Jerry Kolins, MD, was skeptical the first time he heard about 23andMe, one of several companies that will take your saliva and analyze it for 29 DNA markers for diseases or traits, all for $399.
"I know this is controversial," and that the information might have the potential to "confuse the consumer or not be accurate," says the laboratories medical director for Palomar Pomerado Health, a 426-bed health district in southern California. And he is aware that researchers have not found many genetic variants for most diseases or traits or how lifestyle impacts the process.
But after giving 23andMe a try himself, he became convinced that for many of his hospital system’s patients, it would be well worth the effort and expense.
PPH was the first health system in the nation to partner with the gene testing company to sell test kits to patients. And while many genetics experts furrowed their brows at the idea, Kolins says offering the tests can educate the public about the coming era of personal genomics.
PPH buys the kits from 23andMe at a 10% discount and uses that $40 to pay nurse practitioners to give patients 30 minutes of counseling about the tests, which are offered over-the-counter at two retail walk-in clinics and Pomerado Hospital’s outpatient pavilion, one of PPH’s two acute care facilities.
Kolins believes that while the test kits themselves will not bring in revenue, they will mean more patients. "This partnership will link more members of the community with Palomar Pomerado Health, and in doing so will improve our ability to serve, and business will improve," Kolins says.
But two federal genomics experts say any such health system effort to offer personal DNA tests to consumers so early, with so much scientific uncertainty about what the results really mean, is ill-advised.
What these tests tell you is "woefully incomplete, potentially misleading and potentially falsely reassuring or falsely alarming," says Alan Guttmacher, MD, acting director of the National Institutes of Health’s National Human Genome Research Institute.
"I would spend my $399 getting some running shoes, or on a nutritionist, or smoking cessation kit if I were a smoker. But I certainly wouldn’t spend it on this. I wouldn’t have the test done even if it were free, at this point in time," Guttmacher says.
While there are a small number of situations where a person can benefit from knowing partial genetic makeup, he says, a "well-done family history" is more useful today.
He cautions that there are "potential psychological ramifications of finding out that you have certain variations that seem to increase your risk for this or that, when for any disease, today we only know few of the gene variants."
Muin J. Khoury, MD, director of the Center for Disease Control and Prevention’s Office of Public Health Genomics, also says it's too soon for the tests to have any value outside of formal scientific studies. He and others wrote of their concerns about the potential for "commercial exploitation" in an article 16 months ago in the New England Journal of Medicine.
Kolins and other PPH officials know they will be criticized. But Kolins says he benefits by knowing he does not have the gene for cystic fibrosis, and that his chance of getting prostate cancer is slightly worse than that for the average man.
"I discovered I have the variant for hemochromatosis," he adds, which could be important for his children. He has less than half the risk for macular degeneration than the general population, and is sensitive to the anticoagulant drug warfarin. "If I needed that drug, the dose for me would be less than for the average patient."
"The carrier state and the drug sensitivities are important and immediately useful," he says, adding "I believe there should be no barriers to knowledge."
He thinks PPH is "innovative and creative" in offering the tests. It is working with physicians so they can answer questions when patients learn their results. Many will be more likely to come in for more regular screening and blood workups, especially if they hear they may have a higher risk for a certain disease, he says. "It’s helping me learn about my health."
Rajiv Mahadevan, director of business development for 23andMe, says PPH is the first of many hospitals his company hopes to partner with to offer these test kits to patients with some degree of medical supervision.
"We are basically at the start of this revolution, to see how this information can be incorporated into the healthcare system," he says. "What we’re definitely not advocating is that you take this information and [use it] to make any decision to stop taking your drugs. You have to have a conversation with your physician."
Mahadevan also knows many scientists disagree with the concept of direct-to-consumer marketing of DNA testing. "If you're going to do something revolutionary and try to make a huge impact in healthcare and personalized medicine, you almost expect that you'll get pushback," he says.
"We know there is one camp that doesn’t agree, and thinks someone should instead spend the money on running shoes. And that’s fine for them. But for others who see this is the path toward personalized healthcare, it's the beginning," he says.
It may be that just taking the test will provoke some people to be more proactive about their health. Scripps Translational Science Institute, also in San Diego County, is offering genetic scans from another company, Navigenics, to 10,000 people in an effort to see if just taking the test provokes healthy lifestyle changes.
"Genome scans give people considerable information about their DNA and risk of disease, yet questions have been raised if these tests are ready for widespread public use," says Eric Topol, MD, STSI director and the study’s principal investigator. His study will determine whether the genetic testing will change a person’s "lifestyle, behavior, diets, and psyche," Topol says.