Edited by: Go Yoshizawa, Osaka University, Japan
Reviewed by: Aurélie Mahalatchimy, University of Sussex, UK; Danya Vears, KU Leuven, Belgium
Specialty section: This article was submitted to ELSI in Science and Genetics, a section of the journal Frontiers in Sociology
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The acquisition of genetic information (GI) confronts both the affected individuals and healthcare providers with difficult, ambivalent decisions. Genetic responsibility (GR) has become a key concept in both ethical and socioempirical literature addressing how and by whom decision-making with respect to the morality of GI is approached. However, despite its prominence, the precise meaning of the concept of GR remains vague. Therefore, we conducted a systematic literature review on the usage of the concept of GR in qualitative, socioempirical studies, to identify the main interpretations and to provide conceptual clarification. The review identified 75 studies with primarily an Anglo-American setting. The studies focused on several agents: the individual, the family, the parent, the healthcare professional, and the institution and refer to the concept of GR on the basis of either a rational/principle-oriented approach or an affective/relational approach. A subtype of the rational/principle-oriented approach is the reactive approach. The review shows how the concept of GR is useful for analyzing and theorizing about socioempirical findings within qualitative socioempirical studies and also reveals conceptual deficits in terms of insufficient theoretical accuracy and heterogeneity, and in the rarity of reflection on cultural variance. The vagueness and multiplicity of meanings for GR in socioempirical studies can be avoided by more normative-theoretical explication of the underlying premises. This would provide a higher degree of differentiation of empirical findings. Thereby, the complex findings associated with the individual and social implications of genetic testing in empirical studies can be better addressed from a theoretical point of view and can subsequently have a stronger impact on normative and policy debates.
In the past 30 years, the technical possibilities for producing risk information in genetics have increased substantially and quantitatively. From visual chromosome analysis of aberrations (e.g., for Down syndrome) to more advanced testing for rare genetic disorders based on polymerase chain reaction, next-generation sequencing, genome-wide association studies, and “personalized” medical treatments, the field of predictive medical genetics has grown dramatically. However, skepticism about the consequences of using genetic information (GI)
These questions counter the optimistic opinions of some moral philosophers (Harris,
Apart from the rhetoric of choice, another moral concept has shaped the debate on genetic testing (GT) since the 1970s: that of “responsibility” or, more concretely, “genetic responsibility” (GR). The latter term was coined by Lipkin and Rowley (
The widespread usage of the term GR and the related notion of “responsibilization” in health care is often related to the sociopolitical paradigm of invoking individual responsibility and the citizen’s need to take actions for health risks instead of promoting collective or state solutions to handle those risks. From a theoretical point of view, this is a very intriguing phenomenon because, in bioethics, “responsibility” has so many conceptual and historical meanings [for an overview, cf. Schicktanz and Schweda (
The objectives of this review were threefold. First, we aimed to summarize and analyze how existing qualitative studies have applied, described, and theorized about the notion of GR; for this, we used a general philosophical notion of responsibility as a theoretical premise to detect references to GR in the material. Second, we aimed to provide a classification of approaches to the concept of GR and to analyze similarities and variances within this classification. We based our classification on a philosophically informed structure that addressed the main agents and contexts of GT and GI. Third, we aimed to discuss important inconsistencies in the literature on GR and, to promote a closer interaction between empirical medical sociology and bioethics, to make suggestions for overcoming this inconsistent terminology.
For the purposes of this systematic review, we have used a general, meta-ethical framework of responsibility that captures the various local and contextual conceptual meanings of “responsibility” (Schicktanz and Schweda,
Overall, the concept of responsibility can be seen as involving seven
We expected that the current literature on GT would show aspects of all seven dimensions of responsibility. At the same time, we did not assume that the colloquial concept of GR in empirical studies would encompass all of these dimensions at once.
This formula enabled us to structure the variety of concepts associated with GR found in the material and to distinguish the usages of GR along such dimensions as “agent,” “object,” “norm,” “consequences,” etc., if applicable.
The literature search was performed in January 2016 in the PubMed and Web of Science databases to include all articles published in English and German
We compiled a comprehensive corpus of literature in which both “genetic risk”
We also included related articles from the gray literature where “responsibility” was only indirectly addressed
Thematically, we excluded papers that focused on (a) genetic ancestry testing; (b) GT of non-human animals; (c) the efficient administration of genetic screening programs; (d) storage of genetic material in the laboratory; (e) the biotechnical function of genetic tests; (f) insurance procedures to assess genetic risk; (g) the construction of scientific entities such as the concept of the “gene”; (h) genetic discrimination, in cases where there was no obvious relation with GR; (i) national and international legal regulations on the management of GI; (j) responsibility of healthcare professionals, if there was no explicit reference to the management of GI; (k) responsibility of researchers working on the Human Genome Project and on whole-genome sequencing; and (l) prenatal or pre-implantation testing if GT or GI was not mentioned.
