If you haven’t encountered genetic testing in your own healthcare, just wait. The era of genomic medicine is here. But with a population that has received little education about DNA and genes, how are we going to make sense of this new stream of information?
Genomic literacy gets a lot of attention in the scientific community. At the recent annual meeting of the American Society of Human Genetics (ASHG), a panel discussion on the topic focused on the limited understanding of genetics among students, teachers, the general public, and even healthcare providers. Here are a few takeaways, including specific challenges panelists agreed that we must confront:
In education, there’s a popular view that the best way for someone to retain new information is to scaffold it onto her existing knowledge. But how do we give people new information about genetics if they don’t have a foundation to build on?
I’ve witnessed this firsthand. I once attended an educational workshop about genetics at my local library. The speaker showed us pictures of three ethnically diverse people and asked the audience to guess how much of their DNA was shared by all three people. Most attendees chose the same multiple choice option: 34%. But the truth is, all humans have DNA that’s more than 99% identical. In fact, we share more than 34% of our genes with bananas.
That moment at the library illustrates just how unfamiliar the general public is with DNA and genetics (and, I can assure you, supports the findings of countless surveys and studies). It’s not about intelligence: even the smartest people in the U.S. tend to be terribly ill-informed about this topic.
Genetics experts at research institutions, professional societies, and even small labs are working hard to address this situation. New recommendations about core concepts that all students should know, the development of genomic literacy assessment tools, free public education workshops, and outreach to local school systems are all ways in which the genomics community aims to help people learn about DNA.
Despite scientists’ best efforts to get people interested in learning about genetics, they often have trouble conveying even the basics in jargon-free language that’s easily understood by everyday people. In truth, this is a fundamental communications problem faced by experts in many highly technical fields. Potential solutions include crafting relatable analogies, using visual tools, and accepting that, for certain audiences, technical precision is less important than teaching a new concept.
If you remember anything about DNA from high school biology, it’s probably the double-helix structure. Education about genetics tends to begin with cells, molecules, and chromosomes. Barbara Biesecker, a veteran genetic counselor who participated on the ASHG panel, said that too often, scientists get bogged down in the nitty-gritty biological details. It may be more important, she suggested, to focus instead on the consequences of genetics — for example, how the deletion of a stretch of DNA can lead to disease.
The good news is that more people are encountering genetics and genomics in their daily lives—from hearing about it on primetime TV shows to conversations with their doctors. If we want to establish basic proficiency among the general public, then focusing on the knowledge that’s most important in day-to-day life is going to be a better approach than trying to make everyone memorize the names of the nucleic acids used in a DNA molecule.
Humans don’t do well with uncertainty, and in genetics, there’s alwaysuncertainty. Test results are often expressed as probabilities. Genetic variants may be interpreted one way now, but with new information in the future, they may need to be re-interpreted. The science is changing fast, and genetics rarely holds all the answers, typically requiring information about lifestyle, environment, and other factors to fill out the picture.
That puts patients and doctors in a tough position. Patients can perceive healthcare providers as ignorant when they deliver uncertain results. Even when physicians offer a clear explanation about why results are uncertain, it can put the burden on patients to have to check back every few years and find out if those uncertain results have been clarified. It’s unusual in medicine to offer a test knowing that results are likely to be unclear, but with genomic medicine, this is the new norm, Biesecker said. We’re going to need a better understanding of genetics and better communications between doctors and patients to adjust to this.
Many ongoing research projects have been designed to try to deal with this, testing various ways to report results, such as the use of graphics to represent probabilities and other complex concepts.
In survey after survey, healthcare providers acknowledge feeling ill-equipped to understand or explain the results of genomic medicine. Most medical school programs offer minimal genetics training.
That’s an unfortunate situation—especially when more people are getting their own genetic information through consumer-oriented services such as 23andMe, and asking their physicians to make sense of it. Continuing medical education is an option to help, but many doctors report feeling resistant to learning about genetics, especially if they don’t believe it will help them deliver better care to their patients.
Many research organizations are trying to make a difference by finding simple ways to bring doctors up to speed on the latest in genomic medicine. Scientists have focused on making genetic test reports clearer and more useful to physicians. Ultimately, the genomic literacy challenge is one we all have to work to overcome. Most people will never need to be experts in DNA, but a basic level of proficiency will be essential for almost everyone in the coming years.
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