Boulder – When genetics experts gathered for an annual symposium in Aspen this summer, their talks focused on the potential for genetic tests to be sold directly to customers.
The group, made up of medical doctors and industry experts, agreed such sales were the wave of the future.
Now – barely three months later – that future has arrived in the form of multicolored boxes stacked on a corner table at the Pharmaca Integrative Pharmacy in north Boulder. Pharmaca recently became one of four retailers to begin testing over-the-counter sales of genetic tests.
The tests, called Cellf Genetic Assessments, are produced by another Boulder company, Sciona Inc. The tests allow customers to collect their own DNA with a swab and mail it to a laboratory that tests the sample and returns detailed health and diet recommendations based on genetic analysis.
“This is the future of self-care,” said Don Summerfield, vice president of integrative medicine for Pharmaca, a company that combines traditional prescriptions in a drugstore concept with homeopathic and natural medicines. “It provides a blueprint of what is specific to you.”
While Pharmaca and Sciona officials pitch the test as an opportunity for customers to tailor their diet and exercise regimes to their specific health risks, some experts are skeptical. They caution that the science may not be far enough along to support retail sales, and customers might not be equipped to deal with the information without a doctor’s guidance.
“The technology to do this is very straightforward, and it’s done in many labs around the world,” said Richard Spritz, a professor and director of the Human Medical Genetics Program at the University of Colorado Health Sciences Center. “But one question is whether someone should submit to it without going through a physician.”
The development of gene-specific testing and products has taken off since the first draft of the human genome project was completed in 2000. The project, completed in 2003, mapped the specific DNA sequence that makes up the human genome. Since then, new companies have popped up offering everything from DNA-specific face cream to at-home paternity tests. One company, DNA Print Genomics of Sarasota, Fla., offers a test to determine genetic ancestry.
Sciona has sold genetic assessments directly to consumers over the Internet for two years. Founded in 2000, the company relocated from southern England to Boulder earlier this year. The privately held company has secured $15 million in venture funding from investors including Prelude Trust, Burrill & Co., Bioventures Inc., Genaissance Pharmaceuticals Inc., DSM Venturing and BASF Venture Capital.
Sciona isn’t the only company offering genetically based nutrition analysis. Competitors include One Person Health Sciences Inc. of Vancouver, British Columbia, and Greensboro, N.C.-based Market America Inc., which both sell genetic test kits over the Internet. Additionally, some health-care clinics offer similar tests.
Sciona, however, says it is the first company to sell genetic tests through retailers. Over the past several weeks, it has struck deals with Pharmaca, Ukrops grocery stores in Virginia, PrairieStone Pharmacy and EQ Life, both in Minnesota, to sell the Cellf assessments.
Tests for susceptibility
Pharmaca, which has stores in California, Colorado, New Mexico, Washington and Oregon, began offering the tests last month. Customers can purchase five different tests for $99.99 each. The five available tests are for bone health, heart health, insulin resistance, inflammation and antioxidant/detoxification.
Each test includes two cotton swabs that customers rub on the inside of their cheeks and send to a lab in New Haven, Conn. The lab tests for specific gene sequences – known as single nucleotide polymorphisms – associated with various risk factors. They do not diagnose the presence of a specific condition – only genetic factors that might make someone more susceptible to certain conditions, said Sciona chief executive Jim Bruce.
Test-takers also fill out a questionnaire about their exercise, eating and supplement-taking habits. Buyers of the heart-health test, for example, are asked how many times a month they eat beef, pork, seafood and various grains as well as how often they take vitamins B12, C, A and E.
The combined data is used to create specific health recommendations for the customer. The 35-page reports are mailed within three to four weeks. They include general information on the conditions that were tested for and specific recommendations.
Summerfield of Pharmaca received a report indicating that his body was likely not processing certain types of B vitamins. The report suggested that he increase his dosages of certain B vitamins to maintain his heart health, he said.
“It helps customers understand what they could be taking,” said Pharmaca chief executive Barry Perzow. “There may be customers who are taking calcium who are just wasting money because they are getting enough calcium but really should be taking more zinc or magnesium.”
Nonetheless, medical experts maintain that human genetic research isn’t advanced enough to support direct-to-consumer sales.
“I don’t think that science has progressed to the point that we know for sure which of these (genetic) variations that they’re testing for are actually important for disease,” said Spritz of the CU Health Sciences Center.
“We don’t know in what combinations they may be important or what other combinations may be as important or more important.”
Stephen Barrett, operator of a website called Quackwatch.com and vice president of the National Council Against Health Fraud, expressed similar concerns.
“The question is whether getting tested has any immediate practical value, and as far as I know, it doesn’t,” he said. “In order to determine if it’s worth having done, there ought to be some test showing that.”
Bruce maintains that the company’s tests are based only on documented genetic research.
“Every single genetic variation we include in our test has been well-validated by the scientific community,” Bruce said. “When people understand that we are taking the information that is in the public domain and only offering intervention strategies that are known to help, they would say, ‘Heck, yes, this is a good idea.”‘
Some critics have faulted the companies for simply recommending common-sense diet and vitamin regimens. Bruce maintains that the recommendations are tailored to individuals and superior to simply taking the latest supplement or diet advice recommended by a neighbor or magazine. He said customers might be more likely to follow tips if they knew they were tailored to their conditions.
Sluggish sales expected
Critics also question the wisdom of allowing customers to take the tests and comb through the results without medical advice. The company, however, recommends that customers discuss findings with their doctors, pharmacists or nutritionists. Additionally, the company only tests for genetic risks that can be improved through diet and exercise, so customers won’t be faced with news that they’re facing irreversible illnesses, Bruce said.
Cellf Assessments aren’t flying off the shelves at Pharmaca stores. The company is selling an average of seven to 10 tests weekly, with the heart health test the most popular, followed by bone health. Perzow attributes slow sales to the price and the newness of the product.
“We expected there to be slow growth,” Perzow said. “It takes time for people to understand. We know we need to be patient. This is very new and it will take a while for people to get comfortable with it.”
Sciona is advertising tests on local radio, and Sciona and Pharmaca are pitching the tests through print ads. Because Pharmaca has been selling the tests for a few months and it takes three to four weeks to get the results, employees haven’t had much opportunity to get customer feedback on the reports, company officials said. While Spritz had reservations about the Cellf Assessment, he believes it won’t be long before such tests are more widely used. “There is no question that it is going to become more common,” he said. “As we identify the genetic risk factors for many common diseases, it may well be the best approach to modifying the risks.”
Staff writer Kristi Arellano can be reached at 303-820-1902 or karellano@denverpost.com.