A total of 228 duplicates were removed from the corpus. The selection criteria were applied by assessing each remaining paper after reading the title, abstract, and keywords. At least two researchers (Jon Leefmann and Manuel Schaper/Silke Schicktanz) assessed the papers independently. If a decision could not be made on this basis, the whole paper was read and a consensus was sought. With regard to our aim of reviewing the conceptual uses of GR in qualitative studies, our assessment of the robustness of the evidence drawn from the studies did not consider criteria such as representativeness of the included studies as central. Instead, we excluded qualitative studies only if their methodology was missing or if the paper used qualitative data only anecdotally. Application of these selection criteria yielded a total of 353 publications.
We then divided the publications into empirical studies and non-empirical papers reflecting on ethical, legal, and social aspects of the new genetics for separate analysis and later comparison. Non-empirical papers were excluded. Every paper reporting data acquisition and/or presenting methodologically sound data analysis (quantitative and qualitative) was considered as an empirical study. This criterion also applied to studies that drew on empirical data for ethical analysis or to theorize about social processes related to genetics (
From these 75 studies, all 3 authors independently collected data on the size of the data sample, country of origin, study design (type of data acquisition and method of analysis), research topic, and the following outcome measures: medical genetic context, agents of responsible behavior, objects of responsible behavior, norms of responsibility, potential conflicts of responsibility norms, definition of responsibility, and purpose of conceptual use (cf. Table 1 in Supplementary Material).
We have used a descriptive approach to the literature corpus (part 1) and a narrative synthesis approach (part 2). In part 1, we used the criteria commonly used in the PRISMA protocol for systematic reviews, as applicable to the qualitative data (Liberati et al.,
The sample sizes and methodology of most of the studies (cf. Section “
Among the reviewed studies, only three appeared in edited volumes. The remaining 72 studies appeared in 31 distinct journals from different subfields of the social and the medical sciences (all journals are listed in the Data Sheet 1). The most frequent journals in our corpus were
Even though the use of GR as a theoretical concept dates back at least to the 1974 anthology by Lipkin and Rowley (
Of the 75 qualitative studies included, 59 used semistructured interviews for data acquisition (cf. Table 1 in Supplementary Material). In five studies, semistructured interviews were combined with focus groups or questionnaires, and eight studies used focus groups for data collection. In one case, (video) recorded counseling sessions were analyzed. Other methods included ethnographic field work (
The material displayed a highly unequal distribution of studies from different countries (cf. Figure
A total of 35 different genetic conditions were mentioned in the material, 13 of them as part of broader nosological categories such as muscular dystrophy or cardiomyopathy (for details, cf. Data Sheet 1). These 35 conditions included monogenetic diseases such as Huntington’s disease (HD) or cystic fibrosis (CF), as well as multifactorial conditions and disorders such as hypercholesterolemia, obesity, or arhythmogenic right ventricular cardiomyopathy (ARVC) (cf. Table 1 in Supplementary Material). The most frequent genetic conditions discussed were hereditary breast/ovarian cancer (HBOC) (
In this section, we flashed out a detailed analysis of the concepts of GR occurring in the identified literature corpus and the use of these concepts for interpreting or theorizing about empirical findings. In the first step, we analyzed the moral approach to GR in our literature corpus. It is important to stress that these approaches were obtained from the examined material by an inductive process (see
All 75 included studies shared the basic assumption that the knowledge derived from GT opened up a new space for action for the individuals or entities involved, including any affected person involved in the process such as partners, children, siblings, parents, and other family members, and also stakeholders such as healthcare professionals or insurance companies. Depending on the accuracy and reliability of the respective genetic test, these agents were confronted with probabilistic risk information about possible future events, over which they might or might not be able to exert control.
The examined studies assumed that managing and handling this information could be socially or morally problematic on different levels, in different respects, and for different stakeholders. In all studies, the decision to undertake GT and to act on the basis of the test result took place in a moral and social framework of norms and expectations. These norms shaped the terrain of the morally accepted or non-accepted actions. What counted as responsible behavior in the context of GT was framed by socially negotiated norms not only between health professionals and laypeople but also within families.
The guiding moral principles underlying these norms included “respect for autonomy” and “the obligation not to cause harm.” Both principles were expected to hold for any person involved in the handling of GI regardless of their role as the affected individual, a relative, or a healthcare professional. However, these principles were frequently ambivalent and conflicting in the context of GT, as their appropriate realization varied with the genetic disorder under investigation and the specific intrafamilial relationships of the affected people (cf. Table 1 in Supplementary Material).
