Genetics and Autism Literacy Survey (GALS)

National Human Genome Research Institute

Investigators

Linked publications, trials & patents

Abstract

With an increased presence of genetic information, an increased use of direct-to-consumer genetic testing, and rapid advancements within genomic research, there is an equivalent need to measure and increase genetic literacy within the general population. Defined as “the sufficient knowledge and understanding of genetic principles for individuals to make decisions that sustain personal well-being and effective participation in social decisions on genetic issues,” genetic literacy is an integral measure to examine and upkeep throughout those receiving genetic testing (Little ID et al., 2022). Previous research indicates that genetic literacy remains low even among those who have completed secondary education, and the Engagement Methods Unit (as part of the Social and Behavioral Research Branch, SBRB) aims to thoroughly measure specific components of this deficiency via the validation of our Genetic Literacy Scale (GLS) (Chapman R et al., 2019). In 2013, members of the SBRB at NHGRI conducted a survey to measure genetic literacy, finding that only 50% of the sample answered all questions correctly. Additionally, the survey revealed that individuals with higher genetic literacy rates reported increased confidence in their decision-making abilities, as did those exposed to more genetic testing information in the media (Abrams LR et al., 2016; Abrams LR et al., 2015). The EMU adapted this survey for further research in 2021, sending it to both a general population sample and to participants in Simon Powering Autism Research for Knowledge (SPARK), a research study for those diagnosed with autism (Feliciano P et al., 2018). Our aim was to examine the differences between the general population and SPARK populations' genetic literacy levels, as well as to obtain an updated measure of general genetic literacy in society. The results of the 2021 study showed that genetic literacy levels were significantly higher in the SPARK population, and overall genetic literacy levels were higher in the general population than when the study was last administered (Little ID et al., 2022). Utilizing participant feedback and results, this current survey aims to streamline and clarify the genetic literacy measure for optimal understanding of genetic literacy levels. After that study, the EMU thoroughly reviewed the 2021 measure and ameliorated issues regarding language, content, and outdatedness of specific statements. We also consulted experts in psychometrics, measures, scale development, and genetic literacy. While updated to reflect current language preferences and more accurate genetic understandings, the current GLS still includes the key components of measuring genetic literacy: familiarity, knowledge, and skills, making it the only survey to include a knowledge comprehension measure related to genetics (Daly & Kaphingst, 2023). The survey includes additional elements that explain genetics versus environment and their interactions, specifically in the context of a complex condition, aligning it more closely with our current understanding of the influence of genomics in such conditions. Additionally, this measure includes subscales to better investigate the relationship between genetic literacy and numeracy, opting for an objective numeracy measure as opposed to a subjective scale. This updated edition includes an open-ended question about the genetic facts and ideas that respondents find most integral to their daily lives, and a question pertaining to zip codes, allowing researchers to examine rural and urban living as factors of interest. The NHGRI research team designed this study to validate the GLS as an effective and thorough measure of genetic literacy. Our second study also allows us to replicate the 2021 administration of the GLS, in keeping with NIH’s restated priorities for reproducible and replicable biomedical sciences. In addition to validating and applying the GLS in different populations, the EMU is studying the effects of science communication on specific groups, focusing first on autistic people. We conducted a mixed-methods analysis of research abstracts associated with NIH-funded genetic and genomic autism research, to understand the prevalence of potentially ableist discourse and language (as identified by a review and commentary by a group of autistic and nonautistic autism researchers - see Bottema-Beutel K et al, 2021) and stigmatizing language about autistic people. We found that potentially ableist discourse and language and stigmatizing language is ubiquitous across abstracts for NIH-funded genetic and genomic autism research. We suggest that researchers must reflect on the way they describe and discuss autism in their work; use more inclusive language (as reflected in Bottema-Beutel et al); and engage with autistic communities to design and undertake the most ethical research and communication. This paper will be published in the journal Autism in 2025.