By Turna Ray
Laboratory groups, genetics industry professionals, and diagnostic testing firms have expressed concern about the time and resources required to list information about their genetic tests in a public registry under development by the National Institutes of Health.
NIH, meantime, has extended the comment period for the registry through Dec. 23 in an effort to gather additional feedback.
NIH last year announced its intention to develop a voluntary genetic testing registry, recognizing that while there are laboratory-developed tests for thousands of genetic conditions, there is no centralized database that healthcare providers, members of the public, and researchers can access to learn about these products. The Genetic Testing Registry is slated for launch next year. It will be housed at the National Library of Medicine, and will be implemented by the National Center for Biotechnology Information (PGx Reporter 6/2/2010).
Earlier this year, NIH asked diagnostic developers and "affected agencies" to assess whether its proposal to collect information on genetic tests is necessary and will add value; if the agency has accurately estimated the resources and time sponsors will need in order to submit information to the registry; how the quality, usefulness, and clarity of the data being requested can be enhanced; and how the burden on data submitters can be reduced via the use of automated techniques (PGx Reporter 8/3/2011).
NIH originally published its request for comment in the Federal Register in July, allowing public comments for 60 days. After receiving 12 comments on the GTR, the NIH has now extended the comment period for another 30 days hoping to receive additional input.
The NIH previously estimated that it would take each respondent 36.6 hours per year to populate 31 "minimal fields" for an average of 12 tests. The annual cost to labs and test makers submitting information for a dozen tests per year will be $139.38 to fill in just the minimal information, $696.92 to fill in the optional fields, and $836.30 for filling in all the data points, the NIH gauged.
However, the labs, professional groups, and researchers that have so far responded to NIH's request for input on the GTR believe that the institute is underestimating the time and resources labs and test firms will need to commit to listing their tests in the registry.
The American Clinical Laboratory Association provided the example of a cystic fibrosis test to note that there can be different claims processing codes for different test indications. As such, a lab may need to submit separate entries based on the mutations, deletions, and duplications assessed by the cystic fibrosis test and whether it was used for fetal testing or sequencing analysis of a familial mutation.
If the GTR requires each of these tests to be separate entries, then "this is more likely an estimate of 12 hours for this one submission," ACLA said.
Additionally, ACLA said that the cost for each submission will also amount to more than NIH's estimates. "The cost estimate based on a laboratory technician salary is also underestimated for many ACLA member laboratories," the association wrote. "Many of the data submission fields require the submission of complex data that will require the expertise of a genetic counselor or a laboratory director rather than a laboratory technician."
Gaithersburg, Md.-based molecular diagnostics laboratory GeneDx has 474 tests currently listed in GeneTests.org, the genetic testing database currently run by NCBI. If the lab were to list all of these tests in GTR, inputting data only in the minimal fields designated by NIH, it will take a genetic counselor 237 hours to populate the registry with that data, GeneDx said. Since the average hourly wage for a genetic counselor is $38, the company estimated that it would cost $9,000 to submit information on these tests to the GTR.
"If my laboratory includes the optional fields for all of the 474 tests, the burden is 1,422 hours … at a cost of $54,000," GeneDx added in its comments to NIH. The lab feels that other labs with smaller test menus would have an unfair competitive advantage.
To reduce the burden on labs and diagnostic firms, many stakeholders suggested that NIH cut back the number of data fields that are minimally required per submission. Expressing concern that some of the information requested by the NIH may not be understood by the public, ACLA suggested that the agency do away with fields requesting information on test methodology, how the lab deals with variants of unknown significance, test performance, and test analytical validity.
Many stakeholders indicated that some fields, such as the disease indication and markers gauged by tests, should be automatically populated for common diseases and markers. Since the Centers for Medicare and Medicaid Services certifies clinical labs, some of the data requested by GTR could come from databases housed at the agency. For information about clinical validity of tests, the most popular recommendation was for NIH to include links to an independent, central resource that can provide such data.
The Clinical Pharmacogenetics Implementation Consortium of the NIH's Pharmacogenomics Research Network has expressed interest in collaborating with the GTR to provide this kind of information. CPIC evaluates the available evidence for specific pharmacogenetically targeted drugs and publishes clinical practice guidelines on PGx testing.
"CPIC practice guidelines are authored by experts, follow a standard format, [are] peer reviewed [and] evidence-based with standard scales for grading evidence and for grading drug dosing recommendations, freely available, and updated." As such, "they represent state-of-the-art 'gene reviews' guidelines for pharmacogenes," Mary Relling of St. Jude Children's Research Hospital wrote on behalf of CPIC. "We suggest that the appropriate CPIC guidelines be linked from the relevant pharmacogenetic test pages of the GTR."
Some commentators noted the need for safeguards to ensure that labs and testmakers were submitting accurate information to the registry. The American Society for Clinical Pathology encouraged NIH to instate a review process and oversight for each submission to the registry. "In doing so, health care providers and patients can avoid being misled by the idea that each genetic test entered in the database is clinically valid just because it is an NIH-mandated database," ASCP wrote.
Meanwhile, others felt that developing a new genetic testing registry is unnecessary. Instead of transferring data about tests from GeneTests.org to GTR as proposed by the NIH, Signature Genomics Laboratories recommended that GeneTests.org be enhanced to include additional data points.
"As current users of GeneTests, we feel their system is very well developed and provides useful clinical information to its intended audience without bias," Signature Genomics wrote. "We feel that much of the supplementary information asked by the GTR introduces commercial bias and may create the potential for inappropriate competitive advantages. We recommend simply using the current GeneTests model and broadening the data fields."
Signature Genomics supports adding the following fields to GeneTests.org: test type/methodology used; proficiency testing details; the ability to add large panels and whole genome testing; and some test-specific details such as the number of mutations tested; turnaround time; year or date testing was first implemented; and annual test volume. "This would maximize clinical benefit while maintaining an unbiased system," the lab said.
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