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Governing the futures of non-invasive prenatal testing: An exploration of social acceptability using the Delphi method
Abstract
Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) offers numerous benefits to pregnant women and their families. It also raises ethical, legal and social concerns regarding, for instance, the possible effects of a routinization of prenatal genetic testing on free and informed decision-making by prospective parents, and the role of the state in governing its use. Technological advances are allowing cfDNA analyses to detect an increasing number of genetic risks and conditions in the fetus, potentially further exacerbating such concerns. From May 2015 to December 2016, we conducted a three-round Policy Delphi study (NR1 = 61, NR2 = 58, NR3 = 47; overall retention rate = 77.0%) to explore the social acceptability (SA) of current and potential future uses of NIPT in Canada according to participants with relevant professional, research or advocacy expertise. Participants came from four groups: healthcare professionals (NR3 = 14), social sciences and humanities researchers (NR3 = 13), patients/disability rights advocates (NR3 = 14), and cultural/religious communities advocates (NR3 = 6). This paper presents SA criteria and contextual contingencies relevant to the assessment of NIPT's SA according to the group. It also reports what uses (conditions or motives) participants thought should be banned, permitted, publicly funded, or promoted as a public health strategy. According to them, conditions resulting in severe pain or early death, as well as trisomies (13, 18, 21) and sex chromosome abnormalities, should be covered by Canadian public health insurance. However, there was wide agreement that direct-to-consumer NIPT should be legally banned, and that testing for fetal sex for non-medical reasons using NIPT should be either proscribed or discouraged. In addition to identifying areas of consensus, our results point to disagreement regarding, for instance, the required level of governance of whole-genome sequencing and testing for late onset conditions with low penetrance. This study also provides a model for exploring the SA of emerging technologies using the Policy Delphi method.
... This technique has been used widely in areas of emerging technologies, interventions or knowledge in order to anticipate issues, facilitate appropriate governance, and set priorities. 20 As this was a consumer engagement study we modified the Delphi design to include a workshop in stage one. While this did not allow for anonymity as per the traditional Delphi study design this format was considered appropriate to allow healthcare consumers to openly engage in discussions, share ideas and knowledge, and voice questions and concerns. ...
... Previous research has also indicated healthcare consumer involvement in research would be improved if the research was understood more through clear explanation 20 and improved health literacy. 22 Workshops therefore began with a short informative presentation about precision medicine. ...
Objectives
Research to develop early screening tools to determine an individual’s risk of developing adult-onset disease is a growing field. Expectant parents may find themselves with an option in the future to undergo screening to determine not only genetic abnormalities in their child but also their risk of developing adult-onset non-communicable diseases (NCD) such as hypertension, obesity or hypercholesterolaemia. To ensure acceptability and feasibility of new screening tools researchers must work in partnership with healthcare consumers to discern consumers’ current understanding and acceptance of these technologies in research and the potential for clinical applications. We sought to engage with healthcare consumers to develop a consensus, using a modified Delphi study design, for the acceptability of (1) screening tools for use within pregnancy that would indicate a child’s risk for developing NCD, and (2) targeted early interventions for those identified at a higher risk of developing NCD using precision medicine approaches. The acceptability of future research design and conduct as well as the implications for implementation into routine healthcare were discussed. In addition, participants were asked to rank the non-communicable diseases they believed were of most importance for precision medicine research focus, in line with recent calls for better involvement of healthcare consumers in setting research questions and defining priority areas.
Design
A modified two-stage Delphi study design including an in-person consumer workshop (stage 1) and online follow-up survey (stage 2), was used to evaluate consumer consensus for research to develop precision medicine tools for early detection and potential intervention to reduce onset of NCDs. The acceptability of research design and conduct and future implications for the implementation of newly developed tools into routine healthcare was also addressed.
Setting and participants
We engaged 76 healthcare consumers in 2020, in the Hunter New England Region, New South Wales, Australia. Participants were recruited from existing healthcare consumer organisations, research programmes and healthcare networks through purposeful selection, with a focus on participants having a broad range of experiences and backgrounds to ensure adequate representativeness.
Results and conclusions
Our findings indicate the majority (98%) of participants in our study believe early screening for risk of NCD in their children was acceptable, provided it was equitable and clear pathways for referral and support were available.
