Context and meaning.

Content analysis revealed six categories that described the context in which the term ‘genetic identity’ was used and its, often implicit, meaning: A) ancestry or heritage, B) personal identity, C) (the beginning of) individuality, D) privacy or property, E) regions of DNA, and F) cells and genes. These categories and the codes from which they are comprised are depicted in Table 2

The relationship between these meaning categories and articles’ disciplinary perspective, location, and year of publication is depicted in Fig 3. Ancestry and heritage (category A) was most frequently coded, regardless of disciplinary perspective or location. As might be expected, the cells and genes category (category F) was most often used in articles from life sciences and medicine disciplines. Most categories did increase over time, however both ancestry and heritage (category A), and (the beginning of) individuality (category C) peaked in the period from 1997–2006, and declined in the past decade. The cloning of Dolly the sheep [19] and completion of the Human Genome Project [18], respectively, are two influential events that might explain the peak in interest in the (beginning of) individuality category, which includes discussion of cloning, and the peak in the ancestry and heritage category.

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Fig 3. Number of articles for each ‘genetic identity’ meaning category by discipline, location, and year.

https://doi.org/10.1371/journal.pone.0228263.g003

Parentage (A1).

‘Genetic identity’ was used in relation to the need to know one’s parentage and the establishment of legal parentage, most often in the legal literature. The importance of knowing one’s parentage was discussed in relation to adoption or anonymous sperm donation. In these cases the courts tend to focus on ‘genetic identity’ (in the sense of biological parentage) when establishing legal parentage, although situations concerning surrogacy and In Vitro Fertilization (IVF) prove even more complicated due to different actors taking on various roles of a parent. Indeed, ‘genetic identity’ was used exclusively to refer to genetic parenthood in the sub-category of parentage.

These cases demonstrate that genetic identity is a key element of the court’s understanding of identity. This is clear from Mikulic and from subsequent cases that deal with the establishment of paternity. The court’s focus was not on the existence of a social relationship between the plaintiffs and the biological father, but simply on the biological truth of the plaintiffs’ paternity and the importance of that to their personal development [20].

Who is the mother? Is it the woman who carried the child for nine months and gave birth, or is it the woman who provided the egg and therefore gave the child its genetic identity? [21]

The painful question of genetic identity and its complexity is evidenced by the nomenclature advanced by Snowden and Mitchell. They contend that there are actually seven distinct roles for the female: genetic mother, carrying mother, nurturing mother, genetic-carrying mother, genetic-nurturing mother, carrying-nurturing mother, and complete mother [22].

Genetic relatedness and similarity (A2i and A2ii).

In this subcategory, ‘genetic identity’ was used to mean ‘genetically identical’ in the case of identical twins (or clones), or the term was used in reference to the sharing of certain biological characteristics between people, families or species. These shared characteristics were, for example, associated with altruistic behaviour, while other articles emphasized the inheritability of these characters. Definitions of ‘genetic identity’ in this subcategory include something that ‘as opposed to genetic uniqueness, has to do with the extent to which our genes are shared with others’ [23]; ‘the binding together of people on the basis of a particular genetic characteristic they share’ [24]; something to be constructed ‘in terms of inheritable species-typical biological characteristics, and inheritable anomalous biological characteristics’ [25]; and involving ‘some ‘defining characteristic’ reappearing in each member of a sequence or family of occasions’ [26]. ‘Genetic identity’ is used and defined to mean ‘identical’, ‘similar’ or ‘related’ by descent in this subcategory.

Deliberately bringing about genetic identity can be ethically reprehensible if and only if, by being made genetically identical, the persons who are thus born are deprived of something that is their right: namely, the right to genetic uniqueness. As has already been indicated, the claim that there is such a right is of dubious validity. [27].

Religion enters into the center of the debate for Burhoe regarding how altruistic behavior is to be understood and accounted for. It is noted that whereas genetically related species exhibit a high degree of cooperation, the less genetic identity obtaining between individuals leads to a diminishment of cooperative activity [28].

Population genetics (A3i and A3ii).

Several authors used ‘genetic identity’ in relation to ethnicity or race. Definitions include ‘ancestry’ [29]; and ‘the ethnic-specific profile shaped upon Y-chromosome genes’ [30]. Other authors expressed concern with the prioritization of genetic constructs of ethnicity or race. A recurrent topic is that of Jewish identity, with a number of authors highlighting that ‘Jewishness’ is not based on ancestry alone. A number of articles used ‘genetic identity’ in regard to mathematic models of the probability of two individuals sharing specified DNA. These articles frequently defined their use of ‘genetic identity’, as ‘the fraction of the genome that is identical by descent’ [31]. ‘Genetic identity’ was used to describe or to study certain populations in this subcategory.

