By Kevin Davies
June 18, 2008 | Personal genomics start-ups including Google-backed 23andMe and Navigenics have until next week to respond to cease-and-desist letters issued by the state of California’s Department of Public Health (DPH) Laboratory Field Services Unit.
In the wake of consumer complaints and similar action from New York State, California last week issued warning letters to 13 providers of genetic tests to California residents.
“People are very concerned about the accuracy of the tests and the aggressiveness of some of the companies,” Lea Brooks, public information officer for California’s DPH, told Bio-IT World. “The cost isn’t something that we would investigate… but that’s what people have complained about. But we’re concerned about the accuracy [of the tests]. Do they even have a license? Should they be offering these tests to California residents?”
According to Brooks, the DPH requirements for genetic testing are threefold: “Any business offering genetic tests to California residents must be licensed as a clinical laboratory in California [and] must have a CLIA certificate for laboratory testing.” Furthermore, “in California, all genetic tests must be ordered by a licensed physician.”
Of the 13 businesses under investigation – including companies outside California and the United States – Brooks added, “We’re concerned that some don’t have a license; that the tests have not been ordered by a licensed physician; and both in some cases.” The major companies, including 23andMe, Navigenics, and Decode Genetics (Iceland), all use CLIA-registered (Clinical Laboratory Improvement Amendments) labs for DNA genotyping. (23andMe partners with Illumina, while Navigenics collaborates with Affymetrix.) But while physicians may be involved in approving the services, validating the calculated risks, and/or disseminating the final genotyping results, consumers can order the services directly with no input from their general practitioner.
As part of California’s cease-and-desist order, the 13 businesses have been directed to submit a plan of correction to the DPH within 14 days – that is, by June 23/24. “That means it’s up to the company to respond to our questions,” Brooks says. “It will be up to the [DPH] investigators to be persuaded one way or the other. These ‘plans of corrections’ need to prove they are in compliance with the law or show how they will come into compliance with the law.”
Companies Respond
Having confirmed receipt of the California letter, 23andMe’s Manager of Communications Rachel Cohen issued a statement that said, in part: “We recognize that there are questions in some states about the application of existing regulations governing clinical laboratories to this entirely new informational service. We are engaging regulators in several states (including those in California) and are eager to work with them in the development of an appropriate regulatory framework for the personal genomics industry.”
Navigenics also issued a statement declaring that it believed it was “in full compliance with California law… All of Navigenics (sic) tests are 1) performed in a CLIA-certified lab in the state of California and 2) reviewed and approved by a California-licensed physician.” President and CEO Mari Baker added: “We are confident that our approach, which incorporates physicians, genetic counselors, and a CLIA-certified lab, is evidence of our commitment to quality and compliance while providing consumers with a valuable health and wellness service.”
Meanwhile, SeqWright’s Marc Dantone said that the Houston company had not received a letter, but it “will comply with California and New York state law.”
Informed Consent
Most personal genomics’ consent forms stress the educational, non-diagnostic nature of the genome scanning services. 23andMe expressly warns that “… information you learn from 23andMe is not designed to diagnose, prevent, or treat any condition or disease or to ascertain the state of your health … 23andMe's services are intended for educational, informational, and research purposes only.”
In February, 23andMe co-founder Linda Avey told a Department of Health and Human Services committee that “individuals have a right to access their genetic information and learn about themselves in a new way… They should not have to pay for those services through a health professional to find out those facts about themselves.” And she added: “Federal and state government physicians should not impede information development in [a] paternalistic view about what people can handle.”
Navigenics makes available a certified genetic counselor at the client’s option, but says its services “do not establish a doctor-patient relationship and are not intended as medical advice.” The company urges potential clients “to work with your physician or other qualified health-care provider to develop an optimal personalized health management strategy.”
And Iceland’s DecodeMe service cautions: “The Genetic Scan product is for informational purposes only, is not medical advice, and is not a substitute for professional medical advice, genetic counseling, diagnosis, or treatment.”
New York Rules
But these caveats appear unlikely to prevent the nation’s two most populous states from clamping down. Earlier this year, New York State warned several companies that genome tests could not be performed on samples from New York residents without formal state approval.
Ann Willey, director of the Office of Laboratory Policy for New York State, who is both a board-certified geneticist and a lawyer, spoke last week at CHI’s Beyond Genome conference in San Francisco. “I think of this genomic profiling paradigm … as really a star,” Willey said. “By the time we get done regulating it… we’re going to have to force it into a globe and shear off some of its sparkling and promising aspects.”
“Brick-and-mortar labs must have New York State permits,” said Willey. “To date, none of the labs that offer testing for whole-genome sequencing… hold New York State permits for that purpose. So that’s why New York State sent letters to their intermediaries saying, ‘If you’re going to do this, the labs you used must be permitted’ … Until they are, this service is not available in New York State.”
Willey said she hoped her office could be flexible and enter productive dialogue with whole-genome service providers. “It’s not easy for us as regulators, so it’s not easy for you as scientists,” she admitted. “We’re all in this together. We’ve got to come out of the other end of this with the application to a new paradigm to personalized medicine. Bureaucracy moves slowly.”
New York’s testing regulations, which date back to 1964, cover laboratories that handle any specimen derived from the human body, including paternity testing, forensic profiling, insurance underwriting, employment testing, and preimplantation genetic diagnosis. Many of the state’s rules are more stringent than CLIA’s, said Willey. Since 1965, New York State could require out-of-state labs to meet in-state standards, that is, any lab receiving a specimen from the state.
As yet, none of the personal genome providers are covered by FDA regulations. Willey says she talks regularly to the agency and would defer to it. “We don’t want to find ourselves in a situation of having approved a test and having the FDA disapprove it, and we don’t want to duplicate efforts,” she said.
Willey stressed that the regulatory system was not targeting genetic testing, but applies to all clinical testing. However, the arrival of new personal genomics companies has raised some difficult questions. “Who are these entities?” Willey asked rhetorically. In some cases, the companies may not necessarily “receive the specimen from the human body, or perform the analytical procedure, or analyze the data,” but they combine that information and perform the data interpretation.
Willey said regulation of these companies could potentially fall into several different categories, including the practice of medicine, or a laboratory, or information management. “The jury is out, we haven’t decided what it is,” said Willey. “Once we make it a duck, it better quack like a duck. No matter what box we put it in, we put constraints on it… But we don’t want to leave them in no box, because we have no oversight.”
Willey said her office regularly sends warning letters to laboratory testing facilities, from tests on human genes to microbial flora. “We’re not picking on this [genome analysis] industry. We really want to make this work.
“But I’m from the government and I can’t always help.”
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