Understanding the Role of Genetic Literacy on Genetic Testing Perceptions for Autism Spectrum Disorder
Genetic literacy, or one’s understanding of genetic principles and their ability to apply them to personal health-care decisions, is an increasingly vital tool in today’s world (Abrams et al., 2015). As genetic sequencing becomes more widely available, applications for genetic information expand, and individuals are increasingly offered genetic testing as part of their own or their family’s healthcare plan. Unfortunately, genetic literacy is poor worldwide: a 2018 study found only 1.2% of over 5000 participants in 78 countries who received at least a secondary education could correctly answer a series of questions about genetics (Chapman et al., 2018).
Genetic literacy, or one’s understanding of genetic principles and their ability to apply them to personal health-care decisions, is an increasingly vital tool in today’s world...
The importance of increased genetic literacy in the 21st century can be seen with celebrities and advancing technology. Increased media exposure to genetic decision-making can also increase public awareness of genetic medicine and increase genetic testing uptake (Abrams et al., 2015). For example, Angelina Jolie’s decision to undergo a prophylactic mastectomy after a genetic test revealed a BRCA1 gene mutation caused public interest in preventative testing to skyrocket (Abrams et al., 2015). However, individuals can be overwhelmed by media exposure to genetic information with no lens to interpret it or determine if it's applicable to their health (Abrams et al., 2015). As genetic sequencing becomes faster, cheaper, and more accessible (Chapman et al., 2018), tests which rely on genetic information will only continue to increase on the market, requiring consumers to discern what is necessary for their own health (Abrams et al., 2015). In the clinical context, improved genetic literacy among both patients and providers can help improve communication and potential decision-making processes (Erby et al., 2008). In addition to understanding medical jargon, greater genetic literacy among the public can help them better understand treatment options for genetic conditions and enable greater understanding and coping when faced with potentially distressing information (Erby et al., 2008; Krakow et al., 2018). Improved genetic literacy among clinicians can help them better use novel genetic technology (Milo Rasouly et al., 2020), and manage genetic diseases with diagnostic measures (Mboowa & Sserwadda, 2019).
improved genetic literacy among both patients and providers can help improve communication and potential decision-making processes...
Although further research is needed, improving genetic literacy could potentially shift perceptions on genetic testing. Greater genetic literacy can lead to increased awareness of genetic tests and even improve attitudes towards testing use, particularly in clinical examples for relatively common conditions such as autism spectrum disorder, or ASD (Little & Gunter, 2021). This may be because higher genetic literacy indicates a better understanding of technical language, such as the jargon a clinician may use when administering or explaining results from a genetic test (Hooker et al., 2014). This understanding can help inform the consent-to-testing process, helping individuals feel more in control in both choosing a genetic test as well as interpreting the results (Hooker et al., 2014). A greater understanding of the testing process and results can help people feel more prepared, potentially increasing interest in preventative genetic testing (Chapman et al., 2018).
Genetic Testing for Autism Spectrum Disorder
ASD is a prominent clinical example where genetic literacy is particularly important. ASD is a neurodevelopmental condition caused by both genetic and environmental factors that present as impaired social skills, restricted and repetitive interests, and is sometimes accompanied by developmental delays and other comorbidities (DeThorne & Ceman, 2018). ASD is considered a relatively common condition, with 1 in 54 children in the US meeting the diagnostic threshold (Maenner et al., 2020), and the high level of heritability means that genetic tests can provide diagnostic and prognostic information for a percentage of people with ASD. Although the average age of diagnoses is 4.25 years (Maenner et al., 2020) distinctive behaviors can often be observed in infancy (Ventola et al., 2006). In order to reach a formal diagnosis, a patient must exhibit behaviors in three distinct categories: restricted interests, impairments in communication, and difficulty with social interaction. This means that proper diagnosis and ruling out other conditions both require trained, specialized healthcare providers. Early diagnoses can facilitate participation in early support programs created specifically for toddlers that have been shown to improve peer interactions, increase IQ, and increase language function (Ventola et al., 2006).