Current research dealing with population genomics and the origins of human populations raises several challenges to Native American identity based on a blend of scientific and legal attacks. This research places a heightened emphasis upon ‘genetic identity’ in accordance with contemporary scientific analysis, but in reality, this research constitutes a twenty-first century manifestation of a very old phenomenon in American social politics: the construction of race [32].

The legacy of race and ethnic nationalism bleeds into contemporary literature around the genetics of Jews. (…) disinterested sounding terms like ‘genetic identity’ presuppose specific notions of ancestry and racial purity. (…) Indeed, resonating with her discussion about the problems gender poses to ethnicity as a marker of ancient Jewishness, Baker draws attention to the significant presence of European women (at least 80%), incorporated into the community through conversion, marriage, and motherhood, in Ashkenazic Jewish genetics [33].

Personal and social identity (B1).

Articles in this subcategory discussed the impact of genetic knowledge, derived through genetic technologies, on one’s self-concept, social position and life. Definitions of ‘genetic identity’ in this subcategory include ‘that dimension of self-concept that develops from the individual’s perception of his or her inherited endowment’ [34]; and ‘one part of the lived experience of the genetic body’ [35]. A recurrent term in the reviewed literature that addressed these two identities is ‘biosociality’: a term that combines the biological body or biomedical knowledge with social relationships. Articles in this subcategory described the importance of social relationships in constructing ‘genetic identity’.

One way to engage with genetic knowledge as expressed in these two books is to consider the social and political context in which genetics are enacted as biosocial practices. Both studies illuminate that genetic identities are far from being centered on a stable bounded biological body, but rather concern a biosocial body surrounded by a plurality of genetic practices and discourses that are being reconfigured in social relations [36].

Biosociality recognises a central role for biomedical knowledge in constructing genetic identities and producing and reproducing social relationships. Accordingly, it is often imagined as a new form of social solidarity [37].

The more the study moves out from the individual subject to the family, the more important is the assumption that social identity–who we believe we are–coincides with genetic identity–who genetically we are [38].

‘Disease’ identity (B2).

‘Genetic identity’ was also used in reference to genetic defects. Articles in this subcategory considered the significant consequences that (knowledge of) a genetic disease or predisposition can have on people’s sense of identity. These consequences were usually described in the context of genetic testing. Definitions of ‘genetic identity’ include ‘a shattered self-adequacy syndrome caused by the knowledge that one possesses a defective gene’ [39]; and ‘a function of defects to be corrected’ [40].

Individuals have to decide not only whether to incorporate their condition into their sense of themselves, but also how—with what moral valence (i.e., as positive or negative). They wrestle to gauge whether to view this genetic identity as negative or neutral—and to what degree to do so. A few saw themselves as “mutants,” “evolutionary errors,” “mistakes,” or “freaks of nature.” They felt that they had a ‘bad gene’ or ‘flaw,’ and struggled to understand it, stumbling at times in seeking appropriate terms. The fact that a mutation can be viewed as tainted can impede construction or embrace of a genetic identity [41].

The subcategory frequently overlaps with the population genetics subcategory described above, since ‘genetic identity’ was often discussed in regard to certain ethnic groups, due to a high prevalence of deleterious mutations in some populations, for example mutations in BRCA genes and Ashkenazi Jews. A perceived responsibility for genetic disorders was described in other articles and is particularly relevant in the context of prenatal testing and reproductive choices. Articles in this subcategory illustrated the use of ‘genetic identity’ concerning genetic disorders or predispositions and demonstrated their impact on one’s sense of identity, choices, and options in life.

Genetic accountability and genetic identity are now expanding beyond prenatal testing. Jewish women may perceive a ‘social obligation to do anything they [can] to advance’ research on BRCA1 testing. Accordingly, at least one researcher has warned that 'those obtaining consent for Jewish women [for BRCA1 testing] should be aware of the “slippery slope” from perceived social responsibility to coercion’ [42].

Religious and spiritual identity (B3).

In this subcategory the term ‘genetic identity’ was used to describe the relation between religion and ancestry. This subcategory illustrates the complex relationship between ‘genetic identity’, religious and ethnic identity and shows ‘genetic identity’ and religious or spiritual identity are both described as related and distinct concepts.

