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Policy Center to Use NHGRI Funds to Study Direct-to-Consumer Genetic Testing

NEW YORK (GenomeWeb News) – In order to get a sharper picture of the state of the new direct-to-consumer genetic testing industry — of how it works, what its players claim to do, and what buyers expect from these services — the National Human Genome Research Institute has asked the Genetics and Public Policy Center to conduct studies under a nearly $600,000 grant.
Under the funding, the GPPC at Johns Hopkins University will study issues related particularly to the ways in which offering genotyping tests and services directly to customers — as companies such as Navigenics, Decode Genetics, and 23andMe do — differs from genetic testing offered by healthcare providers.
"There is a lot of hype and a lot of angst about how personal genome testing will play out in health care," GPPC’s Law and Policy Director Gail Javitt said in a statement. "Ensuring that the public has information adequate to making informed choices about genetic testing is a prerequisite to realizing the public health benefits that have been promised from genetic medicine.”
She added, "What's missing are hard facts about this industry and its consumers, and what the public's motivations for, and experiences with, these tests have been."
The GPPC plans to analyze the current regulations that cover marketing, advertising, and selling of genetic testing directly to consumers, and they will attempt to study the validity of the claims sellers make in their advertising by comparing them to scientific literature.
“We seek to get at what are consumers’ motivations for using these tests, and then what they feel they have gotten after using these tests,” Javitt told GenomeWeb Daily News this week.
Another question that Javitt told GWDN is important is how the utility of a DTC test can be measured.
Javitt said that it is important to “give credence to consumers’ interest,” and to understand “both the potential benefits and the potential harms from this mode of test delivery.”
This is a question that has been brought up by federal and state regulators who have begun to consider whether or not tests and services that show the presence of a genetic mutation that have been linked with levels of risk or predisposition toward an illness are usable.
“Does it change behaviors? And if so, how?” Javitt asked. So far, Javitt explained, those matters have not been explored in a study.
The researchers at GPPC also will look at how state laws attempting to cover this very new field allow “some incoherence and lack of uniformity.” The center also will conduct some legal analysis that supports coordinated efforts to protect consumers, Javitt explained.
GPPC is currently drafting how these studies will be structured, and their work will not be complete until some time late in 2010. Until the information from these studies is released, there are questions about how to best structure studies of such a new and still small field.
“So few people are paying for these products that some sort of survey result can easily be skewed,” Amy Miller of the Personalized Medicine Coalition told GenomeWeb Daily News this week. Miller is concerned that when the small scale of this industry is coupled with the low response rate of consumers, that “there is not going to be a large enough population to get really valid results.”
The non-profit PMC is a group that represents companies, academics, patient groups, and others that are focused on advancing personalized medicine, including pharmacogenomic and genetic testing.
When it comes to using scientific literature to study the validity and utility of these tests, “How much literature does there have to be?” Miller asked.
Another question is how risk is calculated and presented to consumers, Miller added. “Different companies do lifetime risk differently; some use ten-year risk and some use lifetime risk,” in their assessments of how genetic disposition works, Miller explained.
The three companies mentioned above, Miller said, are currently preparing white papers to describe more about their methodologies for a December meeting at the Center for Disease Control and Prevention’s Office of Public Health Genomics.

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