7月15日

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  • Stacy A. Johnson,
  • Whitney S. Thompson,
  • Robert A. Vierkant,
  • Stephanie Brown,
  • Filippo Pinto e Vairo,
  • Stephanie C. Mavis

摘要

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.