Human Research Protection Program: Guidance
(11/4/2008)
Genetic testing is defined as the collection of biological material including, but not limited to, human tissue, blood, skin, saliva, nail clipping or hair for the purpose of testing genes, DNA, or chromosomes for connection to a specific condition or behavior. It is becoming increasingly common for social and behavioral scientists to include some component of genetic testing in social and behavioral science research. This testing is done to better understand behaviors.
There are different types of protocols involving genetic testing and only certain types may be reviewed by the Social & Behavioral Science IRB. In order for a protocol involving a genetic testing component to be reviewed by the Social & Behavioral Science IRB, the following criteria must be met:
1) The method of sample collection is cheek swab or other non-invasive procedure, although a simple blood draw may be used.
2) The testing is not being done for clinical or diagnostic purposes, the purpose of the research is to study a known condition or behavior.
3) Results will not be shared with participants and no genetic counseling of participants will take place.
4) Results of the genetic testing will not become part of a medical record.
5) Genetic samples may not be banked for undetermined future use unless they are de-identified.
Proposals for social science research involving genetic testing which meet these criteria should be submitted to the Social & Behavioral Science IRB (SBS IRB) via its electronic protocol submission process, since it has the needed expertise to review the research methods in these protocols. Any protocol involving genetic testing which does not meet these criteria must be submitted to the Health Sciences IRB for review.
When submitting a protocol involving genetic testing to the SBS IRB, the IRB application must discuss the following elements, and the consent process must disclose the following information to participants:
1) That genetic testing will occur and the purpose of the testing.
2) Whether or not identifiers will be linked to the genetic samples and, if identifiers will be linked to samples, when and how the samples will be de-identifed, keeping in mind that removal of names may not be enough to de-identify the sample.
3) What the samples will be used for who will have access to them.
4) How long the samples will be stored and, if the samples will not be consumed by the testing, what will happen to any excess genetic material.
5) Whether samples will be banked for future research and if so what type of future research, where samples will be banked, what information about subjects will accompany the samples, how that information will be protected, and who will have access to it.
6) Whether permission will be sought for sharing samples with collaborators and whether or not those samples will contain identifiers.
7) Risks of genetic testing, including loss of insurance or employment if results were inappropriately disclosed. There may also be risks in not knowing results, such as missing out on the opportunity to get early care for a disease or condition.
8) Whether subjects may request to withdraw their sample and if so how they may do so.
In addition, the protocol must address the issue of confidentiality and data storage since a breach of confidentiality would be the primary risk to participants. The investigator must:
1) Assure the IRB that codes will be used so names will not appear on samples.
2) Samples will be de-identified as soon as possible and, if samples will not be de-identified, provide a justification and details regarding how confidentiality will be maintained.
3) If samples will be de-identified, describe for the IRB the method to be used in de-identification of samples, keeping in mind that removal of names may not be adequate to insure the samples are anonymous.
4) Assure the IRB that samples and codes will be stored securely and provide details regarding the storage of samples, as well as data and master lists of coded data, both in electronic and real world venues.
5) Address the issue of publication and whether or not publication could cause harm to individual participants, or groups to whom the participant belongs, through identification or stigmatization and how this risk will be mitigated if it exists.
If the protocol involves genetic testing of samples from a vulnerable population (such as children), then the protocol application must describe why it is appropriate to include such subjects in the sample population. Keep in mind that federal regulations permit only limited types of research involving children where the research is more than minimal risk and there is no prospect of direct benefit to the children.