Knowing a bit of genetics can go a long way

Genetic testing is becoming increasingly popular and widely used. Direct-to-consumer genetic testing allows people to submit their DNA and receive reports estimating their risk of developing certain diseases and providing clues about their ancestry without going through healthcare providers. 

But people must have a basic understanding of genetics concepts to communicate this information to their healthcare provider and make educated health decisions.

In a recent study published in the American Journal of Human Genetics, researchers from the Engagement Methods Unit assessed genetic literacy in different populations to test their knowledge of genetics, as well as how effectively they can apply that knowledge. For example, participants were asked to rate how familiar they are with terms such as “chromosome” and “hereditary.”

The researchers surveyed over 2,000 individuals in the U.S. that represented the general population in terms of age, gender and educational level. They found that, on average, participants had moderate familiarity with genetics terms. Compared to the results from a similar 2013 survey, participants from the recent survey had improved scores. 

"The population’s understanding of genetics is generally lower than we’d like, but it has improved slightly over time,” says India Little, former predoctoral research fellow in the Engagement Methods Unit and current genetic counselling student at Johns Hopkins University, and first author of the study.

The researchers also surveyed over 2,000 people who were enrolled in a genetics study called the Simons Foundation Powering Autism Research (SPARK) study, which focuses on autism spectrum disorder. They found that these participants, which included autistic individuals and their family members, had higher genetic literacy rates. These results suggest that those who participate in genetics research have higher genetic literacy.

According to the researchers, the results of the study can inform the types of educational interventions that science communicators and educators might want to focus on in the future. 

“It is important to determine any gaps in knowledge or misconceptions as more people are asked to use genetic information to make health decisions,” says Little.

How does knowledge of genetics intersect with healthcare? 

Engagement Methods Unit researchers are also interested in understanding whether health care providers’ lack of familiarity with genetics or other factors are contributing to the low genetic testing rates in individuals diagnosed with autism. Autism, a broad group of developmental conditions that affect communication and social interactions, has clear genetic links. Clinical genetic testing is recommended after diagnosis to give families a more accurate diagnosis, help tailor their treatment plan and avoid unnecessary testing. But only a small fraction of these individuals actually pursues genetic testing.

To study why the rates of clinical genetic testing are low in this population, the researchers interviewed 14 healthcare providers across the U.S. They found that genetic testing included long waitlists, insurance barriers, difficulties in patient-provider interactions and cultural, emotional and logistical obstacles. 

“There’s a complex web of factors that contribute to low rates of genetic testing after an autism diagnosis,” says Amy Wang, a former postbaccalaureate fellow in Dr. Gunter’s group and first author of the study, published in PLoS One. “For example, many families felt overwhelmed at the time of the diagnosis, so many healthcare providers chose not to discuss genetic testing to their patients in order to make their recommendations more manageable.”

The healthcare providers, who were mostly Ph.D.-level psychologists, had positive or mixed views on genetic testing for autism, pointing out that genetic testing often did not change their clinical practice. Many of the healthcare providers would refer patients to research studies rather than for genetic testing, but research studies typically do not return genetic test results to the patients. 

The healthcare providers interviewed in the study also expressed the need to learn more about genetics. With the need to educate clinicians about genetic testing for autism, researchers can work with genetics educators to develop specific materials for the right populations who can benefit.

Importantly, the researchers emphasize taking into account the concerns of the autistic community about genetic testing being misused due to the history associated with eugenics and disabilities.

“We want to make sure people have access to the benefits of genetic applications,” says Dr. Gunter. “Our group often discusses the importance of listening to the community that we’re studying, such as the autistic community, and not just imposing our views on what they ‘should’ do’. That’s an evolving area that we, as scientists, must absolutely pay attention to.”

Science educators, healthcare professionals, policymakers and the public should strive to understand basic genetics concepts so that scientific advances benefit everyone, according to NHGRI’s 2020 strategic vision. Increasing genetic literacy may help address health disparities, attract more students to careers in genetics and popularize precision medicine. Science communicators should ensure that genetics is accessible, effective and scalable, as well as include both the science of genetics and its associated ethical and societal implications.

By equipping everyone with the knowledge and understanding needed for personal health decisions, we want to ensure that everyone can benefit equally from genetics and genomics.

Broader science communication efforts by NHGRI include the annual Short Course in Genomics as well as various educational resources, including factsheets, infographics and more. The Engagement Methods Unit also created an NIH-wide group which meets monthly to learn more about the science of science communication, with the goal of using data and research to improve how scientists explain and share their work.

“By equipping everyone with the knowledge and understanding needed for personal health decisions, we want to ensure that everyone can benefit equally from genetics and genomics,” says Dr. Gunter.