L’inconduite en recherche engendrée par l’intérêt personnel: comment gérer une telle situation?

Étude de cas / Case studyCette étude de cas fictive illustre la manière dont certains projets de recherche peuvent avoir leurs résultats utilisés dans le but de servir des intérêts personnels, aboutissant ainsi à une inconduite scientifique en recherche.This fictional case study illustrates how the results of certain research projects can be used in order to serve personal interests, leading to scientific research misconduct

How I Got Pregnant: Should Having a Child Justify a Partner’s ‘Deception’?

Réponse à - Travail créatif / Response to - Creative workCe commentaire est associé au travail créatif “How I Got Pregnant” de James Dwyer, une histoire qui soulève des questions éthiques concernant la demande d’une femme de bénéficier d’une assistance médicale pour tomber enceinte, sans avoir l’intention de le dévoiler à son mari. Dans ce commentaire, je défends l’idée que l’attitude de cette femme trompe la confiance de son conjoint et j’explique en quoi ses justifications, pour faire valoir sa demande de concevoir un enfant à l’insu de son mari, sont faibles.This is a commentary related to the creative work by James Dwyer entitled “How I Got Pregnant”, a story that raises ethical issues about a woman’s request for medical assistance to get pregnant without the intention to disclose this to her husband. In this commentary, I argue that this woman’s attitude breaks trust with her husband, and show why the justifications she offered in order to argue for her request to conceive a child without her husband’s knowledge are flawed

L'autonomie reproductive des femmes et leur prise de décision vis-à-vis du Test Prénatal Non-Invasif : étude comparative Liban-Québec

