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Navigenics Developing Standards, Funding Research on Genetic Tests

NEW YORK (GenomeWeb News) – Navigenics, which officially launched its genetic testing service today, is developing a set of industry standards for consumer genetic testing and is set to collaborate on a clinical trial assessing how individuals understand and use genetic information, the company said today.
The announcements came at the same time that the company officially launched its genotyping service, Navigenics Health Compass, which provides individuals with information about their genetic risk associated with 18 common conditions such as colon cancer, heart disease, and glaucoma. Reports about Navigenics’ genetic testing service first surfaced last September, when Affymetrix officials disclosed they were collaborating with Navigenics to develop the consumer genomics offering.  
Navigenics’ service will compete with similar SNP-genotyping offerings from DeCode Genetics and 23andMe, as well as a whole-genome sequencing service offered by Knome. While Navigenics did not disclose pricing for the service in its announcement today, it previously said that it would cost around $2,500. By comparison, the DeCodeMe and 23andMe offerings are in the neighborhood of $1,000, while Knome's sequencing service starts at around $350,000.
For the test, which will be offered directly to consumers, individuals provide Navigenics with a saliva sample from which DNA is extracted and tested using Affymetrix arrays. The company will then evaluate an individual’s genetic profile based on information in the scientific literature. The information will be made available online on an encrypted, password-protected site and individuals’ profiles will reportedly be updated as new information about the conditions they were tested for becomes available.
In the past few months, many have voiced concerns over individual privacy, the clinical relevance of various genetic tests, appropriate access to genetic counseling, and physician and patient education about these tests. In addition, the regulatory requirements surrounding these services remain unclear.  
Navigenics’ standards are intended to address such apprehension — and to provide new data about genetic testing outcomes. For instance, the company and the Mayo Clinic are funding a prospective clinical trial, scheduled to begin this month and continue through September 2009, which will address physician and patient understanding of genetic tests and their effects on preventative health decision making.
The company is also presenting a draft of standards to be applied to the genetic tests. Currently, the ten proposed standards include such criteria as validity, accuracy, and clinical relevance. They also address security and privacy issues, emphasizing an individual’s right to control who has access to their genetic information and the need to follow HIPAA regulations.
Navigenics said today that it will present and solicit information about the standards at a meeting later this year organized in conjunction with the Personalized Medicine Coalition.
“The science is advancing at a rapid pace, and that’s very exciting not just for researchers, but for all of us who can ultimately benefit from the application of these findings,” Dietrich Stephan, co-founder and chief science officer of Navigenics, said in a statement. “But with that advancement comes a serious responsibility to ensure the integrity of this critical step towards personalized health care. We know that if we don’t do it right, we could set things back quite a bit — which is why it’s important for us and others to be clear about what we will be accountable for.”
The Redwood Shores, Calif.-based company is also touting itself as the only service currently providing access to genetic counseling. It is providing an on-staff certified genetic counselor to help interpret the genetic information and online information for consumers and physicians.
The firm also is highlighting the notion of using genetic information as a tool for preventative medicine. As such, it said, it is focusing on conditions that are either preventable or which benefit from early detection and treatment. In addition, the company is providing information online for physicians and sponsoring a continuing medical education program through Medscape.
23andMe has also taken steps to address some of the regulatory uncertainty surrounding the consumer genomics market. Last week, the company's founders posted a notice informing customers that it had recently switched its service to a CLIA-certified lab because "the regulatory requirements we face are both complicated and uncertain."

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