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Appendix N
COLLECTION OF GENETIC SPECIMENS AND GENETIC TESTING STUDIES
University of California, Irvine
Institutional Review Board
This appendix must be completed for studies that involve the collection of specimens for genetic research
and/or testing. This includes any studies involving the study of the genetic mechanisms of human disease and
health. Genetic specimens include blood, saliva, solid tumors, and any other tissues or body fluids used for
genetic testing.
The IRB is responsible for reviewing genetic testing to protect the privacy of subjects by ensuring that
appropriate mechanisms are in place to assure the confidentiality of the specimens and testing results. Some
testing results could have the potential to define genetic traits or mechanisms belonging to an individual or
population that have the potential to cause harm to study subjects.
Note: If your study involves storage of genetic specimens (including specimens that are sent to a repository),
Appendix M is also required.
1. Specify the type of specimens collected:
2. Specify the type of genetic testing to be performed (check all that apply):
Somatic or Non-Diagnostic Genetics
DNA sequence data will be generated that is not clearly diagnostic (i.e., it provides no additional clinical
information about the subject) and will not be relevant to the subject’s future health or other family members
beyond study participation.
Examples include: sequencing subject tumor DNA to detect acquired mutations or detection of germ line
DNA polymorphisms of undefined clinical significance.
Gene Expression, Biochemical or Qualitative
No direct DNA sequence data will be generated. Data is only relevant to the patient’s currently diagnosed
state of health. Examples include immunohistochemical analysis (staining tissues to detect proteins), serum
biomarker studies, and gene expression analysis.
Pharmacogenetic
Data relates a specific genotype to a drug response to determine who may obtain the greatest potential
benefit from a particular drug and those individuals who may be at the greatest risk of side effects from a
particular drug.
Germ Line Genetics of Complex Disease
A complex disease is defined by multiple inherited (genetic) and environmental risk factors, none of which
on their own are either necessary or sufficient to cause disease.
Examples include: DNA sequencing of a defined locus that may have a suspected (but unproven)
involvement in predisposing the subject to a defined phenotype.
Germ Line or Diagnostic Genetics of Mendelian Disorders
A Mendelian disorder is defined by the presence of one or two disease alleles at a single locus, signifying
that the subject and/or family members will develop the disorder. DNA sequence or other genetic data will
be generated that could be directly relevant to the subject’s future health and/or the subject’s family.
Examples include: DNA sequencing to predict relative risk of disease or to identify heritable traits.
3. Indicate the type of subject identifiers that will be attached to the data/specimens:
Specimens will be stripped of all direct and indirect identifiers and cannot be linked to the subjects
(anonymous specimens).
Specimens will be linked to the subjects with direct identifiers.
Specimens will be linked to the subjects with indirect identifiers (coded specimens)
4. Will a CLIA approved lab be used to process/analyze the specimens?
Note: if a CLIA approved lab is not being used the test results cannot be used for medical treatment. See
http://www.cms.hhs.gov/clia/ for more information about CLIA
Yes
No
5. Will pedigree analysis and/or family linkage studies be performed?
Note: subjects must be informed that the study may determine that some members of their family are not
genetic relatives and that other family members may learn private genetic information about them (as
applicable to the study). Strict confidentiality must be maintained for each individual subject.
Yes
No
6. Will subjects be informed of the results of genetic testing?
Yes – Subjects will be notified of their testing results
No - Subjects will not be notified of their testing results
7. Will the results of genetic testing become a part of the subjects’ medical record?
Yes –Genetic testing information will become part of the subjects’ medical record.
No – Genetic testing information will not become part of the subjects’ medical record.