The kin of the gene: the medicalization of family and kinship in American Society

In the past several decades there has been an explosion of research in genetics and on genetic inheritance. This new genetics is part of contemporary biomedicine and forecasts great advances in alleviating disease and prolonging human life. It also encompasses notions about biological family and kinship relations. I propose that with the advent of the new genetics, family and kinship are being medicalized. I explore the ways in which explanations of the inheritance of genetic disease influence people's understandings of family and kin and both reflect and conflict with broader current sociocultural processes. The discussion includes a brief overview of the anthropological study of kinship, the meaning of family and kinship in contemporary society, the concept of medicalization and its implications for people's lives as seen through narratives and concludes with an analysis the significance of the medicalization of family and kinship in present-day society.     

Conceptual and ethical problems in the epistemology of genetic information

My thesis will be that the identification of genetic features and their medical interpretation follow at least partially from reductionist premises: “Genes are charging the gun, life(-style) will trigger it.” This simplistic metaphor illustrates a problem of genetic diagnosis: from the viewpoint of philosophy of science, concepts of the gene and the genome are vague and confused. Until now these concepts have not been defined satisfactorily. Partly on account of this there is an additional problem in applying genetic tests in medical diagnostics. The epistemic status of predictive genetic diagnosis in many cases can justifiably be called “opaque.” But a predictive genetic test is designed to reveal genetic knowledge of and for a client on the basis of scientific research. Methodologically the diagnosis of the scientific problem in genetics as a science is developed philosophically as an epistemological argument. The problem of genetics as applied science in medicine and society is the danger of irrationality due to reductionist premises of science. This problem is to be revealed by philosophical analysis. The major result of the argument is that the assessment of applications of basic research in genetics should include considerations from epistemology and philosophy of science. The epistemological status of scientific concepts and reasonableness of advice are interrelated. My thesis is that at the interface between theory of science in genetics and reasonableness of “genetic advice” is the responsibility of the researchers for concepts of their science.     

How stabilizing selection and nongenetic inheritance combine to shape the evolution of phenotypic plasticity

Relatively little is known about whether and how nongenetic inheritance interacts with selection to impact the evolution of phenotypic plasticity. Here, we empirically evaluated how stabilizing selection and a common form of nongenetic inheritance—maternal environmental effects—jointly influence the evolution of phenotypic plasticity in natural populations of spadefoot toads. We compared populations that previous fieldwork has shown to have evolved conspicuous plasticity in resource‐use phenotypes (“resource polyphenism”) with those that, owing to stabilizing selection favouring a narrower range of such phenotypes, appear to have lost this plasticity. We show that: (a) this apparent loss of plasticity in nature reflects a condition‐dependent maternal effect and not a genetic loss of plasticity, that is “genetic assimilation,” and (b) this plasticity is not costly. By shielding noncostly plasticity from selection, nongenetic inheritance generally, and maternal effects specifically, can preclude genetic assimilation from occurring and consequently impede adaptive (genetic) evolution.     

Accepting Adoption’s Uncertainty: The Limited Ethics of Pre-Adoption Genetic Testing

An increasing number of children are adopted in the United States from countries where both medical care and environmental conditions are extremely poor. In response to worries about the accuracy of medical histories, prospective adoptive parents increasingly request genetic testing of children prior to adoption. Though a general consensus on the ethics of pre-adoption genetic testing (PAGT) argues against permitting genetic testing on children available for adoption that is not also permitted for children in general, a view gaining traction argues for expanding the tests permitted. The reasoning behind this view is that the State has a duty to provide a child with parents who are the best “match,” and thus all information that advances this end should be obtained. While the matching argument aims to promote the best interests of children, I show how it rests on the claim that what is in the best interests of children available for adoption is for prospective adoptive parents to have their genetic preferences satisfied such that the “genetics” of the children they end up adopting accurately reflects those preferences. Instead of protecting a vulnerable population, I conclude, PAGT contributes to the risks of harm such children face as it encourages people with strong genetic preferences to adopt children whose genetic backgrounds will always be uncertain.     

