ELSIcon2022 • Flash • May 27, 2022
Brianne Daly, Kimberly Kaphingst
Genetic literacy, a construct often thought of as genetics-related knowledge and skills, is critical to individuals being able to participate in making informed decisions about genetic testing and follow-up care. As genetic and genomic testing becomes more widely available to diverse and medically underserved populations, genetic literacy is likely to become even more important. To investigate the role of genetic literacy in access to and patient outcomes from genetic testing, a common definition and psychometrically sound measures are necessary. We conducted a systematic review to examine definitions and measurement of genetic literacy in the research literature. Eight databases were systematically searched for studies that used quantitative measures of genetic literacy. 902 unique records were identified; of these, 90 papers, 1 poster, and 3 abstracts were included in the review. We found widely varying author definitions of genetic literacy, as well as discrepancies between the definitions and content of measures used. The measures of genetic literacy varied widely in terms of characteristics such as number of items, format, and content, and in terms of reporting on steps taken to examine the reliability and validity of measures. There is a pressing need for a common definition of genetic literacy and psychometrically robust measures to assess genetic literacy in various populations and contexts. Such efforts will allow a better understanding of the role of genetic literacy in the care of diverse patient populations and the development of effective interventions to improve autonomy and outcomes for patients with varying levels of genetic literacy.