Basé sur la détection de l'ADN foetal dans le sang maternel, le Test Prénatal Non-Invasif (TPNI) a transformé le paysage des soins prénataux en offrant des avantages cliniques par rapport aux tests de dépistage prénataux déjà existants. Reposant sur une simple prise de sang, le TPNI est non-invasif et ne comporte donc aucun risque de fausse couche. Il détecte la présence d’aneuploïdies foetales comme la trisomie 21, 18 et 13 avec une spécificité et une sensibilité élevées dès la dixième semaine de grossesse. Le TPNI a connu une croissance rapide et il est actuellement commercialisé dans une grande partie du monde. Avec l’expansion du TPNI à l'échelle mondiale, une implantation culturellement adaptée et éthiquement efficace du test nécessite des politiques de santé qui tiennent compte du contexte culturel et social dans lequel s’effectue les prises de décisions relatives aux tests prénataux. Dans un contexte occidental, le principal argument éthique employé pour l'accès aux tests prénataux et leur financement public est la promotion de l'autonomie reproductive, en permettant aux femmes enceintes et aux couples d'avoir l'information relative à leur foetus. À son tour, cette information leur permet de choisir un plan d'action concernant la gestion de la grossesse : continuer la grossesse et préparer pour la naissance du futur enfant ou interrompre la grossesse. Le but de cette thèse n’est pas d’étudier le concept de l’autonomie reproductive contextuelle dans un cadre non-occidental, mais plutôt de comparer comment ce concept est mis en oeuvre dans deux contextes culturels différents et quels sont les facteurs qui entrent en jeu lorsque les femmes enceintes ou les couples acceptent ou refusent le TPNI. Dans cette optique, nous avons choisi le Québec, Canada et Beyrouth, Liban comme des études de cas afin d’explorer quelles considérations éthiques liées à l'autonomie reproductive devraient guider l’implantation du test dans différents contextes culturels. Pour répondre à cette interrogation nous avons mené une étude qualitative basée sur des entretiens semi-dirigées auprès des femmes enceintes et de leurs partenaires pour 1) explorer leurs perceptions, valeurs et préférences au sujet du TPNI et 2) examiner comment ces valeurs, perceptions et préférences influencent l’autonomie reproductive et la prise de décision vis-à-vis du TPNI dans ces deux contextes culturels, le Liban et le Québec. L'analyse des données collectées a montré que tous les participants tant au Québec qu’au Liban considèrent le TPNI comme une avancée positive dans le domaine des tests prénataux. Cependant, lors de la comparaison des processus décisionnels autour du TPNI, nous avons identifié plusieurs différences significatives et certaines similitudes importantes relatives aux divers facteurs jugés comme influençant la prise de décision des couples et des femmes enceintes vis-à-vis du test. Nous pouvons notamment citer : l’existence de la technologie elle-même, les croyances personnelles ou les opinions des couples et des femmes enceintes sur l'avortement et la gestion de la grossesse, la relation avec le partenaire et le professionnel de la santé et les ressources financières, y compris le coût du TPNI et sa couverture par le système de santé ou par les compagnies d'assurance. La prise de décision autour du TPNI est un processus complexe faisant appel à une exploration des différents éléments qui entrent en jeu et qui façonnent cette décision. Par conséquent, une compréhension du contexte socioculturel et des divers facteurs qui jouent un rôle dans cette prise de décision est cruciale pour préserver l'autonomie reproductive contextuelle des femmes et des couples et pour guider les décisions cliniques et politiques relatives à l’implantation du TPNI en clinique.Non Invasive Prenatal Testing (NIPT) based on the detection of cell free fetal DNA in maternal blood has transformed the landscape of prenatal care by offering clinical benefits over existing prenatal screening tests. Requiring a simple blood test, NIPT is non-invasive and thus carries no risk of pregnancy loss and detects fetal aneuploidies such as trisomy 21, 18 and 13 with high specificity and sensitivity as early as the 10th week of gestation. NIPT has expanded rapidly and is currently commercially available in most of the world. As NIPT spreads globally, culturally sensitive and ethically sound implementation will require policies that take into consideration the social and cultural context of prenatal testing decisions. In a western context, the main ethical argument for providing access and public funding of prenatal tests is the promotion of reproductive autonomy, by enabling pregnant women and couples to access information about the fetus in order to choose a certain course of action for pregnancy management: either to continue the pregnancy and to prepare for the birth of the future child or to terminate the pregnancy. In this thesis, we aim to explore how the framework of reproductive autonomy is operationalised in a non-Western cultural context and what are the factors that come into play when pregnant women and couples accept or decline NIPT testing. Therefore, we used Quebec, Canada and Beirut, Lebanon as case studies to explore what ethical considerations related to reproductive autonomy should guide the implementation of the test in various cultural contexts. To answer this question, we conducted a qualitative study based on semi-structured interviews to 1) explore the perceptions, values and preferences of pregnant women and their partners about NIPT and 2) to examine how these perceptions, values and preferences influence reproductive autonomy and NIPT decision-making in these two cultural settings, Lebanon and Quebec. The data analysis showed that all participants in Quebec and Lebanon considered NIPT to be a positive advance for prenatal testing technology. However, when comparing NIPT decision-making processes we identified several significant differences and some important similarities with respect to the different factors deemed to influence couples’ and pregnant women’s NIPT decision-making. Among others, the presence of the technology itself, the personal beliefs or views of couples and pregnant women on abortion and pregnancy management, the relationship with the partner and the healthcare professional and the financial resources, including NIPT cost and its coverage by the healthcare system or insurance companies. Decision-making surrounding NIPT is a complex process requiring a consideration of the different elements that come into play to shape such decision. Therefore, an understanding of the socio-cultural context and the diverse factors that play a role in the decision-making process is crucial to preserve women’s and couples’ contextual reproductive autonomy and to guide any clinical or policy implementation decisions