... Cette approche favorise une interaction dynamique entre les panélistes, diminue les temps d'attente entre les rétroactions, et réduit les taux d'attrition au cours de l'étude (13). L'étude Delphi est par ailleurs reconnue comme pertinente pour la prise de décision et l'élaboration de recommandations concrètes en situations complexes (13)(14)(15). Elle offre trois avantages importants : 1) la participation peut se faire par une plateforme web; 2) elle est asynchrone, de sorte que les personnes y prennent part au moment qui leur convient le mieux; et 3) les réponses aux questions sont semi-anonymes, c'est-à-dire que l'identité des personnes n'est connue que par l'équipe de recherche et non par les autres panélistes de la consultation (13)(14)(15)(16). Cette dernière caractéristique favorise l'expression libre de toutes et de tous, en minimisant l'influence indue de relations de pouvoir ou d'autorité sur les réponses (13). ...
... L'étude Delphi est par ailleurs reconnue comme pertinente pour la prise de décision et l'élaboration de recommandations concrètes en situations complexes (13)(14)(15). Elle offre trois avantages importants : 1) la participation peut se faire par une plateforme web; 2) elle est asynchrone, de sorte que les personnes y prennent part au moment qui leur convient le mieux; et 3) les réponses aux questions sont semi-anonymes, c'est-à-dire que l'identité des personnes n'est connue que par l'équipe de recherche et non par les autres panélistes de la consultation (13)(14)(15)(16). Cette dernière caractéristique favorise l'expression libre de toutes et de tous, en minimisant l'influence indue de relations de pouvoir ou d'autorité sur les réponses (13). ...
Le développement de l’éthique de la recherche dans le milieu collégial soulève des préoccupations spécifiques, compte tenu des particularités de ce milieu. Cette étude s’intéresse à trois enjeux prioritaires de la communauté d’éthique de la recherche du collégial : 1) la question des ressources pour l’évaluation éthique par les comités d’éthique de la recherche du réseau collégial; 2) l’évaluation de projets de recherche relevant de plusieurs autorités; et 3) l’évaluation des activités de recherche conduite dans le cadre de cours par des étudiantes et étudiants. Afin de sonder cette communauté sur ses réalités concrètes face à ces enjeux, nous avons réalisé une étude mixte de type Delphi en temps réel grâce à la plateforme Surveylet, au cours de laquelle nous avons mis en dialogue 31 panélistes durant une période totale de cinq semaines. Cet article présente les résultats de notre analyse statistique et thématique des réponses obtenues, les principaux consensus et dissensus identifiés au sujet des trois enjeux, ainsi que des pistes de solutions pour surmonter ces enjeux inspirés par les propositions des panélistes.
... cfDNA is a type of genetic material found circulating freely in the maternal bloodstream. Unlike conventional DNA contained within cells, these fragments, typically contain fewer than 200 DNA base pairs, originate from cells that have died and released their contents into the maternal blood (3). Throughout pregnancy, the mother's bloodstream becomes a dynamic mixture of cfDNA intertwined with placental DNA. ...
... Since its introduction in 2011, over two million NIPTs have been performed, illustrating its growing popularity and rapid commercialization (5). Subsequent advancements in sequencing cfDNA in maternal plasma, have propelled NIPT into mainstream prenatal screening (3,6). NIPT offers considerable flexibility, with applicability at three distinct time points: before sonography, after sonography, or following the first-trimester test (7). ...
Since its debut in 2011, Non-Invasive Prenatal Testing (NIPT) has continually demonstrated its effectiveness in detecting an expanding number of diseases. NIPT offers a less invasive approach to prenatal chromosomal disease screening, providing prospective parents with vital information to better prepare for their potential pregnancy outcomes. NIPT was primarily designed for screening trisomy 13, 18, and 21. However, its scope has since broadened to encompass microdeletions and autosomal dominant monogenic diseases. Conversely, the normalization of NIPT can have unintended consequences. Some patients opt for NIPT without any medical indications, driven by a desire to remain cautious. This over-screening for chromosomal abnormalities can exacerbate pregnancy-related anxiety, as individuals might feel pressured into taking the test unnecessarily. While NIPT can be highly successful when conducted correctly, it is not infallible, and obstetricians play a crucial role in managing patient expectations. This includes providing genetic counseling to individuals with relevant genetic information regarding their personal and family histories. In the context of NIPT, a bioinformatics analysis is performed on a cell-free DNA (cfDNA) sample extracted from the mother’s placenta to determine the fetal fraction (FF). This FF measurement is vital for quality control and ensuring statistical confidence in the test results. Raising awareness among clinicians about the significance of FF enhances patient care and alleviate concerns about the possibility of failed NIPT. This paper aims to explore the ongoing debates and more specifically the significance and pitfalls of NIPT on a psychosocial and ethical scale, all while highlighting the importance of genetic counseling.
