Genetic counselling is an important aspect of prenatal care in many developed countries. This tendency has also begun to emerge in Br.

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)

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 diagnosis, (...) genetic disorders, Hungary, bioethics CiteULike Connotea Del.icio.us What's this? (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)

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.

As a mother of two sons with adrenoleukodystrophy the author of this paper writes about her experiences of genetic counselling following the diagnosis. She discusses the dilemmas, emotions and aftermath this knowledge has brought to her family and the roles she played. Personal concerns are raised about the values guiding genetic counselling which, she found, focused on the technical details without considering the ethical implications arising from the new knowledge or the emotional dilemmas of prenatal testing. Some (...) consequences of choice and the value of hope are discussed. She concludes by challenging genetic counsellors to deliver a service which not only provides technical information but is cognisant of the ethical considerations this information may foist upon a family. (shrink)

Clinical genetics encompasses a wider range of activities than discussion of reproductive risks and options. Hence, it is possible for a clinical geneticist to reduce suffering associated with genetic disease without aiming to reduce the birth incidence of such diseases. Simple cost-benefit analyses of genetic-screening programmes are unacceptable; more sophisticated analyses of this type have been devised but entail internal inconsistencies and do not seem to result in changed clinical practice. The secondary effects of screening programmes must be (...) assessed before they can be properly evaluated, including the inadvertent diagnosis of unsought conditions, and the wider social effects of the programmes on those with mental handicap. This has implications for the range of prenatal tests that should be made available. While autonomy must be fully respected, it cannot itself constitute a goal of clinical genetics. The evaluation of these services requires interdepartmental comparisons of workload, and quality judgements of clients and peers. (shrink)

Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non-invasive prenatal testing (NIPT) in first-trimester prenatal screening programmes: amongst others its procedural ease—it only requires a blood draw and reaches high levels of reliability—might hinder women’s understanding that they should make a personal, informed decision about screening. We offer arguments for a renewed recognition and use of informed (...) consent compared to informed choice, and for a focus on value-consistent choices and personalized informational preferences. We argue for a three-step counselling model in which three decision moments are distinguished and differently addressed: (1) professionals explore women’s values concerning whether and why they wish to know whether their baby has a genetic disorder; (2) women receive layered medical-technical information and are asked to make a decision about screening; (3) during post-test counselling, women are supported in decision-making about the continuation or termination of their pregnancy. This model might also be applicable in other fields of genetic (pre-test) counselling, where techniques for expanding genome analysis and burdensome test-outcomes challenge counselling of patients. (shrink)

Informed consent is a key condition for prenatal screening programmes to reach their aim of promoting reproductive autonomy. Reaching this aim is currently being challenged with the introduction of non‐invasive prenatal testing (NIPT) in first‐trimester prenatal screening programmes: amongst others its procedural ease—it only requires a blood draw and reaches high levels of reliability—might hinder women’s understanding that they should make a personal, informed decision about screening. We offer arguments for a renewed recognition and use of informed (...) consent compared to informed choice, and for a focus on value‐consistent choices and personalized informational preferences. We argue for a three‐step counselling model in which three decision moments are distinguished and differently addressed: (1) professionals explore women’s values concerning whether and why they wish to know whether their baby has a genetic disorder; (2) women receive layered medical‐technical information and are asked to make a decision about screening; (3) during post‐test counselling, women are supported in decision‐making about the continuation or termination of their pregnancy. This model might also be applicable in other fields of genetic (pre‐test) counselling, where techniques for expanding genome analysis and burdensome test‐outcomes challenge counselling of patients. (shrink)

The use of genomic testing in pregnancy is increasing, giving rise to questions over how the information that is generated should be offered and returned in clinical practice. While these tests provide important information for prenatal decision-making, they can also generate information of uncertain significance. This paper critically examines three models for approaching the disclosure of variants of uncertain significance (VUS), which can arise from forms of genomic testing such as prenatal chromosomal microarray analysis (CMA). Contrary to prevailing (...) arguments, we argue that respect for reproductive autonomy does not justify adopting a model on which an offer to disclose VUS is a routine part of genetic counselling. Instead, we contend that a commitment both to solidarity between healthcare providers and pregnant women and to the acceptance of a novel principle of caution under normative uncertainty means that we should instead adopt a model of VUS disclosure that imposes a strong presumption against offering to disclose VUS. The upshot of this is that it should be standard practice to only offer to disclose VUS when this is requested by the woman undergoing CMA. We defend our position against claims that arise from an alleged right to such information and that a presumption against an offer will lead to inequity. (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)

