Parent perspectives on pediatric genetic research and implications for genotype-driven research recruitment

As genetic research is increasingly conducted in children, it is important to understand how parents make decisions about enrolling their children and what they think about receiving their children's genetic research results. We conducted semi-structured phone interviews with 23 parents of children enrolled in genetic studies of autism or diabetes. Qualitative thematic analysis focused on two important components of genetic research and genotype-driven recruitment: participation in genetic research and return of results. Our findings suggest that parents' preferences and perspectives may be specific to their child's disease and the needs of the family as a whole. Assessing the expectations of target research populations will be beneficial for developing best practices for pediatric genetic research, return of results, and genotype-driven recruitment.     

To know or not to know? Genetic ignorance, autonomy and paternalism

This paper examines some arguments which deny the existence of an individual right to remain ignorant about genetic information relating to oneself--often referred to as 'a right to genetic ignorance' or, more generically, as 'a right not to know'. Such arguments fall broadly into two categories: 1) those which accept that individuals have a right to remain ignorant in self-regarding matters, but deny that this right can be extended to genetic ignorance, since such ignorance may be harmful to others, particularly those to whom one is genetically related (the 'harm to others objection') and 2) those which contend that, even if genetic ignorance is only self harming, it is not something to which individuals can rationally or morally claim to have a 'right' at all, since they defend their claims on autonomy-respecting grounds and ignorance is inimical to autonomy (the 'incoherence objection'). I argue that defenders of a right not to know have some plausible responses to the 'harm to others objection', they and their opponents reach an impasse in which both sides are left voicing concerns about the paternalistic implications of the other's point of view. I conclude that defenders of a right not to know would, therefore, advance their position further by analysing it in terms of values other than those of autonomy and rights.     

Ectogenesis,abortion and a right to the death of the fetus

Many people believe that the abortion debate will end when at some point in the future it will be possible for fetuses to develop outside the womb. Ectogenesis, as this technology is called, would make possible to reconcile pro‐life and pro‐choice positions. That is because it is commonly believed that there is no right to the death of the fetus if it can be detached alive and gestated in an artificial womb. Recently Eric Mathison and Jeremy Davis defended this position, by arguing against three common arguments for a right to the death of the fetus. I claim that their arguments are mistaken. I argue that there is a right to the death of the fetus because gestating a fetus in an artificial womb when genetic parents refuse it violates their rights not to become a biological parent, their rights to genetic privacy and their property rights. The right to the death of the fetus, however, is not a woman's right but genetic parents’ collective right which only can be used together.     

Hope against hope: changing emotions in the Burundian crisis

Through the lens of Burundians who have been displaced by the recent crisis in Burundi and their anticipations of possible futures for themselves and their country, expressed in the emotions of hope, anxiety, and despair, this article explores the shift from a situation characterized by upheaval towards the crystallization of authoritarian rule in Burundi. Drawing on ethnographic research amongst Burundian refugees in Rwanda, I examine how these individuals negotiate such uncertain and unpredictable circumstances as well as how emotions of hope, anxiety, and despair change accordingly. I argue that the political closure in Burundi has produced a gradual shift from productive anxiety in the Kierkegaardian sense towards despair and a feeling of existential closure. In such situations, when uncertainty gives way to a certainty that there are no futures, the present becomes detached from the flow of time and decisions become impossible to make. The Burundians in Rwanda can only live for the moment and hope against hope, often evoking a distinction between their hopelessness as human beings and the hope that they are compelled to have as Christians.     

Childhood malignancies and decision making.