Ethical conflicts often discussed included the question of whether a duty to warn people at risk existed, and whether and when this duty could override the principle of respect for autonomy. Does one have a right not to know about one’s genetic risk, if accurate risk information is available and could be used to prevent future harm? In a similar vein, questions about not harming at-risk people arose. Does sharing information increase autonomy or cause harm because it induces risks of social or psychological harm? Hallowell et al. (
How the affected individuals or those at risk could or actually did make a responsible decision based on the conflicting principles of respect for autonomy and not harming others was the main concern of all 75 studies. This question of responsible conduct was, however, addressed from various points of view. The underlying social relationship was approached in different ways: some studies, for instance, looked at these ethical conflicts from a gender perspective (Hallowell,
The material displayed two moral approaches to GR. Although they were not mutually exclusive, their focus differed in the way the moral quality of responsibility was interpreted. Some studies understood taking responsibility as the reaction of an autonomous agent in rationally guiding her behavior toward herself and others according to formal, universal moral norms. This involved taking a detached, reflective attitude toward the interests and moral requirements affected by a specific course of action (a
Interestingly, this difference resembles a classical distinction introduced by moral psychologists in the 1960s and 1970s to explain moral development (Kohlberg et al.,
The basic rational/principle-oriented approach defined GR as “an integral factor in influencing an individuals’ desire whether to know and to act on the knowledge of their genetic risk, obligation of disclosure, reproductive decision-making, and genetic testing decisions” (Ross,
Notably, there was a subtype in the rational/principle-oriented approach to GR in the material, which primarily prevailed in the work of Arribas-Ayllon et al. This concept of GR, which we have described as “reactive,” should perhaps be conceived of as a “discoursal articulation [of a macro-political concept] in the research interview setting” (Arribas-Ayllon et al.,
The understanding of GR as an affective/relational responsibility was in opposition to these two rationalistic concepts and drew on the social identities of the affected or at-risk people, taking place in the close relationships that were shaped by strong emotions such as love and personal trust. Nonetheless, this can be still understood as a moral responsibility, but one which mainly occurs in close relationships such as families. Burgess and d’Agincourt-Canning (
This affective/relational understanding is important to the extent that people factually often
Thematic, narrative analysis of the corpus allowed us to detect four major categories of studies that differed with regard to the type of agent of responsibility. This distinction reflects the finding that conceptualizations of GR generally differed primarily with respect to the agents and objects of responsibility. The agents of responsibility are those who make decisions related to GI and act upon them by targeting an object, i.e., themselves or another person (cf. Part 1: General Description of the Literature Corpus)]. We have classified the literature corpus into
studies focusing on the responsibility for action based on knowledge of one’s own genetic condition; studies addressing the responsibilities of (potentially) affected people in the context of family; studies focusing on the responsibilities of healthcare professionals in genetic clinics and laboratories; and studies focusing on the responsibilities of institutions such as health insurance companies and the state.
In the 62 studies classified as (A) or (B), the agents were the affected or at-risk individuals. By affected we mean that they wanted to undergo or had already undergone GT for themselves to learn about their genetic conditions and/or were seeking information about the genetic risks of their (unborn) children. Some studies reflected explicitly how GI has sparked a new form of “being affected”
The studies revealed a broad spectrum of agents as the objects of responsibility, ranging from the individual him/herself to the offspring of the individual, a distant relative and society at large. Studies in which the agent (the acting person) and the object of responsibility were identical (“self-responsibility”) (
In the 11 studies comprising group C, the agents were healthcare professionals working in the context of GT: genetic counselors, physicians, nurses or geneticists, and laboratory workers performing genetic tests. In group D, only two cases, institutions such as a state legislative (Bickerstaff et al.,
In all thematic categories, usage of the rational/principle-oriented or affective/relational concepts of GR was identified (see also Figure
An affected or at-risk person, who is acting in favor of their own health interests by taking knowledge of their own genetic condition as a reason, can be described as displaying GR for agency. This form of GR represents a rather general approach to responsibility in the context of the “new genetics.” Although it is frequently evoked in theoretical approaches to GR (Fletcher,
Framed by a genetic condition, GI is construed as an appeal. The subject is called upon—be it internally by her conscience or externally through social expectations—to acknowledge her genetic condition and to act on this knowledge. However, given the huge gap between prediction and diagnosis on the one side and therapy or effective prevention on the other, the meaning of being genetically responsible for agency is ambivalent. If the agent cannot control her genetic predispositions anyway, what does it mean for her to act responsibly with regard to her knowledge about these predispositions? Hence, acting includes forms of discursive strategies such as “blaming” or “actively ignoring” or practical strategies involving life-style changes, increased healthcare checks, or application of selective technologies such as abortion or embryo selection in cases of reproductive decision making.