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

ArticleLe test prénatal non-invasif (TPNI) reposant sur l’utilisation de l’ADN fœtal libre (cffDNA) dans le sang maternel a été introduit dans la pratique clinique dans de nombreux pays, incluant le Canada. Ce test peut être effectué tôt durant la grossesse pour détecter le syndrome de Down ainsi que d’autres conditions. Bien que le TPNI promette de nombreux avantages, il comporte aussi des enjeux éthiques, légaux et sociaux (ELS). Cet article recense les préoccupations qui se trouvent actuellement dans la littérature sur les enjeux ELS du TPNI. Nous faisons quatre observations. Tout d’abord, le TPNI semble exacerber certaines des préoccupations existantes et soulevées par d’autres tests prénataux (l’amniocentèse et le dépistage du sérum maternel), telles que les menaces à l’autonomie reproductive des femmes et la discrimination et la stigmatisation potentielles des personnes handicapées et de leurs familles. Cela peut être attribué à la probable mise en œuvre en grande échelle et par la routinisation à venir du TPNI. Deuxièmement, la distinction entre le TPNI comme un test de dépistage (tel qu’il est actuellement recommandé) et comme un test de diagnostic (potentiellement dans le futur), présente certaines implications sur la discussion des enjeux ELS. Troisièmement, nous avons observé un changement progressif dans la littérature. Celle-ci était à l’origine composée d’analyses essentiellement conceptuelles, mais recense maintenant un nombre croissant d’études empiriques. Cela démontre la contribution des approches de la bioéthique empirique alors que la technologie est en cours d’implantation au sein de la pratique clinique. Enfin, nous avons constaté un intérêt croissant pour les questions de justice et d’équité en matière d’accès au TPNI dans la mesure où le test devient implanté à une échelle plus large.Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI). This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening) such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended) and as a diagnostic test (potentially in the future), has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented

The First Baby Born After Polygenic Embryo Screening

ABSTRACT This article examines the bioethical discourse on polygenic embryo screening (PES) in reproductive medicine in blogs and news stories published during 2021 in response to the first baby’s birth using polygenic risk scores (PRS) derived from genome-wide association studies. We further contextualize the findings by synthesizing the emerging peer-reviewed bioethics literature on the issue, which has emphasized considerations regarding the child-parent future relationship, equity of access, and the absence of professional guidelines. Our media content analysis has established that expert opinion was prominently featured in news coverage, with bioethicists and other academics contributing 38 percent of articles and providing extensive commentary on ethical, social, and policy implications in the articles written by journalists. The overall perspective towards the use of PES was primarily negative (59 percent of the articles), without significant differences in negativity and positivity between experts and science reporters. This indicates a shift from the predominantly neutral attitudes towards the technology in media discourse prior to its deployment in clinical settings. There is heightened awareness that offering these tests to prospective parents is unethical and can create unrealistic expectations, with the two most prominent arguments being uncertainty about the prediction accuracy of polygenic risk scores in this context (72 percent of the articles) and the potential of PES to lead to a eugenic future of human reproduction that normalizes the discrimination of people based on their genetics (59 percent of the articles). INTRODUCTION The possibility of using genetic technologies to engineer the perfect baby has long haunted the public imagination. While some techno-utopians have openly advocated for human genetic enhancement, many critics have warned that advances in DNA technology come with myriads of ethical dilemmas and potentially dangerous social consequences. Literary and cinematic works have offered dystopian visions of our genetic futures—from Aldous Huxley’s powerful socio-political fantasy in his book Brave New World (1932) to cult classics of sci-fi cinema, such as Blade Runner (1982) and Gattaca (1997), there has been no shortage of ominous predictions that genetic engineering would lead to a new form of eugenics, which would ultimately create new social hierarchies grounded on genetic discrimination. Moreover, concerns about the use of genetic and genomic technologies for social control have been entangled with deep philosophical questions about personal autonomy, the right of the child to an open future, and the morality of changing, improving, or redesigning human nature.1 The perennial debate on human enhancement was recently reignited with a new controversy over the use of pre-implantation screening of embryos using polygenic risk scores.2 While the profiling of IVF embryos to detect hereditary, monogenetic diseases has been widely accepted, some companies are now pushing the envelope with unrealistic promises of tests that can predict genetic possibilities for desirable traits such as a child’s intelligence, athletic ability, and physical appearance. One event that prompted a public outcry in late 2021 was news about the birth of the first baby from an embryo selected through polygenic testing, a girl named Aurea.3 Although the embryo screening in Aurea’s case was used to decrease the likelihood for certain health conditions, many commentators believed that it signaled a real possibility of embryo selection for non-medical reasons becoming a commercial procedure in the foreseeable future, especially in the largely unregulated US fertility market.4 In the past, there have been discrepancies in how ethical and policy issues arising from advances in reproductive medicine have been viewed by experts (e.g., bioethicists, philosophers, legal scholars) and presented in the news. Like other advances in medical genetics, gene editing and screening technologies have been frequently characterized by exaggeration, sensationalism, and hype around clinical possibilities.5 Moreover, news media have often amplified the anticipated health benefits of genetic testing while overlooking uncertainty associated with its clinical validity and emerging ethical concerns, as shown in a recent study of the media portrayal of non-invasive prenatal testing (NIPT).6 The issue of polygenic embryo screening (PES) initially gained traction in the media in 2017 when the New Jersey biotech startup Genomic Prediction made headlines with claims that its testing technology could identify and avoid implanting embryos with very low IQs.7 The company also claimed that it had the capability to identify embryos with high IQs, although it committed not to offer that procedure for ethical reasons.8 The media coverage of polygenic risk scoring of human embryos between 2017 and 2019 was previously analyzed in a study published in BMC Medical Ethics in September 2021.9 This media content analysis has established that while most news articles were neutral towards the technology, one of the most significant critiques raised by science reporters was the absence of solid scientific evidence for the technology’s predictive accuracy and its practical value in IVF settings. It has also identified five major ethical concerns articulated by science