RESEARCH ACTIVITIES
Sec. 131. RESEARCH INVOLVING GENETIC ANALYSIS
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[subpart on pedigree analysis discussed below]
(g) USE OF UNIDENTIFIABLE DNA SAMPLES NOT PROHIBITED. -- Nothing in this Act shall be construed as prohibiting or limiting research on a DNA sample that cannot be linked to any individual identifier.
The provisions included in this part are detailed, and modify and adapt the general rules about the collection, storage, and analysis of DNA in the research setting. By setting forth detailed rules that govern use of individually identifiable DNA samples in research, the Act takes some of the burden off researchers who would otherwise have to develop guidelines for individual projects on a case by case basis. Moreover, nothing in the Act prohibits or limits the use of non-identifiable DNA samples in research [see section 131(g)]. Minors are treated differently in the context of research than elsewhere. Parental authority to authorize analysis of a child's DNA, although not absolute in any circumstances (see discussion in regard to section 141), is restricted in the context of research in unique ways.
This section incorporates by reference and builds upon the requirements of the Federal Policy for the Protection of Human Subjects, which apply to 16 federal departments and agencies that conduct or support research involving human subjects.[37] The rules presented here, however, are applicable to research regardless of whether it is conducted under federal support and regulation, or is financed entirely by private sources.
The section requires as a condition to analysis of an individually identifiable DNA sample in research that an Institutional Review Board (IRB) must make certain determinations. First, use of such samples must be essential to the project. This creates an initial barrier against using genetic analysis unnecessarily. Furthermore, the potential benefit of the project must outweigh the risks to the subjects. Although this requirement is not novel, in weighing these risks, the IRB must consider the psychosocial risks and intrusion into the privacy of the subjects which would result from an analysis. [section 131(a)(2)] This consideration has been specifically included because the risk that might otherwise be focused on is that presented by the relatively non-invasive procedures used to collect specimens that contain DNA, such as taking of blood or extrapolation of hair or tissue samples. In this area of genetic research it is the information that results from the analysis itself, and not a procedure performed on the subjects, which presents the risk to an individual's privacy and well-being.
To guard against needlessly exposing subjects to these risks, the IRB must determine that the research protocol has adequate safeguards to protect against disclosure of private genetic information created as a result of an analysis. Although the statute does not contain an exhaustive list of safeguards, it notes three specifically: obtaining a certificate of confidentiality from the Secretary of Health and Human Services pursuant to 42 U.S.C. 241(d)(which would protect the identity of the subjects from any compelled disclosure); ensuring that subjects will not be identified in publications or reports; and limiting the length of time that identifying information is maintained by destroying identifiers at the earliest possible time consistent with the purpose of the project. [section 131(b)]
Samples which no longer exist pose no threat of unauthorized analysis, therefore section 131(d) also requires that individually identifiable samples be destroyed on completion of the project or withdrawal of the sample source from participation, or that all individual identifiers be removed. This requirement can only be modified by the specific authorization of a sample source. As a result, projects which intend or anticipate secondary use of samples must obtain authorization to store samples beyond the initial analysis for use in any follow-up studies.
Use of DNA samples is further restricted when it involves subjects who are under 18 years of age. Section 131(c) requires that prior to authorization for collection and analysis of the DNA of a minor under 18, the parent or guardian must receive the information in section 101 which is applicable to the circumstances. Furthermore, the statute contains a limitation in regard to the information that the parent or guardian who authorized the analysis of the child's DNA can obtain from the person who conducts the research. This limitation is unique, and is one of the few exceptions to the general policy of giving the person who authorizes an analysis access to the all the information that results. Pursuant to this rule, although the parent or guardian must execute an authorization that is similar to one that is required by the basic rules, the authorization itself must contain one additional limitation. That is, the parent or guardian must agree that the results of the analysis can be withheld from the parent under certain conditions. If the analysis reveals a genetic condition which "in reasonable medical judgment cannot be ameliorated, prevented or treated while the sample source is under 18" [Section 131(c)(2)] the parent or guardian has no right to access that information. (See discussion on children at page 110, infra.)