Failure to obtain "adequate" medical care for a child constitutes child neglect, which may be used as the basis for prosecution of parents, removal of the child from the home, or court-ordered medical treatment. "Adequate" care is usually construed as that which is given by a licensed physician, but, in case of dispute, courts almost never engage in choosing one medical approach over another. The principle that parents may not refuse medical care, however, is made very difficult when children have malignancies--the long-term nature of the treatment means that, if the child is left at home, court order or not, the parents may flee with their child. Removing the child from the home, however, adds that trauma to the ill child's burdens. Questions should be asked before making a request to a court to order a therapy which will prolong but not save a child's life if the parents would prefer to spare their child the side effects. Parents, however, may always refuse to permit their child to participate in research studies, no matter how promising. Adolescents are increasingly believed to be capable of medical decision making; most courts, however, would not allow an adolescent to refuse life-saving treatment.     

GENETIC ENGINEERING TO AVOID GENETIC NEGLECT: FROM CHANCE TO RESPONSIBILITY

Currently our assessment of whether someone is a good parent depends on the environmental inputs (or lack of such inputs) they give their children. But new genetic intervention technologies, to which we may soon have access, mean that how good a parent is will depend also on the genetic inputs they give their children. Each new piece of available technology threatens to open up another way that we can neglect our children. Our obligations to our children and our susceptibilities to corresponding legal and moral sanctions may be about to explosively increase. In this paper I argue that we should treat conventional neglect and ‘genetic neglect’– failing to use genetic intervention technologies to prevent serious diseases and disabilities – morally consistently. I conclude that in a range of cases parents will have a moral obligation to use genetic treatments to prevent serious disabilities in their children. My particular focus is on prenatal interventions and their impact of the bodily integrity of expectant mothers. I conclude that although bodily integrity constrains moral obligations, it is outweighed in a range of cases.     

ORPHANS BY DESIGN: THE FUTURE OF GENETIC PARENTHOOD

Establishing the nature of genetic parenthood is an important task. This is, firstly, because many people desire that relationship and it is in their interest to know what that is, and secondly, because there is a view that it may incur certain moral obligations between the genetic parent and their child. Many theorists have made attempts to define exactly what genetic parenthood is. I show that these definitions are deficient if they wish to fully capture all reproductive scenarios in ways that are intuitive and/or meaningful. Through a series of cases involving technologies such as cloning and genome editing, we see that in lieu of the traditional two parents, there are possible beings who have no genetic parents, one genetic parent, or many genetic parents. Establishing these cases complicates our understanding of genetic parenthood. From this, we must reconsider current definitions, as well as the usefulness of defining genetic parenthood in these complex cases. Here I do not aim to establish a new definition, but rather to suggest that this complexity makes it necessary to re‐assess the importance of the connection between genetic parenthood and parental obligations and authorities.     

Is the central‐marginal hypothesis a general rule? Evidence from three distributions of an expanding mangrove species,Avicennia germinans (L.) L

The central‐marginal hypothesis (CMH) posits that range margins exhibit less genetic diversity and greater inter‐population genetic differentiation compared to range cores. CMH predictions are based on long‐held “abundant‐centre” assumptions of a decline in ecological conditions and abundances towards range margins. Although much empirical research has confirmed CMH, exceptions remain almost as common. We contend that mangroves provide a model system to test CMH that alleviates common confounding factors and may help clarify this lack of consensus. Here, we document changes in black mangrove (Avicennia germinans) population genetics with 12 nuclear microsatellite loci along three replicate coastlines in the United States (only two of three conform to underlying “abundant‐centre” assumptions). We then test an implicit prediction of CMH (reduced genetic diversity may constrain adaptation at range margins) by measuring functional traits of leaves associated with cold tolerance, the climatic factor that controls these mangrove distributional limits. CMH predictions were confirmed only along the coastlines that conform to “abundant‐centre” assumptions and, in contrast to theory, range margin A. germinans exhibited functional traits consistent with greater cold tolerance compared to range cores. These findings support previous accounts that CMH may not be a general rule across species and that reduced neutral genetic diversity at range margins may not be a constraint to shifts in functional trait variation along climatic gradients.     

