We predict you will be very, very diseased

Despite criticisms from the scientific-medical community, health departments, federal regulatory and consumer protection groups; companies funded with tens of millions of dollars from private backers are going forward with plans to create the nation’s largest commercial databank of genetic material and lifestyle and demographic information of employees. To get around the regulatory censures over scientifically un-validated genetic tests being marketed directly to consumers, this consortium of companies has just announced a “first-of-its-kind research study” to see if telling people they’re at genetic risk for a disease will motivate them to change their behaviors to healthy living, such as seek regular medical screenings, eat salads and low-fat foods, lose weight and stop smoking.

This study is supported by Navigenics, Inc., which sells gene tests directly to the public, claiming that for $2,500 apiece it can tell people their risk of developing more than 20 diseases. Navigenics, which has received more than $25 million in start-up funds from several backers, according to Associated Press, said this study hopes to show that personal gene tests can motivate 'healthy' lifestyle choices and become a vital part of the preventive healthcare movement. If the results do not support that premise, the entire genetic testing industry will suffer, along with Navigenics, said Vance Vanier, Navigenics chief medical officer and a team member of Navigenics’ investor, Mohr Davidow Ventures, a digitalized personalized medicine investment company.

Yesterday, Navigenics announced it had signed up Scripps Translational Science Institute in La Jolla, California, to enroll as many as 10,000 employees of Scripps Health system at a cost of $20 million. Eric J. Topol, director of STSI will, in turn, lead the study. Scripps Health is a large San Diego healthcare network of clinics, doctor offices, five hospitals and home health care providers. [The term transitional science described here.]

Employee participants will pay $150-$500, depending on their Scripps employee status and when they enroll, and will provide information on their lifestyles and health history. Payment ensures that participants think the genetic information and the study's goals have value, said Navigenics chief medical officer. Each employee must store their personal health record and health risk assessment on Microsoft’s HealthVault, a web-based personal health information software which stores and monitors personal health information, pulls together medical records, and enables the information to be shared with others. Microsoft Corporation is one of the other study’s sponsors. Affymetrix Inc., which makes the gene-detection equipment used by Navigenics, is the study’s other sponsor.

According to the Scripps press release:

Lifestyle changes will be tracked via participants’ self-reported health assessment questionnaires, including a baseline assessment and subsequent self-reported assessments at three- and 12-month intervals after receiving gene scan results. Researchers will also ask participants to conduct periodic health surveys over the next 20 years to assess their behaviors longitudinally. A complete database of genomic and clinical information will be assembled at the Scripps Genomic Medicine program.

“We stand upon the threshold of a fundamental paradigm shift from reactive to predictive and preventive medicine,” said Vance Vanier, M.D., chief medical officer of Navigenics. “Modern genomic tools are instrumental in this shift, and studies that help inform physicians about the most responsible, ethical and effective ways to help people use this information to have impact on their health are crucial. Our partnership with Scripps Health represents our shared commitment to advancing the field of preventive genomic medicine.”…

“Personalized medicine stands to change the way people approach their health and wellness, as well as open up new genetic research opportunities,” said Peter Neupert, corporate vice president, Health Solutions Group, Microsoft, Inc.

The other side of the story

Just months ago, state health regulators across the country were cracking down on commercial gene-testing companies, threatening them with fines and jail time. These companies have been marketing genome tests to the general public, claiming to predict people’s risk of getting varous diseases. Some of the key companies issued warnings by New York State Department of Health, reported Forbes, included 23andMe (founded by the wife of Google co-founder and President of Google technology; and Google had invested $3.9 million in 23andMe as part of its own genome project) and Navigenics, along with their publicly traded partners Illumina and Affymetrix. Background on this genome project was covered here, along with U.S. Senate testimony and its inquiry into the science behind these genetic tests.

As part of its investigation, the U.S. Government Accountability Office had submitted DNA samples to several companies and reported: “Experts who reviewed the test reports concluded that they made predictions that were medically unproven, ambiguous, and provided no meaningful information for consumers.”

There are certain conclusive genetic tests for specific diseases, such as Huntington’s disease, that make sense to get in order to confirm a diagnosis if you have symptoms or to confirm you’re a carrier of a certain genetic disorder, said Dr. Ranit Mishori, M.D., with the department of family medicine at Georgetown University in Washington, DC. But only a few tests offer definitive results like that. Increasing numbers of genetic tests purport to tell you that you’re “at risk” for all sorts of diseases, but these lack scientific validity themselves.

In an article examining genomic profiling for disease risks, Dr. Kenneth Offit, M.D., MPH, with the Clinical Genetics Service, Department of Medicine, at Memorial Sloan-Kettering Cancer Center, New York, described the differences between conventional DNA research and these for-profit commercial gene tests claiming to be able to identify genetic risks, traits and ancestry for diseases. These for-profit genomic disease profiles have escaped the careful vetting that accompanies the introduction of new biomedical technologies, he cautioned. Personalized medicine is far from being scientifically supportable. Worse, these genomic tests have not been subject to prospective study and validation, physician education, and monitoring of laboratory quality by academic and regulatory groups. What isn’t being communicated to the public, he said, is that “there remains a fundamental concern about the validity of many of the tests.”

Besides the fact the genetic markers have been largely derived from retrospective correlation studies, these markers have not been validated and replicated, he said. There is an emerging consensus among scientists that these correlations may not be true disease markers at all but could be part of the “blizzard of false positives” that inevitably are identified in data dredges when hundreds of thousands of genetic markers are probed at the same time. In reality, while a single genetic marker may be associated with a disease, genetic susceptibility is far more complex than that. There have been more than 600 different genes, markers and chromosomal regions linked so far to the human obesity phenotypes, through the Human Obesity Gene Map project, for instance. And science is a long way from sorting out (if it ever does) their actual clinical meanings and how they all inter-relate. Consumers also need to be aware that there aren’t regulations in place to protect how their private genetic information may be used. The consequences of the misuses of the information are enormous. [Full story here.]

Earlier this year, the FTC also issued consumer warnings concerning genetic tests being sold to consumers, saying: “Be wary of claims about the benefits these products supposedly offer. Some companies claim that at-home genetic tests can measure the risk of developing a particular disease, like heart disease, diabetes, cancer, or Alzheimer’s. But the FDA and CDC say they aren’t aware of any valid studies that prove these tests give accurate results.” It also said that there was no credible science to support claims that a person can protect against serious disease by choosing special foods and nutritional supplements. “The FDA and CDC say they know of no valid scientific studies showing that genetic tests can be used safely or effectively to recommend nutritional choices.”

Nutrigenomics believes certain foods and supplements have special health-promoting qualities and can be prescribed for specific genotypes to “optimize health” and prevent diseases of aging. [Nutrigenomics was reviewed here and here] But the science isn’t there. According to Helen Wallace, Ph.D., Deputy Director of GeneWatch UK: “For most people, tailoring your diet to your genetic make-up is about as scientific as tailoring your diet to your star sign.”

© 2008 Sandy Szwarc