An increase in autonomy and freedom is often considered one ofthe main arguments in favour of a broad use of genetic testing.Starting from Gerald Dworkin's reflections on autonomy and choicethis article examines some of the implications which accompanythe increase in choices offered by prenatal genetic diagnosis.Although personal autonomy and individual choice are importantaspects in the legitimation of prenatal genetic diagnosis, itseems clear that an increase in choice offered by prenatalgenetic diagnosis also leads (...) to various implications that maynegatively influence the freedom of the persons involved. (shrink)

ABSTRACT Research groups around the world are developing non‐invasive methods of prenatal genetic diagnosis, in which foetal cells are obtained by maternal blood test. Meanwhile, an increasing number of genetic tests are sold directly to the public. I extrapolate from these developments to consider a scenario in which PNGD self‐testing kits are sold directly to the public. Given the opposition to over‐the‐counter genetic tests and the continuing controversy surrounding PNGD, it is reasonable to expect objections (...) to PNGD self‐testing kits. I focus on one potential objection, that PNGD self‐testing kits would undermine the autonomy of potential test subjects. More specifically, that ‘direct to the public’ PNGD would fail to ensure that consumers exercise autonomy in the following PNGD‐related choices: • Should I use PNGD? • Based on the results of the PNGD test, should I continue or terminate my pregnancy? Under the current system, PNGD is provided by health care practitioners, who are required to counsel women both before and after the test. In contrast, ‘direct to the public’ PNGD would allow women to make their PNGD‐related decisions outside the context of the health care system. I compare these two decision‐making contexts, arguing that the health care system is not unequivocally better at promoting the autonomy of potential test subjects. Therefore the promotion of autonomy does not constitute a strong argument against such test kits. Other objections may be more persuasive, so I do not offer an overall assessment of the acceptability of ‘direct to the public’ PNGD. (shrink)

To what extent should parents be able to choose the kind of child they have? The unfortunate phrase 'designer baby' has become familiar in debates surrounding reproduction. As a reference to current possibilities the term is misleading, but the phrase may indicate a societal concern of some kind about control and choice in the course of reproduction. Typically, people can choose whether to have a child. They may also have an interest in choosing, to some extent, the conditions under which (...) they do so, such as whether they have a child with a serious disability or disease. The purpose of this book is to explore the difficult and controversial question of the appropriate ethical and legal extent of reproductive autonomy in this context. The book examines ethical, legal and public policy issues in prenatal screening, prenatal diagnosis (PND), selective abortion and preimplantation genetic diagnosis (PGD). It explores the ethics of these selection practices and the ability of current ethical guidelines and legal mechanisms, including the law on selective abortion and wrongful birth, to deal with advances in genetic and other knowledge in these areas. Unlike in the United States, in England the relevant law is not inherently rights-based, but the impact of the Human Rights Act 1998 inevitably raises questions about the proper scope of reproductive autonomy in this context. The implications of the analysis are considered for the development of relevant law, public policy and ethical guidelines and will be of interest to academics in medical law and ethics, health professionals, lawyers, those working on public policy and students with an interest in these issues. (shrink)

Noninvasive prenatal testing promises to enhance women's reproductive autonomy by providing genetic information about the fetus, especially in the detection of genetic impairments like Down syndrome. In practice, however, NIPT provides opportunities for intensified manipulation and control over women's reproductive decisions. Applying Miranda Fricker's concept of epistemic injustice to prenatal screening, this article analyzes how medical professionals impair reproductive decision-making by perpetuating testimonial injustice. They do so by discrediting positive parental testimony about what it is like (...) to raise a child with DS. We argue that this testimonial injustice constitutes a twofold harm: people with DS and their family members who claim that parenting a child with DS may be a rewarding and joyous experience are harmed when they are systematically silenced, disbelieved, and/or denied epistemic credibility by medical professionals, and pregnant women are harmed since they might make poorly informed choices without access to all relevant information. The broader implication of the analysis is that epistemic justice is a precondition of reproductive autonomy. We conclude by calling for federal oversight of the acquisition and dissemination of information that prospective parents receive following a positive diagnosis of DS to ensure that it is comprehensive and up to date. (shrink)

Preimplantation genetic diagnosis (PID) is often seen as an improvement upon prenatal testing. I argue that PID may exacerbate the eugenic features of prenatal testing and make possible an expanded form of free-market eugenics. The current practice of prenatal testing is eugenic in that its aim is to reduce the numbers of people with genetic disorders. Due to social pressures and eugenic attitudes held by clinical geneticists in most countries, it results in eugenic outcomes (...) even though no state coercion is involved. I argue that technological advances may soon make PID widely accessible. Because abortion is not involved, and multiple embryos are available, PID is radically more effective as a tool of genetic selection. It will also make possible selection on the basis of non-pathological characteristics, leading, potentially, to a full-blown free-market eugenics. For these reasons, I argue that PID should be strictly regulated. (shrink)