Anorexia Nervosa: The Diagnosis

This paper argues that there is a relationship between understandings of anorexia nervosa (AN) and how the ethical issues associated with involuntary treatment for AN are identified, framed, and addressed. By positioning AN as a construct/discourse (hereinafter “AN: the diagnosis”) several ethical issues are revealed. Firstly, “AN: the diagnosis” influences how the autonomy and competence of persons diagnosed with AN are understood by decision-makers in the treatment environment. Secondly, “AN: the diagnosis” impacts on how treatment and treatment efficacy are defined and the ethical justifiability of paternalism. Thirdly, “AN: the diagnosis” can limit the opportunity for persons with AN to construct an identity that casts them as a competent person. “AN: the diagnosis” can thus inherently affirm professional knowledge and values. Postmodern professional ethics can support professionals in managing these issues by highlighting the importance of taking responsibility for professional knowledge, values, and power and embracing moral uncertainty.     

The value and meaning attached to genetic relatedness among Australian sperm donors

While in the context of western societies sperm is attributed with a wide range of meanings, in the context of assisted reproduction it has increasingly been treated as an alienable commodity. Yet despite attempts by medical professionals to encourage a disconnect between donors and their sperm, the latter continues in many instances to operate as a synecdoche for the former. This can be seen, for example, both in donor-conceived children's desire to know their donor and in donors' investments in the use of their sperm. This paper explores the latter example by providing a discourse analysis of the narratives of 30 Australian sperm donors, with a focus on how they accounted for the value and meaning of their sperm. Three broad themes are discussed: sperm as a marker of genetic legacy, responsibility for sperm as genetic material, and sperm as a “gift” to others. The implications of these understandings of sperm among donors are discussed in relation to outcomes for all parties involved in donor conception, and suggestions are made for recognizing the investments that donors may have in their sperm.     

Missing heritability of complex diseases: Enlightenment by genetic variants from intermediate phenotypes

Diseases of complex origin have a component of quantitative genetics that contributes to their susceptibility and phenotypic variability. However, after several studies, a major part of the genetic component of complex phenotypes has still not been found, a situation known as “missing heritability.” Although there have been many hypotheses put forward to explain the reasons for the missing heritability, its definitive causes remain unknown. Complex diseases are caused by multiple intermediate phenotypes involved in their pathogenesis and, very often, each one of these intermediate phenotypes also has a component of quantitative inheritance. Here we propose that at least part of the missing heritability can be explained by the genetic component of intermediate phenotypes that is not detectable at the level of the main complex trait. At the same time, the identification of the genetic component of intermediate phenotypes provides an opportunity to identify part of the missing heritability of complex diseases.     

Hérédité et épigénétique: un rôle inattendu pour l’ARN

Although Mendel’s first laws explain the transmission of most characteristics, there has recently been a renewed interest in the notion that DNA is not the sole determinant of our inherited phenotype. Human epidemiology studies and animal and plant genetic studies have provided evidence that epigenetic information (“epigenetic” describes an inherited effect on chromosome or gene function that is not accompanied by any alteration of the nucleotide sequence) can be inherited from parents to offspring. Most of the mechanisms involved in epigenetic “memory” are paramutation events, which are heritable epigenetic changes in the phenotype of a “paramutable” allele. Initially demonstrated in plants, paramutation is defined as an interaction between two alleles of a single locus that results in heritable changes of one allele that is induced by the other. The authors describe an unexpected example of paramutation in the mouse revealed by a recent analysis of an epigenetic variation modulating expression of theKit locus. The progeny of hétérozygote intercrosses (carrying one mutant and one wild-type allele) showed persistence of the white patches (characteristic of hétérozygotes) in the homozygous Kit^+/+ progeny. The DNA sequences of the two wild-type alleles were structurally normal, revealing an epigenetic modification. Further investigations showed that RNA and microRNA, released by sperm, mediate this epigenetic inheritance. The molecular mechanisms involved in this unexpected mode of inheritance and the role of RNA molecules in the spermatozoon head as possible vectors for the hereditary transfer of such modifications — implying that paternal inheritance is not limited to just one haploid copy of the genome — are still a matter of debate. Paramutations may be considered to be one possibility of epigenetic modification in the case of familial disease predispositions not fully explained by Mendelian analysis.     