Conceptualizations of GR centering around the pattern of “responsibility for agency” were used in the three studies to question whether and to which extent the perception of the ability to make decisions and to act changed with the accessibility of GI. They also pertained to the question of whether increasing knowledge of GI is perceived as a means for improving decision making or rather as a reason for fatalism with regard to one’s own future conditions (Shipman et al., Acknowledging an underlying genetic contribution to the susceptibility to weight gain by offering genetic testing may relieve some of the stigma, guilt and self-blame attached to problems with weight control. The ‘scientifically objective’ personal result appeared to enable some people to recognize that they are ‘battling against their biology.’ Viewing problems with eating behavior as a ‘condition’ and not a personal shortcoming appeared to increase confidence about managing and overcoming weight problems [Meisel and Wardle,
In contrast, another study found that, in cases of GT of tumor tissues for Lynch syndrome diagnostics, those affected did not reflect on (and often did not understand) the implications of the genetic knowledge that would come with testing (Shipman et al., Generalised responsibility is commonly other-oriented and involves strategies that excuse a lack of knowledge or understanding of tumor testing by reframing consent as a hypothetical moral orientation […], civic duty […], and ‘blanket consent’ […]. Strategies that performed diminished responsibility were self-oriented and justified a lack of knowledge about tumor testing and consent by downgrading its significance […] [Shipman et al.,
In the latter study (Shipman et al.,
Hence, the exceptional case of responsibility for agency encompasses both moral stances of GR. By focusing on strategies applied to deny responsibility for action rather than an opposing strategy, the study by Shipman et al. represents reactions toward a feeling of being called on to act by a very local social norm. The interviewee apparently felt an obligation to meet the expectation of the interviewer. This expectation, however, did not presuppose responsibility for a general and widely accepted social norm such as “health maintenance is the responsibility of the individual,” but the assumption that GT results represent an important moral issue for concern and reflection. This shows that the normative uses of the term GR are independent of its agents and that a person can be understood to be self-responsible in a rational/principle-oriented sense and in a reactive sense.
Both approaches have in common that the primary focus was the subject’s capacity to act and choose for herself. This was highlighted in a focus group study (Kerr et al.,
In summary, evoking self-responsibility by GI is yet a rarely addressed topic in qualitative studies, but occurs in contexts of where the lifestyle of an individual is already socially accepted as causality for bad health.
The thematic framework of GR in the context of the family differed from the previous framework with regard to the objects and norms of responsible behavior. Here, the self was only one possible object of responsibility,
Studies in group B1 referred to both rational/principle-oriented and affective/relational approaches to GR. The studies related to the experiences of the participants on receiving test results and the ways in which receiving the GI affected the perceived responsibilities of those interviewed toward others and their reliance on moral and local social norms.
In the rational/principle-oriented approach (code B1a), GR was associated with familiar moral norms such as not harming one’s children or society’s “gene pool,” and the need to comply with these norms or the failure to do so was framed as a burden in these studies (Taylor,
In contrast to these prospective, future-oriented actions, GR for close others also occurred retrospectively in some studies (Bostrom and Ahlstrom,
The ways in which moral responsibilities to the family form the moral justifications of individuals seem, however, to vary depending on the disease context. Hallowell (
We found the use of affective/relational concepts of GR in only a small number of studies on decision-making processes ( Clinical guidelines for offering the genetic test for HD stress autonomy in decision-making, and genetic counseling embraces the principle of autonomy […]. Yet, narratives of constrained decisions make it difficult to maintain seriously that test decisions are purely rational—self-interested, self-directed, and proceeding in a cost-benefit analysis. Rather, test decisions are taken in the context of one’s family [Etchegary (
The obligations to others were perceived as inherent in one’s role in the family. d’Agincourt-Canning made this clear in a study investigating women’s decision-making procedures for undergoing GT for HBOC. Here, gender (among other features such as embodiment, family relationships, and civic self-understanding) intersected with social obligations insofar as being a gendered person implies specific role-related responsibilities for the well-being and health of the kin (d’Agincourt-Canning,
Similar considerations were also raised by Raz et al. (
In sum, a common understanding of hereditary conditions provokes a meaning of GR as family decision making and by this enlarges the radius of action from the individual to his/her family.
Generally, explicit notions of GR in the context of family communication and disclosure occurred frequently in the qualitative literature ( Taking responsibility for transmitting information implies acting responsibly towards fellow family members. To act responsibly is to assess the potential consequence of sharing or withholding information and is embedded in a moral economy consisting of (mutual) assessments of competence and maturity, as exemplified by the deliberative communication strategy. Communication of genetic risk information is the result of intricate, existing ties of differing strengths [Gaff et al. (
In line with this definition, studies in the B2 group frequently investigated the different strategies of communicating, transmitting, and managing genetic risk information in a very close social context.
