Cancer Genetics Clinical Trial
Official title:
Exploratory Data Analysis for Disease Pedigrees and Cancer Genetics
The researchers have developed and distributed several software packages for pedigree
analysis (FAST, CASPAR, PedHunter, IIC) and cancer genetics (oncotree, METREX). Users who
need assistance with the software or who want to see new features added often send the
researchers data files that include human data. The information is normally coded, and the
researchers do not have access to the identification of the people whose information is in
the files. Sometimes the content of the files gives rise to collaborations between the
software developers and the providers of the files. Because concerns over the confidentiality
of medical information have increased significantly over the past few years, the researchers
must apply for exemptions from detailed ethics committee oversight for every data set they
receive. This process is cumbersome and makes it difficult to assist software users. The
amount of information required to apply for an exemption also poses a barrier to
collaborations.
A full protocol will subject all data sets to ethics committee oversight without the need for
individual exemption requests, enabling the researchers to assist users with software
problems and to collaborate with other researchers.
From January 1, 2000, through December 15, 2001, the researchers received 71 requests for
assistance, 19 of which included data files. None of the data files had any names or patient
identifiers. Of these 19, in 8 cases the researchers sent back modified output files. In two
of these eight cases, the researchers could see results of research interest; one of them
concerned human data. In 2 of the 19 cases, the researchers sent back modified input files;
in one such case, they established a collaboration with the originator of the files. In sum,
most requests come under the heading of customer service, with no research contents. A few,
however, do lead to research results or collaborations, for which ethics committee oversight
is required.
Over the three-year time frame of this protocol, the researchers anticipate receiving data on
a maximum of 10,000 individuals. They have modified their software documentation to
explicitly instruct users to make sure the data files they send have no names. Should they
receive files with names, they will delete the files and ask the originator to resubmit them
with names encoded. Users submit data through unencrypted e-mail. The data are stored in
password-protected computers at the National Institutes of Health.
We have developed software packages for pedigree analysis (FAST, CASPAR, PedHunter, IIC) and
cancer genetics (oncotrees, METREX). The purpose of this protocol is to allow us to work on
software problems reports that may contain human subjects data in them. The data should be
coded, by which we mean that if there are any links between identifiers and names, we do not
possess the links to decode the names. Occasionally our assistance leads to a more formal
research collaboration. This protocol seeks to clarify the guidelines under which we can
provide assistance to users of our human genetics software and to establish a formal
procedure under which we can seek IRB approval for the serendipitous collaborations that
arise from providing that assistance. We cannot predict the sizes of samples or the diseases
studied in the data sets sent to us, so most of the medical aspects of this protocol are
necessarily general. We rely on the data being coded and the collectors of the data having
their own institutional approvals to protect against most risks. The scientific aspects of
investigating problem reports cannot be hypothesis driven because we cannot guess what
problems will arise. On the engineering side, the basic hypotheses are that: 1) our software
is likely to contain some bugs or other weaknesses, which cannot be easily found except by
having others use the software and 2) a good way to improve the functionality of the software
is to encourage users to submit problem reports and other suggestions.
This protocol has been in effect since early 2002. The only amendments during that time were
to set up three collaborations, as described in Sections 4.6 and 4.7 and 4.8. The protocol
has been quite useful and no changes are proposed in procedures.
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