Prenatal diagnosis, especially noninvasive prenatal testing, has changed the experience of pregnancy, prenatal care and responsibilities in Israel and Germany in different ways. These differences reflect the countries' historical legacies, medico-legal policies, normative and cultural identities. Building on this observation, the contributors of this book present conversations between leading scholars from Israel and Germany based on an empirical bioethical perspective, analyses about the reshaping of 'life' by biomedicine, and philosophical reflections on socio-cultural claims and epistemic horizons (...) of responsibilities. Practices and discussions of reproductive medicine transform the concepts of responsibility and irresponsibility. (shrink)

The prelims comprise: Introduction Better Alternative Than Abortion? The Morality of Prenatal Diagnosis Prenatal Genetic Testing as Prevention The Line‐drawing Question Conclusion Note.

Preimplantation genetic diagnosis (PGD) raises serious moral questions concerning the parent-child relationship. Good parents accept their children unconditionally: they do not reject/attack them because they do not have the features they want. There is nothing wrong with treating a child as someone who can help promote some other worthwhile end, providing the child is also respected as an end in him or herself. However, if the child's presence is not valued in itself, regardless of any further benefits it (...) brings, the child is not being treated as an end in the full sense of the term. In this paper, I argue that these principles apply to human embryos, as well as to born human offspring: the human moral subject is a bodily being, whose interests and rights begin with the onset of his or her bodily life. The rights of the living, bodily human individual include a right not to be attacked/abandoned because of his or her genetic profile. PGD is harmful to the parent-child relationship, and we give mixed messages to parents by expecting them to show unconditional commitment to offspring after birth, while inviting them to take a very different approach at the prenatal stage. (shrink)

This article gives an overview about the ethical dispute on preimplantation genetic diagnosis (PGD), its legal status and its practical usage in Europe. We provide a detailed description of the situation in Germany wherein prenatal diagnosis is routinely applied, but PGD is prohibited on the basis of the internationally unique embryo protection act (EPA) that was put into force in 1991. Both PGD and stem cell research were vigorously debated in Germany during the last four years. (...) As regards the PGD debate specifically, the voices of the ones directly affected were not adequately taken into consideration. We describe the predominant lines of argumentation in this debate and some essential results of our "bioethical field study" of opinions on and usage of PGD in Germany and their implications for the German legislation and ethical theory. (shrink)

ZusammenfassungAm 1. Februar 2010 ist das Gendiagnostikgesetz in Kraft getreten. Die Debatte um einige Regelungsbereiche, wie beispielsweise das Neugeborenenscreening, reißt nicht ab. Ein Aspekt des Gesetzes ist im Rahmen der Debatte um die Präimplantationsdiagnostik in Deutschland unter neuen Vorzeichen zu diskutieren: Das – international bislang einzigartige – Verbot der pränatalen Diagnostik so genannter spätmanifestierender Erkrankungen, die erst nach der Vollendung des 18. Lebensjahres ausbrechen. In diesem Beitrag möchten wir Hinweise zur differenzierten Diskussion dieser in § 15 GenDG bestimmten Verbotsnorm liefern. (...) Obgleich Argumente, insbesondere das Recht auf Nichtwissen des geborenen Kindes, für ein solches Verbot sprechen, kommen wir aufgrund der medizinischen Sachlage und nach einer Analyse der Pro- und Kontraargumente aus ethischer und rechtlicher Sicht zu dem Schluss, dass ein generelles Verbot der pränatalen Diagnostik spätmanifestierender Erkrankungen im Sinne der Zielsetzung womöglich insuffizient ist sowie in der Begründung Inkonsistenzen zum bereits bestehenden Regelwerk aufweist, und lenken daher den Blick auf unter Umständen bessere Alternativen. (shrink)

Preimplantation genetic diagnosis is a new method of prenatal diagnosis that is developing from a union of in vitro fertilization technology and molecular biology. Briefly stated, PGD involves the creation of several embryos in vitro from the eggs and sperm of an interested couple. The embryos are permitted to develop to a 6-to-10-cell stage, at which point one of the embryonic cells is removed from each embryo and the cellular DNA is analyzed for chromosomal abnormalities or (...) genetic mutations. An embryo or several embryos found to be free of genetic abnormalities are subsequently transferred to the woman's uterus for gestation. Embryos found to carry a genetic abnormality are discarded or frozen. Extra normal embryos may be frozen for future transfer or donation to another couple. (shrink)

Preimplantation genetic diagnosis is a new method of prenatal diagnosis that is developing from a union of in vitro fertilization technology and molecular biology. Briefly stated, PGD involves the creation of several embryos in vitro from the eggs and sperm of an interested couple. The embryos are permitted to develop to a 6-to-10-cell stage, at which point one of the embryonic cells is removed from each embryo and the cellular DNA is analyzed for chromosomal abnormalities or (...) genetic mutations. An embryo or several embryos found to be free of genetic abnormalities are subsequently transferred to the woman's uterus for gestation. Embryos found to carry a genetic abnormality are discarded or frozen. Extra normal embryos may be frozen for future transfer or donation to another couple. (shrink)

