Navigenics last week launched a cheaper, stripped-down personal genomics service that doctors can offer their patients as part of annual medical checkups.
The company simultaneously also launched an online portal allowing doctors to access genomic information from patients who become members of the service, called Annual Insight. With the portal and the lower priced genetic testing service, Navigenics is hoping to encourage doctors to integrate genetic risk data into the everyday health management of their patients.
However, ongoing questions concerning the clinical validity and utility of the genetic associations and assessment tools used by Navigenics and other consumer genomics firms may temper physician adoption, according to at least one doctor who runs a personalized medicine practice.
Annual Insight is a $499 service that provides individuals information about their genetic predisposition for 10 common health conditions, including breast, colon, and prostate cancer, celiac disease, Crohn’s disease, type 2 diabetes, glaucoma, heart attack, macular degeneration, and osteoarthritis.
By comparison, Navigenics’ principal Health Compass service, launched in 2007, costs $2,500 and tests people’s genetic predisposition for 23 conditions.
Customers signing up for the one-year Annual Insight program will also receive one hour of free consultation with a genetic counselor provided by Navigenics. Additional counseling is available at extra cost. Patients will have to pay annually to retain their enrollment and receive updates.
“We decided to go with the one-year time-frame because we heard feedback from doctors that they wanted to incorporate this information into their patients’ annual physical checkup,” Navigenics Chief Medical Officer Vance Vanier told Pharmacogenomics Reporter this week.
Describing the online portal, Vanier said physicians will be able to “integrate patients’ genetic information into personalized health plans designed to help diagnose early or prevent a number of health conditions,” the company said in a statement.
The portal would also serve as an access point for their patients’ genomic information, and physicians would be provided educational materials to help them integrate that information into their clinical practice.
Before launching the Annual Insight service and portal, Navigenics piloted the program with MDVIP, a collective of physicians spread across 25 states and Washington, DC, who practice preventative and personalized healthcare [see PGx Reporter 12-10-2008].
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MDVIP doctors “are very enthused and very interested in what this is going to add clinically to their management of the patient,” MDVIP CEO Edward Goldman told Pharmacogenomics Reporter this week.
Last year MDVIP conducted a study using Navigenics’ Annual Insight service to profile 40 patients. After receiving their genetic risk information, the patients were provided medical and genetic counseling. MDVIP then surveyed the doctors and patients on how this information affected them.
Approximately 90 percent of surveyed patients said knowing genetic risk information changed their view of their health; 96 percent said the knowledge led them to seriously contemplate making lifestyle changes; and 74 percent said it changed how they interacted with their physician.
Of the MDVIP physicians surveyed, more than 90 percent said that genetic risk information changed how they handled their patients and spurred them to take a more aggressive medical approach.
However, at least one doctor does not share MDVIP’s enthusiasm about Navigenics’ attempts to engage physicians. “By partnering with MDVIP it allows Navigenics to increase a shroud of mystery and confuse the public even more that these are clinically validated tools,” Steven Murphy, a doctor trained in medical genetics who runs the personalized-medicine practice called Helix Health, told Pharmacogenomics Reporter.
For its part, the American Medical Association issued a statement last year opposing the kind of direct-to-consumer genetic testing offered by firms like Navigenics, 23andMe, and Decode Genetics’ DecodeMe. The group’s policy states that genetic susceptibility testing marketed directly to consumers should be performed under the care of a qualified health-care professional [see PGx Reporter 08-20-2008].
Medically Actionable?
Last June, Navigenics, 23andMe, and Decode were among 13 genetic-testing companies to receive warning letters from the California Department of Public Health. The letters ordered those shops without a state license and the involvement of a state-licensed physician to stop marketing their genetic tests to California residents [see PGx Reporter 06-25-2008].
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The CDPH’s letters followed similar cease-and-desist orders issued by the New York State Department of Health last April to 23 DTC genomics-services and genetic-testing companies.
Since these warnings were issued, Navigenics and 23andMe have been cleared for DTC personal genomics services in California. However, language in the company’s Terms of Service has raised questions among some physicians as to how medically actionable the genetic-risk data are.
On the one hand, Navigenics employs state-licensed physicians and genetic counselors, but maintains in its Terms of Service that this does not constitute a doctor-patient relationship.
“The contents of our Site, including any risk estimates or other reports generated by the Services … are for informational purposes only and are not intended to substitute for professional medical advice, diagnosis, or treatment,” Navigenics states in its Terms of Service.
“Our stance has always been that patients shouldn’t take this information and make medical decisions on their own, that they should consult a doctor,” Navigenics’ Vanier said. “This is complex information that is often challenging for physicians.”
Although Navigenics urges doctor-patient interaction when looking at genetic risk data from its Annual Insight service, the company does not take any responsibility for the accuracy or utility of the information it is providing.
“Navigenics assumes no responsibility for any consequence relating directly or indirectly to any action or inaction you take based on our site, the services, your report, or other content,” the company says on its website. “You must evaluate and bear all risks associated with their use, including any reliance on their accuracy, completeness, or usefulness.”
