IRB Manual
      7.7 Research Involving Genetic Testing
Informed Consent Guidelines



Genetic research includes any research involving the analysis of DNA, RNA, chromosomes, proteins, or certain metabolites which might act as or identify markers associated with a known or suspected predisposition to disease or disability.   Much of the current research in this area has as its ultimate goals the identification of  DNA mutations that can cause specific health problems, the identification of these mutations in patients and their family members, and the improvement of the interventions available to help patients address these problems.

All studies and pilot studies which include tissue samples for genetic research and all amendments to studies including tissue sampling for genetic research must be supported by a detailed protocol describing how and where samples will be maintained and tracked, explaining the tests to be performed, and providing a rationale for the testing.    If samples are to be sent outside of the appropriate DMH/RFMH facility to collaborators or laboratories, the details of the collaboration should be specified.    If the collaborators will use the samples for their own research, the collaborators’ research should be described and a copy of the IRB approval from the collaborator’s institution should be provided to the IRB. 

It is recognized that some investigators may not currently know all the tests that they may wish to run in the future.  If this is the case, this should be noted; and as soon as new tests are known, an amendment should be submitted to the IRB specifying the tests and stating the rationale.  

The research consent form for the use of identifiable human tissue samples should contain a detailed explanation of how the samples and data will be maintained, how confidentiality will be protected, and who will have access to identifiable information about the samplesIn addition, the potential risks and benefits of participating in the genetic research should be fully explained.  In New York State a detailed informed consent is required for genetic testing pursuant to New York State Civil Rights Law Section 79-l.

Requirements of NYS Law on Genetic Testing

  1. Genetic test is defined in the law as “any laboratory test of human DNA, chromosomes, genes, or gene products to diagnose the presence of a genetic variation linked to a predisposition to a genetic disease or disability in the individual or individual’s offspring; such term shall also include DNA profile analysis”.

  2. Whenever a research protocol includes specific genetic testing of identified subjects, a specialized consent form meeting the requirements in #3 below must be obtained from subjects.  The elements required by the state law should be incorporated into a consent form that also contains the elements of informed consent required by the federal research regulations.  Where a study includes a genetic component and subjects can participate in the main study and decline to participate in the genetic portion, this fact should be made clear in the consent document.

  3. Requirements for written informed consent for a specific genetic test:
    1. A description of the test.
    2. A description of the test’s purpose.
    3. A statement that the individual may wish to obtain professional genetic counseling prior to signing the informed consent.
    4. A statement that a positive test is an indication that the person may be predisposed to or have the disease or condition tested for, although this may be modified by the IRB if the research does not permit this degree of specificity.
    5. A description of each disease or condition tested for, although this may be modified by the IRB if the research does not permit this degree of specificity.
    6. The level of certainty that a positive result serves as predictor, although again this may be modified by the IRB if the research does not permit this degree of specificity.
    7. The name of the person or categories of persons or organizations to whom the test results will be disclosed.
    8. A statement that only authorized tests will be performed on the sample and that the sample will be destroyed not more than 60 days hence, unless the consent document authorizes a longer period.  For research, with IRB approval and written consent, the sample may be kept for more than 60 days.  (See below)

  4. Use of Stored Genetic Samples for General Research Purposes

    Genetic samples may be used for tests other than those for which specific informed consent has been obtained pursuant to a research study approved by an IRB, provided that the individuals who provided the samples have given prior written consent for the use of their sample for general research purposes and have not specified time limits or other factors restricting the use of the sample. These samples must be permanently anonymized with no possible link to the subjects; or under an amendment to the law, effective January 17, 2002, a coding system, approved by the IRB, must be established to protect the identity of the individuals who provided the samples. Information linking an individual with the specific results of genetic tests may not be released to any organization or person without the explicit written consent of the individual who provided the sample. The requirements for written informed consent for the use of identifiable (coded), stored human tissue for general research purposes are as follows:

    1. A statement that the sample will be used for future genetic tests.
    2. The time period that the tissue will be stored, or if no time limit is specified, a statement that the tissue will be stored as long as deemed useful for research purposes.
    3. A description of the policies and procedures to protect patient confidentiality.
    4. A statement of the right to withdraw consent to use of the sample at any time and the name of the person or organization that should be contacted to withdraw consent.
    5. A statement allowing individuals to consent to future contact by the researchers for any and all purposes, including for general research purposes, to provide general information about research findings, and to provide information about the test on their sample that may benefit them or their family members in relation to choices regarding health care.
    6. A statement explaining the benefits and risks of consenting to future contact as above. 

