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Navigenics Debuts Gene Dx Service, Allies With Mayo to Study How Patients Use Data

Navigenics this week officially launched its genetic-testing service, and in hopes of shielding itself against recent criticism of the direct-to-consumer model, has disclosed an alliance with the Mayo Clinic to study how patients understand and use genetic risk information.
Additionally, Navigenics said it would work with the Personalized Medicine Coalition to develop industry standards for consumer genomic-testing services. This move, in turn, strategically positions Navigenics as a proponent of “responsible” DTC marketing.
Toward the second half of last year, at least three consumer genomics services were launched, including 23andMe, DeCode Genetics’ DeCodeMe service, and Knome, all attempting to create a new business model that sells individuals information about their genes. These companies say their services could help customers better predict their predisposition to diseases. 
However, there are many in academia, industry, and government who believe that, given the evolving regulatory infrastructure and the current state of the science for genetic tests, marketing genotyping services straight to the general public is irresponsible and possibly dangerous.
"In this emerging field it is absolutely critical that the entire industry remain rooted in high-quality science and research; this is exactly what we do and what our customers, collaborators, and advisors expect from Navigenics," Navigenics CEO Mari Baker said in a statement. “We believe this research collaboration with ... Mayo Clinic, will help the entire industry evolve responsibly, provide the necessary tools to educate clinicians, and ultimately improve people's lives."
The study, entitled “A Proof of Principle Trial of Communication to Patients Receiving Predictive Genetic Risk Assessment,” will examine how patients and doctors understand and use information provided by a Navigenics’ genetic risk assessment service. The study, slated to begin this month and end in September 2009, is jointly funded by Navigenics and the Mayo Clinic.
With regard to industry standards for DTC genetic-testing services, Navigenics said it plans to solicit input form multiple stakeholders on subjects related to DTC genomic testing at an undisclosed conference later this year.
The Service
Navigenics' SNP-genotyping service, which costs $2,500, will compete with DeCodeMe’s and 23andMe's $1,000 services. Meanwhile, Knome's whole-genome sequencing service has a $350,000 price tag.
Some of the disease risk factors for which Navigenics will be testing include Alzheimer's disease, heart attack, multiple sclerosis, Crohn's disease, colon cancer, prostate cancer, and breast cancer.

The “Holy Grail” for Navigenics would be to conduct a study to see if genetic risk information makes an impact on a population-wide basis.

According to Navigenics co-founder Dietrich Stephan, under the Navigenics Health Compass program — which the company claims is the only personal genetic risk-assessment service that provides on-staff certified genetic counselors — patients will work with their physician to order a screen and fill in their healthcare information on Navigenics' website. Once the test kit arrives, individuals would provide Navigenics with a saliva sample from which DNA is extracted and tested using Affymetrix arrays.
The company will evaluate an individual’s genetic profile based on information in the scientific literature. “The service calculates genetic predisposition based on genome-wide association studies that combine a variety of epidemiological variables,” the company said in a statement. “Navigenics scours the more than 4,000 published studies correlating genes to medical conditions and other common human traits to include only those which present high-quality and reliable results.”
Navigenics will make available results from the genetic tests online within two weeks on an encrypted, password-protected site, and update customers’ profiles as new information about the conditions they were tested for becomes available.
The Detractors
Although some support Navigenics’ claim to want to better understand the role of genetic information in healthcare and society through its collaborative study with Mayo, others remain concerned about directly marketing genetic tests to consumers. 
In an article published in Science last week, researchers from Johns Hopkins University's Genetics and Public Policy Center surveyed companies offering DTC CYP450 testing to guide treatment with SSRI antidepressants, even though a government working group recently discouraged the use of such tests due to a lack of evidence. In their survey, the researchers found that as many as 15 companies market CYP450 tests to consumers and identified four firms that make either explicit or implicit scientific claims about the value of CYP450 testing in making dosing or prescribing decisions for SSRIs. (see article, this issue).
Chief among the concerns about such DTC genetic testing services is that genetic information, provided directly to patients who may not fully understand it, may confound the doctor/patient relationship.
Although Navigenics' Stephan said the company does not plan to “gratuitously advertise” its services, Navigenics does plan to work with physicians “to add this to their diagnostic menu.
“That's the real goal,” Stephan said.
Another concern with such services is how the genetic information might be used by insurers and employers — particularly since the Genetic Information Nondiscrimination Act, which is designed to prohibit abuses of such data, has yet to be passed.
Furthermore, some believe that companies might sell the genetic data to drug makers that need such data to conduct genetically targeted clinical studies.
As reported in Pharmacogenomics Reporter sister publication GenomeWeb Daily News, the fact that 23andMe had received undisclosed funds from Genentech led some to speculate that the genetic information its service yields could end up being used in research and development efforts.
During a webcast last year, 23andMe co-founder Linda Avey admitted as much: “We do plan to use the data that we’re collecting on our customers to improve our services ... [and] be involved with research and with the outside research community.”
For its part, Navigenics has not discussed whether it plans to use its customers' genetic information in clinical studies with drug makers.
Another challenge to DTC gene test service providers is proving that their services are clinically useful and that public health is actually improved by having this data. Indeed, an ongoing study by researchers at Kings College in the UK suggests that genetic-risk information alone does not inspire preventative action by individuals [see PGx Reporter 03-26-2008]. 
According to Navigenics’ Stephan, one of the main focuses at the company for the past two years has been looking at how patients use genetic-risk information. Before launching its service, Navigenics conducted several hundred screens and followed up with surveys to find that 46 percent of genotyped individuals have “done something” after three months.
“Things they have done have varied from going to their physician to being diagnosed with that particular disease, to behavior and lifestyle modifications,” Stephan said. “We don't know if they stick with it, but as an upfront snapshot that's a lot better than when we go to the doctor and the doctor tells us, 'You gotta lose 10 pounds,' and we walk out and we live happily ever after.”
According to Stephan, the “Holy Grail” for Navigenics would be to conduct a study to see if genetic risk information makes an impact on a population-wide basis. In this regard, Navigenics is in the midst of planning a population-wide prospective study called iPREVENT that aims to study millions of customers over decades, to see if they end up getting diagnosed with the disease that their genotypes had predicted them to get, and if they remain healthy after having taken preventative action, such as making lifestyle changes.
The research team for this study has been built, and the trial is slated to start soon, Stephan added.

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