Because ASD has strong genetic influences, genetic testing is recommended by major professional organizations, including the American College of Medical Genetics and Genomics and the American Academy of Pediatrics. Genetic testing for ASD can help identify etiology and other potential genetic comorbidities that often accompany ASD such as epilepsy, anxiety, or sleep disorders (Xiong et al., 2019; Chen et al., 2013). In addition to helping create a medical and/or behavioral support plan, genetic testing can help confirm a diagnosis early while preventing unnecessary, expensive, and potentially painful diagnostic tests (Savatt & Meyers, 2021). Beyond advancing research in the genetic causes of autism and the specific mutations involved, genetic testing can connect families to a greater network of resources and support within the autistic community (DeThorne & Ceman, 2018). Genetic testing results can help relieve parents’ feelings of guilt, increase feelings of control, and even improve coping and acceptance related to the diagnosis (Reiff et al., 2017). A family can also use the results of a genetic test to assess their own risk, and the risk for future children of genetic conditions including ASD (Chen et al., 2013).
Genetic testing results can help relieve parents’ feelings of guilt, increase feelings of control, and even improve coping and acceptance related to the diagnosis...
While many families are interested in this testing, uptake remains low because they face many barriers: lack of insurance or referrals, difficulty in getting a referral for the right test, challenges for their child in getting to the test site or having a blood draw, and/or many other potential factors. Or, families may intentionally choose not to test, often because chromosomal microarrays or CMAs, the first-tier test for ASD, only reveal a diagnostic result about 15-20% of the time (Savatt & Myers, 2021). This can increase stress for patients awaiting or interpreting results, as a negative result does not change their diagnosis nor indicate a complete lack of genetic risk. However, the next logical option for genetic testing is whole exome sequencing, which can return diagnostic results for neurodevelopmental disorders in as high as 36% of cases (Srivastava et al., 2019). Even if results are not conclusive, they can help providers identify areas of need or support for the individual. Despite sometimes uncertain results, over 60% of families reported that their genetic testing was moderately to very helpful to their child or family (Reiff et al., 2015). In order to increase uptake of genetic testing, further research is needed to investigate the link between genetic literacy and genetic testing perceptions for ASD. Families with a more thorough understanding of the environmental and genetic risk factors associated with ASD were more open to the idea of testing, presumably due to improved genetic literacy (Floyd & Xu, 2017). In addition, psychiatrists and families who received genetic testing for ASD self-reported an overall higher genetic literacy compared to those who did not receive/order testing (Soda et al., 2021).
With higher genetic literacy, families may better understand both the balance between genetic and environmental causes of ASD and how genetic testing can benefit them...
Previous research indicates a possible relationship between genetic literacy and the likelihood of genetic testing for ASD. This may be because genetic literacy increases the understanding of the full implication of a genetic test—all the benefits of testing as stated above along with carefully weighed risks (i.e. inconclusive results). With higher genetic literacy, families may better understand both the balance between genetic and environmental causes of ASD and how genetic testing can benefit them.
Improving genetic literacy among both patients and healthcare providers in relation to ASD is vital. Providers with increased genetic literacy are better able to determine the appropriate genetic tests and explain the results, easing psychological stress (Reiff et al., 2017). Higher genetic literacy among patients indicates a better understanding of the genetic jargon used in the genetic testing process, leading to a better-informed consenting to testing process, helping people better understand the results and feel in control of their own healthcare.
An increased understanding of genetic literacy among the general public as it relates to ASD could help destigmatize neurodevelopmental disorders such as ASD and increase neurodiversity awareness. Previous studies link parental stigma with a lower understanding of genes and inheritance, so a higher genetic literacy can reduce stigma related to the etiology of ASD, for both parents and the general public (Salleh et al., 2020). With a better understanding of how language can frame a topic such as autism, people with a higher genetic literacy using correct genomic language can help fight the stigma of this condition and those like it. Rather than using language based on strictly deficits, using a combination of strengths and weaknesses stemming from a higher genetic literacy can reframe what it means to have ASD (Gillespie-Lynch et al., 2017). In addition, research should follow the lead of the autistic community, by using identity-first language versus person-first language as it is preferred (Gillespie-Lynch et al., 2017). Future studies should examine a potential correlation between genetic literacy engagement and perceptions on genetic testing for ASD, while involving autistic populations in the research process to ensure sufficient collaboration and communication.
About the Author
Maureen (Molly) Merlo-Coyne is an undergraduate student at the University of Maryland, College Park. She is planning on majoring in Biology or Bio-medical engineering. She interned at the Engagement Methods Unit within the Social and Behavioral Research Branch in the NHGRI, and discovered her interests in neurodevelopmental conditions and genetics.
India Little graduated from Davidson College in 2019 and is currently a postbaccalaureate research assistant in the National Human Genome Research Institute. She is interested in studying genetic literacy for autism spectrum disorder and plans to attend a genetic counseling program.