That is, blood relationship is part of the glory and mercy of God’s creation; genetic identity is a God-given principle, not a man-made one. (…) In particular, verses 5–6 create a complicated relationship between genetic identity and religious identity, and they seem to affirm an Islamic social structure based not just on faith but also on blood relationships [43].

‘This “half-Sikh identity”’, Wilson J concludes, ‘is a “genetic identity” which the mother was attempting to ‘re-write’. So, like Ward LJ’s judgment in Re P, the child in Re S is seemingly racially or ethnically Sikh through carrying his father’s ‘Sikh genes’ (as N was a Jew in Re P), but he can and should become a Muslim by faith, like his mother [44].

Gender identity (B4).

‘Genetic identity’ was sometimes used in relation to sex and gender identity and concerned the male (XY) or female (XX) chromosome pairs. This subcategory includes articles that discussed transsexuality or inter-sex disorders and ‘genetic identity’ in this context was used to indicate the ‘biological’ gender. This subcategory relates ‘genetic identity’ to the male or female identity.

In its sentencing judgment, the court set a requirement for Alkobi and others like him to declare at a certain point their ‘biological-genetic identity’ and to reveal the fact that they are ‘male’ or ‘female’ in the narrow sense currently accepted in society [45].

Critiques of genetic determinism or essentialism (B5).

Explicit criticism of the term ‘genetic identity’ and value judgments associated with the term were also encountered in the reviewed literature. This subcategory includes terms like genetic determinism, genetic essentialism, genism and ‘true’ identity. Articles in this subcategory described the dangers of overemphasizing one’s ‘genetic identity’ (leading to the loss of the functional family, genetic discrimination, loss of autonomy in genetic testing or reproductive choices) and stress a person is more than the sum of his or her genes. Authors often referred to differences between identical twins to illustrate their point and most expressed concern about the ease with which complex traits are increasingly attributed to genetics. Some authors described the dangers of overemphasizing one’s ‘genetic identity’ by referring to Gattaca, a 1997 film portraying a dystopic society driven by eugenics [46–48].

These are all illusions of genetic identity, based on extreme genetic determinism, and indeed should be a priori condemned and never permitted. First, because it is not true that two individuals with the same genetic make-up (twins) would have identical lives and behavior [49].

The interest in genetic identity includes a preoccupation with biological determinism. Among the traits attributed to genetics are mental illness, homosexuality, aggressive personality, dangerousness, job and educational success, exhibitionism, the tendency to commit arson, stress, risk-taking, shyness, social potency, traditionalism, and even zest for life. These complex conditions frequently are described as directly inherited, as if they were single-gene disorders [50].

External or environmental influences (B6).

Closely related to the above subcategory is the relation between ‘genetic identity’ and environmental contributions to one’s identity and phenotype. Some articles in this subcategory described (phenotypic) differences in genetically identical twins that could not be explained by their ‘genetic identity’. Also included in this subcategory were articles that described contributions by epigenetics, heritable phenotype changes that do not involve changes in DNA sequence [51]. This subcategory illustrates the relative significance of ‘genetic identity’ in relation to other contributions to identity and phenotype.

From the moment the organism's growth begins, differences in environmental factors will cause phenotypic divergence. (…) Further, even copies which received relatively similar intrauterine treatment may be subjected to different environmental conditions (nutrition, exercise, rest, etc.) after birth. Thus, initially identical genetic identity may nonetheless result in different phenotypic development [52].

Epigenetics does not displace the chromosome as the primary mechanism of biological inheritance. It does, however, challenge genetic determinism and the dichotomy between genes and environment. In the context of pregnancy and gestation, it challenges the dichotomy between form and matter, between genetic identity and the supportive environment of the womb [53].

Human identity (B7).

The last subcategory within the personal identity category concerns ‘genetic identity’ in relation to human species membership, often in discussion of the start of life and personhood (further discussed in category C), gene patenting (further discussed in category D) or possible effects on future human ‘genetic identity’ (also further discussed in category C). The relation between ‘genetic identity’ and human identity was described in somewhat different ways; definitions of ‘genetic identity’ in this subcategory include ‘determining one’s status as a member of the human family’ [54]; and something ‘at the core of each human being which reflects our overwhelming similarities, and distinguishes us (human earthlings) from other earthlings’ [55]; Other authors rather stated that human identity and ‘genetic identity’ couldn’t be equated. Although articles in this subcategory all connected ‘genetic identity’ with humanness or human identity, the extent of this connection varied.

Though human identity is not equivalent to genetic identity (some sociobiologists might differ on this point), the entire human genome encroaches far enough on fundamental human identity to make it unethical to patent, Brody contends. Patenting parts of the genome (genes or shorter DNA sequences) would remain under consideration, though. [56].

