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Bio-Reference Brings Back GeneTests as 'Simpler' Alternative to NIH's Genetic Testing Registry

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With this week's relaunch of the GeneTests website, formerly operated by the National Institutes of Health, Bio-Reference Laboratories chose to maintain very basic information about genetic tests, instead of asking for data that labs may not want to submit.

"GeneTests is very, very simple," said Amar Kamath, VP of marketing at Bio-Reference. "What people like is the simplicity of it."

As part of a license agreement with the University of Washington, GeneTests.org is now a business unit of Bio-Reference, which claims to be the fourth largest full-service lab in the US. The lab relaunched GeneTests this week with an updated look and retooled search functions.

The site remains free for users as the previous repository was. Funds to maintain and update the site will come from Bio-Reference, although the company wouldn't say how much money was set aside for this task.

Developed by UW and previously run by the NIH, GeneTests has since 1992 been the main source of information about genetic testing for inherited conditions. The site drew 22,000 visitors during each business day. However, with the launch of the Genetic Testing Registry – envisioned to be a more detailed database of information about genetic tests and conditions – the NIH officially phased out GeneTests in June.

Kamath claims that many labs and clinics didn't want the popular GeneTests site to go away. "NIH wanted everyone to use GTR," he said. "But GTR didn't have data the way it was curated in GeneTests, and all the users wanted GeneTests. Therefore, we decided to do it."

GTR, which the NIH began developing in 2010, is the institute's attempt at creating a single-source, more complete repository of genetic tests. The original GeneTests site focused on tests for Mendelian disorders. GTR includes these types of tests, as well as pharmacogenomic tests and research tests. The NIH plans to list diagnostics that gauge somatic mutations by year end. At this point, visitors to the site can look up labs offering whole-genome and -exome sequencing tests, and NIH is garnering input from labs as to the best way to represent test-specific information for these more complex diagnostics.

The new GeneTests site launched by Bio-Reference lists the tests and labs that were included in the original database. When users search for a particular gene, gene panel, or disorder, the results show labs offering such testing with links to any relevant information contained in the NIH-run GeneReviews, a database of peer-reviewed articles describing inherited diseases. However, there is no option to search for tests by brand name, which GTR allows.

GeneTests includes a directory of more than 600 labs worldwide that offer molecular genetic testing, biochemical genetic testing, and cytogenetic testing for more than 3,000 inherited diseases. Additionally, the database lists 1,000 international genetics clinics that provide diagnosis and counseling services for inherited conditions.

The site currently doesn't list research labs, but plans to in the future. Bio-Reference is also planning to add new features to the site over time to make it more user friendly for labs and clinics to enter information to the registry.

The main difference between GeneTests and GTR is that the latter seeks to include more information on each listed test, such as data on analytical and clinical validity. During the migration of test data from the original GeneTests to GTR, in order for labs to remain listed on GTR, they had to input additional information on their tests than was available in the older database (PGx Reporter 12/5/2012).

As part of the GTR registration process, labs are required to provide some "minimal" information, such as data on the analytical validity of the diagnostic. There is also information that NCBI "strongly recommends" labs provide on their tests, such as data on clinical validity and links to clinical utility studies.

During the development of the registry, however, many labs initially balked at the request for more data, criticizing the process as overly burdensome, particularly for labs with a long menu of tests. Additionally, labs didn't feel at ease submitting certain types of data to a public registry, such as test pricing and clinical utility data (PGx Reporter 10/20/2010). Currently, GTR doesn't request test pricing information and submitting information about clinical validity is optional.

Despite Bio-Reference's view that labs don't like the more detailed registry, GTR's growth in the last six months suggests otherwise. Back in December, Wendy Rubinstein, director of GTR, told PGx Reporter that 20 percent of the labs offering clinical tests listed in GeneTests had registered with GTR. This week, according to Rubinstein, that number is now at 80 percent and the registry lists 10,000 tests in total.

"All of the major labs have registered," she said. "We think participation is very high." While labs must register with the site and actively participate to keep the information in GTR updated, Rubinstein noted that NIH still includes all the tests previously in GeneTests and gives labs lead time to update listings that may be outdated.

Keeping it simple

Kamath believes GTR leaves a lot to be desired. "There are several problems with GTR," Kamath said. First, he noted, GTR ranks search results based on how much data labs have submitted on the tests they offer. "If the spreadsheet is not complete for every single test you submit, then they list you in the bottom."

So, in Kamath's view, although participating in GTR is voluntary, the NIH "penalizes" labs that don't submit the information the institute would like to see. Search results are "not based on true relevance for a search, but based on how complete the data [submission] is," he said.

In relaunching GeneTests, Bio-Reference said it aims to provide "easy access to comprehensive information on multi-gene tests," which are becoming increasingly important for diagnosing hereditary conditions. Bio-Reference is the parent company of GeneDx, which markets tests for inherited genetic diseases that run on multi-gene panels.

Users can search GeneTests by the disorder, a gene, or a gene panel. The website notes that the "panels" search feature "retrieves first the exact match for the selected term, followed in some instances by closely matching results."

In the view of NIH’s Rubinstein, GTR provides much more explicit information about the panels it lists than what is available through GeneTests. "If you [look up] what's called a panel in GeneTests … generally speaking, they don't really describe the test," Rubinstein said. "You have to pick up the phone and find it."

In a letter this week posted on the GeneTests website, Medical Director Roberta Pagon suggested that despite the availability of GTR, industry players weren't thrilled with NIH's decision to retire GeneTests. Pagon wrote that after NIH took down the old site, she was "approached by several private entities interested in assuring the continued role of the GeneTests Laboratory Directory." Pagon founded the first GeneTests site, initially called Helix, with NIH funding.

