Companies face challenges, from courting customers to charming regulators.
The capabilities of next-generation genetic sequencing are growing—and the costs shrinking—at rates that appear unprecedented in healthcare. The first whole genome sequencing was completed in 2003 with a $2 billion price tag. The same process is expected to run just shy of $100 in less than 5 years.
With costs so low and the information’s potential so high, a direct-to-consumer genomic gold rush could be looming. It might already be taking shape, according to some experts. “There’s an explosion of companies that are raising real money around that,” said Eric Schadt, PhD, CEO of genetics company Sema4. “It’s going to be a real struggle for regulatory bodies, hospitals, healthcare professionals, and consumers. It’s an amazing point of time we’re in.”
23andMe Sits Alone at the Top
While the direct-to-consumer market may be on the cusp of a boom, the current playing field has 1 undisputed champion: 23andMe.
In September 2017, it received a cash injection of $250 million, despite never turning a profit in more than a decade. But the road to that landmark investment was fraught. At its launch in 2006, 23andMe intended to provide everything from ancestry information to genetic predispositions and disease risk scores. Its offerings have since expanded and contracted at the whims of regulators. The company has derived value from its staying power in a young and tenuous field, the volume of worthy data it has accumulated, and the tenacity of founder and CEO Anne Wojcicki.
In 2013, 23andMe received a warning from the FDA, which halted personal genome work, allowing little more than ancestry tests. Two years later, the door opened again when the company began marketing a cheaper, simplified product focusing on recessive disorders.
As the organization waited, it primed previously acquired data for drug development. The company then launched a therapeutics arm headed by former Genentech executive Richard Scheller.
Earlier this year, the FDA changed direction and crowned 23andMe the first and only company able to sell genetic health risk tests directly to consumers. The company was able to return to marketing tests for a customer’s risk of developing 10 conditions, including celiac disease, Parkinson’s disease, late-onset Alzheimer’s disease, and hereditary thrombophilia. That monopoly may not last: In November, the FDA announced it would look to streamline the review process for such products.
Out of hundreds of millions of products available on Amazon, 23andMe’s combined health and ancestry test was among the 5 best-selling on Black Friday 2017.
Old Guard, New Hats, & Scams
In the past, LabCorp and Quest Diagnostics dominated the genetic testing field. But they performed only exams ordered by a physician, who also initiated the process. Since then, a flock of newcomers has focused on the direct-to-consumer business. Some have withered, while others have achieved varying degrees of prowess and credibility.
Today, a new paradigm is emerging. The FDA had previously put its foot down on the consumer- first model, demanding test approvals, said Andrew Faucett, MS, a licensed genetic counselor in Geisinger Health System. The design in which customers seek out physician authorization for tests has become dominant, he noted.
An early scientific adviser for DNA Direct, Faucett has long stood at the industry’s forefront. The company required consultation and then helped customers arrange clinical testing through a provider. After several acquisitions, the operation shut down. Leadership, he said, did not see a future in it. Schadt’s Sema4, which was born in Mount Sinai Health System, has since adopted the model. So has Invitae, which searches for cancer and heart conditions.
Others don’t require consumers to order tests through doctors but claim to consult physicians to interpret results. EverlyWell does this for food sensitivities, testosterone, and estrogen levels, among other things. New York, New Jersey, Maryland, and Rhode Island, however, bar such testing.
Rather than lifestyle advice, some outfits use genomics to deliver unscientific assumptions about playful topics. Will the consumer become a good soccer player or enjoy certain flavors? Orig3n’s “Superhero” tests, for example, use 6 genes to “tap into your hidden superpower.” Still, the company ran into regulatory trouble when it tried to distribute the tests for free at a football game this fall.
More concerning to experts interviewed by Healthcare Analytics News™ are bogus and predatory testing companies, such as those that pair testing with a sales pitch. In 2014, the Federal Trade Commission brought suit against GeneLink, which allegedly sold “personally customized” skin-care products to customers based on DNA swabs. When asked if the industry could see a rise in predatory genetic testing firms, one expert replied, “No question.”
There’s also the growing list of overseas options that provide services forbidden in the United States. “If we make it real tight here, it’s going to happen in other places,” an expert said.
“No direct-to-consumer testing should be out there if it doesn’t have a good scientific basis,” another said, regardless of its intentions. Still, such companies exist, and more are expected to pop up.
Just a few weeks after announcing its investment, 23andMe published results of an in-house survey, showing a wide gap between the public’s desire for genetic information and its knowledge of the space. Roughly 75% of respondents signaled an interest in testing, but the same proportion didn’t know why the brand’s name included “23,” a clear nod to the number of pairs of chromosomes in a human cell.
For healthcare, the implications of FDA-approved direct-to-consumer genomic testing are manifold. The growth of genetic knowledge and increases in public demand have already created a strain on traditional laboratories, igniting months-long backups. Hospital systems have begun to align with genomics start-ups to give patients access to this data under the guidance of their doctors.
The democratization of genomics, however, could become a complication for primary care physicians. Not enough know how to handle the information, experts said. They agreed on the need for better education, both for the public and physicians, regarding the meaning and limits of these tests.
More regulations should also come down the pike, they said. Patients have the right to their genetic information, they agreed, but the FDA’s approach to that access should find some middle ground. “I have a family member that is very much a hypochondriac, and I would be scared to death of them getting genetic testing,” Nephi Walton, a neurologist and geneticist at Geisinger, said.
And some conditions are too complex for genetics to unravel. Schadt said science, for instance, would be naïve to claim it can make determinations about diabetes and obesity from DNA alone.
Such gaps can leave patients with misconceptions. “‘Well, I’m genetically screwed. This is the reason I’m fat, and there’s nothing I can do about it,’” Walton said, predicting the thoughts of some patients. “I believe in a person’s right to get information about their own DNA, but I think what we have to be careful about is how it’s delivered to them.”
Context is important. A patient can be told they are twice as likely as another person to get a disease, but if the number is a leap from a 1 in 1000 chance to a 2 in 1000 chance, that “doubled risk” might seem as if it means more than it does. Without guidance and a true understanding of the risks before them, patients are liable to become anxious or make unnecessary lifestyle changes, experts said. The trend might also frustrate doctors.
“What physicians want are tools that are going to make their job easier, that will decrease their workflow, and increase their patient volume,” Faucett said. “To have a technology that’s now sapping their time, because they have to answer questions about data they don’t fully understand, that’s very frustrating.”