In the given context of disclosure, GR was predominantly construed as a form of affective/relational responsibility (
The affective/relational approach to GR first appeared in studies with a feminist theoretical background that focused on women at risk for HBOC. However, studies using other theoretical backgrounds, such as the sociology of science (Felt and Müller, All ‘committed’ family groups described their primary motivations for testing as arising from an obligation to others, while also acknowledging some, but less strong, motivations to be tested for their own benefit. […]. This obligation to others can be considered in terms of genetic responsibility: to do what is morally right for the family [Dancyger et al. (
Some studies considered familial roles other than that of women managing health in the family, such as those of male partners and fathers (Hallowell et al.,
The application of an affective/relational approach to GR in the disclosure context also involved the description of constraints and facilitators with respect to family communication. Several studies stressed that transmission of genetic risk information depends on a variety of individual, social, and situational factors (Forrest et al.,
Besides gender and family roles (i.e., being a woman, being a parent, being part of the nuclear family) (d’Agincourt-Canning,
In some contexts, biological kinship can make a difference to the approach to responsibility with respect to disclosure. For example, a Turkish study by Akpinar and Ersoy (
A notable exception to this seeming pervasiveness of the affective/relational approach to GR was seen in a study by Weiner (
The standard subtype of the rational/principle-oriented approach to GR was referred to when non-disclosure of genetic risk was discussed as a problem resulting from conflict between moral norms. Here, the conflicting norms were again “respect for autonomy” vs. “the obligation not to harm.” Respect for autonomy justified non-disclosure if the recipient did not want to know his genetic status. The “do-no-harm” principle was mostly used to justify an obligation to disclose GI in order to allow the recipients of the information to take action to prevent possible future harm caused by their genetic condition. It was, however, also used as an argument against disclosure, if the tested person concluded that the recipient needed to be protected from information with which she would be psychologically incapable of coping.
An early study adopting a standard view of rational/principle-oriented responsibility based on the ethical dilemma between respect for one’s own interests and the no-harm principle was carried out by Hallowell (
Finally, four studies (Hallowell et al.,
[…] not speaking or sharing the truth of genetic risk is itself a form of expression not captured by structures of signification. Nevertheless, non-disclosure warrants an account because our participants implicitly recognised that they live in a moral order where genetic risk should be communicated to kin. And yet, the explanations they gave for this were redundant forms of moral communication (that is, post-hoc justifications and excuses). […] we suggest that people resist the onerous obligation of managing genetic risk and disclosing bad news to kin to escape the moral/discursive confinement of autonomy [Arribas-Ayllon et al. (
Overall, disclosure was not solely seen as an implication of GR. Some cases also revealed a complex form of non-disclosure as a
Some studies ( Interestingly, some parents felt identification of the causative gene meant the responsibility of passing on the epilepsy had been removed. Yet other parents were grateful the genetic information had not been available when they were having children, removing the need for decision-making in family planning […]. Feelings of ‘genetic responsibility’ were expressed by some of our participants, who described a desire to prevent epilepsy in future generations […]. Some family members were apprehensive for those who had had children despite the risk of passing on epilepsy [Vears et al. (
Other studies noted a conflict between self-responsibility for health and the responsibility to disclose genetic risk to the next of kin. While in Western societies the individual is considered obliged to make decisions with regard to her body and health—such as the decision to undergo GT or not, knowing one’s genetic status is perceived as implying the responsibility for disclosing genetic risk information to prevent potential harm to others. In a comparative analysis of affected individuals’ and laypeople’s attitudes toward GT in Israel and Germany (Raz and Schicktanz, The moral conflict was described as consisting of, on the one hand, the moral responsibility towards kin, but on the other hand the recognition that how to handle such information is a genuinely individual decision – especially about health and the body, which everybody has to care for on their own [Raz and Schicktanz (
However, depending on the disease context, the decision to have GT did not necessarily conflict with the responsibility for disclosing the genetic risk. As Dancyger et al. (
This mother clearly expressed a rational/principle-oriented approach to the responsibility to have GT and to disclose the test result, motivated by her perceived obligation to reduce harm for her daughters. At the same time, one might argue that she disrespected her daughters’ right to decide whether they wanted to know this information. Responsibility for others played a significant role in the motivation to have GT, especially for preventable or treatable diseases. In particular, if the testees were already affected by the disease, the decision to have a test to determine whether the disease was heritable was shaped by the expectation that the result would be disclosed to help the next of kin. As Etchegary et al. ( Study participants described their responsibility to their families particularly children to provide risk information that could be used in cancer-risk management decisions. […] Indeed, many suggested the primary motivation for testing was for relatives, more than for themselves [Etchegary et al. (
In contrast to the case in Dancyger et al. (
It was an important point of many qualitative studies on GT that local, affective/relational responsibilities undermined the picture of the autonomous agent underlying the ethical principles prevailing in counseling guidelines for GT (Hallowell et al.,
From an intercultural perspective, few studies reported differences in the responsibilities perceived between different Western societies (Raz and Schicktanz,
In sum, moral conflicts occurred regularly on two levels of decision making: first whether and when to make a GT and afterward, whether and when to disclose/not to disclose the results of such a GT within the family.
