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Clinical Genetics Research

December 2003

1.   What are the risks of participating in genetic studies?
2.   May the PI ask for consent for use of DNA/genetic material in future research?
3.   May genetic testing/analysis be conducted as part of non-genetic testing protocols?
4.   May an investigator contact relatives of an existing proband?
5.   May an investigator collect information about relatives from an existing proband?
6.   Is disclosure of genetic testing information to the subjects permitted?
7.   May stored samples be used in new studies?
8.   How does HIPAA affect genetic testing studies?


The conduct of human subjects research involves many complex issues that must be addressed in applications submitted to the IRBs.  The JHM IRBs have noted over the years that in addition to the issues that must be addressed for all research projects, there are several specific points that arise in the conduct of genetic testing protocols.  Therefore, these guidelines were developed to outline some of the specific issues for consideration when researchers design genetic testing protocols and the attendant consent forms. In applications to the IRB we ask that you address the following points in the design and execution of clinical research protocols in the field of genetic testing.  Please also read the IRB “Policy for Collection and Use of Human Biologic Material in Research” on the IRB website for guidance on specimen repositories that may be associated with research projects containing genetic testing components.  Comments or suggestions for modifications of the guidelines in the future should be sent to the IRB email site at: ohsceb@jhmi.edu.

1.    What are the risks of participating in genetic studies?
Participating in genetic studies can involve psychosocial risks for participants and their families.  Although the physical risks are minimal (e.g., typically blood draws), the psychosocial risks of genetic studies may or may not be minimal.  Risks include the effects of the knowledge that one has a disease-related gene that might alter his/her life course, reproductive decisions, employability or insurability.  There are related risks associated with breaches of confidentiality of test results.  The protocol should address the measures to be undertaken to manage these risks.
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2.   May the PI ask for consent for use of DNA/genetic material in future research?
Informed consent for genetic studies must conform to the usual standards.  Subjects must be able to evaluate the benefits and risks to their participation before deciding to join a genetic testing research protocol.  The following outline should guide the investigator’s interaction with the subject through the consent process.

a. Request to use de-identified samples:  The consent form may request the subject to consent to, or refuse, the future use of their genetic material if identifiers are removed from the sample.

PLEASE NOTE: If participants choose not to allow use of their samples for future research, the principal investigator of the project has the obligation to track the cases where the participant declines to have their material used for future research.  The requirement to honor refusal applies to (i) any future use by the PI and his collaborators at Hopkins, and (ii) provision of material to any outside organization for commercial use or for national collaborative research. The IRB may not grant a waiver of consent or of privacy authorization to use such samples in future research The investigator could, of course, decide to re-contact the subject in the future to get the authorization of the subject to use the previously collected sample in a new study.

b.  Use of de-identified samples as inclusion criteria for the study: The consent form may advise the prospective subject that the future use of their de-identified samples is essential to the research and, therefore, they will not be accepted as a participant in the study unless they agree to the future use of their de-identified samples in research. 

c.  Use of identifiable samples:  The consent form may not ask the subject to consent to the use of their identifiable genetic material in future research.  However two options would be available to the investigator for future research using identifiable genetic material:
  (1) The investigator may re-contact subjects from prior studies and get consent from them to use the previously collected genetic material in a new study, or
(2) The investigator may seek a waiver of consent and privacy authorization from the IRB to use the existing genetic material.  However, as mentioned in (a) above, if a subject refused to agree to the future use of his/her genetic material– even if de-identified – this genetic material may not be the subject of an IRB waiver of consent or of privacy authorization.
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3.   May genetic testing/analysis be conducted as part of non-genetic testing protocols?
There are protocols in which genetic tests/analyses are part of a larger study but may not be a necessary/integral part.  In the latter case, participants should be given the opportunity to “opt-out” of the genetic component of the study.   The consent form should make it clear to participants that it is their decision whether or not to agree to the genetic testing component of a larger clinical study and that they may opt out and still participate in the parent study. As noted above in paragraph 2, if a participant “opts out” of the genetic test component, the PI has the responsibility to track this information to assure that the participant’s DNA/genetic material are not used.
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4.   May an investigator contact relatives of an existing proband?
If a research investigator wishes to contact relatives of an index case, the index case or proband must be asked whether this contact is acceptable.  If the index case declines to allow contact of relatives, the project may not proceed.  If permission  is given to allow contact of relatives, there are three acceptable options for contact described below.