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)

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)

Background Prenatal genetic testing, in particular non-invasive prenatal testing (NIPT), as well as screening for risks associated with pregnancy, and counseling, play pivotal roles in reproductive healthcare, offering valuable information about the health of the fetus to expectant parents. This study aims to delve into the perspectives and experiences of women considering genetic testing and screening during pregnancy, focusing on their decision-making processes and the implications for informed consent. Methods A nationwide qualitative study was conducted (...) in Switzerland, involving in-depth interviews with women who were 1 to 2 years post-partum, covered by basic compulsory Swiss insurance, including women with a migration background. Thematic analysis was employed to identify key themes and patterns in the data. Results The findings underscore the significance of effective communication during prenatal counseling, suggesting that healthcare providers could not only convey technical information but also support women in their decision-making processes. Women need comprehensive information about genetic testing and its implications, as well as the reasons for screening during pregnancy, as there might be a need to bridge knowledge gaps and clarify misconceptions. Furthermore, the study highlights the multifaceted nature of decision-making, with women considering factors such as uncertainty, values, emotional responses, and societal support systems. The concept of acceptance emerged as a crucial theme, with some women expressing their readiness to love and accept their child, regardless of genetic anomalies or disabilities. Conclusion This study offers valuable insights into the perspectives and needs of women regarding prenatal genetic testing, screening, and counseling in Switzerland. It underscores the importance of enhancing the clinical interaction and informed consent process by providing comprehensive information, addressing misconceptions, and supporting women in decision-making about pregnancy management and the management of the child’s health, following prenatal genetic testing, including NIPT. These findings can inform healthcare providers and policymakers in improving the quality of prenatal counseling, ensuring informed consent, and supporting women in making well-informed and meaningful decisions about genetic testing, and on the use of screening during pregnancy. (shrink)

Reproductive counseling includes counseling of prospective parents by obstetricians, clinical geneticists, and genetic counselors regarding, for example, the use of assisted reproductive technologies, prenatal testing, and preimplantation genetic diagnosis. Two different views on wisdom and the goal of reproductive counseling are analyzed. According to the first view, the goal of reproductive counseling is to help prospective parents reach a wise decision. A specific course of action is recommended by the counselor in contrast to (...) other possible alternatives. According to the second view, the goal of reproductive counseling is not to help prospective parents reach a wise decision but to help them reach their own decision wisely. It is the prospective parents who should make the decision, and it is their value commitments that should be decisive. It is argued that the second approach is to be preferred to the first. It combines respect for autonomy with a recognition of the need for assistance in decision-making. Both the first and second views relate the goal of reproductive counseling to wisdom. A problem is, however, what wisdom more precisely means — there are many different views. A casuistic view of wisdom is investigated. This view roughly defines wisdom as practical prudence in dealing with particular cases. What characterizes a casuistic decision-making method is elaborated in more detail. Applied to the second view, a casuistic view of wisdom implies that the counselor should encourage prospective parents to take into consideration the nature of the particular problem at hand, the context of the problem, their own individual identities, their personal value commitments, and various alternative perspectives, values and arguments. (shrink)