... Since the 1990s, Hallowell and Gambatese (2010) have noticed an increase in the use of the Delphi method in construction research. The Delphi method is frequently used in social science (Skulmoski et al., 2007;Dupras et al., 2020) and construction Gunduz & Elsherbeny, 2020) research to provide a real-world knowledge in real-time (Saka & Chan, 2019). It is qualitative and quantitative research technique used to reduce bias and ensure that participants hold appropriate qualifications. ...
... The collected data was analyzed according to Spearman rank-order correlation, score percentage, and mean to standard deviation ratio; after round two, the results are significant and meet the criteria established in existing literature (Hallowell & Gambatese, 2010;Kalaian & Kasim, 2012;Ameyaw et al., 2016;Gunduz & Elsherbeny, 2020;Kermanshachi et al., 2020). The ranking of the factors and the consensus among the experts were examined through simple mode scoring, mean scoring, Kendall's concordance coefficient, and a Chi-Square test, which also met the requirements for significance (Alomari et al., 2018;Dupras et al., 2020). The agreement strength was measured through the IRA indicator (Mansour et al., 2022), as shown in Table 6, and a significant level of agreement is found, and all groups are at the extremely important or very important level and inline with previous literature' result (Gunduz & Elsherbeny, 2020). ...
Change orders are a major challenge in the construction industry due to the associated time and cost impacts. Thus, managing change effectively assists in alleviating cost overruns and delays. Avoiding change orders and controlling them during project phases requires comprehensive research on the factors affecting the change orders management (COM) performance. This study contributes to existing knowledge by introducing a COM performance measurement framework to help construction professionals evaluate, track, and manage COM performance. A comprehensive literature review, personal meetings, and the Delphi technique are utilized to identify 49 performance factors, categorized into 7 COM groups. 13 Delphi panel members are selected according to purposive sampling technique. The collected data are examined through normality and reliability tests and then analyzed by Spearman’s correlation coefficient, score percentage, and the mean to standard deviation ratio to decide whether to continue with the Delphi method. Consensus between the panelists is reached after the second round of Delphi by the utilization of nonparametric statistical tests. The Delphi study results are followed up by measuring the inter-rater agreement (IRA) and ranking the COM performance factors using the sum rank weighting method. Finally, an operational support system framework that takes into consideration the project life cycle of a project is developed to manage and control these factors to decrease disputes between project parties that occur due to improper COM performance.
... The Delphi method is a management decision tool for creating public policy, forecasting, and guiding industry that was proposed and developed by the RAND Corporation during the 1950s and 1960s [61,62]. It is a widely accepted and modifiable process for obtaining information characterized by semi-anonymity and iterative questionnaires [63]. The Delphi method works well when the ...
... The Delphi method is a management decision tool for creating public policy, forecasting, and guiding industry that was proposed and developed by the RAND Corporation during the 1950s and 1960s [61,62]. It is a widely accepted and modifiable process for obtaining information characterized by semi-anonymity and iterative questionnaires [63]. The Delphi method works well when the opinions of relevant experts and stakeholders are needed and the empirical evidence is uncertain or lacking, and it has been demonstrated as a reliable method in many areas [64,65]. ...
Building Information Modeling (BIM) technology has promoted the development of the architecture, engineering, and construction (AEC) industry, but has encountered many barriers to its application in China. Therefore, identifying the barriers to BIM application and capturing their interactions are essential in order to control and eliminate the determined barriers. From this standpoint, 23 BIM application barriers were identified through a literature review and expert interviews. Furthermore, the interactions among them were determined based on the Delphi method, which was the foundation for establishing the BIM application barrier network (BABN). Then, the software Pajek was employed to construct the network model and reveal its topological characteristics based on complex network theory, including degree, betweenness, eigenvector, clustering coefficient, network diameter, and average path length. As indicated by the results, BABN possesses scale-free network property because its cumulative degree distribution obeys power–law distribution. BABN is also a small-world network, due to its relatively high clustering coefficient as well as small average path length, implying that barrier propagation in BABN is fast. In addition, the results are discussed and recommendations are proposed. This research will help BIM stakeholders to develop coping strategies to control and eliminate BIM application barriers for the sake of driving BIM sustainable development.
... The group of experts is not physically assembled. Delphi has been applied mostly in the fields of science and technology [38,39], with some other applications in education [40,41], economy [42,43], healthcare [44,45], public policy [46,47], and business [48,49]. ...