With pre-implantation genetic diagnosis (PGD), genetic testing and selective transfer of embryos is possible. In the future, germ-line gene therapy (GLGT) applied to embryos before implantation, in order to introduce missing genes or replace mutant ones, may be possible. The objective of this dissertation is to analyse moral aspects of these technologies, as described by eighteen British, Italian and Swedish gynaecologists and geneticists. The objective is systematised into three parts: research interviews and qualitative analysis, philosophical analysis, and (...) elaboration of a framework that supports the combination of analytic methods. PGD was described as positive since it enabled some couples at risk for a genetic disease to have a child without the disease. PGD was described as in different senses ‘better’ than methods for prenatal diagnosis and selective termination of pregnancy. It was also described as positive since it provided couples at risk with one more option, even if it did not result in the birth of a healthy child. However, interviewees were concerned about the difficulty of defining and evaluating genetic disease. They were also concerned about patients’ choices, and about exaggerated use or misuse. Whereas PGD gave rise to ambivalence in terms of how to understand, describe and evaluate it, GLGT was often described as unrealistic or undesirable. The results of the qualitative analysis are used in a philosophical analysis of the concepts of choice, autonomous choice, ambivalence, trust and ambivalence in trust relations. A set of distinct characteristics of each concept are elaborated. The results of the philosophical analysis are used in the discussion of the results of the qualitative analysis. The study shows that the technologies imply both ‘new’ ways to perform ‘old’ medical practices and ‘new’ practices. Old moral questions are reformulated. New moral questions are added. Against the background of this, the concept of genetic identity is discussed. Key words: empirical ethics, pre-implantation genetic diagnosis, germ-line gene therapy, qualitative research, philosophical analysis, medical progress, genetic disease, choice, autonomous choice, ambivalence, trust, genetic identity. (shrink)

Is it justified to detect minor genetic aberrations before birth and terminate pregnancies based upon such information? We present the case of a woman who wanted Prenatal Diagnosis to detect whether her female fetus was a Haemophilia mutation carrier. Such carriers are usually healthy.She wished to eradicate the Haemophilia mutation from her family to avoid future generations being affected and to protect her children from having to go through PND themselves. We explore existing practice guidelines, public attitudes (...) and possible objections to providing PND for minor abnormalities. We argue that in a society where couples have considerable autonomy relating to decisions about the fetus at least until viability, the routine restriction of PND for minor genetic abnormalities would be an unjust infringement of individual liberty. (shrink)

When a person at risk of having a child with a genetic illness or disease wishes to have an unaffected child, this can involve difficult choices. If the pregnancy is established by sexual intercourse, the fetus can be tested early in pregnancy, and if affected a decision can be made to abort in the hope that a future pregnancy with an unaffected fetus ensures. Alternatively, preimplantation genetic diagnosis can be used after in vitro fertilisation to select and (...) implant an unaffected embryo that hopefully will proceed to term and produce a healthy baby. We are aware that many individuals at risk regard the latter as ethically more acceptable than the former, and examine whether there is an ethical difference between these options. We conclude that PGD and implantation of an unaffected embryo is a more acceptable choice ethically than prenatal diagnosis followed by abortion for the following reasons: Choice after PGD is seen as ethically neutral because a positive result balances a negative result simultaneously . While there is usually the intention to establish a healthy pregnancy after an abortion, this is not simultaneous; A woman sees abortion as a personal physical violation of her integrity, and as the pregnancy proceeds she increasingly identifies with and gives ethical status to the embryo/fetus as it develops in utero and not in the laboratory; Many people see aborting a fetus as “killing”, whereas in the case of PGD the spare embryos are “allowed to die”. We argue that this difference of opinion gives further weight to our conclusion, but note that this has been addressed and debated at length by others. (shrink)

Prenatal Diagnosis (PD) includes diagnostic procedures carried out during the antenatal period, together with Preconception Screening (PS) of prospective parents, and prenatal genetic diagnosis (PGD). The purpose of all these procedures is to provide prospective parents with opportunities to decide whether or not to have a child who will be diseased or disabled. Selection decisions determine what kinds of children are brought into existence; the ability to make these decisions is of huge ethical significance. It (...) raises connected questions about discrimination, the social status of disabled people and the medicalisation of disability; patient vulnerability and the power of the medical and counselling professions to influence decision-making; and the conceptualisation of selection as a public health measure and even as eugenic. In this paper, I outline the ethical issues raised by prenatal diagnosis and describe some of the arguments which have been elaborated in relation to the permissibility of selecting against (and occasionally for) diseases and disabilities. I conclude that there are no good arguments against the prevention of disability through PD but that providing adequate information for decision-making and facilitating uncoerced individual decisions requires further attention. (shrink)