The notion of being a burden to others is mostly discussed in the context of care‐intensive diseases or end‐of‐life decisions. But the notion is also crucial in decision‐making at the beginning of life, namely regarding prenatal testing. Ever more sophisticated testing methods, especially non‐invasive prenatal testing (NIPT), allow the detection of genetic traits in the unborn child that may cause disabilities. A positive result often influences the decision of the pregnant women towards a termination of the pregnancy. (...) Thus, critics claim that these testing methods send a negative message to people with disabilities. At the core of this is what we call the burden assumption. This assumption claims that children with disabilities are necessarily a burden to others, especially to their parents and other family members. In this paper, we discuss what being a burden to others means in this context and how such an attitude can be avoided without restraining reproductive autonomy. A closer examination shows that the burden assumption is mostly based on misinformation and a false model of disability. Empirical studies as well as narrative evidence from parents who raise a child with disabilities show that the burden assumption is wrong. Raising a child with disabilities does not necessarily mean a decrease in the quality of life. We show how the burden assumption can be challenged through an advanced genetic counselling that combines empirical evidence with narratives from a first‐person perspective. (shrink)

Society has historically not taken a benign view of genetic disease. The laws permitting sterilization of the mentally re tarded~ and those proscribing consanguineous marriages are but two examples. Indeed as far back as the 5th-10th centuries, B.C.E., consanguineous unions were outlawed (Leviticus XVIII, 6). Case law has traditionally tended toward the conservative. It is reactive rather than directive, exerting its influence only after an individual or group has sustained injury and brought suit. In contrast, state legislatures have not (...) been inhibited in enacting statutes. Many of their products can be characterized as hasty, unnecessary, ill-conceived, and based on the heart rather than the head. Moreover the lack of expert consultation sought has also been remarkable. One state legislature, for example, has advocated immunization for sickle cell anemia! Many others have enacted laws for the screening of inborn errors of metabolism, e.g., phenylketon uria, but have poorly defined the lines of responsibility to secure compliance. A spate of specific disease-related bills has emerged in the u.S. Congress, each seeking recognition and appropriations. Sickle cell anemia, hemophilia, Cooley's anemia and Tay-Sachs disease have been among the front-runners for support. Finally, in 1975, Congress has begun to examine an omnibus bill concerning all forms of genetic disease. The bill, termed the National Genetic Diseases Act is, however, still far from being enacted. (shrink)

Congenital deafness is one of the most common birth defects reported. Approximately 70% of congenital deafness is non-syndromic, and approximately 80% of non-syndromic hearing loss results from a genetic cause. Middleton et al.’s1998 study highlighted the negative attitudes of culturally Deaf individuals towards genetic testing for genes known to cause hearing loss. While studies concerning genetic testing for deafness genes reference Middleton’s study, to our knowledge a re-evaluation of the attitudes of Deaf individuals towards genetic testing (...) has not been conducted recently. The purpose of this study is to re-establish attitudes of Deaf individuals towards genetic testing of genes known to cause hearing loss. A computer-based questionnaire was distributed to members of the Deaf community. Responses of participants were recorded and analyzed. The primary investigator then attended Deaf community events and the 2015 Alabama Association of the Deaf Conference, and recruited individuals interested in participating in the study. The surveys were distributed to these individuals and their anonymous responses were analyzed. Our results show there are more positive attitudes within the Deaf community towards genetic counseling, genetic testing, and prenatal testing of genes known to cause hearing loss than were previously documented, although negative attitudes are still present. Additionally, our study shows there is a desire among members of the Deaf community to learn more about and potentially receive these services, despite the fact they are rarely offered by healthcare providers. (shrink)

Background: Noninvasive prenatal testing (NIPT) is a new prenatal screening technology that became commercially available in the United States in 2011. NIPT's increased accuracy and low false positive rate compared to previous screening methods enable many women to avoid invasive diagnostic testing and receive much desired reassurance. NIPT has received much attention for both its benefits and drawbacks. Methods: Observation of genetic counseling sessions and qualitative interviews with women offered NIPT at a large academic medical center (...) were conducted. Two ethnographic cases studies derived from the overall data set are used to illustrate the study findings. Results: Many fundamental ethical questions about prenatal screening, such as abortion or the value of disabled children, often do not emerge during clinical sessions, enabling most women to defer thinking about these issues until the future, when and if the need should arise. It may only be in the rare case when a woman receives a positive test result that she may be forced to confront ethical issues that she had up until then been able to avoid. Conclusions: Women want, and are grateful to have, access to NIPT, which offers much desired reassurance. This desire for reassurance may come at the expense of having contemplated the potential negative outcomes and limitations of testing. In the rare circumstance where women do not receive reassuring results, they may be unprepared and shocked by what NIPT can and cannot reveal. The routinization of NIPT as the latest and best available prenatal screening test does not necessarily create new ethical issues, but this study highlights ethical continuities following its arrival. However, the continued expansion of NIPT to include more conditions and women will increase the number of women who receive positive results, including false positives, and who may be shocked and unprepared as a result. (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)

