Information Overload? as Genetic Testing Kits Sold Directly to Consumers Gain Popularity, Medical Professionals and Lawmakers Wonder If More Regulation Is Needed
Goodwin, Kristine, State Legislatures
Information is power, the adage goes, and in the brave, new world of direct-to-consumer genetic testing, that information has the potential to help people lower their odds for developing disease.
"In the not too distant future, we expect that physicians will be able to look at patient genetic profiles and assess the best health-care plan," says Anne Wojcicki, co-founder of the California-based genetic start-up 23andMe.
Today, consumers with curiosity, Internet savvy and a credit card can go online to one of dozens of direct-to-consumer genetic testing companies, and for a few hundred to a couple of thousand dollars find out if they are predisposed to certain cancers, Alzheimer's, diabetes and the like. The direct-to-consumer umbrella is a large one, with some companies offering genetic tests--like those that determine whether a person is a carrier of a gene for cystic fibrosis, for example--and others offering personal genomic profiles that predict whether a healthy individual has a genetic mutation that puts them at risk for disease. Still others in the market provide nutritional profiles based on a person's genes and another subset specializes in using genes to determine ancestry.
"There are tests that are beneficial," says Gail Javitt, a law and policy director at the Genetics and Public Policy Center at Johns Hopkins University, but there is a lack of uniform standards for measuring whether a test is valid or useful. "Right now," she says, "there is not a process for ensuring that those standards are being met, and as a result, consumers are vulnerable."
The situation has led to a patchwork of laws around the country and a quandary for policymakers and consumers alike: How to sift through the plethora of companies and technologies and know which tests and services deliver on their promises.
Michael Watson, executive director of the American College of Medical Genetics, worries some direct-to-consumer genetic tests trivialize a complex and nuanced issue. Since many diseases have unknown causes, he says, people might be misled into thinking that a genetic test alone can determine their risk of getting an illness. Factors such as family history, lifestyle and environment also can play a role. Scientists don't know exactly how genes and environment interact, and there is no genetic smoking gun for many of the conditions being tested.
What's more, Watson points to "a lack of understanding about the implications of a positive test result." Put simply, having a higher risk of developing diabetes doesn't mean that you're going to get it, and conversely, a person without an elevated risk has no guarantee he's immune.
"Many of the DTC companies ... draw no lines as to how strong the genetic influence needs to be for them to say it is diagnostic versus a low-level risk factor," Watson argues.
Genetic tests are not new. How they are marketed to the public, however, is.
"Direct-to-consumer is just a method of marketing the test," says Javitt. The technology is the same whether the test is administered at home or in the doctor's office. With direct access to testing, there may not be a doctor or genetic counselor involved to "provide a gatekeeping function to make sure the right people get the right tests and they understand what the tests tell them."
AN EVOLVING INDUSTRY
George Church thinks that in a few years your personal genome will be a household staple, as common as the flood and fire insurance that you hope to never use. Church, a professor of genetics at the Harvard Medical School and founder of the Personal Genome Project, envisions people will pay for this information because it will help them stay healthy and extend their lives.
"Nobody wants to hear that they have cystic fibrosis or Huntington's disease," Church argues, but they hope to have the information on file in case they need it some day. …