reporters that have also been addressed in the academic discourse and within broader policy debates on reproductive technologies: a slippery slope towards designer babies, well-being of the child and parents, impact on society, deliberate choice, and societal readiness. In this article, we examine the discourse on PES in bioethics blogs, opinion articles, and news stories published in 2021, with a specific focus on reactions to the birth of the first polygenic risk score baby. We compare the perspectives of experts and science reporters to establish their attitudes towards PES, the main ethical themes in press coverage, and the key issues highlighted for a future policy debate. We also juxtapose our findings to the previous study of media coverage to establish if the case of baby Aurea has raised any new issues and pressing ethical concerns. I. Polygenic Embryo Screening in Reproductive Medicine While complex diseases and human traits result from a combination of genetic, lifestyle, and environmental factors, genomic medicine is quickly gaining momentum, and demands for genetic tests in clinical practice have significantly increased. Scans and analyses of genomes from various populations, a research area known as genome-wide association studies, have enabled scientists and researchers to identify genetic differences or variants associated with a particular trait or medical condition. These variants can be combined into a polygenic risk score that predicts an individual’s traits or increased risk for a certain disease. For instance, PES have been used to predict a range of diverse common conditions, from diabetes and cancer to attention deficit issues10 and, in some cases, well-being in general.11 This testing modality relies on the probabilistic susceptibility of individuals to certain diseases to offer personalized medical treatments and inform therapeutic interventions. Polygenic embryo screening uses polygenic risk scores to assess an embryo’s statistical risks of developing diseases (e.g., cardiovascular diseases) and potentially traits (e.g., intelligence, athletic ability, among others) and is performed in an IVF setting. It is currently marketed by several US companies such as MyOme, OrchidHealth, and Genomic Prediction to prospective parents as a method to screen pre-implantation embryos for health and non-health related conditions and is accessible to those who can afford to pay for it. As stated in a recent report on companies bringing PES into reproductive medicine, Genomic Prediction has already made their test for polygenic disorders, LifeView, available to couples. In contrast, Orchid Health has only recently invited couples to an early-access program for their testing technology, and MyOme is still in the process of launching its own test.12 In September 2021, Bloomberg first reported the birth of baby Aurea using screening conducted by Genomic Prediction. She was born after her parents used IVF and subsequently PES to select from 33 candidate pre-implantation embryos in 2020.13 Aurea’s embryo was deemed to have the best genetic odds of avoiding conditions such as breast cancer, diabetes, heart disease, and schizophrenia in adulthood. It is worth noting that Genomic Prediction made the announcement almost one year following Aurea’s birth, thus delaying the media’s reaction to this development and the ensuing bioethical and policy debates. II. Ethical, Social, and Policy Implications Some important ethical, social, and regulatory considerations regarding the development and clinical use of PES have been raised within the academic community. The bioethics literature on the issue, however, appears rather thin, which is not surprising given that prior to 2021, the possibility of using this screening method in clinical practice was largely hypothetical. Other genomic technologies that have enabled polygenic embryo selection, such as whole-genome sequencing and pre-implantation genetic diagnosis, have received more attention from bioethicists, legal scholars, and Ethical, Legal, and Social Implications (ELSI) researchers. Our analysis of the emerging literature has shown that some proponents of PES advocate its current use and go as far as to suggest a permissive regulatory environment for the purpose of outpacing the ethical concerns and potential restrictions once the technology becomes widely available. This approach suggests that embryo selection should be allowed for or against any trait associated with higher odds for better health and well-being in general, often without further discussion of what accounts for wellbeing.14 Scholars applying the principle of procreative beneficence to defend the use of PES have also argued for regulation that addresses issues of justice and equality and expands access to the procedure for those who are currently unable to afford it. By contrast, opponents have argued that the clinical utility of this embryo selection method is yet to be proven, and its current use may create unrealistic expectations in parents, making it an unethical practice to offer the procedure as part of IVF treatments.15 They state that predictive models from PRS have been developed with data from genomes of adult populations. Therefore, extrapolating results for embryo screening, along with the absence of a research protocol to validate its diagnostic effectiveness, is dangerous and misleading.16 Another layer of complexity is added because PRS already