Genetic Research
Genetic research may be conducted on biological specimens for a variety of purposes, including identification of the presence of a genetic variation that may be linked to a predisposition to a genetic disease or disability or linked to a genetic factor altering a disease’s progression or severity in the individual or the individual’s offspring. Genetic research involves the analysis of DNA, RNA, proteins, chromosomes, alleles, and tissues and cells that contain DNA. Genetic research presents the following potential risks: learning personal health information that may provoke anxiety and confusion, learning information about other family members (by default) who did not consent to participate in the research, learning information that may have adverse consequences with regard to insurability and employment, and, when conducting genetic research within genetic pools such as ethnic communities, the risk that genetic anomalies may be linked to these communities and their members. These harms are psychosocial or psychological rather than physical in nature, but like all risks of participation in research, they must be described in the consent form. Please see the HRPP Procedure titled, ’Use of Genetic Tests and Investigational Genetic Tests in Human Research’ for additional information regarding informed-consent requirements particular to genetic research. An overview of these requirements is presented below.
- The risks of information derived from genetic research becoming known to the subject or others must be explicitly stated in the protocol and the consent form. Depending upon the nature of the genetic information, the risks may include: (a) denial of access to or retention of benefits, entitlements, or employment; (b) social consequences such as stigmatization, discrimination, and labeling; (c) psychological responses; and (d) detection of biological relationships within a family.
- If the researcher has deemed that the results are clinically relevant and the test was conducted in a CLIA-approved laboratory, as in the case of established genetic screening tests (e.g., neonatal screening for phenylketonuria), then the terms of disclosure of these test results must be included in the consent form. In addition, test results are best provided by a genetics counselor, who can interpret this information for participants. As is more often the case, the researcher may deem that the test results would not affect the subject’s clinical care or that the finding is incidental to the research (e.g., biological relationships). In this case, the subject is told that the test results will not be shared with the subject and no record of these tests will appear in the subject’s medical record.
- Subjects must be explicitly told that they are free to withdraw their stored tissue samples at any point during the conduct of the research. The investigator may wish to offer the subject the option of storing an anonymized tissue sample rather than destroying the tissue sample. If no option is presented to the subject, it will be assumed that the tissue sample will be destroyed. In addition, it should be made clear to the subject that withdrawal of his or her tissue sample will result in no further use of the tissue sample; however, any data already derived from the tissue sample would continue to be utilized in the research.
- Since many of these tissue samples are stored for an indefinite period of time, the investigator also has the responsibility of stating that future holders of the tissue collection will adhere to all of the conditions noted in the consent document.
- The principles stated in the section on exculpatory language with regard to stored tissue and subjects rights to monetary rewards for products developed from a subject’s tissues also apply to banked genetic samples from which cell lines are developed. First, the subject should be given the choice of whether a cell line is developed from his or her genetic material. Second, although the subject cannot be asked to give up his or her rights to litigation, the subject should be clearly informed that he or she will not share in the investigator’s monetary rewards for patents or biological products derived from cell lines or genetic material.