Section 131(c) authorizes both parents and guardians to provide permission for research with minors. There is some question whether guardians should have this authority. The reason for limiting such authority solely to parents is that genetic research may unveil information about other family members and therefore a parent would be in the best position to determine whether or not this ought to be done. Furthermore, as a result of their parental role, it is likely that parents would be best situated to protect the interests of their minor children. It is also not apparent that limiting research to that which could only be performed on children with parental permission would limit genetic research with children. While such a limitation would exclude some particular children from being research subjects, it is not clear that requiring parental permission would eliminate the possibility of conducting an entire research project. There are, therefore, good arguments that guardian permission should not be sufficient for authorizing genetic research with children. However, we have included guardian authorization for genetic research with children to be consistent with the federal rules and because we were not sure if excluding guardian permission would, in fact, cut off some avenues of important research. However, where a genetic research project can be conducted with children with an available parent we think it would be appropriate for IRBs to exclude as subjects children who have guardians.
Sec. 131. (e) PEDIGREE ANALYSIS AND FAMILY LINKAGE STUDIES. -- When a research project includes analysis of DNA from family members for pedigree analysis or linkage analysis--
Genetics can be thought of as the study of family information, and this is evident in research involving pedigree analysis. Historically, this method has been used to search for a particular gene and often begins with the study of gene markers in families with members who have the condition or disease that is under investigation. Through the analysis of DNA of several individuals and across generations, inferences about the presence and transmission of genetic conditions are made. Huntington disease, adult polycystic kidney disease, and familial breast cancer, are examples of diseases that were thought to be caused by a gene, and those genes were eventually discovered through linkage analysis. Because of the design of such studies and the nature of the information that results, maintaining individual privacy and confidentiality of participants is particularly difficult. The rules set forth in section 131(e) are intended to address the peculiarities of these family studies and the preservation of individual privacy in this context. These rules fall into two general categories: those that require specific information be given to participants, and those that govern the manner in which the researcher maintains and discloses information that is developed.
When a research project will include pedigree or linkage analysis, in addition to all the other requirements contained in the previous sections, the IRB must also require that some education and counseling be provided to research subjects. This is intended to ensure that subjects are aware, before they agree to participate, of how pedigree analysis is conducted and the kind of information that it produces. [section 131(e)(1)(A)] Since results of such studies usually consist of statistical probabilities regarding whether or not the subject carries a gene, such information may result in a greater sense of uncertainty than would have been expected by participants. Counseling provides the opportunity for individuals to identify and deal with such uncertainties.[38]
In addition, they must be told that one risk of participation is that others in the family may learn private genetic information about them. [section 131(e)(2)(A)] During the course of such study it may be impracticable, if not impossible, for information about one individual to be conveyed to that person without information about another being inferred in the process. For example, if individuals are told they have a marker that is linked to a disease causing gene or the probability that they have a disease causing gene, ensuing discussion may educate them on the probable transmission of the gene and by inference, the status of another individual. Before agreeing to participate, subjects also must be made aware that misattributed paternity can be discovered through the results of the DNA analysis of several family members. Consequently section 131(e)(2)(C) requires that they be told that the project may determine that some members of their family may not be genetic relatives.[39]
Despite the fact that participants in pedigree analysis and linkage analysis cannot be given a guarantee that no other family member will find out information about them in the course of the project, this does not mean that researchers are excused from making maximum efforts to maintain the confidential nature of information that is created. To assist with that endeavor section 131(e)(1)(B) instructs the IRB to require that, as far as practicable, individual records be maintained on each subject. Regardless of this rule, since the purpose of the project is to study the transmission of genes among family members, some pooling or compilation of information about several individuals in some records may be necessary. A charted pedigree which contains a shorthand version of information that has been extrapolated from the analyses of individual subjects is the most likely example. Unlike the family tree used in other genealogies, this pedigree may have notations that refer to the genetic condition of particular individuals and not just graphically represent innocuous information known to all members.
The researcher that creates group records, such as the charted pedigree, will be faced with a dilemma if an individual participant requests inspection of records containing his or her private genetic information and pursuant to section 113. On the one hand, access to such records containing information on the individual is mandated; on the other hand they also contain someone else's private genetic information. Therefore section 131(f) states that when complying with such a request, no person shall provide an individual member of the pedigree with private genetic information about another person without that person's authorization. Consequently, individuals can be denied access to their charted pedigree on the basis of this rule. This should not, however, prevent the holder from providing the individual with his or her own private genetic information. If the information is contained in other records which may not be examined, the holder can convey the information verbally or rewrite it. Of course, if everyone in the pedigree authorizes the disclosure of the pedigree itself, that too would fulfill the prerequisites to disclosure. On a practical level, however, it could be cumbersome and complicated for a researcher to obtain everyone's authorization. Rather than requiring that a researcher seek and obtain all participants' authorization, the Act permits the researcher to choose between denying inspection of the pedigree to participants or obtaining everyone's authorization.