Uniqueness and autonomy (C1).

This subcategory includes articles describing certain rights; the right to genetic uniqueness (a unique ‘genetic identity’), the right to a random ‘genetic identity’ (instead of something predetermined), the right to a non-manipulated ‘genetic identity’ and the right to individual modification. The right to know your ‘genetic identity’ in relation to parentage has already been discussed in the ancestry and heritage category (category A). Autonomy and freedom were most frequently discussed in relation to cloning and genetic modification. Authors usually asserted that one should be in control over one’s own ‘genetic identity’ and discussed the threats of cloning to autonomy and freedom. Some authors claimed that a unique ‘genetic identity’ is a right, whereas others refer to identical twins to deny this right exists and claim genetic uniqueness and individuality are two distinct concepts that should not be equated. Some authors argued that one has a right to a non-manipulated ‘genetic identity’ whereas others stated autonomy over ‘genetic identity’ includes a right to modification. In this subcategory, the various uses of ‘genetic identity’ in reference to autonomy and freedom contained many different rights and freedoms, both including the right to a non-manipulated ‘genetic identity’ and the right to genetic modification, particularly in relation to severe genetic disorders.

In addition, cloning is viewed as illicit because it ‘would impose on the resulting individual a predetermined genetic identity, subjecting him—as has been stated—to a form of biological slavery, from which it would be difficult to free himself’ [57].

Genetic identity is often confused with genetic uniqueness (the right to an exclusive genome). Genetic uniqueness cannot be a fundamental or basic human right because of the frequency with which it is violated without any harmful effects by the existence of monozygotic twins [23].

Years ago, the European Community appropriately included the right to a non-manipulated genetic identity in the list of civil rights [58].

The right to genetic identity, therefore, should both foresee the integrity but also the changeability of one’s genetic architecture: the right to personal identity may perfectly encompass the right to individual genetic modification [59].

Beginning of life (C2).

Articles in this subcategory discussed the significance of ‘genetic identity’ in determining when life (individuality or personhood) begins, and whether this was relevant for the protection of the embryo, often in the context of abortion or embryo research. A frequently quoted legal case from the USA is the Supreme Court landmark decision in Roe v. Wade from 1973. In this decision ‘genetic identity’ was not deemed sufficient to (legally) recognize the embryo as person. Some authors also mentioned German Constitutional Court abortion decisions. In these decisions, the first determination of ‘genetic identity’ was not discussed. However, the term was used as one criteria, in combination with others, to judge when an embryo was (legally) considered a person and therefore deemed protectable. They placed an emphasis on implantation and the formation of the primitive streak as the beginning of a life capable of protection, as opposed to the construction of ‘genetic identity’ at conception, which is also reflected in several moral-religious judgments on the subject. Most authors agreed that ‘genetic identity’ was first established at conception, although some stress that this is a process rather than a fixed moment. The articles in this subgroup used the term ‘genetic identity’ to refer to the combination of a sperm and ovum into stable chromosomes forming a new and distinct genome and they show a more or less uniform view of when ‘genetic identity’ is first established (at conception). However, this subcategory shows varied importance given to the term in relation to the beginning of life and the protectability of the unborn.

In Roe, the Court espoused the view that the unborn offspring of human parents, a human fetus, must be capable of ‘meaningful life’ outside the womb before he or she can be can be considered as having anything more than the ‘potential’ for human life. Genetic identity is, under this formulation, irrelevant, except to determine ‘potential’ for human life [60].

In its abortion decisions the Bundesverfassungsgericht skillfully avoided the question of when life begins, however it did emphasize that at least from the time of implantation there could be an individual, no longer divisible, life with its own genetic identity and that from this point the entity could be protected by both Article1 I GG and Article 2 II GG [61].

Fertilization marks genetic identity. Implantation, however, marks the development of biologic individuality, as well as the first emergence of the rudiments of the nervous system [62].

But it is clear that genetic identity is not necessarily fixed by the mere penetration of a single sperm, because more than one may enter, and because even then some genetic material may be rejected. In fact, it is only at the completion of the process of fertilization with syngamy, that is, when the genetic material of the sperm and the egg have condensed into chromosomes to form a new genotype–a single cell- that genetic uniqueness can possibly be fixed [63].

Modification, alteration or selection (C3).