For its more expensive Health Compass service, Navigenics uses an Affymetrix Gene Chip to test more than 1 million genetic markers plus targeted platforms from “a couple of undisclosed labs,” Vanier said. However, for Annual Insight, the company is just running samples on the targeted genotyping assays.
‘Highly Unethical’
Many doctors and researchers have criticized the consumer genomics field, saying the nascent industry is trying to ramp up faster than the science justifies. Some critics have even called for a ban on DTC marketing of such services and for greater oversight from the US Food and Drug Administration [see PGx Reporter 04-09-2008].
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According to Helix Health’s Murphy, absent proof of validity and utility of the clinical tools and gene associations, consumer genomics services should not be attempting to broadly integrate genetic risk data into medical practice.
“No one in my mind should confuse these tests for what they are not. And what they are not are clinically useful tools. Their terms of service say that but they are being marketed as clinical tools,” said Murphy. “That’s a big problem. … What Navigenics’ marketing team is doing is highly unethical.”
MDVIP’s Goldman has not heard similar concerns from MDVIP physician members. “In our view of the world, this is one point of many points that we do in our comprehensive evaluation that we base clinical judgment on,” he said.
MDVIP doctors perform a two-hour annual assessment on their patients focused on early disease detection. In order to integrate Navigenics’ Annual Insight service into their practices, MDVIP doctors must receive between four and eight hours of face-to-face and web training from Navigenics, according to Goldman.
“In essence, the clinical judgment doesn’t come from a test or a genetic counselor; it comes from the patient’s doctor,” he added. “In our system, the patient and doctor [are] very intimate and the doctors have a lot of data to make clinical decisions. [The Annual Insight service] is just one more thing.”
Get What You Pay For?
The $499 price tag for the Annual Insight program is a sharp drop from the $2,500 Navigenics charges for its more extensive Health Compass service. The lower price is likely an attempt to compete with 23andMe, which last year lowered the cost of its service from $999 to $399 citing technological advancements with the Illumina platform.
However, the $500 fee only gives Navigenics customers access to their genetic risk data for one year. By comparison, for $100 less 23andMe customers permanently become part of an online community and are entitled to free updates on new genetic risk information.
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According to Navigenics’ Vanier, the annual fee is a result of the targeted genotyping platforms the company is using for Annual Insight. From a technical standpoint, since the company is analyzing samples on targeted genotyping assays instead of Affy’s Gene Chip scans, customer samples will have to be run again for any new genetic risk information.
Under the Annual Insight program customers are also entitled to one hour of free genetic counseling. This is more than enough time to explain genetic risk information, according to MDVIP’s Goldman.
In MDVIP’s pilot study, most people needed between 15 and 45 minutes of genetic counseling, and no one requested more than one hour. However, if patients need additional counseling, it is available at an additional cost.
Helix Health’s Murphy, however, pointed out that the length of a genetic-counseling session depends on how clinically meaningful the results are, and how many negative results the patient received.
“If you don’t have lots of clinically meaningful information to relay to the patient, then you don’t need to spend a lot of time. Then, maybe 15 minutes is enough,” he said. “But 15 minutes to discuss the results of nine clinical conditions, and even if two or three of them are negative, then I’d say 30 minutes to 45 minutes of counseling is not nearly enough.
“It all depends on the clinical utility of the information being discussed and how this information affects the patient’s life,” he noted, adding that in his practice, while genetic counselors can easily spend an hour counseling patients on the results from single-disease genetic tests.
Gather the Evidence
It can be argued that it is exactly through these kinds of partnerships with doctors and researchers that Navigenics can garner the clinical utility and validity data it is currently missing. Navigenics has entered into research collaborations with the American College of Preventive Medicine, Duke University Medical Center, Mayo Clinic, MDVIP, and Scripps Translational Science Institute.
In gleaning genetic-risk data on patients through the Annual Insight program, MDVIP hopes to build the largest genetics and lifestyle database. “We hope to gather the data and integrate this [genetic risk] information with our electronic medical records,” Goldman said. “We would like this data to be part of our outcomes measures and we’d like to see how this clinically affects patients … and whether it contributes to prevention.”
However, if this technology is ultimately being used to advance research, then Murphy argues that it is unethical to make customers pay $500 to test the hypothesis that genetic risk information may have a medical impact on their lives.
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“If you’re going to do research, then make it free,” said Murphy, who also sits on the Informed Cohort Oversight Board for the Coriell Personalized Medicine Collaborative.
Unlike commercial consumer-genomics firms, the CPMC genotypes all comers for free when they enroll in a study investigating the clinical utility of genetic-risk data. CPMC aims to enroll as many as 100,000 people [see PGx Reporter 10-01-2008].
This week, the CPMC launched a web portal, which will allow more than 3,360 current study participants to fill out family and medical history questionnaires and access educational materials on genomic medicine. Ultimately, through the portal, CPMC will provide study participants personalized disease risk assessments to be discussed with their doctors for healthcare management .
Separately last week, 23andMe also announced a clinical research partnership with MondoBiotech to study the genetic underpinning of rare diseases. Ultimately the partners hope their research will lead to the development of targeted drugs and diagnostics. Use of 23andMe’s service in clinical trials can also show whether the gene associations and tools used by the company are valid and useful (see related story, this issue).