The relationship between genotype and the health of an individual is frequently unclear. Biological relatives share genetic components and may be affected by the same conditions, thus, the information gained from a study may have implications beyond the individual subject. Privacy and confidentiality take on special importance because misunderstanding or misuse of genetic data can have profound implications for families, society and science. Only investigators with competence in genetic counseling should provide subjects with the results of genetic tests obtained for research purposes. Limitations in interpreting genetic tests due to variability and the limited knowledge about the clinical implications of specific polymorphisms should be clearly discussed with the subject.
The IRB offers the following guidance with regards to human genetics research:
- Genetics research subjects or, when appropriate, their guardians are required to provide voluntary, informed written consent.
- Participants should have the option of selecting whether or not they want access to the genetic information generated by the study. Their decision should be recorded in the informed consent form.
- Participants should be informed that in pedigree analysis and family linkage studies, the investigation might determine that some members of their family are not genetic relatives. However, those results will not be disseminated. Furthermore, it is sometimes possible that other family members may learn private genetic information about the participant.
- Where genetic research may generate information important to the relative of a research subject, the subject's consent should be sought prior to approaching relevant family members. If there is a threat to a family member's health and the participant refuses permission to disclose his or her genetic information, the investigator must consider whether the threat is sufficiently serious so as to warrant disclosure without the participant's consent. In these cases, ethics committees are available for guidance.
- Researchers should be aware of the pressure that may be applied by other family members to participate in studies. They should be particularly sensitive to the issue in the context of research that is burdensome or carries risks, such as the possibility of revealing information that might be predictive of future illness. The recruitment of family members identified by a participant should only be undertaken if the participant agrees, and with the participant's assistance if possible.
- There are many levels of confidence in science and in the uses of information, making it difficult to propose universal standards for consent for unspecified future genetic research. Therefore, the IRB proposes three (3) tiers of consent for unspecified future genetic research.
- De-identified. The sample source is completely de-identified: a) only the sex and age of the source are identified; and b) the donor has no possibility of receiving individual results or rewards. This does not require prior consent but does require IRB approval.
- Coded or potentially identifiable. If the sample source has the possibility of identifying a number of characteristics, such as, age, sex, dates of exposure or general health habits, but not individuals, the donor may receive general information, if desired, regarding research results. There will be no attempt to personalize the research results. To prevent the possibility of access to the information by others, the researcher will ensure all information of pertinence to individuals will be protected. Clinically relevant information can be given to the participant on request. This requires informed consent for the overall study but not for each specific use of the genetic materials. Researchers are obligated to consider how to deal with informing sample donors of clinically relevant results should they be discovered. IRB approval is required.
- Identifiable. If the sample source is to have open-ended identification, the researcher can obtain as much coded information as necessary for the study. The subjects must be re-consented in advance and they may, if they desire, receive their individual research results.
Genetic research involving children
Genetic research involving children involves special ethical obligations. Children may be at particular risk of perceived adverse consequences, both within and outside their families, as a result of genetic testing. The protocol should include a formal discussion with parents about the decision where and when to reveal genetic information to children. If the child is over seven (7) years of age, s/he should be given age-appropriate genetic counseling and where appropriate, consent forms for assent to the testing.
For research that involves more than minimal risk with no prospect of direct benefit to the child, or for research that requires approval of the Health and Human Services Secretary, the study must either be 1) related to the child’s status as a ward, or 2) be conducted in schools, camps, hospitals, institutions, or similar settings in which the majority of children involved as subjects are not wards. [45 CFR 46.406-409]. The IRB is required to appoint an advocate for each child who is a ward. The advocate is required to have the background and experience to act in, and agrees to act in, the best interests of the child for the duration of the child’s participation in the research and who is not associated in any way with the research, the investigator, or the guardian organization. The requirement for an advocate is in addition to gaining permission from any other person acting on behalf of the child as guardian or in loco parentis.