This commentary explains why and how decisions were made about provisions of the Genetic Privacy Act to help readers understand both its scope and the intent of the drafters. Those parts of the Act that are self-explanatory are not referenced in this section.
Sec. 3. DEFINITIONS
The term "Private Genetic Information" is the key to the Act because it defines the information that is protected by it. This definition recognizes that not all genetic information needs or warrants legal protection, and limits the Act's protection to information derived from DNA analysis. The Act, accordingly, does not protect genetic information derived from medical examinations, family histories, or pedigrees.
Like other kinds of personal information, some genetic information is more sensitive than other genetic information. Control of some genetic information is more critical for the exercise of personal autonomy, and publication or disclosure of some genetic information can be more damaging or stigmatizing than disclosure of other genetic information. For instance, although height, eye and skin color, and other physical characteristics are inherited and therefore genetic information, such externally-expressed genetic information is not private. On the other hand, knowledge about the presence of a gene that makes it probable that the individual will suffer a debilitating disease later in life is private information, at least until a point in time when symptoms become manifest or the individual intentionally discloses the information.
We wanted to draft a definition that is based on a principled distinction between "private" and other genetic information, and at the same time susceptible to practical application. The manner in which genetic information is created contributes to its private nature. Genetic analysis of an individual's DNA, such as testing for a specific disease gene, particularly if signs and symptoms of the disease are not manifested, is an obvious source of such private information. Similarly, if an analysis reveals that an individual is the carrier of a recessive disease gene which could be passed on to offspring, this carrier status is private information if derived from a DNA analysis. Carrier status could also be inferred from a genetic condition in an individual's child. Therefore, another source of private genetic information about an individual is the analysis of the DNA of a close relative of the individual.
Private genetic information can also be obtained from a family history of a genetic disease. Physicians who inquire about the incidence of a particular condition in a patient's family acquire private genetic information on a regular basis. This source of private genetic information is the least susceptible to regulation and control because it is virtually impossible to distinguish such private genetic information from other family medical history in any principled way.
Development of a genetic medical history can be a complex process involving review of medical records of several family members, or it can result simply from asking the patient a few questions about specific relatives. Regardless of the nature of the inquiry, the purpose is the same: to determine an individual's risk of having inherited a gene. For example, developing a family pedigree or history can be used to determine whether or not a woman is likely to have inherited a breast cancer gene. The prediction that an individual family member has inherited the gene may be based solely on the patient's report of the age and relationship of other women in the family who have developed cancer. [8]
Although one process uses DNA analysis and the other does not, both lead to the creation of the same private genetic information: the prediction of a predisposition to disease. Nonetheless, distinguishing between "private genetic information" derived from a family history and other medical information derived from a family history is problematic. For example, it is difficult, if not impossible, to distinguish between the prediction of having inherited the breast cancer gene, based on disease occurrence in the family, and establishing a person's risk for other diseases, such as heart disease or diabetes, based on the prevalence of these diseases in a family.
Inclusion of family history-based risk information in the definition of "Private Genetic Information" would protect information that has historically been collected and disclosed as ordinary medical information, and virtually all medical records would be subject to the provisions of the Act. Extending the umbrella of protection through such an expansive definition would necessitate the overhaul of well established medical information practices and policies.
A similar analysis leads to the same conclusion regarding biochemical tests that detect the presence or absence of a protein that indicates the presence or absence of a particular gene. By not including genetic information derived from family histories, biochemical tests, or methods other than DNA analysis, we recognize that some genetic information will escape the protection of the Act. We have opted to exclude this type of genetic information to avoid the enormous practical problems presented by including it. Despite this underinclusiveness, we believe our definition is consistent with the goal of protecting information developed within the context of the Human Genome Project as a result of mapping the human genome: information derived from DNA analysis is subject to uniform and comprehensive privacy protection.
(n) SAMPLE SOURCE. - The term "sample source" means the individual from whose body the DNA sample originated.
(o) SAMPLE SOURCE'S REPRESENTATIVE. - The term "sample source's representative" means any person who has the legal authority to make health care decisions concerning a minor or an incompetent person, or the administrator or executor of a deceased person's estate, if any, otherwise the next of kin of a deceased person.
"Sample Source" refers to the individual from whom a DNA sample has been collected. It is necessary to have a term that distinguishes the individual from whom the DNA originates from other persons who may have possession of, or interest in, a DNA sample. We considered suggestions by reviewers of early drafts to utilize a term that was less de-humanizing, such as sample source person, human source, or source individual. However, despite the desirability of preserving the sense of person in regard to individuals who have DNA analyzed, alternatives were either awkward in the context of the statutory provisions, or did not maintain the connection between the DNA sample and the person from whom it originated in a clear and succinct way. We also considered using terms that were familiar from use in statutes like the Uniform Anatomical Gift Act and medical records acts. However, because only some genetic information is medically relevent, they were found to be of limited applicability in discussing DNA.
