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

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

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Article in BMC medical education, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

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2 · The registry

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0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

6 authors.

Stacy A JohnsonCenter for Individualized Medicine, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55902, USA. johnson.stacy3@mayo.edu.

Whitney S ThompsonCenter for Individualized Medicine, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55902, USA.

Robert A VierkantDepartment of Qualitative Health Services, Clinical Trials and Biostatistics, Mayo Clinic, Rochester, MN, USA.

Stephanie BrownDepartment of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.

Filippo Pinto E VairoCenter for Individualized Medicine, Mayo Clinic, 200 1st Street SW, Rochester, MN, 55902, USA.

Stephanie C MavisMayo Clinic Children's, Mayo Clinic, Rochester, MN, USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

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.

Indexed as

Clinical CompetenceEducational MeasurementGenomicsHumansReproducibility of ResultsGenomic educationGenomic report interpretationMedical educationPediatric trainees

Identifiers

PMID42449373

DOI10.1186/s12909-026-09898-x

PMCPMC13651121

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.