Development and Validation of a Genomic Knowledge Scale to Advance Informed Decision Making Research in Genomic Sequencing

Overview

Journal MDM Policy Pract

Publisher Sage Publications

Specialty General Medicine

Date 2018 Jun 22

PMID 29928697

Citations 24

Authors

Michelle M Langer

Myra I Roche

Noel T Brewer

Jonathan S Berg

Cynthia M Khan

Cristina Leos

Elizabeth Moore

Michelle Brown

Christine Rini

Affiliations

Soon will be listed here.

Abstract

Background: This study evaluated the psychometric properties of a new, comprehensive measure of knowledge about genomic sequencing, the University of North Carolina Genomic Knowledge Scale (UNC-GKS).

Methods: The UNC-GKS assesses knowledge in four domains thought to be critical for informed decision making about genomic sequencing. The scale was validated using classical test theory and item response theory in 286 adult patients and 132 parents of pediatric patients undergoing diagnostic whole exome sequencing (WES) in the NCGENES study.

Results: The UNC-GKS assessed a single underlying construct (genomic knowledge) with good internal reliability (Cronbach's alpha = 0.90). Scores were most informative (able to discriminate between individuals with different levels of genomic knowledge) at one standard deviation above the scale mean or lower, a range that included most participants. Convergent validity was supported by associations with health literacy and numeracy (s=0.41-0.46). The scale functioned well across subgroups differing in sex, race/ethnicity, education, and English proficiency.

Discussion: Findings supported the promise of the UNC-GKS as a valid and reliable measure of genomic knowledge among people facing complex decisions about WES and comparable sequencing methods. It is neither disease- nor population-specific, and it functioned well across important subgroups, making it usable in diverse populations.

Citing Articles

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

Stubbs D, Hooker G, Li Y, Richter L, Bick A Genet Med Open. 2024; 1(1):100822.

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Genetics Navigator: protocol for a mixed methods randomized controlled trial evaluating a digital platform to deliver genomic services in Canadian pediatric and adult populations.

DAmours G, Clausen M, Luca S, Reble E, Kodida R, Assamad D BMJ Open. 2024; 14(9):e090084.

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Assessing pharmacogenomic literacy in China through validation of the Chinese version of the Minnesota Assessment of Pharmacogenomic Literacy.

Zhang L, Zhou S, Allen J, Wang F, Pittenger A, Bishop J Clin Transl Sci. 2023; 16(11):2356-2368.

PMID: 37721333 PMC: 10651651. DOI: 10.1111/cts.13637.

Japanese Translation and Validation of Genomic Knowledge Measure in the International Genetics Literacy and Attitudes Survey (iGLAS-GK).

Yoshida A, Tokutomi T, Fukushima A, Chapman R, Selita F, Kovas Y Genes (Basel). 2023; 14(4).

PMID: 37107572 PMC: 10137569. DOI: 10.3390/genes14040814.

Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?.

Talati A, Gilmore K, Hardisty E, Lyerly A, Rini C, Vora N Prenat Diagn. 2023; 43(5):569-578.

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