19 February 2014Genetics

A big moment: regulating personal genome services

The technology of genetic screening has come on leaps and bounds since the Human Genome Project finished sequencing the entire human genome, after 13 years’ work, in 2003.

Now direct-to-consumer genetic testing companies can look at sections of your genome to determine risks of developing certain diseases, and deliver the results in a matter of weeks.

California-based 23andMe offers such a service. Describing itself as the largest DNA ancestry service in the world, 23andMe’s personal genome service (PGS) will analyse the DNA it receives from the saliva kit it sends and provide a detailed report about a person’s risks of developing certain diseases.

The service, available online at a price of $99, offers reports on more than 250 diseases and conditions.


No doubt part of its appeal is the autonomy 23andMe’s service allows its customers, who can decide whether to take preventive measures after receiving their results.

However, the US Food and Drug Administration (FDA) saw this freedom in a medical context as a red flag. In November last year it ordered 23andMe to stop offering the service immediately, as it was being marketed without the administration’s authorisation.

The FDA defines the service as a medical device, because it is “intended for use in the diagnosis of disease or other conditions or in the cure, mitigation, treatment, or prevention of disease, or is intended to affect the structure or function of the body.”

The FDA’s director of in vitro diagnostics and radiological health Alberto Gutierrez wrote in an open letter to the company: “Some of the uses for which PGS is intended are particularly concerning,” because of how customers may manage their results, which could present a false positive or negative.

Gutierrez said that a false positive could lead a patient to undergo preventive procedures that could be “morbidity-inducing”, while a false negative “could result in a failure to recognise an actual risk that may exist”.

In December 23andMe said it would immediately comply with the FDA’s requests, although a spokesperson for 23andMe told LSIPR that the company was not commenting on matters related to its conversations with the FDA. “We are actively engaged in the regulatory review process,” she said.

“Our goal is to work with the FDA in a manner that demonstrates the value of testing for individuals and the validity of the science that underlies our service.”


Kevin Noonan, partner at McDonnell Boehnen Hulbert & Berghoff LLP in Chicago, says that while the FDA’s definition of the PGS as a medical device was “creative”, it was not “beyond the pale”.

“It’s just that the FDA is trying to get a handle on the services that are different from the way it handles most laboratory services in the US,” he says.

“The FDA’s saying that this falls within the provisions of a medical device part of what the FDA can regulate is an interesting extension of what they can do and inconsistent with what they’ve done in other instances,” he continues.

Most lab services are compliant with the clinical laboratory improvement amendments (CLIA), he explains. These are guidelines laid out by the US government for businesses offering clinical lab services to the public.

23andMe said it made the decision to comply with the CLIA guidelines to be consistent with other types of laboratory testing, although Noonan says it is a lot less regulated than the FDA with regards to drugs and medical devices.

He says that the real point in this case is the absence of a medical provider to interpret the test results for the customer.

“Even assuming the test results are right, there’s no doctor there to help you interpret what they mean,” he says. “For example, cancer diagnostics company Myriad has genetic counsellors.”

The easiest thing for 23andMe to do at this point is show that its sequencing methods are robust and reliable, Noonan adds.

The FDA said that companies offering devices intended to interpret genetic data for health purposes would generally need clearance or approval by the FDA, and that the type of regulation required would depend on the specific activities.

“The agency has extensive guidance that is applicable to the regulation of this type of test that can help manufacturers understand the regulatory options and data requirements,” a spokesperson for the FDA told LSIPR.

"Although US privacy laws are, in general, not very strong, one area that is increasingly provided federal law protection is personal health and medical information."

“The FDA is also working on draft guidance specifically outlining policies for direct-to-consumer genetic tests,” she adds. Many companies are offering a similar service to 23andMe’s, though some critics have suggested the companies use different methods to arrive at their results, raising issues of accuracy.

New York Times reporter Kira Peikoff sent her DNA to three PGS companies, including 23andMe, each of which gave different results.

In some cases the results couldn’t be more opposed: 23andMe named Peikoff’s most elevated risks as psoriasis and rheumatoid arthritis, which Genetic Testing Laboratories pegged as her lowest risks.

(Very) personal information

While the accuracy of these tests is a worry, there is also the challenge of preserving the privacy of individual donors.

Jeff Matsuura, of counsel at Alliance Law Group, said that critics of PGSs are concerned that the information provided by the services is not presented in the context of information, research and education. Rather, they claim that the information can be used “directly by consumers for health and medical services”.

He continues that supporters of open access argue that these services are presented as information services, not health recommendations.

Matsuura says that in the US, the primary rights of individuals, with regards to their genetic data, are privacy and protection against discrimination.

“Although US privacy laws are, in general, not very strong, one area that is increasingly provided federal law protection is personal health and medical information,” he says.

“A substantial amount of an individual’s genetic data is protected from disclosure by federal rules such as those imposed by the Health Information Portability and Accountability Act,” he says, which protects people against having their personal genetic information used against them.

He says that the Federal Trade Commission will most likely be involved with drawing up guidelines for regulating these services, to protect customers and its interests in the commercial marketplace.

Matsuura also predicts state regulatory agencies will play a part in the US: “The state regulators most likely to be involved will be state consumer protection agencies,” he says.

“It is also possible that state regulators in charge of licensing providers of medical services may become involved to the extent that the PGS offerings are viewed as medical services.”

A moving target

With the technology for these services evolving so rapidly, nailing down a definitive set of guidelines going to be a challenge.

Matsuura says he is certain there will be future regulatory issues. “As the dispute between the FDA and 23andMe illustrates, regulators are currently trying to understand at what point provision of genetic information becomes delivery of some type of medical service.”

There’s also the issue of permissible uses of genetic information by employers, insurers and other outside parties, as well as the rights of ownership, access, and control by an individual over his or her personal genetic data, he adds.

“One important theme that will have a dramatic impact on regulation of PGS is the fact that those services are, in effect, becoming mass market consumer services instead of highly sophisticated medical services,” he says.

“As PGS moves into the mass consumer marketplace, the regulators—such as the FTC and regional consumer protection authorities—will become involved and the legal, regulatory and policy issues will start to look more and more like traditional consumer protection issues.”

Noonan says it is in everyone’s interest to arrive at a solution “as soon as possible”. However, he says that while we have some understanding about a person’s genetic properties and how they’re relevant to a diagnosis, we’re still “a long way away” from having enough knowledge about how the components interact, and why they are significant.

“The biggest global problem that these companies have, and they all acknowledge it, is that there’s a lot more information that we need to understand,” he says.

It’s definitely early days, but progress in drawing up regulations in the area of personal genomic services will certainly blaze a trail, as access to personal genetic data becomes the norm in an era of personalised medicine.

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