This article describes a new prenatal genetic test that is painless, early, and increasingly available. State legislatures have reacted by prohibiting abortion for reason of fetal sex or of fetal diagnosis and managing genetic counseling. This article explores these legislative responses and considers how physicians and genetic counselors currently communicate post-testing options. The article then examines the challenges ahead for genetic counseling, particularly in light of the troubling grip of abortion politics on conversations (...) about prenatal diagnosis. (shrink)

In lieu of an abstract, here is a brief excerpt of the content:Genetic Testing and Genetic ScreeningPat Milmoe McCarrick (bio)In recent years there has been an enormous expansion in the knowledge that may be gleaned from the testing of an individual's genetic material to predict present or future disability or disease either for oneself or one's offspring. The Human Genome Project, which is currently mapping the entire human gene system, is identifying progressively more genetic sequencing information (...) (see Scope Note 17, The Human Genome Project). Information obtained from genetic testing raises ethical and legal questions about its uses by society. The ethical dilemmas were foreseen two decades ago by bioethicists who asked whether questionable applications could stop "legitimate pursuits" (IV, Gaylin 1972) and whether genetic disease might come to be viewed as "transmissible" in the sense of being contagious (IV, Veatch 1974).Not only has knowledge expanded, but the practice of genetic testing and screening has greatly increased as well. For example, in the case of testing for cystic fibrosis (CF), the U.S. Congress' Office of Technology Assessment (OTA) estimates that instances of screening jumped from 9310 tests in 1991 to 63,000 tests in 1992 (I, OTA [Cystic Fibrosis] 1992). In addition, the OTA estimates that within the next few years, the six million women who become pregnant each year routinely will be informed of available CF carrier tests (I, OTA [Cystic Fibrosis] 1992).Following the recent identification of a gene linked to breast cancer, Dr. Francis Sellers Collins, director of the National Center for Human Genome Research, said that "it is not inconceivable that every woman in America may want to be screened for this gene. The economic, ethical, and counseling issues will be very daunting." Dr. Collins opines that in the near future physical examinations for 18-year-olds will include DNA testing for diseases with genetic components and that physicians, in the interests of preventive medicine, will make risk-based recommendations for a healthy life-style (IV, Breo 1993). The U.S. President's Commission for the Study of Ethical Problems in Medicine and Biomedical and Behavioral Research predicted as early as 1983 that before the end of the century genetic screening and counseling would become major components of both public health and individual medical care (I, U.S. President's Commission 1983). [End Page 333]The OTA defines genetic testing as "the use of specific assays to determine the genetic status of individuals already suspected to be at high risk for a particular inherited condition. The terms genetic test, genetic assay, and genetic analysis are used interchangeably to mean the actual laboratory examination of samples." In contrast, genetic screening usually uses the same assays employed for genetic testing but is distinguished from genetic testing by its target population (I, OTA [Genetic Monitoring] 1990). The National Academy of Sciences (NAS) defines screening as the systematic search of populations for persons with latent, early, or asymptomatic disease (III, NAS 1975). Some of the literature annotated for this Scope Note appears to use the terms "testing" and "screening" interchangeably.Philip Boyle of the Hastings Center points out that the language used to describe genetic variation is important and asks what words should be used: "Defects, flaws, deleterious genes, disorders, or the more neutral conditions? Using words such as normal—and its corollary, abnormal—is likely to foster stigmatization and discrimination" (III, Genetic Grammar, Boyle 1992).Areas of focus in genetic testing include: prenatal diagnosis, newborn screening, carrier screening, forensic screening, and susceptibility screening.Prenatal diagnosis discerns whether a fetus is at risk for various identifiable genetic diseases or traits. Prenatal diagnosis is made using amniotic fluid, fetal cells, and fetal or maternal blood cells obtained during amniocentesis testing; alpha fetoprotein assays or chorionic villus sampling; or ultrasound tomography, which creates fetal images on a screen. Another method, known as fetoscopy, uses a camera on a needle inserted in the uterus to view the fetus. Since prenatal screening began in 1966 (I, U.S. President's Commission 1983), the number of metabolic defects and genetic disorders that can be diagnosed prenatally has expanded greatly. There is also discussion of requiring testing for parents who are participating in an in vitro fertilization program and are at genetic... (shrink)

