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Consumer gene testing in the hotseat

A week of hearings sows uncertainty for the fledgling consumer genomics industry.

Many concede the direct-to-consumer gene testing industry needs regulation. Credit: iStockphoto

Companies that sell direct-to-consumer (DTC) gene-testing kits have had a tumultuous time in the past ten days. On 19 and 20 July, at a hearing held by the US Food and Drug Administration (FDA), regulators heard comments from stakeholders about how the government might best oversee the validity and accuracy of such tests and other in vitro diagnostics. Later in the same week, at a congressional hearing, the US Government Accountability Office presented results from a damning year-long investigation into the DTC gene-testing industry that characterized some of the tests as "misleading" and "of no practical use", and the marketing surrounding them as deceptive and fraudulent.

Many in the field of genomics and personalized medicine — in both academia and industry — concede that regulation is necessary. Indeed, 23andMe of Mountain View, California, one of the leading DTC genomics companies, last month sent an open letter to FDA commissioner Margaret Hamburg and National Institutes of Health (NIH) director Francis Collins, requesting guidance from regulators on how to prove the validity of the tests. The fear, however, is that government backlash against questions over the tests' validity and inconsistent results from different companies will lead to an overly strict regulatory framework that will crush scientific innovation. Nature examines the issues at play.

Why are the investigations happening now?

The FDA first voiced concrete plans to regulate genetic-testing companies in May, when Pathway Genomics of San Diego, California, announced plans to sell its gene-testing kits over the counter at the Walgreens pharmacy chain. Within days, Walgreens backed out of the deal after the FDA said that it believed the test kit was a medical device requiring regulatory approval; the agency also revealed that it was considering action against companies that sell such tests online. A week later, Pathway Genomics, 23andMe and Navigenics — a genomics company based in Foster City, California — were asked to submit information to a congressional investigation of DTC genomic tests.

What was the outcome of last week's hearings?

Very little, in concrete terms. Commentators at the FDA hearing highlighted the need for consistent interpretation of DTC gene tests, but specific details for such regulation have so far been scant.

At the congressional hearing, Jeffrey Shuren, director of the FDA's Center for Devices and Radiological Health, said that after a further 60-day comment period the agency planned to develop "a draft oversight framework" aimed at 'lab-developed tests' (LDTs), which are defined as tests developed and used by a single laboratory. DTC gene tests have generally been considered a subset of LDTs, but the FDA has said that because most DTC gene tests are not developed entirely inhouse — they often use a gene chip bought from a third party — they should not be classified as LDTs. It is therefore unclear whether the framework will apply to DTC tests.

What might regulation of the DTC genomics industry look like?

The FDA has not yet revealed a plan, but has said that tests would be regulated based on the level of risk they pose to consumers — that is, how much harm would be caused by an incorrect result.

Scientifically, the biggest challenges include validating the gene markers used by different tests and understanding what standards to use when determining different tests' accuracy. The NIH has proposed a voluntary genetic-testing registry to which companies could provide details of their tests; some have suggested that a mandatory version of such a registry could help FDA officials to judge whether tests are scientifically sound. Another challenge is to make regulations flexible enough to accommodate the rapidly evolving science of personal genomics — for example, allowing companies to add new elements to their tests as data emerge.

In an interview yesterday, FDA officials said that for now, the agency will pursue its current course: pinpointing individual companies that market tests it believes should be regulated as medical devices. So far, a total of 19 companies have received such letters. Some industry experts have noted, however, that this approach is problematic in the long term because it leaves companies with no clear rules to follow to avoid being targeted.

How many consumer gene-testing companies are there?

Part of the problem is that there is no exact count. The Genetics and Public Policy Center at Johns Hopkins University in Washington DC publishes a list of such companies, last updated on 28 May. The current tally is 30, but that list includes only companies from which consumers can order tests and receive their results with no medical oversight. Some of the companies that have received letters from the FDA, such as Interleukin Genetics of Waltham, Massachusetts, and Sequenom of San Diego, are not on the list.


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The Human Genome at 10

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Agenda for FDA meeting, 19–20 July

Congressional hearing on 'Direct-To-Consumer Genetic Testing and the Consequences to the Public Health'

Genetics and Public Policy Center, Johns Hopkins University

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Katsnelson, A. Consumer gene testing in the hotseat. Nature (2010).

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