Parents, ADHD and the internet

The objective of this study is to examine the potential impact of using the internet on medical consultations by analysing the attitudes, attributions, and emotional responses of parents who have been informed by specialists that their child does not have attention-deficit hyperactivity disorder (ADHD) and to examine the nature of the feedback they obtained from members of online internet support groups. Over 40,000 messages from the five most popular international internet forums discussing children with ADHD were analysed. Messages from parents who reported that they had seen at least one specialist (e.g. paediatrician, psychiatrist or psychologist) because of their concerns that their child had ADHD were identified. The children included boys and girls with an age range from 2 to 16?years. Of these, we analysed messages where the parents additionally reported that the specialist had excluded a diagnosis of ADHD. Using these criteria, 91 messages from parents who had consulted over 200 different specialists and 398 replies to these messages were identified for content analysis. The replies to concerned parents were analysed to determine whether they were offered impartial advice. A majority of the parents reported that they did not believe the specialist and were unhappy about their child not being diagnosed with ADHD. They expressed dissatisfaction with the professional's opinions and the implication that their child's conduct was caused by their poor parenting skills. Importantly, 87.6?% of the responses that these parents received, from other members of online forums, reinforced the parent's negative attitude towards the professional's judgement. It was generally suggested that the parents should not believe the expert and should seek a further opinion. The use of the internet may encourage "doctor shopping" and mistrust in health services. Medical professionals and others may need to be aware of this, and parents may need more support than is generally offered to be able to accept alternative explanations for their child's behaviour.     

Stocking the Genetic Supermarket: Reproductive Genetic Technologies and Collective Action Problems

Reproductive genetic technologies (RGTs) allow parents to decide whether their future children will have or lack certain genetic predispositions. A popular model that has been proposed for regulating access to RGTs is the ‘genetic supermarket’. In the genetic supermarket, parents are free to make decisions about which genes to select for their children with little state interference. One possible consequence of the genetic supermarket is that collective action problems will arise: if rational individuals use the genetic supermarket in isolation from one another, this may have a negative effect on society as a whole, including future generations. In this article we argue that RGTs targeting height, innate immunity, and certain cognitive traits could lead to collective action problems. We then discuss whether this risk could in principle justify state intervention in the genetic supermarket. We argue that there is a plausible prima facie case for the view that such state intervention would be justified and respond to a number of arguments that might be adduced against that view.     

COMMENTARY ON ZOHAR'S “PROSPECTS FOR‘GENETIC THERAPY’- CAN A PERSON BENEFIT FROM BEING ALTERED?”

In his paper on the effects of Prenatal Genetic Intervention (PGI) on personal identity, Noam Zohar comes to a conclusion about genetic makeup and the uses of gene therapy quite different from the one I reach in another piece in this issue. Zohar's argument rests on the contention that personal identity changes with alteration of the genome, following what I have identified as the "constitutive" view. To see that this is the pillar supporting the weight of his argument, consider the following. Questions of identity aside, how can it be that altering the genome of children suffering from Lesch-Nyhan syndrome or Tay-Sachs disease so that they now produce the enzyme that they formerly lacked does not benefit them? Clearly, if their identities were not changed, such individuals would in fact realize great benefit from PGI, since the devastating bad effects of the genetic flaw would be avoided. Such a change would certainly make the altered individuals better off, that is, it would benefit them. On this, Zohar and I do not disagree. Persistence of identity through such genetic change is the sticking point.     

Solidarity, children and research

While research on children is supported by many professional guidelines, international declarations and domestic legislation, when it is undertaken on children with no possibility of direct benefit it rests on shaky moral foundations. A number of authors have suggested that research enrolment is in the child's best interests, or that they have a moral duty or societal obligation to participate. However, these arguments are unpersuasive. Rather, I will propose in this paper that research participation by children seems most reasonable when considered as an act of solidarity; a form of identification with, and provision of practical assistance to, those who are less well off. This is an articulation of the view that many children, and their parents, seem to take seriously the suffering of others, and wish to assist in advancing other children's wellbeing. Perhaps, by fostering an environment in which children are encouraged to take solidarity seriously, participation in research which holds out substantial hope of benefit to those less well off would come to be perceived as a behavioural norm rather than an exceptional practice.     

