It’s been 10 years since researchers first sequenced a rough draft of the human genome. Today, companies like 23andMe provide partial genome sequencing directly to consumers for just $99.

The plummeting costs and wider accessibility of DNA sequencing technology are ushering in new prospects for personalized genetic medicine. They are also prompting serious discussions around the profound societal implications of using patients’ genomic data in medical care.

Experts gathered in Boston to examine these issues at the AAAS Annual Meeting. They also discussed engaging with the public to improve understanding of DNA sequencing technologies, a particularly critical strategy as these technologies become more widely available. 

The sequencing work done by 23andMe and research institutions the world over has moved the field of genomics to an exciting moment, when researchers—equipped with a critical mass of genetic data—can finally focus on deciphering what this data means and how it might influence risk for certain diseases.  

Expert panel. Credit: AAAS Staff.

This work is pivotal considering much of the genome remains a mystery. “Almost everything in the human genome is a variant of unknown significance,” said 23andMe founder Brian Naughton. 

Determining which gene variants are clinically significant is no simple task. Labs pursue this process very conservatively. For example, even if a lab discovers a mutation, that mutation must meet certain criteria—including having been found in other patients with a disease and being known to impact protein production—to be deemed clinically significant. According to Mira Irons of Boston Children’s Hospital, “Since we are seeing so much more data now, we will inevitably see things we’ve never seen before, and that will make determining clinical significance even harder.”  

Ensuring that genomic information is useful to physicians and patients presents yet another challenge. Doctors must be able to interpret genomic datasets in a way that is meaningful for their patients. 

“We are finally at the point where genetics and genomics will impact medical care,” explained Irons, “but we haven’t given healthcare providers the information they need to use results effectively.” She has facilitated this process at Boston Children’s Hospital by bringing trained geneticists to work alongside healthcare providers to help them understand sequencing results. 

The panelists also touched on strategies for sharing the results of genome sequencing with people who have little background to understand them. The fact that genetic influences are not deterministic is important to get across, for example. “We also need to convey the difference between uncertainty and risk,” said Ting Wu, a professor in Harvard Medical School’s Department of Genetics. “Knowledge of risk gives the option for action.” 

In addition to explaining information accurately, doctors will need to answer some thorny questions as they care for their patients, such as how much information to give these individuals about their genomic sequencing results, said Jonathan Gitlin, Science Policy Analyst at the National Institutes of Health. 

Permission from patients is another issue. “Acquiring informed consent from a patient being tested for a single mutation is relatively straightforward, but if you are going to sequence that person’s entire genome, how do you get accurate informed consent to account for the ample findings that could result?” Gitlin added.

Sheila Jansanoff, Professor of Science and Technology Studies at the Harvard Kennedy School, discussed even broader implications of next-generation sequencing technology. For example, because people are able to order genetic testing results directly, they can be more active in understanding their own healthcare and less dependent on physicians. 

Despite the complexity that remains to be addressed, what is before us is not a DNA dilemma, but an opportunity, according to Wu. “Among my colleagues is an understanding that we have an obligation to make sure we share what we learn,” she said. “Furthermore, science writers are getting it right, explaining genetics in words anyone can understand—and the public wants it; they are very vocal. Overall, we’re doing a better job conveying information than we have in past. I am optimistic.”