Inclusive heritability: combining genetic and non‐genetic information to study animal behavior and culture

Phenotypic variance results from variation in biological information possessed by individuals. Quantitative geneticists often strive to partition out all environmental variance to measure heritability. Behavioral biologists and ecologists however, require methods to integrate genetic and environmental components of inherited phenotypic variance in order to estimate the evolutionary potential of traits, which encompasses any form of information that is inherited. To help develop this integration, we build on the tools of quantitative genetics and offer the concept of ‘inclusive heritability’ which identifies and unifies the various mechanisms of information transmission across generations. A controversial component of non‐genetic information is animal culture, which is the part of phenotypic variance inherited through social learning. Culture has the unique property of being transmitted horizontally and obliquely, as well as vertically. Accounting for cultural variation would allow us to examine a broader range of evolutionary mechanisms. Culture may, for instance, produce behavioral isolating mechanisms leading to speciation. To advance the study of animal culture, we offer a definition of culture that is rooted in quantitative genetics. We also offer four testable criteria to determine whether a trait is culturally inherited. These criteria may constitute a conceptual tool to study animal culture. We briefly discuss methods to partition out cultural variance. Several authors have recently called for ‘modernizing the modern synthesis’ by including non‐genetic factors such as epigenetics and phenotypic plasticity in order to more fully explain phenotypic evolution. Here, we further propose to broaden the concept of inheritance by incorporating the cultural component of behavior. Applying the concept of inclusive heritability may advance the integration of multiple forms of inheritance into the study of evolution.     

Transgenerational and developmental plasticity at the molecular level: Lessons from Daphnia

Listen to the news and you are bound to hear that researchers are increasingly interested in the biological manifestations of trauma that reverberate through the generations. Research in this area can be controversial in the public realm, provoking societal issues about personal responsibility (are we really born free or are we born with the burden of our ancestors’ experience?). It is also a touchy subject within evolutionary biology because it provokes concerns about Lamarckianism and general scepticism about the importance of extra‐genetic inheritance (Laland et al., 2014 ). Part of why the research in this area has been controversial is because it is difficult to study. For one, there is the problem of how long it takes to track changes across generations, making long‐term, multi‐generational studies especially tricky in long‐lived species. Moreover, there are presently very few (if any) known molecular mechanisms by which environmental effects can be incorporated into the genome and persist for multiple successive generations, casting doubt on their evolutionary repercussions. Fortunately, you only have to look in your local pond to find the creatures that are teaching us a great deal about how and why the experiences of parents are passed down to their offspring. In this issue of Molecular Ecology, Hales et al. (Hales et al., 2017 ) illustrate the power of Daphnia (“water fleas”) for making headway in this field.     

Three sensible paradigms for research on evolution and human behavior?

Far from being involved in a fundamental division, the study of evolution and human behavior is fortunate to have three potentially productive paradigms which could usefully coexist. In so far as “Darwinian psychology” (DP) is the study of causal mechanisms, guided by thinking about the tasks the mechanisms must perform, it has a clear place alongside the study of adaptedness. Instead of arguing its right to exist by pointing out problems with “adaptationism,” DP should present its audience with more examples of how DP research can be conducted. Meanwhile, adaptationists might move on from asking whether people behave as if they are maximizing fitness, and decide what to do with their finding that the answer is often “yes.” They might also get actively involved with dual inheritance theory, developing ways to make it yield more predictions.     

