Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge

Purpose: As polygenic risk scores (PRSs) enter clinical practice, health care providers’ and the publics’ comprehension of PRS results are of great importance; yet, they are poorly understood. We present the Vanderbilt polygenic risk scores knowledge scale (Vanderbilt PRS-KS), a tool to quantify PRS...

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Main Authors: Doug Stubbs, Gillian W. Hooker, Yajing Li, Lucas Richter, Alexander Bick
Format: Article
Language:English
Published: Elsevier 2023-01-01
Series:Genetics in Medicine Open
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2949774423008312
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author Doug Stubbs
Gillian W. Hooker
Yajing Li
Lucas Richter
Alexander Bick
author_facet Doug Stubbs
Gillian W. Hooker
Yajing Li
Lucas Richter
Alexander Bick
author_sort Doug Stubbs
collection DOAJ
description Purpose: As polygenic risk scores (PRSs) enter clinical practice, health care providers’ and the publics’ comprehension of PRS results are of great importance; yet, they are poorly understood. We present the Vanderbilt polygenic risk scores knowledge scale (Vanderbilt PRS-KS), a tool to quantify PRS knowledge. Methods: The Vanderbilt PRS-KS was developed by a team of genetic counselors and physicians to cover key conceptual facts pertaining to PRSs. We recruited (n = 500) individuals with demographics representative of a U.S. sample and graduate-level health care students (n = 74) at a large academic medical center to participate in this validation study. We evaluated the Vanderbilt PRS-KS’s psychometric properties using confirmatory factor analysis and item response theory. Results: The 7-item Vanderbilt PRS-KS correlated to a single latent construct on confirmatory factor analysis (Λ = 0.31-0.61). The scale showed promising reliability (Cronbach’s α = 0.66) with item response theory summed scores of ≥2 to ≤5, demonstrating reliability >0.70. The Vanderbilt PRS-KS significantly correlated with genetic knowledge and applied PRS knowledge (r = 0.55 and r = 0.29), and graduate-level health care students scored significantly higher compared with the U.S. representative sample (P < .01). Conclusion: The Vanderbilt PRS-KS is a rigorously validated measure to quantify PRS knowledge. Clinicians should tailor future PRS knowledge interventions to the identified knowledge gaps, including PRS inheritance, equity of performance in different ethnicities, and integration with other health determinants.
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spelling doaj.art-fc808c84733843f585f46ecbc45def172024-01-27T07:13:37ZengElsevierGenetics in Medicine Open2949-77442023-01-0111100822Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledgeDoug Stubbs0Gillian W. Hooker1Yajing Li2Lucas Richter3Alexander Bick4Pathology, Microbiology, and Immunology, Vanderbilt University Medical Center, Nashville, TN; Correspondence and requests for materials should be addressed to Doug Stubbs, Vanderbilt University Medical Center, Vanderbilt Genetics Institute, RRB-550, 2200 Pierce Ave, Nashville, TN 37232.Concert Genetics, Nashville, TN; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TNDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TNDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TNDivision of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TNPurpose: As polygenic risk scores (PRSs) enter clinical practice, health care providers’ and the publics’ comprehension of PRS results are of great importance; yet, they are poorly understood. We present the Vanderbilt polygenic risk scores knowledge scale (Vanderbilt PRS-KS), a tool to quantify PRS knowledge. Methods: The Vanderbilt PRS-KS was developed by a team of genetic counselors and physicians to cover key conceptual facts pertaining to PRSs. We recruited (n = 500) individuals with demographics representative of a U.S. sample and graduate-level health care students (n = 74) at a large academic medical center to participate in this validation study. We evaluated the Vanderbilt PRS-KS’s psychometric properties using confirmatory factor analysis and item response theory. Results: The 7-item Vanderbilt PRS-KS correlated to a single latent construct on confirmatory factor analysis (Λ = 0.31-0.61). The scale showed promising reliability (Cronbach’s α = 0.66) with item response theory summed scores of ≥2 to ≤5, demonstrating reliability >0.70. The Vanderbilt PRS-KS significantly correlated with genetic knowledge and applied PRS knowledge (r = 0.55 and r = 0.29), and graduate-level health care students scored significantly higher compared with the U.S. representative sample (P < .01). Conclusion: The Vanderbilt PRS-KS is a rigorously validated measure to quantify PRS knowledge. Clinicians should tailor future PRS knowledge interventions to the identified knowledge gaps, including PRS inheritance, equity of performance in different ethnicities, and integration with other health determinants.http://www.sciencedirect.com/science/article/pii/S2949774423008312Polygenic risk scoreGenetic knowledgeGenomic risk scoreKnowledge scaleScale validation
spellingShingle Doug Stubbs
Gillian W. Hooker
Yajing Li
Lucas Richter
Alexander Bick
Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
Genetics in Medicine Open
Polygenic risk score
Genetic knowledge
Genomic risk score
Knowledge scale
Scale validation
title Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
title_full Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
title_fullStr Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
title_full_unstemmed Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
title_short Development and validation of the Vanderbilt PRS-KS, an instrument to quantify polygenic risk score knowledge
title_sort development and validation of the vanderbilt prs ks an instrument to quantify polygenic risk score knowledge
topic Polygenic risk score
Genetic knowledge
Genomic risk score
Knowledge scale
Scale validation
url http://www.sciencedirect.com/science/article/pii/S2949774423008312
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