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FDA Says Knome's DTC Whole-Genome Sequencing Service Requires Its Review

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By Julia Karow

This story was originally published June 14.

Almost three years after Knome launched a whole-genome sequencing and interpretation service directly to consumers, the US Food and Drug Administration last week sent a letter to the company, saying that its KnomeComplete offering is a diagnostic device that requires the agency's review because consumers may make medical decisions based on the results.

The FDA advised the company to "take prompt action" to respond to the letter, and invited it to meet with the agency to discuss whether parts of its offering do not need its review and what kind of information Knome needs to submit to legally market its remaining tests.

A Knome spokesperson told In Sequence that the company is still reviewing the letter and "plans to fully cooperate and work with the FDA."

The agency sent similar letters to 23andMe, Decode Genetics, Navigenics, and Illumina, saying that their respective DTC services, and, in the case of Illumina, its HumanHap550 array that is used by several of these services, require its review.

Knome launched its consumer sequencing service, called KnomeComplete, in late 2007. It includes a customer's complete genome sequence, a proprietary genome browser called KnomeXplorer, personalized reports describing the genetic basis of traits or conditions and known gene-to-disease associations, and an in-person discussion of the results with geneticists, clinicians, and bioinformaticians. As of earlier this year, the service cost $68,500.

Knome also offers a stripped-down version of its service, called KnomeSelect, which analyzes about 20,000 genes instead of the whole genome and costs $24,500 for individuals and $19,500 per person for families. That service is not mentioned in the FDA's letter.

As of early this week, Knome's website listed two types of services on its website, one for researchers and one for "physician-directed families," which includes KnomeComplete and KnomeSelect, according to the spokesperson.

He said he did not know whether those services require a prescription from a physician but stated that “Knome has always worked with individuals, families, and their physicians to help them understand specific genetic concerns they may have.”

Illumina's Individual Genome Sequencing service, which was launched a year ago and is not mentioned in the FDA's letter to Illumina, does require a prescription. Knome, along with several other firms, provides interpretation services for Illumina's IGS service.

Knome CEO Jorge Conde told In Sequence earlier this year that the company reports on "a pretty wide range of conditions and traits and pharmacogenomics associations".

However, a disclaimer on the firm's website states that "Knome does not provide medical advice, diagnosis, or treatment," that "analyses and reports provided by Knome are for informational purposes only," and that customers should consult their physician "regarding any medical condition, before starting any new treatment, and before stopping any treatment that has been prescribed for you."

But apparently, that is not good enough for the FDA. In its letter to Knome, dated June 10 and posted on the FDA's website under a section called "Letters to Industry," the agency cites a meeting with Knome last August, in which the company described its KnomeComplete offering as "a software program that analyzes genetic test results that are generated by an external laboratory in order to generate a patient-specific test report."

The software, KnomeXplorer, "describes the genetic basis of specific disease traits or conditions," and "consumers may make medical decisions in reliance on this information," according to the letter.

As such, the service is "a diagnostic device" that is subject to the requirements of section 201(h) of the Federal Food, Drug, and Cosmetic Act and its Medical Device Amendments. The amendments require premarket regulation of medical devices that are intended for use in humans.

The FDA pointed out specifically in its letter that it does not consider KnomeComplete as a laboratory-developed test, which would not require its review, because it is "not developed by and used in a single laboratory."

In fact, Knome currently uses two laboratories to sequence its customers' genomes: Chinese genome center BGI and Houston-based SeqWright, which runs a CLIA-certified lab.

FDA said that Knome "has never submitted information on the analytical or clinical validity of its tests to FDA for clearance or approval" and the agency is unaware that the firm has "an approved application for premarket approval….or an approved application for an investigational device exemption" or has notified the FDA of its intent "to introduce the device into commercial distribution" via 510(k) approval.

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