Download Research Involving Genetic Testing

Institutional
Review Board
Informed Consent Checklist:
Research Involving Genetic Testing
Date of Review:
Principal Investigator:
Title of Study or Project:
Comments:
A genetic test is an analysis of human DNA, RNA, chromosomes, proteins, or metabolites
that detect genotypes, mutations, or chromosomal changes. When any of these tests will
be performed, the informed consent must make it clear that genetic research is involved.
IRB Members: Reference this checklist as a guide to assure that all required elements of informed
consent are included.
Investigators: Use this checklist as guidance for research involving genetic research. Do not submit
this checklist with the application.
Valid informed consent includes the Basic and Additional Elements. Assure a valid consent document
by:
1. Using a Nemours PPF/ICF template from IRBNet.
2. Include adequate information about genetic research by following the guidelines below.
3. Use the example statements provided below. These are only examples. The actual language
should be revised according to the specific protocol.
4. Use the Glossary of Genetic terminology: http://www.genome.gov/Glossary/index.cfm?id=70.
This glossary can be used to explain complex terms.
Note: the informed consent document is one part of a complete application. Make sure that the
consent and protocol and application forms are consistent.
1.
Purpose of the Study
Include a clear statement that genetic research is an aim of the study.
Example:
This clinical research study is being done to see if your child’s gene make-up (DNA is made up
of genes) affects the way your child responds to a particular asthma medication. We know that
certain genes make you tall or short. Certain genes give you brown or black hair. Certain
genes may be associated with the way your child responds to asthma medications. We want to
find out if people with certain genes respond in different ways to the study medication.
2.
Study Procedures
The ICF/PPF should describe:
 What the participant must do (genetic history? extra blood samples? Biopsies?
Sputum collection? Buccal swab?)
 The specific genetic tests that will be performed, if known. Do not include technical
information about laboratory analysis or assays.
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
Whether there is a potential for future use of specimens.
Example:
Specific use:
Samples will be stored and used for future research about asthma.
Unspecified use:
Samples will be stored and used for future research.
The blood samples obtained in this study will be analyzed Only for genes of diseases related to
asthma. Samples will not be used for research about other diseases. Your child’s DNA samples
will not be sold.
3.
Risks.
Describe potential risks such as: discrimination, stigma, employability, insurability, mistaken
paternity. The examples below include statements about unknown future risks. These should
be used if applicable to the study, especially if specimen banking is planned.
Note that GINA regulation minimizes the risks related to employment and insurability. When
potential discrimination in employment or insurability based on genetic information is included
as a risk, the following statement is required:
“A Federal law, called the Genetic Information Nondiscrimination Act (GINA), reduces the risk
of discrimination by health insurance companies, group health plans, and most employers
based on your (child's) genetic information.”
The investigator should determine whether research results are clinically valuable. If results will
be provided, the investigator must justify that decision in the application.
The following criteria should be considered to determine if a genetic test will be used clinically
(allowing the child's Doctor to use best judgment for the care of the patient)
1. The test is not commercially available.
2. There is peer reviewed literature to backup technique and clinical value of the test.
3. The information provided by the test can contribute in a meaningful way to the care of
the patient.
If subjects will be given test results, precautions must be taken to minimize the potential harm
of receiving bad news and to preserve the confidentiality of the results. Precautions should be
taken when conveying results of genetic tests and depends upon the age of onset of the
disorder, the burden of illness, whether there are reproductive implications, and the availability
of treatment or prevention.
Examples:
There is a small chance that the results of the genetic (DNA) testing on your child’s sample
accidentally become known to you, your child, your doctor, or others. If known, there is a
chance that this genetic information could affect your child’s ability to get or keep health
insurance, life insurance or a job.
There is a risk of discrimination against persons who have certain medical conditions. We do
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not know what conditions this gene information might be associated with in the future.
Other risks of this study have to do with information you learn that may distress you. You may
learn that you child has a genetic disease, or that you are a carrier of a genetic disease. You
may learn that your future offspring are at risk for genetic disease.
Your sample might be used for purposes that we are not aware of now. We cannot predict
future research findings and new technologies. The risk of future research and technology is
unknown.
Sometimes genetic information suggesting different parentage is obtained during research. We
will / will not report such findings to participants, their family members or their physicians.
There is a chance that you might find out about a gene problem that can change the way your
child thinks about important decisions, like having children, being able to get a job or
insurance. Section 19 if this form describes how these things are protected.
4.
Benefit.
The consent should state whether or not participants will be provided or have access to the
results of their genetic testing.
In either the application or the protocol, the description of the consent process should indicate
whether or not investigators plan to return genetic test results to participants and should
provide a justification for either decision. In making this decision, the investigator should
consider whether these results will be useful clinically.
Genetic counseling with a trained genetics counselor, or justification of an alternative, is
required if the results indicate a heritable characteristic that could alter future health status,
affect non-tested siblings or parents, or be passed to subsequent generations.
There may be direct benefit if participants will be informed of genetic results.
When information will not be shared, the consent should state that there is no direct benefit
(related to the genetic testing.)
