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PI Name:
Date: Click here to enter a date.
Project title or IRB #:
Appendix G - Genetic Testing
This form is required if proposed research includes genetic testing. The purpose of this form is to
facilitate a consent process in which:

The investigator clearly communicate what types of results may or may not be shared with
subjects;

The investigator communicates the rationale for disclosure or non-disclosure of different types of
test results;

Subjects communicate their preferences about the types of results they are willing to receive. .
The green boxes throughout this document contain sample consent form language provided by the IRB.
Section 1 – Will Results be Returned to Subjects
If no individual results will be returned, complete section 1 only
1.1. Will the results of any genetic analyses be returned to the subjects?
Yes
No
Provide rationale for not returning results
If no, read guidance text and sample consent form below. Appendix complete.

To the extent possible, subjects and families should be anonymized in any publications, especially
when research focuses on rare conditions which could allow subjects to identify themselves in
publically available, published results.

Consent form must, in lay language, clearly state that subjects will not receive any results, even if a
medically actionable mutation is discovered.
Sample consent language if not returning results to subjects:
NO results will be shared with you, even if a medically significant result should be discovered and even if the
testing reveals information that could be used by you to make healthcare or lifestyle choices that could prolong
your life or prevent or delay the development of a life threatening condition.
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1.2 Check the box indicating whether subjects will receive aggregate or individual results
Subjects will receive
aggregate results
Provide rationale for returning aggregate results
If subjects will receive aggregate results only, read guidance and sample
consent language below. Appendix complete.

Aggregate results must be presented in a way that does not allow subjects to infer their own
genotype.

Consent form must clearly state that aggregate results will be returned but subjects should not
expect to learn their own genotype.
Sample consent language when returning aggregate results:
Only results of a group of study participants will be returned to you. When reviewing the results for the entire
group of study subjects, you will not be able to identify yourself or any other study participant. Results for the
group may not provide results that are relevant to you as an individual. You will not receive individual information
even if a medically significant result should be discovered and even if the testing reveals information that could be
used by you to make healthcare or lifestyle changes that could prolong your life or prevent or delay the
development of a life-threatening condition.
Individual results will
be returned
Complete sections 2-4
Section 2 – Special Considerations when Returning Results to Subjects
Any individual genetic testing results returned to subjects must be confirmed in a lab certified under the
Clinical Laboratory Improvement Amendments (CLIA).
Please note that the IRB’s preferred method for disclosure of results is an in-person disclosure of results
by an appropriately credentialed genetics professional.
2.1 Results must be verified in CLIA laboratory. How will this be provided? Select either option A or B
below.
Option A
Relevant genetic results will be confirmed by a CLIA laboratory as part of the
study.
Sample consent language for results verified in CLIA laboratory:

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The research laboratory is a CLIA certified laboratory. This means that the results regarding *condition X* can be
shared with you and you may share these results with your physician to make medically relevant decisions if
applicable.
Option B
Subjects and/or health care providers will be informed of the nature of the finding
and then given contact information for a CLIA laboratory that can provide
confirmation of results. If subjects will have to pay for this clinical confirmation,
this should be explicitly stated.
Sample consent language - research laboratory:
Our laboratory is a research laboratory. This means that our studies are being performed to learn about genes
that cause *condition X*. If our laboratory should identify a genetic variation that impacts your medical care, we
will ask your physician to have the result verified in a Clinical Laboratory Improvement Amendments (CLIA)
certified Orphan Disease laboratory. We will provide information to the Orphan Disease laboratory to allow them
to complete the testing. This additional testing in a clinical CLIA laboratory will usually require a new sample and
be charged to your insurance as a clinical laboratory test.
2.2 Who will deliver results to subjects? Select option A, B or C below. Check all that apply.
Option A
A credentialed genetics health care provider will contact subjects (e.g. genetic
counselor or medical geneticist).
Provide contact information below
Name:
Credentials:
Phone Number:
Email Adddress
Address:
Company:
Address line 1:
Address line 2:
City, state zipcode:
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Option B
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An investigator on the study will contact subjects. This investigator must be listed
on the IRB application.
Provide investigator’s name and credentials below
Name:
Qualifications/credentials for disclosing genetic
test result to subjects:
Credentialed genetics health care provider
Other, explain:
Option C
A health care provider who is not formally part of the study (e.g. patient’s primary
provider who referred the patient to the study).
2.3. Will the individuals designated above disclose the results to subjects in person?
Yes
No. If an alternate method of disclosure (e.g. telephone, email, letter, or through their own provider), is proposed,
provide the rationale below. In your response explain how such means are appropriate for the nature and magnitude
of results being disclosed.
2.4. When will results be returned?
The consent form must indicate approximately when subjects may expect to receive results. The
consent form must also specify when subjects may no longer expect communication regardless of
whether analysis by the researcher is ongoing and/or whether there are advances in technology or
interpretation of results.
Section 3 - Types of Results that will be Returned to Subjects
The investigator has the discretion to choose the types of results that will be disclosed and subjects will
be given the choice to “opt-in” or “opt-out” of receiving any types of results that the investigator is
willing to disclose.
3.1. Will the primary target be disclosed?
The primary target of the analysis is the specific genetic change(s) that are believed to cause the
disease/phenotype that is the subject of the study.
Yes
If the primary target is the only result disclosed, the consent form should state that analysis
of genetic data will be focused on the cause of the condition being studied and . genetic
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variants that cause other types of diseases will not be reported
Sample consent language – primary target only:
What results may be expected from this study:
The analysis of genetic data will be focused on the cause of *condition X*. Only genetic results regarding this
target condition will be reported. No other results that are related to other diseases or conditions will be
reported, even if that genetic variant can be associated with cancer, neurologic disease or another condition.
No
Provide rationale or justification for not providing these results
3.2. Will secondary targets be disclosed?
Secondary targets are genetic variants that do not cause the primary phenotype under investigation, but
have been clearly documented to have other medical significance. Such variants are likely to be
encountered in large-scale genetic studies (e.g. whole exome or whole genome sequencing). See the
American College of Medical Genetics (ACMG) list of potentially important secondary targets.
Select option A, option B or option C below
Option A
Secondary targets will be disclosed within the limits of the methodology used in this
study, any secondary finding identified In the ACMG statement will be reported.
Consent form should clearly state any technical limitations in analyzing these genes and subjects who
have a medical or family history reason to pursue testing for these genes should be encouraged to seek
testing through clinical avenues.
Option B
Secondary targets that are medically actionable, medically important or reproductively
significant variants beyond ACMG recommended minimum list will be reported.
Identify the secondary targets that will be reported and provide rationale or
justification for inclusion of variants beyond ACMG recommended list.
Sample consent language – medically actionable results:
Unexpected Results
The goal of this research is to identify genes that cause *condition X*. However, our current DNA testing
technologies will be able to detect other conditions. In some situations, DNA testing may reveal a risk for
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unanticipated secondary conditions such as cancer, heart disease, neurologic disease or other conditions.
By checking this box, I request that I NOT be informed of any results of this study as they pertain to me (or my
child, if you are a parent/guardian signing for a child) that could indicate a risk for other medical conditions.
Option C
Secondary targets will NOT be disclosed
Provide rationale or justification for not disclosing this information to subjects if it is
identified through the study procedures:
3.3 Will variants of uncertain clinical significance be disclosed?
The following definition should be applied: Genetic variations that cannot clearly be classified as
“disease-causing” or “benign” (alternatively, variants with very modest effects on common disease
phenotypes).
Yes
Variants of uncertain clinical significance will be disclosed.