Creating a suitable travel package has become increasingly difficult for businesses within the tourism industry because of various factors affecting tourists’ decision-making behavior and businesses’ desire to make profits. This paper proposes a novel approach to service design within the tourism industry by integrating the analytic hierarchy process (AHP) and the theory of inventive problem solving (TRIZ) to design a suitable travel package while taking into account both consumer and business perspectives. Through a case study application, we identify the most important consumer and business factors with AHP and the Delphi method and then solve the existing contradiction with TRIZ. We collect both qualitative and quantitative data from experts and visitors through a survey approach consisting of 56 fully completed responses for a target of only 35 responses as required by AHP. We analyze these data using Super Decisions software to obtain the necessary results. AHP helps weigh and rank the 4 criteria and 16 sub-criteria, whereas TRIZ provides recommendations to resolve the contradiction, based on the 40 inventive principles, to create a cost-effective travel package to Belize in Central America. The main contradiction was feasibility versus cost, and the most applicable corresponding principles were dynamization, self-service, local quality, and prior action. Overall, this paper gives vital insights into the tourism sector to anyone interested in this topic and provides a precise AHP-TRIZ application framework with clear procedures. The results and methodologies could also help scholars and academics with future AHP-TRIZ applications in other research fields or possible expansions of this new approach.
... One of these techniques is the Delphi method, a social research technique that attempts to obtain a credible opinion from a group of experts (Dalkey and Helmer 1963). The Delphi method is commonly employed in social sciences and construction management research (Dupras et al. 2020;Gunduz and Elsherbeny 2020) to provide up-to-date practical knowledge (Saka and Chan 2020). It is a valuable tool in circumstances where objective data are unavailable, scientific proof is lacking, or experiments would be impractical or unethical. ...
An effective facility management process is crucial to overall firm performance and is becoming a core competency for organizations seeking to gain a competitive advantage. The recent literature on facility management reveals that poor facility management is a major cause of management inefficiency, leading directly to budget overruns, maintenance delays, repetition of work, variations, non-compliance incidents, unnecessary risk, and dissatisfied customers. Therefore, facility management firms should pay close attention to the most critical success factors in order to effectively manage and measure performance. This paper presents a multidimensional Campus Facility Management Performance Framework (CFMPF) that addresses both operational and systematic factors. Facility management companies, owners, contractors, and consultants can use this framework to identify systemic weaknesses, using key indicators to specifically assess the effectiveness and success of facility management. The significance of 45 key facility management success factors across seven categories was determined via a literature review, expert interviews, and the Delphi method. The seven (7) process groups are: Campus Facility Work Force Management, Campus Facility Communication Management, Campus Facility Systems Management, Campus Facility Organizational Management, Campus Facility Financial Management, Campus Sustainability & Environment Management, and Campus Facility Assets Management. To verify the overall agreement via the Delphi rounds, the score percentage and the standard deviation to mean ratio were examined. Mean value and inter-rater agreement (IRA) analyses were conducted to evaluate the correlation between the factors and facility performance. This research adds to the body of knowledge by presenting a systematic and operational framework for campus facility management that identifies the underlying factors influencing performance and fills the gaps left by previous studies.
... According to the Delphi method, from May 2015 to December 2016, a three-stage study of the social acceptability of the current and potential future use of non-invasive prenatal testing technology using extracellular DNA (allows identifying the number of genetic risks and conditions in fetus) was carried out, which caused ethical, legal and social problems associated with the infringement of widespread prenatal genetic testing on the freedom of decision-making by future parents [25]. ...
The research is based on a comprehensive analysis of scientific articles devoted to the problems of obtaining, storing and using genomic information about a person. As a result of the analysis, the author put forward a hypothesis about the interdisciplinary interaction of social sciences and humanities in the process of research, the object of which is the human genome. The study tests the proposed hypothesis on the basis of the disclosure of its subject - the human genome as an object of interdisciplinary social and humanitarian research and the system of methodological means corresponding to them. During the research, the author relied on the general philosophical means of the methodology of science (categories of materialistic dialectics, foundations, conditions and principles of scientific knowledge), the systemstructural method and general logical methods (analogy, synthesis, analysis) used in socio-humanitarian studies. As a result of the study, it was concluded that the special significance of the consequences of the study and use of human genome for society and each individual personally determines the a priori social and humanitarian interdisciplinary connections, due to which human genome becomes the object of interdisciplinary social and humanitarian research. The analysis of these studies allowed revealing their subject orientation towards the social regulation of genomic research, the legal protection of genomic information and the focus on standardization (and in this sense, foreseeability) of research on human genome and the use of their results. At the same time, the use of methodological means of three levels is traced: philosophical and methodological analysis, general scientific methodological principles and a special scientific methodological approach.