The 20th century eugenics movement in the USA and contemporary practices involving prenatal screening (PNS), prenatal diagnosis (PND), abortion and preimplantation genetic diagnosis (PGD) share important morally relevant similarities. I summarise some features of the 20th century eugenics movement; describe the contemporary standard of care in the USA regarding PNS, PND, abortion and PGD; and demonstrate that the ‘old eugenics’ the contemporary standard of care share the underlying view that social resources should be invested to (...) prevent the birth of people with certain characteristics. This comparison makes evident the difficulty of crafting moral arguments that treat some uses of PNS, PND, abortion and PGD as licit and others as illicit. (shrink)

Die Geschichte der genetischen Pränataldiagnostik ist bislang als Teil der Geschichte der Humangenetik und deren Neuorientierung als klinisch-laborwissenschaftliche Disziplin in der zweiten Hälfte des 20. Jahrhunderts betrachtet worden. Anhand neuen Quellenmaterials soll in diesem Beitrag gezeigt werden, dass das Interesse an der Pränataldiagnostik in Westdeutschland auch im Kontext von Forschungen entstand, die sich mit Gefahren für den Menschen in der Umwelt befassten. Anhand der Debatten um die Einrichtung des DFG-Schwerpunktprogramms „Pränatale Diagnostik genetischer Defekte“ 1970 untersuchen wir, wie die Technik der (...) Amniozentese in Westdeutschland von einer interdisziplinären Forschungsgruppe eingeführt wurde, die sich mit Schädigungen des Organismus durch Strahlen, Arzneimittel und andere Gebrauchsstoffe und Konsumgüter befasste. In einer als ökologische Wende bezeichneten Zeit wachsenden Umweltbewusstseins, so unsere These, sollte durch die Förderung der Pränataldiagnostik eine wahrgenommene Lücke in der Prävention umweltbedingt auftretender genetischer Anomalien geschlossen werden. Für die Pränataldiagnostik als „Schutzmaßnahme“ sprach unter anderem ihre erwartete Finanzierung als Krankenkassenleistung im Zuge der Reform des Abtreibungsrechts. Erst in einem zweiten Schritt führten Veränderungen von Strukturen der Forschung, vor allem aber Erfahrungen in der gynäkologischen Praxis zu einer Neuausrichtung auf die Diagnostik und Prävention mehrheitlich erblicher oder spontan auftretender Anomalien. Die Pränataldiagnostik, so wie sie schließlich in Westdeutschland ab den frühen 1980er Jahren routinemäßig Einsatz fand, hatte mit Fragen der „Umwelt“ kaum noch zu tun. Diese Fallstudie zur Frühgeschichte der genetischen Pränataldiagnostik handelt von dem noch wenig untersuchten Verhältnis von humangenetischer Forschung, klinischer Praxis und Umweltforschung und hat zum weiteren Ziel, den bisher in anderen Kontexten beschriebenen Wandel von Perspektiven in der Vorsorge um 1970 zu beleuchten. (shrink)

El diagnóstico prenatal como opción reproductiva más difundida a nivel mundial se refiere a métodos para investigar la salud del feto. Entre sus objetivos está la detección de malformaciones congénitas en la vida fetal y permitir la interrupción del embarazo. Un enfoque ético, basado en el respeto por las personas y a la confidencialidad, evitando el daño y respetando la autonomía, son las claves de un asesoramiento genético óptimo. Se realizó una revisión bibliográfica con el objetivo de exponer algunas (...) consideraciones éticas en la práctica asistencial de la genética médica, a partir de los principios fundamentales de la bioética vinculados al diagnóstico prenatal y al proceso de asesoramiento genético, ya que estos aspectos éticos en la práctica de la genética médica es una temática relativamente joven que ha estado influida por el desarrollo de la bioética y la solución de los dilemas éticos y sociales en la práctica médica. Prenatal diagnosis, as the world widest spread reproductive option, refers to fetus health research methods. Fetal life congenital malformation detection and allowing termination of pregnancy are among its main objectives. An ethical approach, based on respect for people and for confidentiality, avoiding hurt and respecting autonomy, is the key towards optimum genetic counseling. A bibliographic review was conducted. Its objective is to set out some ethical considerations in medical genetics health care practice starting from bioethics fundamental principles, which are linked to prenatal diagnosis and to the genetic counseling process; since dealing with issues related to these ethical aspects in medical genetics practice is a relatively new subject that has been influenced by the development of bioethics and the solution to ethical and social dilemmas in medical practice. (shrink)