faces many translational hurdles that would undermine its predictive value assessment for certain traits or diseases. Scientists have noted that PRS take into consideration the genetic component of a particular trait putting aside the effects of other non-genetic factors, such as lifestyle and environment, which might interfere and influence the calculation of these scores.17 Discussions on the ethics and societal implications of PES in the bioethics literature can be grouped into three distinct categories: 1) relational issues between parents and the future child (e.g., selection as identity-determining, concerns about the instrumentalization of children and the child’s right to an open future); 2) concerns about social justice and equality (e.g., fears about a new eugenics that establishes new social hierarchy, limited access to the technology due to its cost); and 3) implementation and regulatory concerns (e.g., lack of professional guidelines and advertising of PES by private companies). An important ethical implication of PES relates to the well-being of the future child and the way that selecting children based on their genetic make-up might negatively affect the parent-child relationship. This is in line with previously raised ethical concerns in the literature around cloning and pre-implantation genetic diagnosis that by choosing a child’s genetic predisposition, we are limiting to and, in some cases, denying their right to an open future. For instance, the future child’s options would be restricted if parents chose a genetic predisposition to musicality that might interfere with the child’s ability to make certain life choices.18 On a societal level, there are concerns PES may alter social perceptions of what is “normal” and “healthy,” resulting in discrimination and stigmatization of certain conditions.19 Related to this are fears about encouraging eugenic attitudes that can exacerbate discrimination against people with disabilities. Furthermore, one of the main ethical concerns raised is that the growing use of PES might exacerbate societal pressure to use this technology, influencing parents’ decisions to select the embryo with the “best” genetics giving rise to a generation of “designer babies.” 20 Finally, direct-to-consumer marketing and clinical introduction of the technology prior to the publication of professional guidelines and in the absence of scientific validity for its use, as well as without appropriate regulatory oversight, is seen as a premature step that might erode public trust.21 III. News Stories and Expert Commentary on Polygenic Embryo Screening in 2021 We conducted searches on google news using keywords such as “polygenic embryo screening,” “polygenic risk scores,” “baby Aurea,” and “embryo selection” and selected blogs and articles from major news sources (e.g., Washington Post, New York Times, Wall Street Journal, LA Times, Guardian, The Times, etc.). An additional effort was made to collect all relevant articles from prominent bioethics blogs such as the Hastings Center Bioethics Forum, Impact Ethics, Bioethics.net, Biopolitical Times (Center for Genetics and Society), among others. The time period for the study was one year, from January 1 to December 31, 2021. While most coverage occurred after the Bloomberg report on the birth of the first baby using PES, there were a number of news stories and blogs in response to a special report on embryo selection based on polygenic risk scores published in the New England Journal of Medicine on July 1, 2020.22 This report, which has received significant attention in the press, warns that companies that offer genetic services can create unrealistic expectations in health providers and prospective parents through their marketing practices. It has further emphasized the scientific uncertainty around the predictive results of PRS in the context of embryo selection. In general, our search has established that the news media coverage on PES over the past year has revolved around these two events – the NEJM Report and the announcement about the first baby born after PES. In total, we collected 29 publications, of which 12 were blog posts and 17 publications under the general category of “news,” including ten news articles, three opinion pieces/perspective articles, two press releases, and one radio broadcast transcript (see Supplementary Material). IV. Methods for content analysis We utilized an inductive-deductive process to develop coding categories for a systematic content analysis of the blogs and new articles. The first author undertook a close reading of the entire dataset to derive inductively recurrent themes and ethical arguments in the media representations of PES. Based on this preliminary analysis, both authors agreed on the categories for textual analysis. The coding book was further refined by using a deductive approach that incorporates themes that have been previously articulated in the scholarly literature on the issue, particularly questions about the perceived attributes of the test, ethical concerns, and emerging policy considerations. The following categories were used to analyze key issues and attitudes towards PES expressed by experts and science journalists: a. Claims that PES is unethical because it violates the future child’s autonomy. b. Concerns about PES as a step towards eugenics and/or genetic discrimination. c. Defenses of PES with arguments that parents have a duty