This article has been updated from a previous version to clarify Esther Dyson's comments.
WASHINGTON, DC (GenomeWeb News) – A panel discussion hosted by the Department of Health and Human Services here yesterday served as a forum for several direct-to-consumer genomic testing firms to address a growing number of scientific, ethical, and regulatory questions surrounding their business models.
At a workshop called “Understanding the Needs of Consumers in the use of Genome-Based Health Information Services,” executives from Navigenics, DeCode Genetics, and 23andMe joined representatives from the research community and other interested parties to hash through a number of problems and possibilities facing the quickly evolving field.
“Genomics can make the next 10 to twenty years really exciting if we do it the right way,” said Muin Khoury, director of Public Health Genomics at the Centers for Disease Control and Prevention, but he warned that he does not want to see genomics go the way of full-body imaging — an expensive fad with little more than promise backing it up on the clinical end.
Khoury earlier this year criticized the burgeoning DTC genetic testing market in the pages of the New England Journal of Medicine as a practice that is not ready for public consumption.
At yesterday’s panel discussion, he said that the industry doesn’t have “a good handle on the oversight … or on the analytic performance of these assays.” Currently, he said, “we don’t know if the information we get from one company is the same we get from another company.”
As an example, he said that the predicted risk of heart disease based on genetic factors could change if a new marker is discovered.
Jim Evans, a molecular biologist at the University of North Carolina at Chapel Hill and editor of the journal Genetics in Medicine, agreed, noting that he is concerned that “mass marketing the appeal of individual genomics takes our eye off the real value of this type of endeavor.”
Genome-wide association studies offer “incredible potential” for understanding disease, Evans said, but knowing that you have a 44 percent risk for heart disease versus a 52 percent risk is not enough to be meaningful, and it could lead people to feel they have a free pass to engage in risky behaviors.
“Why don’t you think I should be able to do this?” asked health sciences investor and advocate Esther Dyson, who is on the board of directors of 23andMe and said she has used the company's service. Dyson said that she has learned a lot from using the service and understands its limitations in making health decisions.
Evans responded that consumers “deserve a clear explanation, and not kind of a marketing ploy that this is useful medical information, because it’s really not.”
Alan Guttmacher, deputy director at the National Human Genome Research Institute, said he agreed with Evans.
“If you read [the companies’ websites] carefully, it’s extremely well worded, but if you walk away from the sites with a general impression, it may not always match what the wording of the site is,” he said.
Representatives from the consumer genomics industry were quick to defend their practices. Linda Avey, co-founder of 23andMe, stressed that the company is “giving our customers information about what’s coming out of the research community” — not “clinically validated” information.
“We’re really arming individuals with the information of their genomes, but we’re not really focusing on these individual tests. We’re giving our customers information about what’s coming out of the research community,” she explained.
She said that the company is looking to gather information from customers that can then be meshed with information from new studies coming out, particularly about adverse reactions to drugs. “We need to work together as a community — no one player in this space is going to make this happen,” she said.
Jeffrey Gulcher, chief scientific officer of DeCode, defended against criticisms from Khoury and others that the information from genetic testing is not more valuable than information from family histories, noting that 95 percent of prostate cancer patients do not have a diagnosed case of prostate cancer in their families.
Gulcher said he believes genomic information can help “prioritize patients” by putting different information types together. This information could be used to target patients who need earlier intervention, or it could be used to help patients make decisions about changing their lifestyles.
These common genetic risk factors are “adding something much beyond family history,” he said. “Family history alone will not substitute for this genetic profile.”
He added that the company’s genetic risk tests “are very well clinically validated indeed … if the definition of clinical validity is that you discover them among one population and then you replicate them among multiple populations.”
Nancy Johnson, a former Congresswoman and current Senior Public Policy Advisor for Baker Donelson, said the major challenge today is that the “change of pace” of the technology “is so rapid that we have to accelerate the communication between the private sector and regulators.”
Mari Baker, CEO of Navigenics, agreed, noting that the private and public sectors need to “work together more aggressively than we have in the past and in a more intelligent fashion, so the industry, if they have any sense, won’t indulge in an explosion of direct-to-consumer advertising.”
She also said that the community should look to recent moves by the states of New York and California, which ordered a number of consumer genomics companies to stop offering their tests to residents, “as an opportunity to talk about what they’re doing, and work together to get more standardized tests.”
“Transparency and openness will save this industry, but if there isn’t that kind of openness, we will erode that trust,” she added.