Prenatal diagnosis utilizes invasive procedures such as amniocentesis, chorionic villus sampling, cord blood sampling and pre-implantation genetic diagnosis. These techniques can diagnose serious foetal illnesses and this therefore provides valuable information to couples, helping them to prepare for the birth of an affected child. It also affords women the freedom to decide whether to terminate a pregnancy. The selective termination of foetuses with serious disabilities does not represent disability discrimination because women and parents are actually rejecting (...) the disability, rather than the foetus itself More significantly, the choice to abort a foetus with a serious illness or disability is an intensely private and personal exercise that does not and cannot be reflective of a wider public morality. Exactly the same can be said of the choice to selectively abort foetuses based solely on their sex. The private choice of women in this respect does not amount to the social devaluation of women. Firstly, it is an erroneous assumption that women in Australia prefer male babies. Secondly, even if there is a preference for male babies, banning prenatal sex selection would be treating just one of many symptoms of sexism, rather than curing the primary causes. The moral right of all women to reproductive freedom is an embodiment of their equal value in society. (shrink)

Today, French public debate and bioethics research reflect an ongoing controversy about eugenics. The field of reproductive medicine is often targeted as pre-implantation genetic diagnosis (PGD), prenatal diagnosis, and prenatal detection are accused of drifting towards eugenics or being driven by eugenics considerations. This article aims at understanding why the charge against eugenics came at the forefront of the ethical debate. Above all, it aims at showing that the charge against prenatal diagnosis is (...) groundless. The point of view presented in this article has been elaborated jointly by a geneticist and a philosopher. Besides a survey of the medical, bioethical, philosophical and social sciences literature on the topic, the methodology is founded on a joint analysis of geneticist’s various consults. Evidence from office visits demonstrated that prenatal diagnosis leads to case-by-case decisions. As we have suggested, this conclusion does not mean that prenatal diagnosis is devoid of ethical issues, and we have identified at least two. The first is related to the evaluation of a decision to abort. The second line of ethical questions arises from the fact that the claim for “normality” hardly hides normative and ambiguous views about disability. As a conclusion, ethical dilemmas keep being noticeable in the field of reproductive medicine and genetic counselling, but an enquiry about eugenic tendencies probably does not allow us to understand them in the proper way. (shrink)

This article presents a part of the results of an empirical study conducted at a Parisian hospital between 2011 and 2014. It aimed at understanding the women and couples’ motivations to terminate or not a pregnancy once a prenatal diagnosis has revealed a genetically related disease in the embryo or fetus. The article first presents the social and legal context of the study, the methodology used and the pathologies that were encountered. Then, it examines the results of the (...) interviews conducted with 5 women alone and 23 couples explaining their reasons for deciding to terminate or not the pregnancy. Finally, it explores the patients’ views about the doctor’s involvement in the decision-making process. The findings reveal the reasons they formulate when they ponder whether to terminate or not the pregnancy. It highlights the process of their deliberation, their hierarchisation of arguments and concerns. They also show how patients, though often consumed in sorrow, claim to be the legitimate decision-makers, especially women, in a social and legal context in which the rejection of eugenics is viewed as an undisputable principle. (shrink)

The ethical guidelines for prenatal diagnosis proposed by the World Health Organisation , as well as by national regulations, only refer to paternity and gender of the fetus as unacceptable, disease-unrelated criteria for prenatal selection, as no other such parameters are at hand so far. This perspective is too narrow because research on complex genetic systems such as cognition and ageing is about to provide clinically applicable tests for genetic constituents of potentially desirable properties such (...) as intelligence or longevity which could be misused as parameters for prenatal diagnosis. Moreover, there is an increasing number of prenatally testable genetic traits, such as heritable deafness, which are generally regarded as pathological but desired by some prospective parents and taken into account as parameters for pro-disability selection. To protect prenatal diagnosis from ethically unacceptable genetic consumerism, guidelines must be clarified as soon as possible and updated towards a worldwide restriction of prenatal genetic testing to immediately disease-determining traits. (shrink)

The development and implementation of prenataldiagnosis has changed the experience of pregnancy for many women. How women make decisions about prenatal diagnosis PD is an important question that challenges us both individually and as a community. The questionof care is central to many women's decision-making process. How much care a child will require, how much care a woman feels confident to provide, and the level of care available for children with genetic conditionsand families from their communities all (...) impact on women's decisions to undertake prenatal diagnosis as well as how to use the information available from testing. Interviews with women making these decisions explored, among otherthings, the role that caring and access to care played in women's ethical deliberations. Before PD can widen women's reproductive choices and counter criticisms that its use is eugenically oriented, the central role that provision of, and access to, care holds for participants in PD programmes must be acknowledged and addressed. (shrink)

Detection of genetic aberrations in prenatal samples, obtained through amniocentesis or chorion villus biopsy, is increasingly performed using chromosomal microarray, a technique that can uncover both aneuploidies and copy number variants throughout the genome. Despite the obvious benefits of CMA, the decision on implementing the technology is complicated by ethical issues concerning variant interpretation and reporting. In Belgium, uniform guidelines were composed and a shared database for prenatal CMA findings was established. This Belgian approach sparks discussion: it (...) is evidence-based, prevents inconsistencies and avoids parental anxiety, but can be considered paternalistic. Here, we reflect on the cultural and moral bases of the Belgian reporting system of prenatally detected variants. (shrink)

