Direct-to-consumer genome sequencing could be key to the future of healthcare

If you’ve ever swabbed your dog’s cheek and submitted the DNA sample for testing, you probably learned about your pup’s breed and genetic risks for health conditions. Similar, yet more in-depth, testing—known as whole exome sequencing (WES)—exists for humans, but it’s far less common than its canine (or even human ancestry-focused) counterparts.

A growing industry of genetic testing startups, like Florida-based Panacea, is looking to change that. And backers of WES argue that the relatively new technology—which did not exist two decades ago—could be key to the future of medicine.

“More than 80% of people do not get any kind of genetic testing, let alone the thorough, core, holy-grail genetic testing, which is whole exome or whole genome,” Panacea founder and CEO Dahlia Attia-King told Healthcare Brew. “There is a massive, massive underutilization of the core test that is necessary for the future of healthcare to even begin.”

Attia-King attributed that underutilization to three main causes: a lack of knowledge among physicians on how to implement genetics into patient care; the price for such testing, which can cost thousands of dollars and may not be covered by insurers; and a lack of public awareness about genome sequencing that goes beyond more popular direct-to-consumer DNA testing offered by companies like 23andMe.

“It’s literally like walking into the grocery store with a very specific list of items that you’re looking for, as opposed to walking in the grocery store and scanning every aisle and figuring out what exists,” she said. “Most people will have that false sense of security because they’ve done a 23andMe or some other type of direct-to-consumer test without understanding the fact that so much genetic information is likely missed because those tests are not actually sequencing your DNA.”

Panacea, which began operating in Florida in December 2022 and aims to expand nationwide in 2023, partners with Clinical Laboratory Improvement Amendments (CLIA)-certified labs, physicians, and genetic counselors to offer whole exome sequencing—which goes further than most clinical genetic tests that people get to see if they carry genes for certain medical conditions—for $1,000 or less.

The price includes a buccal swab kit (and shipping fees), lab processing, physician oversight, and one genetic counseling session when the results are ready. (Pretest counseling can be added at an additional cost.) Still, Attia-King acknowledged that the price tag is not accessible to everyone.

Panacea is not the only company to enter the genetic testing market in recent years.

California-based Nebula Genomics and Sequencing.com, among others, also offer direct-to-consumer whole genome sequencing kits, for which costs range from hundreds to thousands of dollars based on the type of testing.

However, Attia-King said she was “hell-bent on not being another direct-to-consumer genetic testing company.” Panacea, therefore, offers patients a “complete experience” that includes a clinical test—which by law requires physician oversight—and counseling to help users understand their results.

“We don’t just throw you to the wolves and say, ‘Thanks for giving us $1,000 bucks,’” she said. “You get a free one-hour session with our partner genetic counselors, and they essentially pick apart your entire report and they tell you what your next steps are.”

Panacea’s results focus on “actionable” genes—or those that patients can do something about to prevent certain medical conditions, Attia-King said. The company’s lab partners don’t report on “not actionable” genes—like those signaling conditions like Huntington’s disease, for which there is no cure and few treatment options for symptoms—due to ethical reasons.

However, “not actionable” results are revealed when the testing is used to diagnose a problem, Attia-King said. They are also available in the raw data for users who want to know what they are.

“There are rules and laws in place that would essentially force the laboratory or the genetic counselor to reveal that information. There is a level of ethics there […] but it’s not consistent across the board; it is state-dependent,” she said.

Beyond state rules, the FDA, Centers for Medicare and Medicaid Services, and Federal Trade Commission oversee genetic tests and laboratories. Still, “most genetic tests today are not regulated, meaning that they go to market without any independent analysis to verify the claims of the seller,” according to the National Human Genome Research Institute.

The rise in direct-to-consumer genetic testing has raised questions—and sparked headlines—about the accuracy of those tests and industry oversight.

Hinco Gierman, VP of precision oncology for Elephas Biosciences Corporation and a Panacea advisor, said that while there’s “no perfect test,” including DNA sequencing, “the odds of you getting wrong information are pretty low” given the recent technology advancements.

Panacea is also hoping to soon add a mental health counseling component to its offerings to help patients work through their results and next steps, Attia-King said. The company is in talks with various counselors.

“We are very much keenly aware of the necessity and importance of this piece,” she said.