Aspects of the current practice of prenatal diagnostics in Russia are surveyed. In the light of this, various ethical concerns are highlighted: (1) the requirement of parental informed consent to testing is not always sufficiently respected either in state regulation or in the practice of physicians; (2) not all Russian physicians are aware of international guidelines or standards of good practice in areas such as non-directive counselling, patient confidentiality with respect to genetic information and the patient’s right to (...) maintain control over his or her information; (3) abortion is viewed increasingly as an aspect of preventive medicine. (shrink)

Non-Invasive Prenatal Testing is a technology which provides information about fetal genetic characteristics very early in pregnancy by examining fetal DNA obtained from a sample of maternal blood. NIPT is a morally complex technology that has advanced quickly to market with a strong push from industry developers, leaving many areas of uncertainty still to be resolved, and creating a strong need for health policy that reflects women’s social and ethical values. We approach the need for ethical policy-making by (...) studying the use of NIPT and emerging policy in the province of Ontario, Canada. Using an adapted version of constructivist grounded theory, we conducted interviews with 38 women who have had personal experiences with NIPT. We used an iterative process of data collection and analysis and a staged coding strategy to conduct a descriptive analysis of ethics issues identified implicitly and explicitly by women who have been affected by this technology. The findings of this paper focus on current ethical issues for women seeking NIPT, including place in the prenatal pathway, health care provider counselling about the test, industry influence on the diffusion of NIPT, consequences of availability of test results. Other issues gain relevance in the context of future policy decisions regarding NIPT, including funding of NIPT and principles that may govern the expansion of the scope of NIPT. These findings are not an exhaustive list of all the potential ethical issues related to NIPT, but rather a representation of the issues which concern women who have personal experience with this test. Women who have had personal experience with NIPT have concerns and priorities which sometimes contrast dramatically with the theoretical ethics literature. These findings suggest the importance of engaging patients in ethical deliberation about morally complex technologies, and point to the need for more deliberative patient engagement work in this area. (shrink)

The ubiquitous nature of mitochondria, the dual genetic foundation of the respiratory chain in mitochondrial and nuclear genome, and the peculiar rules of mitochondrial genetics all contribute to the extraordinary heterogeneity of clinical disorders associated with defects of oxidative phosphorylation (mitochondrial encephalomyopathies). Here, we review recent findings about nuclear gene defects in isolated OXPHOS enzyme complex deficiency. This information should help in identifying patients with mitochondrial disease and defining a biochemical and molecular basis of the disorder found in each (...) patient. This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis, and is a prerequisite for the development of rational therapies, which are still, at present, woefully inadequate. BioEssays 23:518–525, 2001. © 2001 John Wiley & Sons, Inc. (shrink)