Studies discussing GR mainly in the context of reproduction involved GT for hereditary diseases of the fetus or embryo, carrier testing, and prenatal blood screening for genetic anomalies of the fetus. The concept of GR in this respect differed from the situations above in that it focused neither on the self-agency nor on communication, but on the decision to have children or the decision to have GT during pregnancy or to select embryos by preimplantation genetic diagnosis before the pregnancy. Importantly, the studies in our data set differed significantly from the theoretical approach to reproductive GR of the 1970 s and classical eugenics (Lipkin and Rowley,
As Hoeltje and Liebsch (
Therefore, the studies focused on private reproductive decisions, which were guided by different individual norms. The decisions and actions described were more negative-selective (e.g., deciding for abortion or for relinquishment) than positive-selective (e.g., actively choosing one’s children’s genetic make-up). Some studies examined explicitly how these private decisions by the parents were influenced indirectly by public discourse and not—as in the case of classic eugenics—explicitly enforced by state authorities (Boardman,
The studies in the field of reproductive GR fell into two subcategories: studies focusing on the process of making a decision about having a child if the risk of having a baby with a genetic disease was considerable (
Similar to the context of disclosing genetic risk in the family, some studies focused on a rational/principle-oriented approach to responsibility (
The focus on GR in the rational/principle-oriented approach might have been invoked by the fact that, in many studies, parents or affected persons were interviewed about the hypothetical or rather abstract scenario of whether to test for a genetic disorder. This was ‘hypothetical’ insofar as most studies were not conducted within the setting for prenatal testing, but approached the affected people long before or after they made their reproductive decision. Two interview studies in the context of BRCA mutation revealed ‘a dual dimension’ to how women perceived it to be a moral dilemma when they were to be tested for their own health, but anticipated in advance that a positive result might negatively impact on their reproductive decisions later (Dekeuwer and Bateman,
The affective/relational approach to GR was, instead, one of the main motives in studies focusing on gender issues. Reed (
In summary, GR in the context of reproduction did not provide a simplistic model of eugenic attempts, but implied a complex process of moral interpretation and justification. Furthermore, the review has revealed that GR is associated with different outcomes of decisions, including opposing ones. However, only a few studies comprehensively explained their conceptual understanding of terms such as responsibility or GR (Downing,
In the studies in group C, physicians, nurses, geneticists, and laboratory workers associated with performing the genetic tests were the agents of GR. These studies primarily investigated the roles and obligations of healthcare professionals in GT in general, as well as the obligations of genetic counselors to patients and their families. The norms of responsible behavior included respect for the autonomy of the counselee (expressed in an appeal not to direct their decision), the obligation to secure informed consent, and a duty to prevent harm to the counselee’s family members (sometimes against the will of the counselee). There were three subtypes in group C. Subgroup C1 comprised studies that investigated professional GR by directly drawing on the views of healthcare professionals about their daily work and practice in genetic counseling or GT (
The studies often took ethical dilemmas as a starting point to discuss professional responsibilities. In subgroup C1, professional GR was primarily construed as a form of rational/principle-oriented responsibility. With respect to the management of the uncertainties implied in genetic test results, genetic counselors saw it as their responsibility to secure informed consent by providing as much relevant, balanced information as possible (Arribas-Ayllon et al.,
Other responsibilities of healthcare professionals were more context dependent. Studies mentioned that healthcare professionals involved in genetics/genomics were also aware of being responsible for providing psychosocial support to patients (Hines et al.,
Studies in subgroup C2 reported that, from the perspective of the counselees, the professional responsibilities of the genetic counselors and physicians sometimes extended further than believed by the genetic counselors and physicians themselves. For example, Haga et al. (
These expectations also indicate that professional GR is a form of rational/principle-oriented responsibility, because the underlying norm to which professionals are expected to conform is the protection of the patient’s autonomy and action with their consent. Patients expected to make their own choices but also expected professionals to disclose any GI that might be relevant for their decisions about how to act.
Two studies in subgroup C3 focused on the GR of professionals in relation to (novel) legal regulations associated with genetic counseling. A French study (D’Audiffret Van Haecke and de Montgolfier, We are at the crux of a debate opposing individual and collective responsibility, with the healthcare professional—as actor in disease prevention and in matters of public health—at the center, caught in the crossfire between acting in the interests of the general population and acting in the interests of their patient and family [D’Audiffret Van Haecke and de Montgolfier (
To handle this conflict, genetic counselors applied different strategies resulting in different outcomes with respect to their moral obligations. For example, in the same study, genetic counselors “recognize that the law gives them something to fall back on in ‘those rare cases’ where patients refuse to warn at-risk relatives (I1), to ‘counter refusals when the reasons are as much to do with family feuds, geographic separation, or fear of genetics and the allied denial as anything else’ (I7)” [D’Audiffret Van Haecke and de Montgolfier (
Non-performance of professional GR was also an important issue in an Austrian study, which found that reference to legal regulations or to the medical code of conduct served as a rhetorical strategy for genetic professionals to repudiate GR in ethical dilemmas (Wieser, The interviewees [medical geneticists] repeatedly drew on the law in order to convince the interviewer that ethical issues of genetic medicine were sufficiently cared for. […] Essentially, in such a way the interviewed medical experts provided answers with reduced accountability [Wieser (
The only example of an affective/relational approach to GR was provided by a study focusing on a paradigm shift with respect to genetic counseling (Bogner,
In summary, professional GR was discussed mainly as community skill- and capacity-based awareness of professionals to be sensitive to the various moral dimensions and conflicts. It is embedded in a general understanding of an asymmetric professional-lay relationship where the asymmetry relies not only to factual knowledge but also to the social implications of sharing GI later on.
