Despite warnings from health regulators, prominent researchers, and industry observers that genetic tests are not ready to be marketed directly to consumers, the American public feels it is ready to embrace genetic testing, a recent survey by Cogent Research has found.
According to the findings, 91 percent of 1,000 individuals surveyed said they would have a genetic test for at least one disease condition, and “most say they would do so regardless of their doctor's opinion or input.”
However, despite their enthusiasm over genetic testing, consumers still have little understanding of what to do with the results from such tests, when to consult a doctor, whether to tell family members, and how genetic data can and cannot be used, according to the study.
The results of the annual report are based on a 100-question web survey of 1,000 Americans conducted between May 30 and June 9. Cogent released a summary of the results but declined to provide Pharmacogenomics Reporter with the full report, stating that “We do not provide the data to any outside organizations.”
The report, “Cogent Genomics Attitudes & Trends,” measures the public’s awareness, interest, and preferences of genomics and its applications. “From personal genome-mapping mail-order kits to the increasing legal protection of results, genomics has moved from the scientific fringe to a seriously considered diagnostic tool for American consumers,” said the Cambridge, Mass.-based research firm, whose clients include Genzyme, Pfizer, Boston Scientific, Critical Therapeutics, and Aetna.
The results of the survey are in stark contrast to the view held by some health regulators that genetic tests should not be sold to consumers without a doctor’s permission.
Some state officials are even looking to ban or regulate the practice. In June, Navigenics, 23andMe, and Decode Genetics' DecodeMe business unit were among 13 genetic-testing companies to receive warning letters from the California Department of Public Health ordering them to stop marketing their genetic tests to California residents.
According to the CDPH, the companies were violating state law by failing to obtain a license to conduct laboratory testing in the state, and by allowing state residents to order genetic tests online and not through a licensed physician [see PGx Reporter 06-25-2008].
The CDPH’s letters follow similar cease-and-desist orders the New York State Department of Health sent in April to 23 DTC genomics-services and genetic-testing companies.
Fearing that other states following suit would have a chilling effect on the adoption of genetic tests, personal genomics firms such as 23andMe and Navigenics have said state regulatory actions are confusing, and urged the federal government to step in with more definitive regulations.
For its part, the US Food and Drug Administration has said that it is watching the evolution of the burgeoning personal genomics industry with interest, but has yet to take a position on the regulatory front.
“On the one hand, consumers feel more empowered … yet many lack a full appreciation of when and how genetic information can be used.”
Meanwhile, at a time when the regulatory aspects of the personal genomics industry are in flux, Cogent says that its survey shows that “the majority of consumers feel informed about their family medical history and would consider taking genetic tests to determine if they carry disease traits in their own genetic code.”
"The proliferation of in-home tests, from 23andMe, DecodeMe and others, the equivalents of genetic house calls, may make genetic testing as common as in-home pregnancy tests,” Cogent Research Partner Christy White said in a statement. “Our research proves that consumer knowledge and interest of genomics is on the rise, though conversations surrounding the benefits of testing — between patients and doctors — remain extremely low.”
And although 23andMe, Navigenics, and Decode insist that their personal genomics services are not intended to make medical decisions, Cogent’s research shows that “an increasing number [of people] believe genetic testing will give them the ability to take a proactive approach to overall health and prevent diseases.”
In fact, Cogent’s survey revealed that more than half of all individuals surveyed said they are ready to make healthcare choices based on genetic test results. Specifically, the approximately 55 percent of respondents, or around 550 individuals, said they would increase the frequency of check-ups after receiving results from genetic tests, while about 13 percent said they would be willing to undergo voluntary prophylactic surgery based on results of their genetic test.
Yet despite the optimism regarding genetic testing described in the survey, it identified some potential concerns, including the risk that a person’s genetic data might be used against him or her by third parties — despite a new federal law prohibiting such action.
According to results of the study, three-fourths of survey respondents, or around 750 people, were unaware of the Genetic Information Nondiscrimination Act, which was signed into law in late May and bars insurers and employers from using an individual’s genetic information to discriminate against them.
In an article published in the New England Journal of Medicine in June, Kathy Hudson, director of Johns Hopkins University’s Genetics and Public Policy Center, Francis Collins, director of the National Human Genome Research Institute, and M.K. Holohan, an NHGRI senior health policy analyst wrote that now that GINA has become law, life-science stakeholders should focus on educating physicians and patients about their rights [see PGx Reporter 07-02-2008].
Hudson has said that GPPC is planning a “major” public educational project, collaborating with patient organizations, as well as providers and researchers, on the genetic nondiscrimination law.
The survey also found that the cost of genetic tests is a major deterrent for consumers, and approximately 49 percent of those surveyed by Cogent, or around 500 people, said they would be less likely to have a genetic test if their health insurance did not cover it.
While doctors have a significant role to play in advising consumers about genetic testing and a majority of personal genomics companies claim they employ licensed physicians who order the tests, physicians have so far played a bit role in DTC genetic tests. Only four percent of survey respondents said they have ever discussed genetic testing with their doctor.
However, 88 percent of those surveyed, or around 880 individuals, said they would talk with their doctor if they received a test indicating they were at risk for a specific disease. Only one in three would inform their families of the results of such a genetic test.
Overall, Cogent’s survey shows that while there is consumer excitement over this new technology, the public has little understanding about what to do with the results of a genetic test.
"There's a paradox here: on the one hand, consumers feel more empowered about managing their health and interest in genetic testing is growing, yet many lack a full appreciation of when and how genetic information can be used, and how they should respond to the information they receive about their profile,” White said.
The study was entirely funded by Cogent, the company said.