BackgroundThe clinical introduction of non-invasive prenatal testing for fetal aneuploidies is currently transforming the landscape of prenatal screening in many countries. Since it is noninvasive, safe and allows the early detection of abnormalities, NIPT expanded rapidly and the test is currently commercially available in most of the world. As NIPT is being introduced globally, its clinical implementation should consider various challenges, including the role of the surrounding social and cultural contexts. We conducted a qualitative study with healthcare professionals (...) in Lebanon and Quebec as case studies, to highlight the relevance of cultural contexts and to explore the concerns that should be taken into account for an ethical implementation of NIPT.MethodsWe conducted semi-structured interviews with 20 healthcare professionals (HCPs), 10 from each country, practicing in the field of prenatal screening and follow up diagnostic testing, including obstetricians and gynecologists, nurses, medical geneticists and, genetic counselors. We aimed to 1) explore HCPs’ perceptions and views regarding issues raised by NIPT and 2) to shed light on ways in which the introduction of the same technology (NIPT) in two different contexts (Lebanon and Quebec) raises common and different challenges that are influenced by the cultural norms and legal policies in place.ResultsWe identified challenges to the ethical implementation of NIPT. Some are common to both contexts, including financial/economic, social, and organizational/ educational challenges. Others are specific to each context. For example, challenges for Lebanon include abortion policy and financial profit, and in Quebec challenges include lobbying by Disability rights associations and geographical access to NIPT.ConclusionsOur findings highlight the need to consider specific issues related to various cultural contexts when developing frameworks that can guide an ethically sound implementation of NIPT. Further, they show that healthcare professional education and training remain paramount in order to provide NIPT counseling in a way that supports pregnant women and couples’ choice. (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)

Prenatal genetic testing is becoming available for an increasingly broad set of diseases, and it is only a matter of time before parents can choose to test for hundreds, if not thousands, of genetic conditions in their fetuses. Should access to certain kinds of fetal genetic information be limited, and if so, on what basis? We evaluate a range of considerations including reproductive autonomy, parental rights, disability rights, and the rights and interests of the fetus as (...) a potential future child. We conclude that parents should be able to access information that could be useful during pregnancy, but that testing for non-medical information should be limited. Next, we argue that the government lacks a compelling state interest in regulating prenatal genetic testing and propose that regulation should occur through medical professional organizations. Finally, we present a framework for determining what testing physicians should recommend, offer neutrally, or not offer at all. (shrink)

: This essay examines the possible systematic bias against the disabled in the structure and practice of genetic counseling. Finding that the profession's "nondirective" imperative remains problematic, the authors recommend that methodology developed by feminist standpoint epistemology be used to incorporate the perspective of disabled individuals in genetic counselors' education and practice, thereby reforming society's view of the disabled and preventing possible negative effects of genetic counseling on the self-concept and material circumstance of disabled individuals.

This essay examines the possible systematic bias against the disabled in the structure and practice of genetic counseling. Finding that the profession's “nondirective” imperative remains problematic, the authors recommend that methodology developed by feminist standpoint epistemology be used to incorporate the perspective of disabled individuals in genetic counselors' education and practice, thereby reforming society's view of the disabled and preventing possible negative effects of genetic counseling on the self-concept and material circumstance of disabled individuals.

Contributions to this study are drawn both from health professionals engaged in genetic counselling and from observers and critics with backgrounds in law, philosophy, biology, and the social sciences. This diversity will enable health professonals to examine their activities with a fresh eye, and will help the observer-critic to understand the ethical problems that arise in genetic counselling practice, rather than in imaginary encounters. Most examinations of the ethical issues raised by genetics are concerned in a broad sense (...) with the application of new technology to human reproduction. This volume focuses on genetic counselling and screening as such, providing valuable insights for the health professional, social scientist, philosopher, lawyer, and bioethicist. (shrink)

The emergence of the genetic counseling profession has allowed laypeople to understand and benefit from biological advances, and to make critical decisions about their application. The discipline of genetic counseling has been criticized from its very beginning, in particular because of its early association with the eugenics movement. This paper presents a critical and reflective overview of how genetic counseling is implicitly embedded in the history of eugenics but also counteracts past eugenic practices and (...) ideas. After World War II, attempts were made to distance genetic counseling from eugenics. The first definition of genetic counseling did not position this field as a medical encounter but "as a kind of genetic social work aimed primarily to provide people with an understanding of their family's genetics problems." This approach was a reaction to the genetic and social evolutionary ideas that informed eugenic theories during the first half of the 20th century. Professionals engaged in genetic counseling during the 1940s and1950s rejected eugenic practices, but there was still support for eugenics’ goals of improving heredity and eliminating disease. From the 1960s, genetic counseling underwent professionalization alongside feminization and a definition of core values. Among these values were nondirectiveness counseling and the autonomy of the counselee. The dark shadow of Nazi ideology and other eugenic practices, attempts to employ the historical responsibility of geneticists, and the dynamic medical, social, political, and educational changes of the 1960s and 1970s helped to frame approaches and delineate the goals and limits of the new profession of “genetic counseling.”. (shrink)