Only two papers (code D) discussed the GR of institutions (van Hoyweghen et al.,
Bickerstaff et al. (
Both papers framed the GR of institutions as a rational/principle-oriented concept, since the agents were able to take on rational responsibility, basing their duty on their unique role as a factual authority that was trusted to fulfill its protective role toward individuals or society. Overall, the role of institutions was rarely addressed, but the few studies revealed the need for more comprehensive understanding of collective actions and collective responsibility in relation to GI.
Our findings revealed that, in empirical-qualitative studies, GR was seen as a subspecies of responsibility that was biased toward certain relata and conceptual dimensions. The basis of the GR concept was primarily the prospective responsibility of affected or at-risk individuals to their family and next of kin (including potential future children) but was also, albeit to a far lesser extent, the responsibilities of genetic counselors and medical doctors. Institutional responsibilities have been relatively neglected. The focus of the papers was primarily on the individual in their close, personal social environment. A wider social or political perspective was only visible in rare cases, where GR occurred as retrospective responsibility in a ‘reactive’ manner. This seemed to be the only context in which social norms and expectations beyond the individual family appeared on the conceptual horizon. Interestingly, this individualistic form of GR that we found in the material confirmed a common pattern in the current sociological and bioethical discourse. The problem of how to use the increasing possibility of obtaining and managing GI has induced a shift in the medical sociological and bioethical literature on GT from an optimistic rhetoric of autonomy and choice toward a more pessimistic, critical approach. GR no longer only stands for the promotion of the well-being of future generations, but has more and more become a notion that reflects a major social trend toward a proliferation of responsibilities, amounting to a general responsibilization of the individual in questions of health. The term responsibilization describes the phenomenon of the increasing transfer of responsibility for handling health risks from collective or institutional agents to the individual. In health care especially, with the new technologies and means for control, new risks and possibilities for acting are developing. In the process of responsibilization, individual agents are becoming the carriers of these new responsibilities (Ter Meulen and Jotterand,
Our results indicated that, in the qualitative medical sociology literature, GR is a complex concept that is embedded in a web of dependencies, relationships, and expectations. GR can, hence, be approached from a variety of different angles. However, most studies in our corpus centered on the ascribed or projected responsibilities of at-risk or affected people and, therefore, favored a rather pragmatic approach to the ethics of GT. These responsibility ascriptions, however, varied in general terms along three major pathways.
First, there was a generalized assumption associated with GR that action should be taken with regard to the mere possibility of GI. These actions, however, should encompass various forms. Taking responsibility for one’s own health status seemed widely perceived as the responsibility of the affected individual, whereas the application of GT is continuously enlarging the spectrum of affected agents. Hence, the prospect of using GI to obtain guidance for individual health maintenance has created a space for self-directed action. Other-oriented blame and self-justification by affected individuals who did not disclose GI, as observed by some studies, can be interpreted as a reaction to this general feeling of being called to use the information for one’s own good, for the good of one’s kin, or even for society’s greater good. Because this responsibility is often not obvious or implicit, it was only very seldom directly revealed in interview studies but has instead appeared as part of the interpretation process. The apparent difficulties associated with showing this pervasive pattern directly by empirical investigation, however, lend doubt to the idea that an affected individual is able to consciously perceive these social constraints to their decision making or is aware of the social process of responsibilization.
Second, there were more mundane patterns to be seen in GR. We found both rational/principle-oriented and affective/relational approaches to GR in the context of the family with respect to GT. The quantitative prevalence of the affective/relational approach might be an effect of sociologists’ interest in social roles and their sensitivity to interpersonal dependencies, which can shape an agent’s responsibilities—a fact that is hardly discussed in bioethical or legal debates (Beier et al.,
As supported by philosophical-theoretical approaches to responsibility (Hart,
Third, the contexts of reproductive or institutional decision making were both susceptible to implied obligations to society—whether now or in the future. This is not surprising, given the historical legacy of traditional eugenics which proposed a benefit for future society based on austerity of the individual. However, it is striking that most Anglo-American studies circumvented the context of eugenics and only one German and one German-Israeli study referred to it explicitly.