"Donor," a term associated with blood collection and organ harvesting, was also considered. However, it has not been used in conjunction with the collection of biological specimens for purposes other than selling them or giving them away, and consequently it would only be accurate if the DNA samples were intended to be used by others.
The term "depositor" was also considered, and would be consistent with the concept of DNA banking. While it is a term used by others such as the Ad Hoc Committee on DNA Technology of the American Society of Human Genetics,[9] its relevance and utility are diminished when banking is not the focus of the activity that is to be regulated. "Depositor" is only accurate when referring to someone who leaves tangibles with another person for storage, safekeeping or transfer to a third party and it assumes that a voluntary act is involved. However, the Act regulates the collection and analysis of DNA whether or not it involves a voluntary act of depositing. While the term would be applicable to circumstances where DNA samples are temporarily stored or maintained "as is," and where the recipient only functions as a custodian, such storage alone is not the activity that we are primarily concerned with controlling. Furthermore, although suggesting a role of stewardship on the part of the recipient, it fails to acknowledge the connection that the depositor would still have with the information contained in the deposited DNA sample.
In comparison to these terms, "sample source" clarifies that the individual referred to is the one from whom the DNA has been extracted, without being unnecessarily wordy or conjuring up images and associations that are inconsistent with the nature of the sample itself or the information it contains. It avoids reference to how the person storing or analyzing the sample came into possession of the sample, and is the simplest term available.
If the sample source does not have the legal capacity to exercise the rights granted by this Act, they can be exercised by the "sample source's representative." This is the person who is legally authorized under state law to make health care decisions for such persons. For minors, the sample source's representative will usually be a parent or legally appointed guardian. For an incompetent person, the representative could be a guardian, or a person appointed under a health care proxy or similar legal instrument, to act on behalf of the incompetent person. The term also encompasses those who are authorized to make decisions regarding deceased persons or a deceased person's estate.
An executor or administrator, who is authorized to act on behalf of a decedent and the decedent's estate, could authorize disclosure of private genetic information about the sample source. Samples collected prior to death may, as property of the sample source, be included in his or her estate, and consequently, the executor or administrator would be responsible for authorizing the storage, transfer or destruction of such samples in accordance with the decedent's wishes.
(f) DNA TYPING. - The term "DNA Typing" means a scientifically reliable method for characterizing and comparing sequences of DNA, and applying a statistical analysis of population frequency to determine that if the DNA sequences match, the probability that the match occurs by chance.
"DNA typing" refers to what some commentators term "DNA profiling" or "DNA fingerprinting." "Typing" was selected because it is the most accurate term for identifying the process used in forensics to determine if one DNA sample "matches" another sample, and calculating the probability that a match is due to chance. It is our intent to clarify that this identification process, unlike other kinds of DNA analysis, yields genetic information that has no independent meaning and is only useful for matching purposes in much the same way that an individual's fingerprint provides no more information than the identity of the individual.[10]
(g) IDENTIFIABLE INDIVIDUAL. - The term "identifiable individual" means any individual whose name, address, Social Security number, health insurance identification number, or similar identifying information is known, available, or can be determined with reasonable accuracy either directly or by reference to other available information.
(h) INDIVIDUAL IDENTIFIER. - The term "individual identifier" means a name, address, Social Security number, health insurance identification number, or similar information by which the identity of a sample source can be determined with reasonable accuracy, either directly or by reference to other available information. The term does not include characters, numbers, or codes assigned to an individual or a DNA sample which cannot be used to determine the identity of a sample source.
(i) INDIVIDUALLY IDENTIFIABLE DNA SAMPLE. - The term "individually identifiable DNA sample" means any DNA sample linked to an individual identifier.
(j) INDIVIDUALLY IDENTIFIABLE RECORD. - The term "individually identifiable record" means any record that contains private genetic information linked to an individual identifier.
Throughout the Act the words "sample," "records," and "individual" are often modified by the terms "individually identifiable" or "identifiable." This is necessary to distinguish samples and records which are linked to individual identifiers from those which are not. The choice of "linked" to express the connection between the sample and the identifiers is meant to be as broad and inclusive as possible. No matter how loose or indirect the linkage may be, if there is a way to connect a sample to an individual, the sample is not anonymous. Only when the numbers or characters assigned to samples simply distinguish one sample from another, are otherwise meaningless, and cannot be matched with any identifiable person, are the samples no longer individually identifiable. The term "individual identifier" as defined here is intended to include any name, number or code that can be used to learn the identity of an individual.
This distinction between samples that are individually identifiable and those that are not is significant, since the goal of the Act is to protect the privacy interests of individuals. Unless DNA samples are linked to an individual, use of the samples and use of the information derived from the samples does not implicate informational privacy interests. Consequently, regulation of the use of such samples or information is not within the domain of the Act.
File posted May 1995.