Are research ethics committees behaving unethically? Some suggestions for improving performance and accountability.

The results of recent empirical investigations in research synthesis imply that research ethics committees are behaving unethically by endorsing new research which is unnecessary and by acquiescing in biased under-reporting of research which they have approved. The performance and accountability of research ethics committees would be improved if they required those proposing research to present systematic reviews of relevant previous research in support of their applications; to summarise the results of these reviews in the information prepared for potential participants; to register new controlled trials at inception; and to ensure that the results of these trials are made publicly available within a reasonable period of time after completion of data collection.     

Is There a Case in Favour of Predictive Genetic Testing in Young Children?

Genetic testing technology has brought the ability to predict the onset of diseases many years before symptoms appear and the use of such predictive testing is now widespread. The medical fraternity has met the application of this practice to children with caution. The justification for their predominantly prohibitive stance has revolved around the lack of a readily identifiable medical benefit in the face of potential psychological harms to the child. We argue that predictive testing can have important psychosocial benefits and that the interests of the child have been construed too narrowly. Proponents of a prohibitive stance also argue that testing in childhood breaches the child's future right to make the same decision as an autonomous adult and to maintain this information as confidential. We argue that predictive genetic testing of children is not necessarily a violation of the child's future autonomy. Indeed, in some cases, such testing may facilitate the development of autonomy in the maturing child. We argue that parents are generally best placed to judge what is in their own child's overall interests, and that a parental request for testing after appropriate genetic counselling should be respected unless there is clear evidence that the child will be harmed in an overall sense as a result of testing.     

Parental preferences for the facial traits of their offspring's partners can enhance parental inclusive fitness

Physical appearance provides a wealth of information concerning an individual's biological fitness and reproductive quality, but we do not know whether parents make use of this information when evaluating potential partners for their offspring. This is critical to our understanding of human mate choice, because parents frequently influence their offspring's mating decisions, either directly, for instance through arranged marriages, or indirectly, through manipulating their offspring's partner choice. Here, we used facial images that varied in attractiveness, masculinity, health, and symmetry to assess both reproductively-aged daughters' and their parents' preferences in potential mates for the daughters. In line with our predictions, both daughters and their parents had clear preferences for markers of genetic quality, although the daughters showed significantly stronger preferences for these markers than their parents. Contrary to previous research, parents and daughters did not have stronger preferences for markers of genetic quality if they perceived the daughter to be more attractive. Parents' preferences for the facial markers of genetic quality in their offspring's partner may help maximize inclusive fitness.     

Evolutionarily accelerated invasions: the rate of dispersal evolves upwards during the range advance of cane toads

Human activities are changing habitats and climates and causing species' ranges to shift. Range expansion brings into play a set of powerful evolutionary forces at the expanding range edge that act to increase dispersal rates. One likely consequence of these forces is accelerating rates of range advance because of evolved increases in dispersal on the range edge. In northern Australia, cane toads have increased their rate of spread fivefold in the last 70 years. Our breeding trials with toads from populations spanning the species' invasion history in Australia suggest a genetic basis to dispersal rates and interpopulation genetic variation in such rates. Toads whose parents were from the expanding range front dispersed faster than toads whose parents were from the core of the range. This difference reflects patterns found in their field-collected mothers and fathers and points to heritable variance in the traits that have accelerated the toads' rate of invasion across tropical Australia over recent decades. Taken together with demonstrated spatial assortment by dispersal ability occurring on the expanding front, these results point firmly to ongoing evolution as a driving force in the accelerated expansion of toads across northern Australia.     

Ecological laws: what would they be and why would they matter?