to give the child the healthiest possible start in life (and reduce public health burden). d. Claims that the science behind PRS-based diagnostics is uncertain, and it will take some time to prove its clinical validity. e. Concerns about the equality of access to PES. f. Arguments that PES can exacerbate ethnic and racial inequality (e.g., that most polygenic scores are created using DNA samples from individuals of European ancestries and predictions may not be accurate in other populations). g. Arguments that PES provides health benefits and can help overcome genetic and health inequalities. h. Concerns about the negative impact that PES may have on the child-parent relationship. i. Arguments about the need for better regulatory oversight of PES. j. Suggestions that there is an urgent need for deliberation and debate on the societal and ethical implications of PES. k. Concerns that patients and clinicians may get the impression that the procedure is more effective and less risky than it is. l. Assessment of whether the article’s perspective towards the use of PES is positive, negative, or neutral. We used yes/no questions to detect the frequencies of mentions in each category, except on the last question, which required a more nuanced, qualitative assessment of the overall tone of the articles. We coded articles as “positive” when the authors viewed the technology favorably and emphasized its potential health benefits over its negative implications. Articles that did not condone the current use of PES and expressed strong concerns about the predictive accuracy of this testing method, its readiness for clinical use, and highlighted its controversial ethical and social implications were coded as “negative.” Finally, articles that simply presented information about the topic and quoted experts on the advantages and disadvantages of using PRS for embryo selection without taking a side or expressing value judgments were coded as “neutral.” Acknowledging the complex polysemic nature of media texts, we took into consideration that support or disapproval of PES may be implicit and expressed by giving credence to some experts’ opinions over others. Therefore, we coded articles that mostly cited expert opinion favorable to PES, or alternatively, presented such views as more credible, as “positive”, while we coded articles that emphasized critical perspectives as “negative.” V. Media Discourse and Expert Opinion On PES We found out that perspectives and opinions by experts were prominently featured in both news (17 articles) and blogs (12 articles). The blog posts in our dataset were written by university professors in bioethics (four articles), academics from other disciplines such as medicine, political science, psychology, human genetics, and neurobiology (four articles), and science journalists and editors (four articles). Furthermore, three of the news articles in influential newspapers and magazines such as The Wall Street Journal, The Washington Post, and The Scientific American were opinion articles or commentaries contributed by academics (e.g., a psychology professor, specializing in personality, individual differences, and behavior genetics, a sociology professor, and a director of research in a graduate program in human genetics). The remaining 14 news articles in our dataset were written by science reporters, editors, or other staff writers. Altogether, experts contributed 38 percent of the media coverage (11 articles) on the issue of PES and its wider societal implications. Experts’ comments were also heavily featured in the 18 articles written by science reporters and other media professionals, which accounted for 68 percent of the dataset. Of these articles, 17 extensively cited experts with academic and research backgrounds (professors and research scientists), seven articles quoted industry representatives (e.g., CEOs and spokespersons of Genomic Prediction and Orchid, other commercial developers), and four articles included opinions by parents seeking PES, particularly Aurea’s father, North Carolina neurologist Rafal Smigrodzki, who argued that a parent’s duty is to prevent disease in their child.23 The overall perspective towards the use of PES was mostly negative – 59 percent (17 articles) expressed negative attitudes, while 24 percent (seven articles) were positive and 17% (five articles) were neutral in tone and did not advance arguments in favor or against the technology and its adoption. However, we did not establish significant differences in negativity and positivity between experts and science reporters. For instance, 49 percent of the articles with negative attitudes were written by experts, while 53 percent were authored by science reports. Similarly, the articles by experts with positive perspectives on PES accounted for 13 percent of the dataset, while science reporters contributed 11 percent of the positive articles. VI. Major Themes and Issues The most discussed issue in media coverage was the prediction accuracy of polygenic risk scores and the uncertainties regarding the utility of these tests in embryo screening. Our analysis has established that 72 percent of the articles (21 out of 29) argued that the science behind PES-based diagnostics is uncertain, and it will take some time to prove its clinical validity. The second most frequently mentioned issue was the potential of PES to lead to a eugenic future of human reproduction. More than half of