... The deliberations of these bodies exemplify the expansion of regulatory concerns in biomedicine, moving beyond issues of safety and effectiveness to include questions of utility, ethics and public as well as private good (Salter and Jones, 2005). This broader normative agenda has continued to inform deliberation on new waves of genomic innovation such as Non Invasive Prenatal Testing (NIPT), as illustrated by the work of Dupras et al. (2020). ...
... In a qualitative study of Quebec HCPs, they expressed concerns about economic constraints and about cost barriers promoting access inequalities (64). A Canadian Delphi study involving HCPs, academic researchers, and patient advocates showed support for public funding of NIPT for conditions characterized by severe pain or early death but not for nonmedical conditions (49). A qualitative study showed that Ontarian women have mixed opinions-balancing the desire to use NIPT as they wish, while acknowledging a need to restrict its use for conditions of limited or nonmedical severity (164). ...
Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around the world. It carries numerous benefits but also raises challenges, often related to sociocultural, legal, and economic contexts. This article describes the implementation of NIPT in nine countries, each with its own unique characteristics: Australia, Canada, China and Hong Kong, India, Israel, Lebanon, the Netherlands, the United Kingdom, and the United States. Themes covered for each country include the structure of the healthcare system, how NIPT is offered, counseling needs and resources, and cultural and legal context regarding disability and pregnancy termination. Some common issues emerge, including cost as a barrier to equitable access, the complexity of decision-making about public funding, and a shortage of appropriate resources that promote informed choice. Conversely, sociocultural values that underlie the use of NIPT vary greatly among countries. The issues described will become even more challenging as NIPT evolves from a second-tier to a first-tier screening test with expanded use.
Expected final online publication date for the Annual Review of Genomics and Human Genetics Volume 22 is August 2021. Please see http://www.annualreviews.org/page/journal/pubdates for revised estimates.
... Evidence suggests that knowledge generation processes can be improved by ensuring diversity among the recruited participants [46]. For the purpose of this study, the Delphi panel members were defined as a group of members knowledgeable of and with work experience in the areas being studied and able to participate in the process [47]. ...
Environmental health (EH) is influenced by complex interactions between health and the built and natural environments, there being little research on its specificities in urban settings. The use of suitable indicators to monitor and assess EH is fundamental in informing evidence-based interventions at the local level. A participatory approach to selecting indicators to inform the monitoring and assessment of EH in Lisbon is herein considered. Evidence derived from a systematic review of literature and data from Lisbon and Portuguese databases were analyzed by 12 Portuguese experts in individual semi-structured interviews. The interviews aimed at identifying relevant indicators and important emerging issues in the Lisbon urban setting. The outputs from the interviews were validated by a two-round Web-Delphi process in which panelists (22 experts) from different areas of expertise expressed their views regarding the relevance of the indicators for the analysis of EH in urban settings. Seventeen indicators were validated in the Web-Delphi process. High participation achieved along this process supports the view that this participatory approach was useful for validation. Results from the adopted participatory approach point out gaps in the collection of noise and mobility indicators data and raise emerging issues on housing indicators that require further research. The results also suggest the need for local action to improve indicators and tools in order to help the monitorization of EH in urban contexts. The adopted participatory approach can be replicated for other Portuguese and European urban settings.
The rapid advancement of digital technology has enabled digital transformation across various sectors, including construction. The construction industry has long been associated with conventional, labor-intensive practices that can adversely influence the entire construction process. However, this culture is changing as key players in the sector are progressively identifying and embracing the vast opportunities and associated benefits of using digital tools and technologies to improve the performance and outcomes of the overall project lifecycle. To this end, this study uses the Delphi technique to identify 70 factors that contribute to the digital transformation of the construction industry, categorizing them into five groups: management, design, technology, policy, and infrastructure. Delphi analysis is used to examine the critical success factors for digital transformation identified in the literature and rate their importance during the preconstruction, construction, and facility management phases. Furthermore, this research results in the introduction of the Digital Transformation Level of Readiness Framework (DTRLF) to help facility management firms, clients, organizations, contractors, and designers comprehend the implementation of digital transformation within their respective domains and support decision-makers in establishing action to adapt related technologies in their respected project phases.
