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As Genetic Testing Grows, Will Direct-to-Consumer Companies Fly or Fly by Night?


As pharmacogenomic testing slowly enters clinical practice, direct-to-consumer marketing and selling may offer molecular diagnostics companies a clever way to help their products gain traction in the market.

One of the most familiar obstacles to the widespread acceptance of molecular diagnostics is physician education, a barrier that companies try to overcome either by direct education or physician-targeted advertising.

Yet although the molecular diagnostics industry has had mixed results through these kinds of approaches, some in the industry believe the model can work on patients.

“The government has [already] spent $100 million trying to educate physicians …. in the use of [pharmacogenomics-based testing] … and it’s had no effect whatsoever,” Fred Ledley, president and founder of MyGenome, told Pharmacogenomics Reporter. He was citing figures from the US National Institutes of Health Office of Biotechnology Activities Secretary’s Advisory Committee on Genetics, Health, and Society. “The other way [for companies to market their products], which is my favorite, is [that] patients will demand it.” MyGenome hopes to provide counseling materials for patients receiving results from DTC genetic testing companies. (See full interview in this issue, "Straight talk on direct-to-consumer testing with Mygenome’s Fred Ledley.")

Estimating the size of the market for genetic tests sold and marketed on a DTC basis is a very difficult thing to do, in part because it is quite small and somewhat neglected by major players. A May 2003 study by Kalorama Information, Genetic Testing: Markets and Users in Medical, Forensic, Paternity and Food Safety Applications, found four companies offering DTC tests in eleven disease areas, while an informal investigation for this article found four more.

Ledley named three main factors hindering the ability of molecular diagnostics companies such as Roche Diagnostics and Abbott to sell their tools directly to the people who prescribe them and to patients themselves. First, a limited number of specialist counselors and a lack of standard counseling methods creates a bottleneck for many tests requiring any interpretation. Second, physicians are reluctant to recommend testing due to their own lack of education, which often requires constant effort to stay current. Third, payors have no incentive to pay for preventative genetic tests that will benefit patients 10 or more years later, because most patients stay with their payors an average of three years.

Indeed, the US genetic-testing market brought in $200 million in 2003, but “we know that’s reaching only 5 percent of the people” that need it, said Ledley. “There really is no direct-to-consumer [advertising] right now.”

A few companies use DTC marketing and sales, but the practice has yet to really catch on. For example, some smaller shops have found a niche in particular disease areas, have begun to market their product to patients, and have expanded a bit into familiar genetic testing areas, such as cystic fibrosis. Other diagnostic companies offer less-rigorous tests that tend to make professional societies, researchers, and regulators nervous — offering tests purporting to help people decide on a correct diet, alcohol intake, or skin cream.

Quality Barrier

“We would not be very enthusiastic about even thinking about DTC in a genetic test that was in a clinical investigation stage where our knowledge base wasn’t terribly stable about the information being provided, and what [the test] really meant,” said Mike Watson, director of the American College of Medical Genetics. “A lot of [concern] is driven by some of the Internet sites out there that are stretching the truth in a pretty serious way,” he said.

Indeed, the US National Human Genome Research Institute held a meeting last March attended by members of the ACMG, the US Federal Trade Commission, the US Centers for Disease Control and Prevention, and other groups to discuss potential issues that might arise if there is an increase in DTC genetic diagnostics.

“Our position is that this area needs exploration, and the meeting was a symptom of that,” NHGRI Deputy Director Alan Guttmacher told Pharmacogenomics Reporter. “What we would strive to do is have a system in place that: a) empowers consumers; b) recognizes the rights of organizations to market things appropriately; [and c)] also makes sure the consumer is fully informed in the decision making,” he said.

The meeting did not result in a policy position, he said.

An early test of DTC marketing of genetic testing was carried out by Myriad Genetics between September 2003 and February 2004 in Denver and Atlanta. It had limited success. The campaign, which was paired with genetic counseling, advertised Myriad’s BRCA1 and BRCA2 breast-cancer predisposition diagnostic. It “worked, but what we found was the infrastructure just wasn’t in place,” said Bill Hockett, spokesperson for the company. “It loaded up the pipeline of the distribution system for counseling and so forth, and we couldn’t get any more patients through the system.”

Under Myriad’s system, an average of eight hours of genetic counseling was provided per test, said Hockett. The company is currently working on streamlining the process, he added. A 2003 Annual Education Conference Abstracts study found a 300-percent increase in calls from women interested in the test, but a decrease of 30 percent in the referral of high-risk women.

The BRCA diagnostic Myriad used in its Denver and Atlanta experiment “is probably slightly different from what’s going to become more common in the future,” said Hockett. “We’re talking about predictive risk assessment, essentially, but determining that a very high risk is in fact existing, those kinds of chips [like AmpliChip] are going to say that the best drug for ‘this’ kind of condition is ‘this.’” Myriad is working on a panel incorporating genes that all relate to one health factor, but does not yet know how it will market them, said Hockett. “I think that these panels of tests — pulling together some significant panel for people — will become more common. I expect more people to be using these in five or 10 years.”

“It really takes a lot of physician education [before DTC advertising could work], and it would really be a mistake to dive right into some sort of DTC marketing with [our] chip [or AmpliChip] or some new process, because physicians will not know what to do with the patients coming in and asking for it,” said Hockett.

“I actually get calls all the time from people who are curious about our DNA testing, even though it is a very minority portion of what our business model is set out to do,” said Holt Vaugn, president of HealthcheckUSA. The company began offering a test for hemochromatosis directly to consumers when a patient-advocacy group contacted it. In partnership with Kimball Genetics, which performs the lab work, Healthcheck sells the hemochromatosis test to customers who call them “literally every day,” said Vaugn.

As part of its strategy, the company provides physician authorization for customers, which is required before the tests are actually performed, Vaugn said. Kimball delivers the analysis to customers and their physician, then provides genetic counseling by telephone, he added.

In addition to hemochromatosis, Healthcheck offers tests for Factor V Leiden, prothrombin, and celiac disease. Kimball offers cystic fibrosis, fragile-X, and other tests on a DTC basis. “As far as the other [non-hemochromatosis] DNA testing, we really don’t get many orders for it, and I attribute that to [patients] not knowing it’s possible to do,” Vaugn said. “The education that is out there on the Internet is providing people a wealth of information about what tests are good for what they want,” he said. DNA testing “probably isn’t going to get that much interest for a while — it’s a long learning curve, we’ve learned, with consumers.”

Kimball also does lab work for DTC company DNA Direct, according to Kimball’s owner, Annette Taylor. She said she has seen the number of DTC companies grow in the last several years, but she was unable to provide a market estimate. “I know that there’s the other side of this — that a lot of physicians don’t like direct-to-patient, because they’re not in control of ordering the test,” she said. “What we’re doing is applying exactly what they’re worried the patient isn’t getting. We’re giving them an enormous amount of education about the meaning of the test, et cetera,” Taylor added.

— CW


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