Une santé à toute épreuve ? Éthique de l’utilisation de l’intelligence artificielle dans le secteur de la santé

L’intelligence artificielle (IA) peut être définie comme « la science et l’ingénierie de la création de machines intelligentes » (McCarthy, 1955). L’acronyme est présent sur toutes les lèvres depuis quelque temps déjà. Cette omniprésence de l’IA n’est pas qu’un effet de langage, les systèmes d’IA intègrent littéralement un nombre incalculable d’activités humaines. Ils sont maintenant présents dans des sphères aussi variées que l’industrie, les arts et l’éducation, transformant du même coup n..

Non-invasive Prenatal Testing for Fetal Whole Genome Sequencing: An Interpretive Critical Review of the Ethical, Legal, Social, and Policy Implications

Introduction: Non-invasive prenatal testing (NIPT) allows for genetic testing of a fetus through the analysis of cell-free DNA from the mother’s plasma. NIPT is easy and safe for the fetus, since it only requires a blood draw from the mother and therefore holds no risk of miscarriage. It is considered superior to other prenatal screening tests and can also be performed earlier in the pregnancy. NIPT has the future potential for fetal whole genome sequencing (FWGS) for an expanded range of conditions, such as late onset genetic conditions and carrier status. Objective: To review ethical, legal, social, and policy implications of the potential use of non-invasive prenatal testing for FWGS. Methods: This study is a critical interpretive literature review exploring and reporting ethical, legal, social, and policy implications of potential future implementation of NIPT for FWGS, which will be referred to as non-invasive prenatal whole genome sequencing (NIPW). Database and reference list searching was conducted between 2010 and 2019 for terms related to “non-invasive prenatal testing” AND “fetal whole genome sequencing” and derivatives. Results: Following screening, 32 articles were included. Data were grouped into four thematic categories: 1) ethical implications for the future child concerning autonomy and harms, as well as for prospective parents involving autonomy, informed consent concerns, and harms; 2) legal implications including privacy concerns; 3) social implications including changes in family dynamics, altered societal perceptions and disability concerns, justice and equity in accessing the test, and social pressure to use the test; and 4) policy implications including cost and funding concerns, limiting the scope of testing, as well as counseling, education, and support. Discussion: The discussion of results highlights several ethical, legal, social, and policy implications of NIPT use for FWGS. These findings have implications on NIPT implementation for FWGS including how the autonomy of the future child should be balanced with the autonomy of prospective parents, the scope of conditions that should or should not be tested for – and covered or not covered by the healthcare system – and the regulation of FWGS introduction, among others. Further research needs to be performed to address these concerns and hence guide the discussion about the clinical implementation of FWGS through NIPT.Introduction: Les tests prénataux non invasifs (TPNI) permettent d’effectuer des tests génétiques sur un fœtus par l’analyse de l’ADN sans cellules provenant du plasma de la mère. Le TPNI est facile et sûr pour le fœtus, puisqu’il ne nécessite qu’une prise de sang de la mère et ne présente donc aucun risque de fausse couche. Il est considéré comme supérieur aux autres tests de dépistage prénatal et peut également être réalisé plus tôt dans la grossesse. Le TPNI a un potentiel futur pour le séquençage du génome entier du fœtus (SGEF) pour une gamme élargie de conditions, telles que les conditions génétiques à déclenchement tardif et le statut de porteur. Objectif: Examiner les implications éthiques, juridiques, sociales et politiques de l’utilisation potentielle des tests prénataux non invasifs pour le SGEF. Méthodes: Cette étude est une revue critique et interprétative de la littérature explorant et rapportant les implications éthiques, légales, sociales et politiques de la mise en œuvre potentielle du TPNI pour le séquençage du génome entier du fœtus, qui sera appelé séquençage prénatal non invasif (SPNI). Une recherche dans les bases de données et les listes de références a été effectuée entre 2010 et 2019 pour les termes liés à « test prénatal non invasif » ET « séquençage du génome entier fœtal » et dérivés. Résultats: Après la sélection, 32 articles ont été inclus. Les données ont été regroupées en quatre catégories thématiques : 1) implications éthiques pour le futur enfant concernant l’autonomie et les préjudices, ainsi que pour les futurs parents concernant l’autonomie, les préoccupations relatives au consentement éclairé et les préjudices ; 2) implications juridiques, y compris les préoccupations relatives à la vie privée ; 3) implications sociales, y compris les changements dans la dynamique familiale, les perceptions sociétales modifiées et les préoccupations relatives au handicap, la justice et l’équité dans l’accès au test, et la pression sociale pour utiliser le test ; et 4) implications politiques, y compris les préoccupations relatives au coût et au financement, la limitation de la portée du test, ainsi que le conseil, l’éducation et le soutien. Discussion: La discussion des résultats met en évidence plusieurs implications éthiques, juridiques, sociales et politiques de l’utilisation du TPNI pour le SGEF. Ces résultats ont des implications sur la mise en œuvre du TPNI pour le SGEF, y compris la manière dont l’autonomie du futur enfant devrait être équilibrée avec l’autonomie des futurs parents, la portée des conditions qui devraient ou non être testées – et couvertes ou non par le système de santé – et la réglementation de l’introduction du SGEF, entre autres. Des recherches supplémentaires doivent être menées pour répondre à ces préoccupations et ainsi orienter le débat sur la mise en œuvre clinique du SGEF par le biais du TPNI

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI). This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening) such as threats to women’s reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended) and as a diagnostic test (potentially in the future), has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented

Implementation challenges for an ethical introduction of noninvasive prenatal testing: a qualitative study of healthcare professionals' views from Lebanon and Quebec

Background The 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. Methods We 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. Results We 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. Conclusions Our 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

A qualitative study of women and partners from Lebanon and Quebec regarding an expanded scope of noninvasive prenatal testing

Background: In the near future, developments in non-invasive prenatal testing (NIPT) may offer couples the opportunity to expand the range of genetic conditions tested with this technology. This possibility raises a host of ethical and social concerns, such as the type of information (medical vs. non-medical information) that couples might be exposed to and how this might complicate their informed decision-making. Currently, only limited research, mainly carried out in western countries, was conducted on women's and partners' views regarding the potential expansion of NIPT. Methods: This study used semi-structured interviews with pregnant women and their partners to explore their views on future potential NIPT applications such as non-medical sex selection and non-medical traits, paternity testing, and NIPT use for fetal whole genome sequencing (FWGS). It was conducted in Lebanon and Quebec, as case studies to explore the impact of cultural differences on these views. Results: We found no differences and many similarities when comparing the perceptions of participants in both contexts. While couples in both settings disapproved of the use of NIPT for non-medical sex selection and non-medical traits such as physical characteristics, they were near-unanimous about their support for its use for paternity testing in specific cases, such as legal doubts or conflicts related to the identity of the father. Participants were more ambivalent about NIPT for Fetal Whole Genome Sequencing. They supported this use to detect conditions that would express at birth or early childhood, while objecting to testing for adult-onset conditions. Conclusions: These results can further inform the debate on the future uses of NIPT and future policy related its implementation