Only a small number of studies construed GR as the responsibility of genetic professionals. This is striking for two reasons. First, professional GR was almost exclusively construed as a rational/principle-oriented responsibility based on concrete professional norms like securing informed consent, respecting the client’s autonomous decision making and preventing harm. However, studies on professional GR rarely investigated the concrete implementation of these norms, which would require methodological access to the practice and critical reflection on it, instead using observation and critical communication studies. It would, for instance, be interesting to know how the characterization of the responsibilities ascribed to (or self-ascribed by) genetic professionals maps on the current ideal of non-directive genetic counseling as defined by the UNESCO (United Nations Educational, Scientific and Cultural Organization,
This is supported by the observation that some studies implied that the availability of genetic tests did not necessarily correlate with the increase in the perceived responsibilities of the affected individuals toward their family or next of kin (Weiner,
Conversely, as the focus of qualitative empirical research on GT was mainly on interpersonal family relationships, the influences of the increased possibilities for GI were not clearly revealed on a broader social and institutional level. This was supported by the blatant underrepresentation of empirical studies focusing on institutional responsibilities. The role of institutions such as insurance companies, state legislation, and professional associations has been insufficiently examined empirically (Heyman and Henriksen,
Our findings suggest that the socioempirical literature focused on the complexity of concrete practices and experiences of GT, whereas the philosophical and ethical discourses about GT focus more on the liberal challenge whether and when to intervene legally in the GT practice (Chadwick et al.,
The focus of the qualitative studies in the examined social science literature was on the micropolitics of interpersonal relationships. State institutions, law givers, insurance companies, or even the healthcare system as a whole were regarded as the bearers of responsibility in only very few studies. This is striking because the claim of “responsibilization” of the individual in a neoliberal atmosphere is a common critique in more current sociological theories, but was only found to be indirectly approached in empirical studies (Arribas-Ayllon et al.,
Moreover, the studies we reviewed indicated that the increasing availability of genetic tests for an increasing array of genetic conditions with ever more complex and multifactorial causes does not seem to have led to an increase in the individual burden of responsibility. This is primarily because the salience of GR in most socioempirical studies was restricted to the clinical context and did not shed light on non-clinical contexts such as direct-to-consumer applications.
As a result, the studies’ general references to GR were rather pragmatic and undertheorized. This is remarkable if one takes into account that a significant part (two third) of the studies appeared in journals of medical sociology or medical ethics. However, they often helped to reveal communicative barriers and social or psychological issues in the management of GT practices or aimed to contribute to a solution to the pressing psychological, legal, and ethical conflicts, contributing to an improvement in the current situation. Therefore, it would be worthwhile for future studies to apply a more explicit, precise concept of GR to address and determine what exactly is at stake.
JL: literature search, summaries, detailed analysis, tables, article conception, and writing; MS: literature search, detailed analysis, and writing. SS: study conception, detailed analysis, and writing.
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
The authors like to thank Karin Jongsma, Mats Hanson, Nitzan Ramon-Zarfaty, and Mark Schweda for constructive comments to an earlier version and Dŏga Dinçel for help with reference editing.
This work was funded by the Swedish Riksbankens Jubileumsfond (grant no.: 1351730) 2015–2019.
The Supplementary Material for this article can be found online at
1We refer to GT as a medical test that identifies changes in chromosomes, genes, or proteins. GI in a narrow sense refers to information acquired
2This review is part of a larger project in which yet unclarified conceptual uses of GR in the wider bioethical and biopolitical discourse about GT are being analyzed. A second analysis, in which we aim to analyze the concept of GR in the ethical literature, is currently in preparation.
3Although the temporal dimension of responsibility is well acknowledged in the theoretical discussion, the spatial dimension is yet insufficiently addressed. However, an implicit way of addressing the spatial dimension can be seen in the way how the relationship between the moral agent and moral object is construed and addressed. We can think of social closeness (e.g., such as in family) as a constructive manner of space as well as of narrow distances that matter (e.g., exchanging GI in a same room of a hospital). The latter is then a geographical manner of space (Simmel,
4The search was performed with no time limitations. However, it was limited by the maximal timeframe offered by the databases (i.e., 1945–2016) and the authors’ language skills.
5We do not intend to imply that the affective/relational approach to responsibility is less rational than the rational/principle-oriented approach. Emotional reactions toward close and distant others can be rational, for instance, if they reliably track the morally salient features of their relationships with others.
6for a general discussion of the term, cf. Schicktanz et al. (
7We have distinguished between “relatives” and “next of kin.” The first includes not only people who are genetically related but also those who are affected by the GI who do not share the ancestry relevant for the genetic risk, such as partners or spouses or the family of the spouse.
8Transmitting genetic risk information responsibly can theoretically involve a feeling of obligations toward oneself, such as resisting familial pressures to disclose information or preventing harm to oneself, which might otherwise be caused by the reactions of others to the disclosed information. In practice, however, the self is rarely seen as the object of responsible agency in the context of informational genetic responsibility.
9These other-oriented norms were obviously drawn from a Western or European cultural context. This reflects the structure of our literature sample.
10For a recent discussion of this standard and its history, see also Louhiala and Launis (
11This observation is not true for studies examining professional attitudes toward “prenatal testing” (Heyman and Henriksen,