Prenatal genetic diagnosis with new high-performance technologies such as genomic array adds great complexity to the ethical dilemmas that already exist in current medicine. The main objective of this study was to carry out an analysis and bioethical reflections centred on the outcome associated with the use of the genetic array technique in 185 pregnancies at the Hospital Universitario y Politécnico La Fe (Valencia, Spain). It is an observational, descriptive and cross-sectional study during the years 2014 (...) to 2017, inclusive. We analyse the results and the follow-up of the 185 cases in which this prenatal genetic study was carried out by array technique. Of the 185 prenatal genetic studies carried out, 165 showed no copy number variants (normal result) and in the 20 remaining pregnancies (10.81%), a dose change was detected. Abortion was carried out in 11 cases with pathological and/or probably pathological abnormalities. Of the 165 cases in which no dose variant was detected, an abortion was carried out in 49 cases, which represents 29.7%. The introduction of new genomic analysis techniques to invasive prenatal diagnosis highlights the ethical problems that arise above all in the interpretation of genetic variants detected and genetic counselling, while emphasising the need for correct informed consent and it adds, if possible, more controversy to a subject with great bioethical substance such as abortion. (shrink)

In this new post-genomic age of medicine and biomedical technology, there will be novel approaches to understanding disease, and to finding drugs and cures for diseases. Hundreds of new “disease genes” thought to be the causative agents of various genetic maladies will be identified and added to the list of hundreds of such genes already identified. Based on this knowledge, many new genetic tests will be developed and used in genetic screening programs. Genetic screening is the (...) foundation upon which reproductive technologies such as pre-natal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are based. Genetic information arising from the human genome may also be used in attempts to redesign the human genetic inheritance by engineering the human germline (germline engineering). In each of these technologies—PND, PGD, and germline engineering—there are serious ethical and social concerns. Moreover, all three are eugenic in nature because they strive to control which genes are passed down to future generations. The goals of this article are threefold: 1) to introduce the science behind the three technologies; 2) to give a brief overview of eugenics in the past century and show how these genetic technologies are eugenic; and 3) to present a vision of social justice that rejects the genetic determinism upon which eugenics is based and embraces a holistic, ecological view of nature and humanity. (shrink)

Recently, an agonizing twist intersecting predictive genetic tests and surrogacy contracts made news headlines in Canada. The intended parents, a couple from British Columbia, instructed the surrogate mother with whom they were working to undergo First Trimester Screening and Chorionic Villi Sampling, which revealed the fetus likely had Down syndrome. The parents directed the surrogate to terminate the fetus or they would abdicate their parental claim upon birth. This story raised numerous legal and ethical questions relating to the transferability (...) of decision making for prenatal screening, diagnostic tests, and the connected decision of termination when additional interested parties – the intended parents – are involved in the medical decision-making relationship. First, although the surrogate is the patient, what are the implications when the intended parents' wishes influence or even dictate the relationship between her and her obstetrician and genetic counselor? Second, if the intended parents' level of authority reaches explicit demands, may the intended parents ethically and legally require the surrogate to waive her right to informed consent for prenatal screening and diagnosis? (shrink)

The idea that a world in which everyone was born “perfect” would be a world in which something valuable was missing often comes up in debates about the ethics of technologies of prenatal testing and preimplantation genetic diagnosis . This thought plays an important role in the “disability critique” of prenatal testing. However, the idea that human genetic variation is an important good with significant benefits for society at large is also embraced by a wide (...) range of figures writing in the bioethics literature, including some who are notoriously hostile to the idea that we should not select against disability. By developing a number of thought experiments wherein we are to contemplate increasing genetic diversity from a lower baseline in order to secure this value, I argue that this powerful intuition is more problematic than is generally recognized, especially where the price of diversity is the well-being of particular individuals. (shrink)

Prenatal care and the practice of prenatal genetic testing are about to be changed fundamentally. Due to several ground-breaking technological developments prenatal screening and diagnosis (PND) will soon be offered earlier in gestation, with less procedure-related risks and for a profoundly enlarged variety of targets. In this paper it is argued that the existing normative framework for prenatal screening and diagnosis cannot answer adequately to these new developments. In concentrating on issues of informed (...) consent and the reproductive autonomy of the pregnant women the ethical debate misses problems related to the clinical pathway as a whole and to implicit normative attributions to clinical actions or the function of health care professionals. If, however, ethical debate would focus on the clinical context and on the ends of PND to a larger extent, it would be able to provide a more comprehensive analysis of the ethical challenges especially of the new technologies in order to be more adequately prepared for their implementation. (shrink)