Option A: The investigator may provide the proband with a packet of information about the study and asks that s/he distribute the information to eligible relatives.  The packet should include instructions about how to contact the researchers/study coordinator if the relative has further questions.  Investigators can include postcards for relatives to return indicating their interest in being contacted about the study.

Option B: The investigator may ask the proband to provide limited contact information (name, address, phone number) for relatives who are eligible for the study.  Investigators may then send information to the named relatives about whom to contact for additional information and/or about how to indicate their interest in participation.  To facilitate recruitment, investigators may include a generic return postcard for those who do not want to be contacted (i.e., the letter to the relative notes that relatives who do not return the postcard will be called by a member of the research team.)

Option C: The investigator may present Options A and B to the proband and ask the proband to indicate how he/she believes their relatives would prefer to be contacted.
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5.   May an investigator collect information about relatives from an existing proband?
If a research investigator plans to collect information on relatives of the index case from the index case, they should consider collecting the least identifiable information necessary to meet the scientific goal of the study.  For example, if the investigator is interested in how many members in a given family are affected by a particular genetic condition or disorder, s/he should consider collecting the relationship to the index only, rather than the full name of the relative.  The more personal information the investigator plans to collect about family members, the stronger the confidentiality protections needed.  An alternative approach is to request approval from the IRB for the investigator to recruit family members into the study and collect information from them directly with informed consent. 
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6. Is disclosure of genetic testing information to the subjects permitted?
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.  If investigators plan to return results, the consent process should include an option for the subject to decide whether or not s/he wants to be told the results of the screen.  Results may be returned ONLY if the test is on the CLIA approved list of tests for use in a CLIA approved lab.   If subjects want to be told, precautions must be taken to minimize the potential harm of receiving bad news and to preserve the confidentiality of the results.  The precautions needed in conveying genetic screening results depend upon the age of onset of the disorder, the burden of illness, whether there are reproductive implications, and the availability of treatment or prevention.  The communication of genetic information carries with it the responsibility to interpret the results and provide counseling for the individual; and thus, it is ideally done in the setting of a clinical rather than research relationship with the subject.  Procedures for giving information to subjects must be described in the application submitted to the JHM IRB and will be approved by the JHM IRB on a protocol-by-protocol basis.
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7.   May stored samples be used in new studies?
Stored DNA may be studied for purposes not specified in the original consent form ONLY IF:

  • the  samples studied are anonymous AND
  • the samples studied are not the DNA of subjects who opted out of such use AND
  • the IRB approves an exemption to study anonymous samples. 

Samples are anonymous only if there is no possibility that individuals identified as positive for the marker could be identified or located.  Anonymous means that an investigator may NOT hold a code to the samples, which could allow a sample to be linked to the individual who, donated it.  Stored DNA may not be studied if the samples contain any subject identifiers, unless specific prospective informed consent and authorization is obtained, or the IRB approves a waiver of consent and a waiver of authorization for the testing, before the DNA is studied.  As mentioned above, the IRB may not waive consent or privacy authorization if the subject opted out of any future use of their DNA.
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8.   How does HIPAA affect genetic testing studies?
Genetic testing protocols must meet the same HIPAA requirements as applied to all human subjects research studies.  Therefore, the consent document submitted for IRB review must include the appropriate authorization language, or the PI must ask the IRB to waive the requirements for authorization. Justification for a waiver of the authorization requirement must be provided as part of the application.
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