The genomic and ecological context of hybridization affects the probability that symmetrical incompatibilities drive hybrid speciation

Despite examples of homoploid hybrid species, theoretical work describing when, where, and how we expect homoploid hybrid speciation to occur remains relatively rare. Here, I explore the probability of homoploid hybrid speciation due to “symmetrical incompatibilities” under different selective and genetic scenarios. Through simulation, I test how genetic architecture and selection acting on traits that do not themselves generate incompatibilities interact to affect the probability that hybrids evolve symmetrical incompatibilities with their parent species. Unsurprisingly, selection against admixture at “adaptive” loci that are linked to loci that generate incompatibilities tends to reduce the probability of evolving symmetrical incompatibilities. By contrast, selection that favors admixed genotypes at adaptive loci can promote the evolution of symmetrical incompatibilities. The magnitude of these outcomes is affected by the strength of selection, aspects of genetic architecture such as linkage relationships and the linear arrangement of loci along a chromosome, and the amount of hybridization following the formation of a hybrid zone. These results highlight how understanding the nature of selection, aspects of the genetics of traits affecting fitness, and the strength of reproductive isolation between hybridizing taxa can all be used to inform when we expect to observe homoploid hybrid speciation due to symmetrical incompatibilities.     

<Emphasis Type="Bold">Personal Genomic Testing,Genetic Inheritance,and Uncertainty</Emphasis>

The case outlined below is the basis for the In That Case section of the “Ethics and Epistemology of Big Data” symposium. Jordan receives reports from two separate personal genomic tests that provide intriguing data about ancestry and worrying but ambiguous data about the potential risk of developing Alzheimer’s disease. What began as a personal curiosity about genetic inheritance turns into an alarming situation of medical uncertainty. Questions about Jordan’s family tree are overshadowed by even more questions about Alzheimer’s disease and healthy ageing. As a parent, Jordan is unsure whether to share these results and what it would mean for their children to learn about their genetic inheritance and potential future health. Furthermore, Jordan is unsure how to make sense of these reports in light of current knowledge of the risk factors for Alzheimer’s disease and in the absence of effective treatments or robust preventative guidelines.     

Genetic fatalism and social policy: the implications of behavior genetics research.

Recent advances in molecular genetics methods have provided new means of determining the genetic bases of human behavioral traits. The impetus for the use of these approaches for specific behaviors depends, in large part, on previous familial studies on inheritance of such traits. In the past, a finding of a genetic basis for a trait was often accompanied with the idea that that trait is unchangeable. We discuss the definition of "genetic trait" and heritability and examine the relationship between these concepts and the malleability of traits for both molecular and nonmolecular approaches to behavioral genetics. We argue that the malleability of traits is as much a social and political question as it is a biological one and that whether or not a trait is genetic has little relevance to questions concerning determinism, free will, and individual responsibility for actions. We conclude by noting that "scientific objectivity" should not be used to conceal the social perspectives that underlie proposals regarding social change.     

Part of my story. The meaning and experiences of genes and genetics for sperm donor-conceived offspring

Existing empirical research often do not explain which concepts about genetics underlie the assumption that genetic information is deemed important for donor-conceived offspring. This study focused on how donor-conceived individuals following anonymous sperm donation give meaning to and make sense of genes and genetics. Analysis is based on focus groups and interviews with adult donor-conceived offspring. Findings suggest that genes are part of their specific context of being donor-conceived but also play a role in daily life. Genes make sense on an individual level and a relational level, both on parent-child as sibling-level. On an individual level they were perceived as (1) a biological starting package, (2) their own unique combination and (3) as a reference point. On a relational level, genes were seen as (1) “person-al”, (2) connecting and (3) locating individuals. This information is essential for those supporting/counseling donor conceived offspring and families as well as for policy-members.     

