NIH genetic test registry

4 minute read

The National Institutes of Health directorate this week announced the creation of a new database for tracking and providing public information about commercial gene tests:

The National Institutes of Health announced today that it is creating a public database that researchers, consumers, health care providers, and others can search for information submitted voluntarily by genetic test providers. The Genetic Testing Registry (GTR) aims to enhance access to information about the availability, validity, and usefulness of genetic tests.
Currently, more than 1,600 genetic tests are available to patients and consumers, but there is no single public resource that provides detailed information about them. GTR is intended to fill that gap.

It is hard to tell much from the press release, but I think it foreshadows two significant aspects of the registry. First, the NIH seems to be entering the realm of quality control:

GTR genetic test data will be integrated with information in other NIH/NCBI genetic, scientific, and medical databases to facilitate the research process. This integration will allow scientists to make, more easily and effectively, the kinds of connections that ultimately lead to discoveries and scientific advances.

This would enable NIH to provide an independent summary of whether test markers correspond to clinical studies. Second, the registry seems to be encouraging active engagement of companies in the process:

During the development process, NIH will engage with stakeholders such as genetic test developers, test kit manufacturers, health care providers, patients, and researchers for their insights on the best way to collect and display test information. In addition, other federal agencies, including the Food and Drug Administration and the Centers for Medicare and Medicaid Services, will be consulted.

I’m not sure what this means for the possible regulation of tests in the future. The engagement of the FDA at this point may presage greater involvement of the agency in genomic testing. The involvement of Medicare in the database seems more important, as the federal government will likely become the largest purchaser of genetic testing in the near future.

In relation to the Medicare/Medicaid involvment, I discussed candidate Obama’s record on gene testing in 2008 (“Good only for entertainment value… and, of course, the government”). At that time, the main concern was standardization of records:

Providing diagnostic value for SNP screens or genome sequences will take a massive effort at standardizing information about joint gene-phenotype associations. Direct-to-consumer gene testing companies presently differentiate themselves based on the different information they provide to their customers. That approach works as long as there is little of value in the results -- the companies today are succeeding or failing on the basis of the communities of customers they are building, with the stories of customers providing the best advertisements. That's the nutrition supplement market.
But that approach will start to fail if genetic tests start to allow serious risk mitigation in health maintenance. If two companies provide divergent information to customers, in a way that impacts the customers' interactions with their physicians, I expect that the outcome will be some massive lawsuits and further federal regulation. If the government becomes the health care purchaser -- and with Medicare it already is the largest -- we can expect to see early federal intervention in this market, focused upon standardizing genetic information provided to physicians.

The creation of an NIH registry may reflect growing surveillance of the different interpretive results from these tests, with an eye toward future government purchasing protocols.

The new registry announcement is discussed in more detail by Dan Vorhaus at Genomics Law Report: “Evaluating the NIHs New Genetic Testing Registry. “ He gives some background relating to the 2008 report U.S. System of Oversight of Genetic Testing (PDF), commissioned by the Secretarys Advisory Committee on Genetics, Health, and Society (SACGHS) during the Bush Administration. As Vorhaus points out:

Although the SACGHS report acknowledged that short-term voluntary approaches to test registration might be appropriate, it also clearly indicated that the fundamental objective was the creation of a permanent and mandatory test registry.
This important distinction has not been lost on others. In a press release celebrating the GTR, the advocacy group Genetic Alliance (whose founder, Sharon Terry, has been one of the most outspoken advocates for a mandatory registry, including making the case several months ago in this very space) applauded the NIHs announcement while simultaneously looking forward to the registry becoming mandatory so that we are all apprised of the quality and availability of genetic testing across the nation. (links in original)

Probably the most important element is the involvement (for now, at the level of consultation) of Medicare. Companies that want a piece of that market will be more or less compelled to join the registry:

Depending on the degree to which purchasers of genetic tests come to rely on the GTR, inclusion in the GTR may well become a de facto requirement for any commercial genetic test provider, even if it is not converted into a legal requirement.

In the place of “purchasers” read “Medicare”. And of course insurance companies have similar incentives to require tests that participate in the registry.

(via Collective Imagination blog, and Genetic Future)