November 2010

The FDA versus Personal Genetics Firms

There is no doubt that the information from personal genome sequencing is priceless. However, the opportunities and innovations offered by personal genomics come coupled with legitimate apprehension. For example, are there standards in place to protect the consumer and ensure the analytical and clinical validity of the data provided?


DNAThe Human Genome Project resulted in the identification and mapping of approximately 24,000 genes. This laid the foundation for genetic testing as we know it today. Within years of the project’s completion, personal genomics firms sprouted up across the world, offering customers the opportunity to get their entire genome, or portions of it, sequenced for a price. Companies like 23andMeNavigenicsdeCODEme and Pathway Genomics offer genome-sequencing tests directly to consumers over the internet, allowing them to gain information about their predisposition to certain diseases or conditions, pharmacogenomics, ancestral background, features and characteristics.

Medical Benefits of Personal Genomics

There is no doubt that the information from personal genome sequencing is priceless. For a few hundred to several thousand dollars and a vial of saliva, consumers get the opportunity to be more hands-on about their health. The data provided through these tests can inform people about genetic variations that could put them at risk for Alzheimer’s disease, Parkinson’s disease, breast cancer, muscular dystrophy and a slew of other conditions. It also can allow physicians to effectively tailor treatment plans based on pharmacogenomic assessments that give details about a patient’s ability to metabolize certain medications. The benefits of such genetic tests are innumerable.

Issues Surrounding the Industry

The opportunities and innovations offered by personal genomics come coupled with legitimate apprehension. For example, are there standards in place to protect the consumer and ensure the analytical and clinical validity of the data provided? Are the tests strictly informative and recreational, or are they medical devices? If these genetic screens are considered medical devices, should they be marketed over the internet directly to consumers or should this process require the involvement of a physician or a genetics expert?

Sparked by these issues and Pathway Genomics’ decision to begin selling saliva test kits right off the shelves of Walgreens stores, the U.S. Food and Drug Administration wrote letters to several personal genomics firms requiring premarket clearance of the genetic tests they provide because they are considered to be medical devices. By the FDA’s definition, a medical device is something that is “intended for use in the diagnosis of disease or other conditions, or in the cure, mitigation, treatment, or prevention of disease.” Based on this definition, the FDA is requiring that the tests be subject to regulation.

The FDA also held a public meeting on “Oversight of Laboratory Developed Tests.” Based on transcripts of the two-day meeting, the agency appeared dedicated to being open, transparent and interested in the opinion of the public and vested in protecting consumers. Although the issues that are more pertinent to the direct-to-consumer personal genomics industry were not the general focus, several issues such as clinical validity and utility of LDTs, consumer privacy and consent were discussed.

Among the concerns mentioned was the direct access consumers have to genetic tests. Some argued that access should require the involvement of physicians or health care providers, suggesting that, without the involvement of physicians, consumers run the risk of making harmful, misinformed decisions. On the other side of the spectrum, heads of these firms argued that limiting consumer access by requiring the involvement of physicians would deprive customers of their right to know about their genetics and to become involved in their health.

Personal GenomicsShortly after the meeting, the U.S. Congress also held a hearing with personal genetic firms that discussed “Direct-to-Consumer Genetic Testing and the Consequences to the Public Health.” In this meeting, the U.S. Government Accountability Office (GAO) presented evidence from a year-long undercover investigation of several personal genomics companies. The GAO suggested the tests were “misleading and of no practical use,” pointing out that identical samples from one individual produced varied, and often conflicting, results across the four companies investigated. Claims ranged from blatant disregard for consumer consent, to lack of utility of the tests to deceptive marketing tactics.

The actual fallout of these meetings has not yet been fully articulated. What is definitive is that federal regulation is looming over the DTC genetic testing industry and that it will be designed to ensure that consumers are protected. This likely will include regulation that ensures validity, accuracy and utility of the genetic tests; consumer consent; consumer privacy and involvement of health care providers.

For Better or for Worse?

With the promise of premarket clearance of DTC genetic tests on the horizon comes the question of whether such guidelines ultimately will hamper the advances this industry promises. In the face of regulation, Pathway Genomics’ partnership with Walgreens practically has dissolved. Both Pathway and Navigenics now require consumers to sign up through either their “physician or corporate wellness program.” DeCODeme currently is not offering tests online that scan for cancer and cardiovascular conditions. Other firms might opt to move their businesses elsewhere, outside the borders of this country and federal regulation. As of 2007, 13 states prohibited direct-to-consumer genetic tests, whereas 25 states, plus the District of Columbia, permitted it. In light of everything that has occurred, it will be interesting to see how federal oversight ultimately will impact this industry.

Lola Olufemi (olufemi_lola@yahoo.com) is a doctoral candidate/NSF BRIDGE fellow at the Southern Illinois University School of Medicine.


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