Citing the need to prove that direct-to-consumer genetic assays are analytically and clinically accurate, CDRH sent letters to five genetic testing firms June 10 requesting pre-market submissions for the companies' already-marketed services.

Four of the companies, ¹ deCode Genetics ( deCODEme Complete Scan ), ² Navigenics ( HealthCompass ), ³ 23andMe ( Personal Genome Service ) and ⁴ Knome ( KnomeCOMPLETE ), offer direct-to-consumer genetic screening services. Individuals can order the services online and receive information on risks for developing certain diseases, or passing diseases to offspring, or for predicting response to certain medication, the firms say.

The fifth, ⁵ Illumina ( Infinium HumanHap550 array), provides microarray products to two of the DTC firms.

Public scrutiny of DTC genetic services has been growing in the past several months.

FDA had sent a letter to another company, Pathway Genomics, May 10, questioning the approval status of its genetic screening services. The agency letter came in anticipation of Pathway's plans to start selling saliva sample collection kits at Walgreen's retail outlets, and it ultimately caused Walgreen's to delay those plans ("⁶ Also see "FDA Cites Long-Term Precedent In Blocking Retail Genetic Screening Plans" - Medtech Insight, 17 May, 2010.).

Subsequently, the House Energy and Commerce Committee launched an investigation of DTC genetic testing firms in mid-May, sending letters to Pathway Genomics, 23andMe and Navigenics ("⁷ The Gray Sheet' May 24, 2010).

In addition, National Institutes of Health Director Francis Collins, a champion for genomic screening, has been pressing FDA to be more aggressive in the space (see ⁸ Also see "NIH Chief Collins Supports More Aggressive DTC Genetic Testing Oversight" - Medtech Insight, 14 June, 2010.).

DTC companies have claimed that FDA approval is not needed because the testing is conducted at the firms' laboratories, which are cleared to construct and perform their own "laboratory-developed" test services under the Clinical Laboratory Improvement Amendments.

But FDA charges that several details of the genetic screening offerings make that logic faulty. In particular, the lab-developed test exemption requires that all of the testing is completed in the same lab in which the test is developed, FDA notes.

"You should be aware that FDA does not consider your device to be a laboratory developed test because the 23andMe Personal Genome Service is not developed by and used in a single laboratory," FDA Office of In Vitro Diagnostic Device Evaluation and Safety Director Alberto Gutierrez writes to 23andMe.

Gutierrez directs the same statement to deCode and Knome. FDA met with all three firms to discuss their offerings last summer, the letters disclose.

For Knome and 23andMe, the letters point out that software analysis of the test results is conducted in a separate laboratory from the actual genetic testing. For deCode, the agency notes that the firm obtained components "other than general purpose or analyte- specific reagents from other manufacturers."

Gutierrez does not make the "single laboratory" claim for Navigenics, which says it also met with FDA in July 2009, but he still presses the need for pre-market review, citing, as in the other letters, specific diagnostic claims made that consumers may rely on to make medical decisions.

He also points out that each of the firms distributes sample collection kits directly to consumers via company websites, and, in the case of 23andMe, through Amazon.com. In the pursuit of Pathway Genomics, Gutierrez cited the fact that patients collect their own samples as a primary reason why its offerings fall under FDA jurisdiction.

In the case of the Illumina, FDA notes that the firm has received clearance or approval for some assays, but not for the HumanHap550 arrays, which the company sells to 23andMe and deCode. FDA officials met with Illumina executives last July.

Company Responses Are Mixed

The firms should all take "prompt action" in responding to FDA, Gutierrez writes.

Initial reactions from the genetic testing firms to the letters were mixed.

"We disagree with the FDA's conclusion," 23andMe said in a statement.

The company says it is "sensitive to FDA's concerns, but we believe that people have a right to know as much about their genes and their bodies as they choose."

The firm says it is open to continued discussions on the matter.

Some of the other firms were more agreeable.

"We welcome federal oversight," Navigenics VP Amy DuRoss said, noting that her firm is the "only personal genomics company that is approved by state regulators to operate in every state," including the very strict New York.

Kari Stefansson, deCODE's executive chairman and president of research, also signaled general cooperation.

"While we have not yet had the opportunity to review in detail the technical questions raised, we can say that we feel the agency's interest in this field is timely, appropriate and welcome," he said.

Knome signaled its intent to "fully cooperate and work with" FDA.

Illumina says it is still studying the agency's letter.

- Sue Darcey ( ⁹ s.darcey@elsevier.com )

FDA To Regulate Direct-To-Consumer Genetic Tests

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