Measuring genetic knowledge: A brief survey instrument for adolescents and adults

S. M. Fitzgerald-Butt, A. Bodine, K. M. Fry, J. Ash, A. N. Zaidi, V. Garg, C. A. Gerhardt, K. L. Mcbride

Research output: Contribution to journalArticlepeer-review

27 Scopus citations


Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge measure. The 18-item measure was completed by parents of children with congenital heart defects (CHD) (n=465) and adolescents and young adults with CHD (age: 15-25, n=196) with a mean total correct score of 12.6 [standard deviation (SD)=3.5, range: 0-18]. Utilizing exploratory factor analysis, we determined that one to three correlated factors, or abilities, were captured by our measure. Through confirmatory factor analysis, we determined that the two factor model was the best fit. Although it was necessary to remove two items, the remaining items exhibited adequate psychometric properties in a multidimensional item response theory analysis. Scores for each factor were computed, and a sum-score conversion table was derived. We conclude that this genetic knowledge measure discriminates best at low knowledge levels and is therefore well suited to determine a minimum adequate amount of genetic knowledge. However, further reliability testing and validation in diverse research and clinical settings is needed.

Original languageEnglish (US)
Pages (from-to)235-243
Number of pages9
JournalClinical Genetics
Issue number2
StatePublished - Feb 1 2016
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2016 John Wiley & Sons A/S.


  • Factor analysis, statistical
  • Genetic testing
  • Health knowledge, attitudes, and practice
  • Heart defects, congenital
  • Psychometrics


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