Other Informed Consent Issues:

  1. Access to test results – At present research studies to identify the genetic basis of a specific disease or condition often generate very preliminary or inconclusive information.  In such cases research test results are generally not provided to subjects.   Where the test results will not be provided to study subjects, this should be clearly stated in the consent document along with a full discussion of the reason such as the work is too preliminary to yield meaningful clinical results.   Under this scenario, the benefits section of the document will probably state that “there will be no direct benefit to you from the genetic testing.  The investigator, however, may learn more about ….”.

    In New York State in order to report a laboratory result with clinical significance to a patient, the laboratory performing the test must be a licensed clinical laboratory specifically authorized to perform the test. If the research protocol includes clinical genetic testing performed by a licensed laboratory, language such as the following could be used:  “If as a result of  participation in this study, we obtain information that could significantly affect your health or well being, we will inform you or your physician of the existence of this information.  You may then decide if you wish to know what we have learned.”  If the study is likely to yield sensitive information to be provided to subjects, it is recommended that access to genetic counselors be arranged.

  2. Description of privacy and confidentiality protections – The consent form should describe how the tissue samples and accompanying data will be maintained and stored.   If a coding system is used, that should be explained.  Who will have access to the code and identifying information about the research subjects should be detailed.   A typical consent form might contain language such as “There are many safeguards in place to prevent the release of information from this study.  All samples will be assigned a code.  The key to the code will be kept in a locked file in the investigator’s office.  Only the researchers on this project will have access to the code and information that identifies you.”

  3. Disclosure of potential risks – Genetic research studies generally present possible risks of social and psychological harm to subjects; the only risk of physical harm may be the risks of blood drawing.

    A new federal law known as the Genetic Information Nondiscrimination Act generally makes it illegal for health insurance companies, group health plans, and most employers to discriminate against individuals based on their genetic information.  Employers with 15 or more employees must comply with this law as of Nov. 21, 2009; health insurance companies and health plans must follow the law by May 21, 2010. 

    The research consent form should accurately describe the potential social/psychological harm that could arise if a person’s genetic information is inadvertently disclosed.  Prior to the effective date of the new federal law, the risk section of consent forms should include language to the effect that “there is a chance that participation in this study could cause psychological distress, economic and social harm.  Even though we will do our best to keep your information confidential as described in this consent form, there is a possibility that if your genetic risk for certain diseases is accidentally divulged to the wrong source, you might be discriminated against in obtaining life insurance, health insurance, employment or ability to adopt children. The researchers believe that the risks of improper disclosure are very small because they have adopted strict privacy and confidentiality procedures for the study.”

    Once the new law takes effect, the possible risks should be described with language as below or similar text:

    “In addition to the confidentiality protections described in this consent form,  a Federal law called the Genetic Information Nondiscrimination Act (GINA) generally makes it illegal for health insurance companies, group health plans, and most employers to discriminate against you based on your genetic information.  GINA does not protect you against genetic discrimination by companies that sell life insurance, disability insurance, or long-term care insurance or by adoption agencies. GINA also does not protect you against discrimination based on an already diagnosed genetic condition or disease. If you would like to know more about it you can discuss this with the principal investigator of this study or you can go to the following website”

    Where test results are disclosed to subjects, subjects should also be advised to be careful about disclosing their own results because of possible misuse of the information.   If the tissue samples are anonymized and not linkable to individual subjects, the confidentiality risk is greatly reduced.

  4. Commercialization of tissue samples – If it is possible that the research subject’s biological sample might have commercial uses, language such as the following should be incorporated into the consent:

    “Your tissue samples, DNA, and their derivatives may be used to develop commercially valuable medical products.  Cells obtained from your tissue sample may be used to establish a cell line which will be used to help identify genes or genetic markers.  These cell lines may have commercial value.  You are being asked to consent to such commercial uses.  There are no plans to share any financial benefits arising from the commercial uses with you.”


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