Provide rationale or justification for providing this information
Sample consent language –returning variants of uncertain clinical significance:
The investigators may disclose results to you that may or may not have clinical significance at this time. However,
these genetic variants may have significance in the future that are not anticipated at this time.
No
Variants of uncertain clinical significance will be NOT disclosed.
Provide rationale or justification for NOT providing this information
3.4. Confirmed that incidental findings will not be disclosed or define the circumstances under which
such finding would be disclosed.
Incidental findings are unintended findings generated by the analysis of genetic data, such as evidence of
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non-paternity or incest. It is the strong preference of the IRB that such findings NOT be disclosed to
subjects unless there is a compelling medical reason to do so. Subjects should be aware that even
though incidental findings are not formally reported, it is possible in some situations to infer this
information from genetic testing.
The PI confirms that incidental findings will NOT be disclosed as part of this research study.
If an incidental finding arises where there is a medically important reason to disclose the finding,
the investigator may seek permission to disclose on a case-by-case basis.
The consent form should clearly state that sometimes genetic testing may reveal unexpected
information about biological relationships. While the investigators will not formally report this
information to subjects, it is possible that subjects may be able to infer this type of information from the
other results disclosed in the study.
Sample consent language – incidental findings not disclosed:
The testing in some cases may reveal information not anticipated. For some DNA testing this includes information
about paternity or blood relationship between the people being tested.
The DNA test may reveal private information about blood relationships.
Incidental findings WILL be disclosed under defined circumstances
Specify the circumstances under which incidental findings will be disclosed and provide
compelling medical rationale for disclosing this information to subjects.
Sample consent language – incidental findings disclosed:
By initialing this box, I do NOT want to be informed should the investigator identify private information about
blood relationships.
3.5 Will the researcher provide, or provide access to, complete datasets?
Whole exome and whole genome methods generate a comprehensive list of genetic variation, most of
which is either normal or of uncertain clinical consequence. Currently, most laboratories only report a
small subset of variation that has been validated for technical accuracy and for which meaningful clinical
interpretation can be provided. Some investigators may wish to provide subjects with a comprehensive
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listing of all genetic variation identified in the study (complete dataset). If the investigators wish to
disclose a complete dataset to subjects, the following should be considered:
1. Complete datasets must be reported through a CLIA certified laboratory.
2. Investigators should describe how the list of variants is curated for technical accuracy (e.g. it is
not appropriate to release a raw dataset directly to subjects without curating the dataset for
technical artifacts etc.)
3. Investigators should describe what clinical interpretation (if any) will be provided with the
dataset. If subjects will be directed to web based resources, such resources should be provided to
the IRB for review. If subjects will be expected to pay for any interpretive resources, this should
be explicitly stated in the consent.
4. Investigators should provide a detailed plan of how complete datasets will be disclosed, how
subject understanding will be assessed, and how outcomes of disclosure (both positive and
negative) will be assessed.
No
Subjects will not be offered the choice of receiving their complete dataset of genetic
variation.
Yes
A complete dataset may be given upon request by the subject and if the subject assumes all
future costs associated with interpretation, counseling, and subscription to any web-based
genomic resources.
Sample consent language - disclosure of complete dataset:
You will receive a complete dataset of your genomic data completed by the investigators of this study. You will
assume all future costs associated with interpretation, medical costs associated with evaluation and treatment for
conditions beyond the scope of this study, genetic and emotional counseling and use of any web-based tools to
analyze your genomic data.
Section 4 - Future Use or Analysis of Testing Results
4.1 Do you plan to conduct further analysis of the significance of genotypes in the future?
Yes
The researcher plans to conduct further analysis of the significance of the genotype in the
future.
Note that, If the understanding of a particular genotype changes in the future, the
investigator may choose to disclose new information, but is not obligated to do so.
Sample consent language -Risks and information about banking for future DNA test research
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When the testing is completed, the DNA sample and its associated genomic data will be retained by our
laboratory. Please check the appropriate box below regarding whether or not we may keep your DNA.
You may keep my DNA sample and its associated genomic data.
You may not keep my DNA sample and its associated genomic data. Please destroy it upon completion of
testing.
In some cases additional tests of value to you or to a family member can be performed on the saved DNA. We
need to know if this is OK with you. Please initial your preference:
Under no circumstances use my DNA and its associated data again. Please destroy the samples upon completion
of testing.
Contact me and explain the new study that will involve my DNA and its associated data.
Use my DNA and its associated data as desired as long as all identifying information is removed from the
sample.
Use my DNA and its associated data as desired as long as the test directly relates to testing in my family.
No
The researcher does not plan to conduct further analysis of the significance of the genotype
in the future.
Results will be interpreted according to the body of knowledge at the time of consent and
will not be re-analyzed in the future.
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