Download full-text PDF

Beast of Burden? Comments on the NIH Genetic Testing Registry

Article · March 2012with33 Reads
DOI: 10.1089/gtmb.2012.1529 · Source: PubMed
Beast of Burden? Comments on the NIH
Genetic Testing Registry
William Albuquerque, Elizabeth J. Horn, and Sharon F. Terry
The Genetic Testing Registry (GTR) is a voluntary
registry of genetic tests initiated and created by the Na-
tional Institutes of Health (NIH) (Field et al, 2011). Given the
proliferation of tests for many genetic conditions, the NIH
recognized that a centralized public database for information
about these tests was needed. NIH launched the GTR project
‘‘to advance public health and research in the genetic basis of
health and disease’’ (NIH, 2011). The key objectives are to
enhance transparency, provide an informative resource for
the public, and facilitate data-sharing. The NIH has actively
engaged stakeholders throughout the process, some of whom
have expressed concerns about the registry—particularly how
to convey exactly what the information provided represents.
After approximately a year of work on the GTR, where does it
Request for Comments
To solicit feedback on the developing GTR, the NIH posted
a Request for Comments on July 27, 2011. The NIH estimated
the burden for submitting tests to the GTR, where the sub-
mission form has 31 minimal fields and 85 optional fields. The
NIH projected the annual burden to be 6.1 hours to complete
all minimal fields and 36.6 hours for all fields, with a projected
average of 12.2 tests per respondent. Submitters unfamiliar
with the optional information may need more time to com-
plete the form, and a bulk upload feature could be used to
decrease the time burden. The NIH also proposed a mean
annual cost of $836.30 per respondent, using national wage
statistics to calculate the cost of laboratory technicians enter-
ing the data (NIH, 2011).
As part of the effort to enhance the GTR, the NIH asked for
feedback on the following: (1) Whether the proposed collec-
tion of information is necessary and has practical utility; (2)
whether the agency’s estimate of the burden of the proposed
collection of information is accurate; (3) whether there are
ways to enhance the quality, utility, and clarity of the infor-
mation to be collected; and (4) whether there are ways to
minimize the burden of the collection of information on those
who are to respond (NIH, 2011).
The responses to the Request for Comments came from 12
individuals or groups representing a range of stakeholders,
including clinicians, testing laboratories, and health advocacy
organizations. This is a very low number of respondents, gi-
ven the tens of thousands of clinicians, testing laboratories,
and advocacy organizations in the United States, and the
comments received may not represent all concerns of patients,
clinicians, and laboratories. Nearly all respondents believed
the GTR (or at least the concept) was generally a positive and
necessary initiative, and many of the responses constructively
focused on areas for improvement or concern. Many noted
that the GTR would be a useful tool for a variety of stake-
holders that could increase transparency. Furthermore, many
respondents supported the bulk upload feature, although
some requested more information on how this would be
An area of concern raised by nearly every respondent was
the NIH’s calculation of burden. Most respondents felt that
the statistics provided in the Request for Comments under-
estimated the costs, both financially and the number of hours
required for submitting entries to the GTR. Some noted that
the number of tests was underestimated because many
labs offer multiple tests for the same condition. As a com-
parison, entries in GeneTests (
GeneTests/), the registry the NIH uses to determine the
number of tests, are indexed by condition only. Additionally,
others suggested that next-generation sequencing methods
could greatly increase the number of available tests. Increas-
ing the number of submitted tests would probably raise the
estimated financial burden.
Many respondents also suggested that the pay rate used by
the NIH was underestimated. Although the Request for
Comments used national wage statistics for laboratory tech-
nicians, many argued that submitters will be required to have a
greater knowledge of the tests—mostly likely a genetic coun-
selor or laboratory director. These employees will have sig-
nificantly higher wages, and this could also increase the cost of
submission. Some respondents suggested that the actual bur-
den expected by submitting groups would be insurmountable.
In addition to costs of submission, many respondents were
also concerned about the lack of oversight in data submission
and about the possibility that the GTR would misrepresent
the validity and utility of tests. Without proper oversight,
some anticipated that testing companies might abuse the
registry as a marketing tool. To prevent this, respondents
proposed a regulatory body to review each entry or suggested
Genetic Alliance, Washington, District of Columbia.
Volume 16, Number 3, 2012
ªMary Ann Liebert, Inc.
Pp. 155–156
DOI: 10.1089/gtmb.2012.1529
that each test submission should require associated peer-
reviewed literature. Respondents also suggested that in-
formation provided through the GTR be acknowledged as
generalized in order to address potential misrepresentation of
the submitted tests. Although information about utility and
validity is important, respondents explained that both ele-
ments are fundamentally linked to the particular context of an
individual patient.
Future Directions
The responses indicate that the GTR has promise and po-
tential to help clinicians and patients and that possibly more
refinement may be necessary. Because of the overwhelming
concern about the true burden of submitting entries, perhaps
a beta launch with a "coalition of the willing" might be useful
in gathering the true burden of data submission. This could
establish a baseline of cost for small and large labs, for both
esoteric testing as well as reference labs. Then burden can be
realistically assessed and decisions made about making the
process more expedient, if necessary. Finally, the balance
between crowd-sourcing the entries with ever-increasing
quality—such as a wiki-style resource—versus a labor-
intensive oversight process is important. Perhaps the com-
munity will police the resource, although that did not happen
with GeneTests, which takes all comers, and the listings do
not seem to be challenged. Increasing intelligent linking to the
resource will help, allowing peer-reviewed literature and
other databases to validate or invalidate entries. From the
public’s perspective, transparency of the data afforded by the
GTR is a welcome addition to the laboratory testing arena,
allowing the beginnings of a more open and dynamic eco-
system of genetic testing.
National Institutes of Health. Office of Biotechnology Activities.
(2011) Request for Comments Under the Paperwork Reduction
Act, Section 3506.
comments.html, accessed January 25, 2012.
Field A, Krokosky A, Terry SF. (2011) Answering the hard
questions: the Genetic Testing Registry and its request for
information. Genet Test Mol Biomarkers. 15:1–2.
Address correspondence to:
Sharon F. Terry, M.A.
President & CEO
Genetic Alliance
4301 Connecticut Avenue, NW
Suite 404
Washington, DC 20008
April 2012 · Genetic Testing and Molecular Biomarkers · Impact Factor: 1.46
    June 2012 · Genetic Testing and Molecular Biomarkers · Impact Factor: 1.46
      January 2012 · Genetic Testing and Molecular Biomarkers · Impact Factor: 1.46
        February 2012 · Genetic Testing and Molecular Biomarkers · Impact Factor: 1.46
          Discover more