In 1969, the field of human genetics was in its infancy. Amniocentesis was a new technique for prenatal diagnosis, and a newborn genetic screening program had been established in one state. There were also concerns about the potential hazards of genetic engineering. A research group at the Hastings Center and Paul Ramsey pioneered in the discussion of genetics and bioethics. Two principal techniques have emerged as being of enduring importance: human gene transfer research and genetic (...) testing and screening. This essay tracks the development and use of these techniques and considers the ethical issues that they raise. (shrink)

Non-invasive prenatal testing is an emerging form of prenatal genetic testing that provides information about the genetic constitution of a foetus without the risk of pregnancy loss as a direct result of the test procedure. As with other prenatal tests, information from NIPT can help to make a decision about termination of pregnancy, plan contingencies for birth or prepare parents to raise a child with a genetic condition. NIPT can also be used by women (...) and couples to test purely ‘for information’. Here, no particular action is envisaged following the test; it is motivated entirely by an interest in the result. The fact that NIPT can be performed without posing a risk to the pregnancy could give rise to an increase in such requests. In this paper, we examine the ethical aspects of using NIPT ‘purely for information’, including the competing interests of the prospective parents and the future child, and the acceptability of testing for ‘frivolous’ reasons. Drawing on several clinical scenarios, we claim that arguments about testing children for genetic conditions are relevant to this debate. In addition, we raise ethical concerns over the potential for objectification of the child. We conclude that, in most cases, using NIPT to test for adult-onset conditions, carrier status or non-serious traits presenting in childhood would be unacceptable. (shrink)

This paper calls fresh attention to ethical problems surrounding prenatal testing by focusing on genetic knowledge gained through evolving testing procedures. Advances in reproductive and prenatal genetic testing include non-invasive tests, such as Verifi and Materniti21, designed to gather detailed information regarding fetal DNA as early as 10 weeks. Meanwhile, a new method of chromosomal microarray has proved more reliable than karyotyping in detecting fetal abnormality. This method detects abnormalities in 1 out of every 60 pregnancies (...) in which karyotyping identified the fetus as “normal.” Chromosomal microarray directly compares fetal DNA to DNA from a presumptively “healthy person” to identify genetic deviations. The chromosomal microarray method thus assumes a human genetic blueprint—that is, a normal genotype, deviance from which is risky and open to medical diagnosis. But, according to philosopher and geneticist Jackie Leach Scully, there is no genetic blueprint for human beings. Rather, genetic variation is constant. Thus, notes Scully, genetic discourse could free medical discourse from the dictates of the binary between normal and abnormal, although mistaken belief in a genetic blueprint can foil this alternative way of speaking and thinking. Prenatal testing has received critical philosophical attention from both disability theorists and feminists. Adrienne Asch suggests that prenatal testing and diagnosis stigmatizes already-existing persons with disabilities by suggesting that bodily deviance is intolerable. Licia Carlson coined the phrase “prenatal prototypes” to describe the obfuscating results of genetic profiling carried out on the fetus. The philosophical conversation Asch and Carlson stimulate involves higher stakes now that testing uncovers fetal genotype and reveals mere genetic deviation in order to aid reproductive decision-making. I argue that prenatal testing, and especially the most recently developed testing procedures described above, forecloses Scully’s alternative discourse of genetic variation by supporting an ideal of a singular “healthy genotype,” deviance from which is to be uncovered and avoided. Mobilizing this insight by drawing on the work of feminist disability scholars like Asch and Carlson, I seek to foreground the play between norm and deviance. I expose the normalizing field of statistical risk, operating in excess of medical diagnosis, which requires potential parents to manage and avoid deviance itself. (shrink)

Probably the main purpose of reproductive technologies is to enable people who choose to do so to avoid the birth of a baby with a disabling condition. However the conditions women want information about and the ‘price’ they are willing to pay for obtaining that information vary enormously. Individual women have to arrive at their own prenatal testing choices by ‘trading off’ means and ends in order to resolve the dilemmas facing them. We know very little about how individuals (...) make these trade-offs, so it is difficult to predict how new technologies will affect their choices and preferences. Uptake decisions can be expected to change, especially in the group of women who now are put off by some aspect of the current screening approach, where the avoidance of miscarriage risk may have provided a kind of ‘psychological shelter’, protecting a lot of people from having to make other decisions. Technologies such as Pre-implantation Genetic Diagnosis may remove a second ‘psychological shelter’ because they offer the means of avoiding the birth of an affected child without terminating a pregnancy. Even if new technologies will make some decisions easier in terms of their cognitive demands, they will also create new dilemmas and decision making will not necessarily become less stressful in emotional terms. Key challenges concern information and decision-making. (shrink)

The practice of prenatal diagnosis has brought with it the utilization of pregnancy termination as a preventive approach. In this paper the genetic/teratologic, fetal and maternal indications for termination of pregnancy used in Hungary are described, as well as the legal requirements and the proposed mode of termination at the different stages of gestation. The author is the director of the largest prenatal genetic counseling service in Hungary. Keywords: elective abortion, medico-legal aspects, prenatal (...) class='Hi'>diagnosis, genetic disorders, Hungary, bioethics CiteULike Connotea Del.icio.us What's this? (shrink)