Examples:
Because of confidential coding of specimens, you will not be notified of individual results from
genetic (DNA) tests and no results will appear in your child’s medical records. The results of
this research might benefit other children in the future.
The genetic tests are for research only. You will not be informed of the results.
5.
Voluntariness
When the research includes participation in a substudy, the consent should clearly state
whether participation, or not, in the substudy affects participation in the main study. For
instance, an clinical trial for a new asthma drug includes an pharmacogenetics test that is not
related to the clinical trial.
Example:
You do not need to have this test to participate in the main study.
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6.
Potential to withdraw
The ability to withdrawal from the study depends on whether the sample is de-identified or
whether a link remains. If possible, a time frame for possible withdrawal of permission should
be provided.
Examples:
Identifying information will be removed from your samples before they are sent to the central
lab. You will not be able to withdraw your permission to use the samples once this happens.
Your sample will be coded before it leaves Nemours. The Nemours investigators will keep a
link to the code. If you decide to withdraw your permission to use the samples in the future,
contact the study doctor.
7.
Ownership
The concept of ‘ownership’ of human biological samples is open to debate and has been the
subject of court cases. There has not been a definitive answer to this issue.
A separate statement about ownership of samples is not required. The information is related to
voluntary participation and the ability of a participant to withdraw permission at some date.
The statement in the payment section about lack of plans for future compensation related to
discoveries will be adequate in most cases.
The use of exculpatory language (through which the subject is made to waive or appear to
waive any of the subject's legal rights, or releases or appears to release the investigator, the
sponsor, the institution, or its agents from liability for negligence) is forbidden by federal
regulations.
Investigators who are submitting samples to a repository, either at Nemours, or to a central
bank, should consider whether one of the following statements should be made. If used, the
statement could be included in the Cost section, or before the Signature page.
Examples:
The results of this genetic research might be valuable for finding and making new products, or
for scientific progress. If you decide to allow your child to participate in this genetic research,
you are giving your child’s sample to Nemours. Nemours retains sole ownership of the research
results, and of any use or development of the research records (including your child’s sample)
as described in this form.
Your child’s saliva sample will remain in the possession of [Names] the principal investigators
for the study coordinating site at [Place] and stored at [Name] laboratory for up to 10 years.
After 10 years, all links between your child and his/her medical records and the sample will be
broken permanently.
8.
Protection of confidentiality.
In the procedure or the confidentiality section, describe whether genetic material will be
identifiable, for how long and whether samples will be de-identified or coded. If the material
will be coded, the consent should state whether there is a link to identifiable information and
who would maintain the key or link to the coded material. (Coded information is not de-
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identified when one person controls both the code and the samples. For more information, read
OHRP Guidance on de-identification of coded samples and data.)
Investigators engaged in genetic research should consider obtaining a NIH Certificate of
Confidentiality.
The Confidentiality section of the Nemours template also applies to genetic samples. No
additional language is required.
9.
Optional tests and procedures:
When possible, participants should be given the choice to agree or disagree about each
proposed future use of their samples. However, the ability to provide an option depends on
the resources available to the research team, the proposed use, and ability to link identifying
data to samples once they are coded.
The principal investigator must have a system in place for assuring that the participant’s wishes
regarding the use, or non-use, of their specimens are honored. This applies to any future use
by the PI and collaborators at Nemours, and to material provided to external organization or
individual.
Both options (to agree or to disagree), not just an ‘opt-out’ must be given to the participant.
Passive consent (the assumption by the investigator that if someone doesn’t say ‘no’, that they
mean ‘yes’) is not allowed.
Place information about optional tests or future research in an Addendum after the Signature
page.
Samples:
Based on the results of future testing, it is possible that we may wish to contact you for future
studies. Please indicate whether or not you want to be re-contacted for future studies based
on genetic (DNA) analysis, by checking the box below:
___I do wish to be re-contacted for future studies.
___I do not wish to be re-contacted for future studies.
The research using the samples and information is ongoing. In the future, researchers may
wish to contact you for more information, to request another sample, to obtain consent when a
participant becomes 18, or to give you information about our findings.
Please check one:
again.
I permit researchers to contact me
or
I do not wish to be contacted
If you permit researchers to contact you again, please give your current contact information in
the space below and notify [Name] [Number] when your contact information changes.
Address ______________________
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Phone ______________________
______________________
Email ______________________
The researchers would like to store any left over tissue / specimens for possible future
research. Please check that you agree or disagree to the following uses of left-over samples:
Research related to [disease under study] ____ agree _____disagree
Research related to [organ system (lungs, heart) or disease (cancer)
Research for any purpose….
10. Assent
In studies with optional genetic research components, instead of offering children or adolescents the
same options that appear in the parental permission form, they should simply be informed that leftover
blood or tissue samples may be used for future research.
Example:
Your information or samples (left over blood or tissue) might be saved and used in future
research.)
11. When a participant who was enrolled as a child reaches adulthood
There is no requirement for obtaining informed consent at 18 when the research only applies to
existing samples or data. However, if an adult wishes to withdraw samples or data obtained
per prior parental permission, the investigator should honor that if possible.
When there is active participation informed consent must be obtained as soon as possible after
the birthday.
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