Microbiome‐Germline Interactions and Their Transgenerational Implications

It is becoming increasingly clear that most, if not all, animals and plants are associated with a diverse array of resident gut microbiota. This symbiosis is regulated by host‐microbiome interactions which influence the development, homeostasis, adaptation and evolution of the host. Recent evidence indicated that these interactions can also affect the host germline and have a potential of supporting transgenerational effects, including inheritance of acquired characteristics. Taken together, the influence of gut bacteria on the host soma and germline could potentially give rise to emergent phenotypes, which may be partially inherited by three distinguishable modes of transgenerational influence of gut bacteria: 1) “soma‐to‐soma” 2) “soma‐to‐germline” and 3) “soma‐germline‐soma”. Here, we discuss these possibilities in light of evidence supporting bacterial‐mediated modes of transgenerational inheritance.

     

Strategies for determining kinship in wild populations using genetic data

Knowledge of kin relationships between members of wild animal populations has broad application in ecology and evolution research by allowing the investigation of dispersal dynamics, mating systems, inbreeding avoidance, kin recognition, and kin selection as well as aiding the management of endangered populations. However, the assessment of kinship among members of wild animal populations is difficult in the absence of detailed multigenerational pedigrees. Here, we first review the distinction between genetic relatedness and kinship derived from pedigrees and how this makes the identification of kin using genetic data inherently challenging. We then describe useful approaches to kinship classification, such as parentage analysis and sibship reconstruction, and explain how the combined use of marker systems with biparental and uniparental inheritance, demographic information, likelihood analyses, relatedness coefficients, and estimation of misclassification rates can yield reliable classifications of kinship in groups with complex kin structures. We outline alternative approaches for cases in which explicit knowledge of dyadic kinship is not necessary, but indirect inferences about kinship on a group‐ or population‐wide scale suffice, such as whether more highly related dyads are in closer spatial proximity. Although analysis of highly variable microsatellite loci is still the dominant approach for studies on wild populations, we describe how the long‐awaited use of large‐scale single‐nucleotide polymorphism and sequencing data derived from noninvasive low‐quality samples may eventually lead to highly accurate assessments of varying degrees of kinship in wild populations.     

DNA fingerprinting of Rattus norvegicus: a new approach in genetic analysis

Recent finding in highly effective DNA probes for RFLP testing (of hypervariable minisatellite DNA type) has led to the invention of DNA fingerprinting--the new technique of great value for identification of individuals, establishing biological kinship and studies in population genetics. We anticipate that DNA fingerprinting procedure with M13 phage DNA as a probe which we have developed earlier, makes it possible to apply new approach in genetic analysis--establishing, whether or not a particular locus is associated with the inheritance of genetic disease, by comparing the whole restriction fragment data from affected and unaffected animals. In this work, using the method described we characterized the Kroushynsky-Molodkina rat strain with hereditary disposition for epileptic attacks and performed comparative fingerprint analysis of these defective and normal rat genomes. The data obtained may hold some promises for further seeking the particular defective gene.     

Visibilities,invisibilities and twilight zones at the crime scene in Portugal

The Police are the first element of a chain of custody culminating in the court. The documents they produce mediate the understandings between the crime scene and the court. Based on the formal rules, the police give visibility to the narrative and assign legitimacy and credibility to their performance. However, the decision to turn certain aspects of the narrative visible, leaving others in a twilight zone may have repercussions in the production of a verdict. Based in a qualitative analysis of three Portuguese judicial proceedings in this paper I explore how the narrative constructed by the police, based on what they see and what is unseen, travels between subepistemic cultures. Looking at the visibilities, invisibilities and twilight zones, I will try to understand how police forces at the crime scene in Portugal construct their narratives through the use of biological traces and how these narratives are part of the construction of the evidence. I argue that in criminal investigations in Portugal, the production of a narrative with legal meaning in court can be conditioned by the co-existence of the epistemic subcultures of police work (different police forces at the crime scene) that have different knowledge, practices, understandings and ways of “seeing” the forensic evidence. The degree of technological enthusiasm that guides the performance of different police forces at the crime scene is reflected in the way they “see” the scene and in the sociocultural understandings that they produce. This technological enthusiasm and what I call here “selective professional vision” are mobilized at the crime scene and can impact the robustness and efficiency of the evidence presented in court.