The structure of our ethical experience depends, crucially, on a fundamental distinction between what we are responsible for doing or deciding and what is given to us. As such, the boundary between chance and choice is the spine of our conventional morality, and any serious shift in that boundary is thoroughly dislocating. Against this background, I analyze the way in which techniques of prenatal genetic diagnosis (PGD) pose such a fundamental challenge to our conventional ideas of justice (...) and moral responsibility. After a short description of the situation, I first examine the influential luck egalitarian theory of justice, which is based on the distinction between choice and luck or, more specifically, between option luck and brute luck, and the way in which it would approach PGD (section II), followed by an analysis of the conceptual incoherencies (in section III) and moral problems (in section IV) that come with such an approach. Put shortly, the case of PGD shows that the luck egalitarian approach fails to express equal respect for the individual choices of people. The paradox of the matter is that by overemphasizing the fact of choice as such, without regard for the social framework in which they are being made, or for the fundamental and existential nature of particular choices—like choosing to have children and not to undergo PGD or not to abort a handicapped fetus—such choices actually become impossible. (shrink)

A new landscape of prenatal testing is presently developing, including new techniques for risk-reducing, non-invasive sampling of foetal DNA and drastically enhanced possibilities of what may be rapidly and precisely analysed, surrounded by a growing commercial genetic testing industry and a general trend of individualization in healthcare policies. This article applies a set of established ethical notions from past debates on PNT for analysing PNT screening-programmes in this new situation. While some basic challenges of PNT stay untouched, the (...) new development supports a radical individualization of how PNT screening is organized. This reformation is, at the same time, difficult to reconcile with responsible spending of resources in a publicly funded healthcare context. Thus, while the ethical imperative of individualization holds and applies to PNT, the new landscape of PNT provides reasons to start rolling back the type of mass-screening programmes currently established in many countries. Instead, more limited offers are suggested, based on considerations of severity of conditions and optimized to simultaneously serve reproductive autonomy and public health within an acceptable frame of priorities. The new landscape of PNT furthermore underscores the ethical importance of supporting and including people with disabilities. For the very same reason, no ban on what may be analysed using PNT in the new landscape should be applied, although private offers must, of course, conform to strict requirements of respecting reproductive autonomy and what that means in terms of counselling. (shrink)

I note with interest the Controversy regarding a baby born free of an inherited predisposition to early onset Alzheimer’s disease through the use of preimplantation genetic diagnosis .1,2 As the medical geneticist for the PGD programme for single gene disorders in Melbourne, Australia, I have seen many couples who have considered PGD for a wide range of genetic conditions. My observation is that many couples look to PGD for “milder” conditions and adult onset conditions for which they (...) are not comfortable to have traditional prenatal diagnosis and termination of pregnancy.An example of this is that in the last 11 years our unit has undertaken 13 prenatal diagnoses for Huntington’s disease from nine couples, whereas in the two years that we have been offering it we have had six requests for PGD for Huntington’s disease and three couples …. (shrink)

This chapter contains sections titled: Information Management: Confidentiality, Autonomy and Non‐Directiveness Predictive Genetic Testing Childhood Genetic Testing Genetic Screening Informed Consent to Screening Newborn Screening Carrier Screening Prenatal Screening Susceptibility Screening Further Information Management Goals of Genetic Screening: Public Health vs Individual Choice Conclusion References Further reading.

The Direction of Medical Ethics The direction bioethics, and specifically medical ethics, will take in the next few years will be crucial. It is an emerging specialty that has attempted a great deal, that has many differing agendas, and that has its own identity crisis. Is it a subspecialty of clinical medicine? Is it a medical reform movement? Is it a consumer pro tection movement? Is it a branch of professional ethics? Is it a ra tionale for legal decisions and (...) agency regulations? Is it something physicians and ethical theorists do constructively together? Or is it a morally concentrated attack on high technology, with the prac titioners of scientific medicine and the medical ethicists in an adversarial role? Is it a conservative endeavor, exhibiting a Frankenstein syn drome in Medical Genetics ("this time, they have gone too far"), or a Clockwork Orange syndrome in Psychotherapy ("we have met hods to make you talk-walk-cry-kill")? Or does it suffer the afflic tion of overdependency on the informal fallacy of the Slippery Slope ("one step down this hill and we will never be able to stop") that remains an informal fallacy no matter how frequently it's used? Is it a restricted endeavor of analytic philosophy: what is the meaning of "disease," how is "justice" used in the allocation of medical resources, what constitutes "informed" or "consent?" Is it applied ethics, leading in clinical practice to some recommenda tion for therapeutic or preventive action? This incomplete list of questions indicates just how complex. (shrink)