"Bio-Reference and I are now working together to develop a new model for the GeneTests Laboratory Directory that will be self-sustaining and responsive to the needs of clinicians and laboratories," Pagon said in the letter.

The fact that Bio-Reference felt the need to revive GeneTests within months of its phase-out suggests that there might be some players in the lab industry that don't favor GTR. It is unclear how widespread any negative GTR sentiment is within the industry.

Public comments submitted during the development of GTR showed little consensus within players in the life sciences community with disparate interests – drug developers, labs, diagnostics firms, health regulators, and payors – regarding the goals for the new resource. Some felt the registry should be mandatory, others pushed to keep submissions voluntary, and still others wanted to see tests differentiated based on whether they were approved by the US Food and Drug Administration.

Given the uncertainties in the regulatory and reimbursement environment for molecular diagnostics, labs may not want to submit detailed data to a public registry. FDA commissioner Margaret Hamburg recently stated that the agency still planned to advance a risk-based regulatory framework for lab-developed tests (PGx Reporter 6/5/2013). Meanwhile, labs and test developers are continuing to struggle with the Centers for Medicare & Medicaid Services about reimbursement rates issued for new test codes.

The initial launch of the new GeneTests site is limited to tests included in the older repository, but the firm plans to eventually accept new submissions from labs. "If labs want us to take off a listing, we'll do that, too," Kamath said. "If they want us to list, we'll list. If they don't want us to list, we won't."

Each listing in GeneTests will include only the "absolutely fundamental" pieces of information about each test, he added, such as the disease addressed by the test, the gene gauged, and the test methodology. Additionally, the listing will include the name of the lab offering the test and contact information.

Although Bio-Reference plans to enhance GeneTests in the future, it doesn't plan on asking labs to submit the more controversial pieces of information on tests that GTR requests. "There is public data on whether a specific gene causes a disease or not," Kamath said. "There is also public data on whether the analytical method used to analyze that gene is valid or not. So, we don't need labs to submit that data to us."

As a provider of laboratory services, Bio-Reference believes it is up to the labs to publish data on the sensitivity, specificity, and clinical validity of their tests. With GeneTests, "we don't want to get into that part of it. We want to keep it very factual," Kamath said, adding that anyone wishing to look up information on a disease still has access to GeneReviews.

"So, if someone wants it, they can click on it," he noted. "But if people just want to see the test and the lab, they can see that directly. The simplicity of it is the key."

Users search for tests predominantly by the specific disorder. In this regard, Rubinstein claims that GTR includes information on more disorders than GeneTests does, provides more information on the genes themselves, and offers more direct links to patient-friendly information sources.

It remains to be seen, Rubinstein reflected, whether users searching for information on genetic tests and conditions will be satisfied with less. "How will the labs react once they understand that actually there is less information on the [GeneTests] website than there was before?" she posited.

For example, visitors to GeneTests can learn which labs test for a particular gene or disorder. However, test-specific contact information that used to be available through the original GeneTests isn't available through the new version, Rubinstein said.

'Hold us accountable'

Rubinstein also questioned what Bio-Reference's business model is and what the company hopes to gain with its investment. "GeneTests is now a commercial site," she said, pointing out that if visitors to GeneTests want more information than is available, they must call genetic counselors who work for the site.

"Questions about what people can't find will be answered by a phone bank of Bio-Reference employees," Rubinstein said. "The website promises to be neutral, but what about the phone bank? Are they going to be selling products and services?"

Given it is a major player in the lab industry, Bio-Reference will have to ensure that other labs don't perceive GeneTests as a platform to drive adoption of its own tests and services. In launching GeneTests, Bio-Reference's "motivation is primarily to maintain a valuable resource to the community,” Kamath said, noting that there is a “possibility that there may be a long-term opportunity to make this a self-sustaining business given the popularity and the size of the audience."

He added that Bio-Reference expects users and industry players to monitor how it operates GeneTests. "The proof is in the pudding and I ask you to monitor us and hold us accountable on our word that we will treat all labs equally and give all labs equal opportunity in terms of publishing their tests."

In relaunching GeneTests, Bio-Reference emphasized that the repository is separate from its GeneDx subsidiary and its other business units. "The GeneTests website will not show a preference to GeneDx," Bio-Reference said in a statement."GeneTests.org will remain an impartial resource for the most up-to-date genetic testing information from around the world," the company assured.

According to Kamath, GeneDx wanted Bio-Reference to list in GeneTests all the new tests that it had launched in the last year. "But we had to decline, because that would not be fair to all our other laboratory customers," he said. "So, we told them that they had to wait until we announced the new process to add new tests for all labs and submit the same way all labs would submit new tests. They were not happy, but the way we see it, it is not worth risking our hard-earned reputation. And that is not the way to earn our customers’ trust."

Bio-Reference isn't the only firm trying to build an alternative information source from GTR. Last year, healthcare information technology firm NextGxDx launched a free, online platform through which doctors can search for marketed genetic tests, compare tests between labs, order tests for patients, and receive results (PGx Reporter 10/17/2012).

"If there is a role for users to just have an alphabetical listing of laboratories with a little more search capability but not a lot of detail, then GeneTests may fit that bill," Rubinstein said. Or "maybe you want a streamlined way to order tests," through a service like NextGxDx. "It will be interesting to see how this will package up," she said.

According to Rubinstein, NIH hasn't noted any decline in GTR usage during the seven weeks that the older GeneTests site was off-line. As to whether Bio-Reference's version of GeneTests will lower participation in GTR, it is still really too early to say. "Our overriding goal [with GTR] is to have a centralized resource for detailed test information," she said. "So far, from what I see, I don't think that's going to be inhibited."

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