This sub-category includes topics like cloning, gene therapy, genetic modification and pre-implantation diagnostics. Authors described the risks and consequences of these techniques and sometimes weighted these against possible benefits. As for cloning, risks frequently mentioned included threats to dignity, threats to autonomy and individuality and disturbed familial relationships. Threats to dignity were often described from a religious perspective and were combined with the need for genetic uniqueness and individuality. As for genetic modification, risks most frequently mentioned included effects on future generations, ‘designer children’, commodification of ‘genetic identity’ (further discussed in category D) and new forms of liability. The most often encountered benefit of these techniques was the treatment of serious diseases. This subcategory describes the modification or selection of a ‘genetic identity’ and its effects, both in relation to the individual and of the human population as a whole.

The natural genetic identity of the prenatal child may become important in the future. By manipulation of the biological makeup of the prenatal child, it may be possible to increase or decrease intelligence, to correct physical defects, or to produce those characteristics needed for strenuous or unique physical activity such as sports or space travel. While the failure to provide the child with superior biological equipment may not give rise to a new variation of the wrongful life type of litigation, the use of such techniques may create substantial risk of negligence or disastrous injury during the experimental stages [64].

However, the fear that gene therapy may have some impact on the genetic identity of the human species must be weighed against the benefit of providing treatment for common and catastrophic diseases [65].

Identification and the protection of genetic information (D1).

‘Genetic identity’ was frequently used as an identifier in combination with the identification of a suspect in forensics or in combination with paternity testing. The term was used in reference to the need for privacy and protection of genetic information, for example in relation to DNA databanks, and protection from discrimination. Definitions of ‘genetic identity’ in this subcategory include something ‘used to identify the relevant person’ [66]; and something that ‘concerns identification (idem identity)’ [67]. The extent to which ‘genetic identity’ was considered proof of identity differed throughout the reviewed literature.

Instead, as a symptom of biology, relatives and future generations risk being stigmatized for their mere genetic similarity to a previously convicted defendant. Assuming possible criminality based on genetic identity replaces the wrongdoing requirement with what might be described as wrongbeing [68].

Even with the present technology, however, the donor has an interest in the content of the DNA analysis because DNA test results provide evidence of identity [69].

The proposed legislation seems to be based on the assumption that the ‘gene is the person’, that is, constitutive of genetic integrity while legislation on DNA forensics by the state relies on the myth that ‘gene denotes genetic identity’ [70].

Durability of ‘genetic identity’ (D2).

In a few articles, emphasis was placed on the durability of ‘genetic identity’. Articles in this subcategory all included the use of ‘genetic identity’ in DNA analysis, however some warned that the durability of genetic material might provide a false sense of reliability if little is known about the processing and storage of DNA in forensic cases.

DNA, for example, appears to be everlasting and immutable. But the durability of genetic identity supplies no confirmation that any particular DNA introduced at trial has been appropriately collected, analyzed, and preserved, nor whether the testimony regarding the DNA ‘match’ will be truthful or accurate [71].

Ownership of genetic identity and the commercialization of genetic information (D3).

This subcategory mostly comprises articles describing the risks of ‘genetic identity’ theft and articles discussing the patenting of genes and ‘genetic identity’. Other articles discussed the commodification or commercialization of genetic information. All articles in this subcategory discussed ‘genetic identity’ in reference to property rights, however the desirability of property rights of genetic material and identity is valued differently in the reviewed literature.

If a person does not own his genetic material, he can neither own nor protect his genetic identity, thus leaving it in peril indefinitely. If no one owns something, then, by legal definition, no one can be guilty of stealing it. How can we best protect our genetic identity? The only way to protect genetic identity from theft is to create a legal property right in the genetic information that secures this identity [72].

In her construction of genetic identity, ownership is resisted not only in the name of the human subjects who supply the genetic material but also in the name of all generations, past and future, who are implicated, and hence somehow present in the germline [73].

Judge Sweet’s trepidations mirror the public’s concerns about the gene-patent debate. The plaintiffs’ legal challenges to the BRCA patents raise a difficult legal and ethical dilemma: should information about an individual’s personal genetic identity be protectable as intellectual property for the purpose of promoting scientific innovation [74]?

Cells and genes (Category F).

In this category ‘genetic identity’ was mentioned in relation to specific human cells, genes or cell lines, mostly in articles from medicine or the life science (Fig 3). This category includes healthy and or diseased cells, enzymes, specific loci or defected genes. Definitions include the ‘promoter region of an endogenous gene that defines a neuronal subtype’ [81]; and ‘specific chromosome changes and by molecular changes related to the chromosome anomalies’ [82]. In the other articles in this category, the term ‘genetic identity’ was used but not further explained.