Lastly, to enable subjects to exercise their rights regarding their private genetic information, they must be informed of what will happen to records and data generated during the project. [131(e)(2)(B)]
Sec. 132. DISCLOSURE OF PRIVATE GENETIC INFORMATION FOR RESEARCH PURPOSES
Researchers' interest in private genetic information is not limited to information they create through DNA analysis, but includes information that already exists. Access to genetic disease information, for example, will be sought much in the same way that medical information has traditionally been accessed by researchers from patient records. In recognition of this interest, laws governing the confidentiality of such patient information instruct medical record keepers as to the conditions under which access to patient information can be granted. In deference to the societal benefits of medical research, such disclosures can be permissible without the patient's knowledge or authorization.[40] One rationale for not requiring patient consent prior to disclosures to researchers is that lack of consent from some of the targeted patients could seriously bias the results of a research project, and raise questions as to the validity of conclusions drawn from the study.[41] While this concern may have merit, removing control from the patients places the control of private information in the hands of the keeper of the information, who may or may not be capable of appreciating the risks to the subjects of the information and representing their interests. This can be especially problematic when the patients whose information is sought belong to a vulnerable population whose interests are not as well represented as those of the general population. The provisions of this section are, therefore, intended to strike a balance between such competing interests, and to maximize individual control over private genetic information. They also reflect the anticipation that genetic research will, more often than not, involve the analysis of DNA samples rather than the secondary use of information derived from such analysis.
Section 132(a) sets forth the general rule governing holders of private genetic information and states that access to researchers is prohibited unless an IRB has approved the conduct of the research and the sample source (or the sample source's representative) has authorized the access or disclosure. An exception to this general rule nevertheless permits access to records containing private genetic information when records are inspected for compiling data for statistical or epidemiological use only. In the process of compiling such data, however, no records containing identifiable private genetic information may be copied, and new records containing identifiable private genetic information cannot be created. [section 132(b)]
This exception accommodates the legitimate societal interest in such studies without risking unauthorized disclosure of information about an identifiable individual. To ensure that such access is not casually granted, the Act further requires that the person inspecting such records certify in writing that the limitations will be complied with, and that they are aware of liability for violations of these rules. [section 132(b)(2)] Of course, nothing in these provisions obligates a person who, in the ordinary course of business maintains records containing private genetic information, to provide such access to researchers. Finally, this section does not limit access to records containing genetic information, if those records contain nonidentifiable genetic information only.
Sec. 133. EXCEPTION FOR DNA SAMPLES PREVIOUSLY COLLECTED FROM DECEASED PERSONS
(a) ANALYSIS PERMISSIBLE. -- Notwithstanding the provisions of section 131, an individually identifiable DNA sample which was collected from a sample source who died prior to the effective date of this Act may be analyzed as part of a research project, but no individually identifiable genetic information may be disclosed without the authorization of the sample source's representative;
(b) DISCLOSURE TO RELATIVES. -- If the analysis of a DNA sample permitted by subsection (a) determines that a relative of a deceased sample source is at risk for a genetic disease which in reasonable medical judgment can be effectively ameliorated, prevented, or treated, nothing in this Act shall be construed as prohibiting researchers from contacting such relatives and informing them of such risk provided that private genetic information about the sample source is not disclosed.
This section is needed because research affected by the Act may already be underway. Living sample sources can be contacted prior to analysis of their DNA samples for purposes of complying with this Act, deceased sources, of course, cannot.
Section 133(a) permits analysis of the DNA of an individual who died prior to the effective date of this Act, so long as no identifiable genetic information is disclosed by the researcher without the authorization of the sample source's representative, i.e, the executor or administrator of the decedent's estate. The executor of an estate has been recognized elsewhere as the person who can waive privilege when discovery of confidential communications of a decedent are sought.[42]
This section additionally permits a researcher who analyzes the deceased person's DNA and in so doing determines that a relative of that person is at risk, to contact such individuals to tell them of that finding. The researcher may not, however, disclose private genetic information about the decedent. [section 133(b)]
File posted May 1995.