There remains considerable debate over the existence of ecological laws. However, this debate has not made use of an adequate account of what a relationship would have to be like in order for it to qualify as an ecological law. As a result, confusions have persisted not only over how to show that ecological laws do (or do not) exist, but also regarding why their existence would matter – other than to whether ecology looks like physics. I argue that ecological laws would have to possess collectively a distinctive kind of invariance under counterfactual perturbations. I call this invariance "stability." A law of physics, such as the law that all bodies travel no faster than the speed of light, is not only true, but also necessary in a physically significant sense. (A body must travel no faster than light; it couldn't do otherwise, even if it were subjected to a greater force.) Likewise, the stability of ecological laws would render them necessary in an ecologically relevant sense. Furthermore, ecological laws would differ from fundamental laws of physics in the range of counterfactual perturbations under which they are invariant. Therefore, I argue, the existence of ecological laws would make ecological explanations irreducible to even the most complete possible physical explanations of the same phenomena. Ecological laws would make ecology genuinely autonomous from physics.     

Reproductive ‘Surrogacy’ and Parental Licensing

A serious moral weakness of reproductive ‘surrogacy’ is that it can be harmful to the children who are created. This article presents a proposal for mitigating this weakness. Currently, the practice of commercial ‘surrogacy’ operates only in the interests of the adults involved (the gestator and the commissioning individuals who employ her), not in the interests of the child who is created. Whether ‘surrogacy’ is seen as the purchase of a baby, the purchase of parental rights, or the purchase of reproductive labor, all three views share the same significant flaws. They endorse the transfer, for a fee, of the infant from the woman who gestated it to those who commissioned it, but without justifying such a transfer; they fail to demonstrate that the commissioners have any entitlement to the infant, or, for that matter, suitability to be the infant's parents; and they fail to take any notice of the infant's needs, interests, and wellbeing. A mere genetic connection is not enough to establish that the commissioners are entitled to receive the baby or that they are competent to raise it. Their good intentions, however caring, are not enough. Therefore, just as in the practice of adoption, there should be a formal institutionalized system for screening and licensing the prospective social parents, which would make the infant's needs, interests, and wellbeing paramount. I reply to several potential objections to this proposal, including the objection that genetic parents who raise their own child are not screened and licensed.     

Genes, embryos, and future people

Testing embryonic cells for genetic abnormalities gives us the capacity to predict whether and to what extent people will exist with disease and disability. Moreover, the freezing of embryos for long periods of time enables us to alter the length of a normal human lifespan. After highlighting the shortcomings of somatic-cell gene therapy and germ-line genetic alteration, I argue that the testing and selective termination of genetically defective embryos is the only medically and morally defensible way to prevent the existence of people with severe disability, pain and suffering that make their lives not worth living for them on the whole. In addition, I consider the possible harmful effects on children born from frozen embryos after the deaths of their biological parents, or when their parents are at an advanced age. I also explore whether embryos have moral status and whether the prospects for disease-preventing genetic alteration can justify long-term cryopreservation of embryos.     

A gene's-eye view of symbiont transmission

Symbiotic associations between species are ubiquitous, but we only poorly understand why some symbioses evolve to be mutualistic and others to be parasitic. One prominent hypothesis holds that vertical transmission of symbionts from host parents to their offspring selects for symbionts that are benign or beneficial, while horizontal transmission of symbionts among unrelated hosts selects for symbionts that are less beneficial or outright harmful. A long-standing challenge to this hypothesis, however, is the existence of selfish genetic elements (SGEs). SGEs are passed exclusively from parent to offspring and are able to spread and persist in populations despite reducing the fitness of their hosts. Here I show that SGEs are in fact consistent with the transmission mode hypothesis if one measures transmission from the perspective of host genes instead of host organisms. Both meiotic drive genes and cytoplasmic sex ratio distorters require horizontal transmission, in the form of outbred sex, to spread as parasites. Transmission from parent to offpsring does not constrain SGEs to evolve toward mutualism. The gene-centered perspective I present here is applicable to symbioses at all levels of selection and brings closer together our understandings of cooperation within and between species.