The ArgumentA survey of 2901 genetics professionals in 36 nations suggests that eugenic thought underlies their perceptions of the goals of genetics and that directiveness in counseling after prenatal diagnosis leads to individual decisions based on pessimistically biaed information, especially in developing nations of Asia and Eastern Europe. The “non-directive counseling” found in English-speaking nations is an aberration from the rest of the world. Most geneticists, except in China, rejected government involvement in premarital testing or sterilization, but (...) most also held a pessimistic view of persons with genetic disabilities. Individual, but not state-coerced, eugenics survives in much modern genetic practice. (shrink)

This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent (...) genetic counselors as neutral parties. Ultimately, this article argues that this ambiguity is harmful to the production of a professional habitus that is consistent with espoused professional values concerning respect for persons with disabilities and the promotion of psychosocial counseling. (shrink)

The ArgumentThe claim that x is a form of eugenics is frequently used as if it were a knockdown argument against x. Genetic counseling has tried to distance itself from eugenics by presenting itself as facilitating choice. Its success in this attempt has been challenged. The argument however is not a knockdown one and there is scope for some mediation between autonomy and public health goals in genetics.

Contributions to this study are drawn both from health professionals engaged in genetic counselling and from observers and critics with backgrounds in law, philosophy, biology, and the social sciences. This diversity will enable health professonals to examine their activities with a fresh eye, and will help the observer-critic to understand the ethical problems that arise in genetic counselling practice, rather than in imaginary encounters. Most examinations of the ethical issues raised by genetics are concerned in a broad sense (...) with the application of new technology to human reproduction. This volume focuses on genetic counselling and screening as such, providing valuable insights for the health professional, social scientist, philosopher, lawyer, and bioethicist. (shrink)

Although the philosophical literature on the ethics of human prenatal genetic alteration purports to inform us about how to act, it rarely explicitly recognizes the perspective of those who will be making the PGA decision in practice. Here I approach the ethics of PGA from a distinctly virtue-based perspective, taking seriously what it means to be a good parent making this decision for one’s child. From this perspective, I generate a sound verdict on the moral standing of human (...) PGA : given the current state of the art, good parents have compelling reason not to consent to PGA for their child, especially as part of the first wave of PGA research participants and especially for non-medically oriented purposes. This is because doing otherwise is inconsistent with a plausible and defensible understanding of virtuous parenting and parental virtues, founded on a genuine concern for promoting the overall flourishing of the eventual child. In essence, given the current and foreseeable state of the art, parents who allow prenatal genetic alteration of their children are less-than-virtuous parents to those children, even in cases where they have a right to do so and even if PGA turns out to be beneficial to the eventual child. (shrink)

Jürgen Habermas has argued against prenatal genetic interventions used to influence traits on the grounds that only biogenetic contingency in the conception of children preserves the conditions that make the presumption of moral equality possible. This argument fails for a number of reasons. The contingency that Habermas points to as the condition of moral equality is an artifact of evolutionary contingency and not inviolable in itself. Moreover, as a precedent for genetic interventions, parents and society already affect (...) children's traits, which is to say there is moral precedent for influencing the traits of descendants. A veil-of-ignorance methodology can also be used to justify prenatal interventions through its method of advance consent and its preservation of the contingency of human identities in a moral sense. In any case, the selection of children's traits does not undermine the prospects of authoring a life since their future remains just as contingent morally as if no trait had been selected. Ironically, the prospect of preserving human beings as they are – to counteract genetic drift – might even require interventions to preserve the ability to author a life in a moral sense. In light of these analyses, Habermas' concerns about prenatal genetic interventions cannot succeed as objections to their practice as a matter of principle; the merits of these interventions must be evaluated individually. (shrink)

In their analysis of how much fetal genetic information prospective parents should be able to access, Bayefsky and Berkman determine that parents should only be able to access information th...