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Discretion isn't the better part of regulation

16 May 2011
By Ruth Saunders
PhD researcher in law and bioethics at Queen Mary, University of London
Appeared in BioNews 607

The market for direct-to-consumer (DTC) genetic tests has grown dramatically as more companies offer tests for disease susceptibility, carrier status and drug response. While ethical and policy debates surround the tests, they have remained largely unregulated.

Most genetic testing companies operate within the US where the Food and Drug Administration (FDA) has statutory discretion in how it regulates DTC tests. In 2010, the FDA began to take unofficial action against genetic testing services it found problematic. I believe this has led to regulatory uncertainty and created a difficult climate for these companies. This – in turn – affects consumer access to tests and scientific progress.

Spring and summer 2010 was a challenging time for DTC genetic testing companies. They were heavily criticised by the FDA and regulation turned from being minimal in practice to sketchy and unpredictable.

Pathway Genomics and Walgreens announced a collaboration which would have put Pathway's DNA sample kits on supermarket shelves. The FDA responded to this announcement with an 'untitled letter' (not an official warning letter) stating Pathway's genome scan was an 'illegally marketed device' that required FDA clearance or approval before entering the consumer market. The 'untitled letter' led to Pathway pulling out of the consumer testing market.

Later in June 2010, the FDA sent more 'untitled letters', this time to 23andMe, deCODE, Navigenics, Knome and Illumina. In these letters, the FDA set out the genetic testing products and services it found likely to require FDA clearance or approval. Finally, the FDA sent fourteen more 'untitled letters' to lesser-known providers of DTC genetic testing services. These took issue with services including multigenic risk assessment, genetic testing for gluten sensitivity and prenatal genetic screening.

The variety of genetic testing services targeted makes it difficult to ascertain the FDA's motive and criteria for sending each letter. Take the letter to Illumina, for example. It is the only company that does not offer, or intend to offer, any form of DTC genetic testing service. But it is a key manufacturer of the SNP-reading technology purchased and utilised by the leading genetic testing providers, such as 23andMe. We can speculate that the FDA sought to put indirect pressure on the DTC genetic testing market by attempting to sever companies' relationships with a crucial supplier.

Even more confusing are the letters sent out in June. Matrix Genomics, for example, was targeted for its Breast Cancer Panel, which tests for the BRCA 1 gene associated with breast cancer. The FDA did not take issue with its other services, including genetic testing for Alzheimer's, Parkinson's and heart disease. Yet Graceful Earth, on the other hand, was targeted by the FDA for its Alzheimer's testing service.

The letters do not provide details about why a particular testing service or company was targeted. Perhaps the FDA earmarked particular tests because of their complexity or clinical quality. Perhaps it was concerned with companies' behaviour. Misleading advertising and marketing have been associated with DTC genetic testing companies.

The FDA has not clearly indicated its plans for regulating the DTC genetic testing market, except to say it will be a risk-based framework similar to the current clearance and approval processes for medical devices.

I believe this regulatory uncertainty and the FDA's test-by-test approach could adversely affect companies and the DTC genetic testing market. This, in turn, could affect consumer access to genetic information.

A reduced uptake of DTC genetic tests will restrict DTC companies' research into complex multigenic common diseases, which has the potential to benefit society as a whole. New and existing companies could have reduced access to capital as investors will be more cautious to invest in an unknown market.

Companies may also delay plans to introduce new products or marketing strategies because of the FDA's response. The current regulatory climate could dissuade third-parties from collaborating with DTC genetic testing companies, leading to a reduced access to pioneering technologies and software to read and interpret the genome.

It could take months or years before a new regulatory system governing DTC genetic tests is introduced. It certainly does not seem a priority for the FDA this year. But swift regulatory action is needed so companies can adapt their business models accordingly.

The current regulatory uncertainty limits companies' ability to make commercial and legal plans for the future. There's a fear that regulatory changes could force a fundamental alteration in a company's business structure. For example, 23andMe defines itself as a consumer-orientated company. Regulation to restrict DTC genetic testing so it requires a doctor or a health professional would force the company to overhaul its structure and strategy.

The FDA's discretionary authority makes it difficult for companies to anticipate the effect of regulation on their operations. A formal system of regulation is needed to provide meaningful protection to consumers, while promoting access to genetic information and scientific progress.

Direct-To-Consumer Genetic Tests: Misleading Test Results Are Further Complicated by Deceptive Marketing and Other Questionable Practices
US Government Accountability Office |  22 July 2010
In Vitro Diagnostics
US Food and Drug Administration |  18 April 2011
Letters to Manufacturers Concerning Genetic Tests
US Food and Drug Administration |  18 April 2011
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