Following its introduction to the market in 2011, the rapid spread of noninvasive prenatal testing (NIPT) was driven by commercial developers of the technology. The numerous benefits it offers are recognized by users and clinicians, but its introduction also raises several concerns regarding ethical, social, legal, and policy implications. This chapter describes the NIPT implementation in three countries: China, Canada, and Lebanon. These countries are selected since they represent a diversity of cultural frameworks and healthcare system structures. We discuss each country’s healthcare system, NIPT offer and coverage, financial and organizational resources, and cultural and policy contexts with respect to disability and pregnancy termination. The comparison of these factors across the three countries illustrates how the implementation of NIPT is shaped by cultural values and socioeconomic contexts. It also reveals the importance of some key universal ethical requirements for the responsible implementation of NIPT in any cultural context.KeywordsCross-cultural perspectivesNIPTChinaCanadaLebanonEthicalSocialEconomicPolicy implications
Open Research aims to make research more accessible, transparent, reproducible, shared and collaborative. Doing so is meant to democratize and diversify access to knowledge and knowledge production, and ensure that research is useful outside of academic contexts. Increasing equity is therefore a key aim of the Open Research movement, yet mounting evidence demonstrates that the practices of Open Research are implemented in ways that undermine this. In response, we convened a diverse community of researchers, research managers and funders to co-create actionable recommendations for supporting the equitable implementation of Open Research. Using a co-creative modified Delphi method, we generated consensus-driven recommendations that address three key problem areas: the resource-intensive nature of Open Research, the high cost of article processing charges, and obstructive reward and recognition practices at funders and research institutions that undermine the implementation of Open Research. In this paper, we provide an overview of these issues, a detailed description of the co-creative process, and present the recommendations and the debates that surrounded them. We discuss these recommendations in relation to other recently published ones and conclude that implementing ours requires ‘global thinking’ to ensure that a systemic and inclusive approach to change is taken.
The possibilities of non-invasive prenatal testing (NIPT) are expanding, and the use of NIPT for adult-onset conditions may become widely available in the near future. If parents use NIPT to test for these conditions, and the pregnancy is continued, they will have information about the child’s genetic predisposition from birth. In this paper, we argue that prospective parents should be able to access NIPT for an adult-onset condition, even when they have no intention to terminate the pregnancy. We begin by outlining the arguments against testing in such a situation, which generally apply the same considerations that apply in the predictive testing of a minor to the fetus in utero. We then contend, firstly, that there are important practical considerations that support availability of testing for prospective parents regardless of their stated intentions. Secondly, we object to the ethical equation of a fetus in utero with a minor. We base our analysis on a view of pregnancy that conceptualises the fetus as a part of the gestational parent, as opposed to the more common ‘container’ model of pregnancy. We suggest that fetal information is best conceptualised as shared information between the gestational parent and future child. Thus, it should be approached in similar ways as other kinds of shared information (such as genetic information with implications for family members), where a person has a claim over their own information, but should be encouraged to consider the interests of other relevant parties.
Diagnostic techniques such as prenatal diagnosis (PND) and preimplantation genetic testing (PGT) provide prospective parents with information on phenotypic or genetic traits, on health status, and on the sex of their offspring. The main goal of both PND and PGT is to avoid having a child with a severe genetic condition. This chapter presents an overview of current laws and policies regarding PND, PGT, and sex selection in 16 different countries: Australia, Belgium, Canada, China, France, India, Israel, Japan, the Netherlands, New Zealand, Singapore, Switzerland, South Africa, Spain, United Kingdom, and the United States. In the countries under study, prenatal diagnosis has long become part of the standard of care in pregnancy. The majority of countries under study govern PND through the adoption of professional guidelines and oversight. PGT is ethically acceptable for conditions that are less serious or of lower penetrance due to the respect for reproductive liberty.
Objective:
As the use of non-invasive prenatal testing (NIPT) increases, its benefits and concerns are being examined through surveys, qualitative studies, and bioethical analysis. However, only scant research has examined public discourse on the topic. This research examined NIPT discussions on the social media platform Reddit.
Method:
Content and qualitative description analysis was performed on 98 NIPT discussions (2682 comments), obtained by inputting "NIPT" into Reddit's search engine.
Results:
Detailing of benefits and concerns was found in collaborative and supportive discussions. Overall, NIPT is seen as valuable and desirable. Some concerns focused on cost-related barriers to access, anxiety related to testing, and interpretation of results. NIPT is often portrayed as offering peace of mind and is sometimes described as a means of preparing for possible outcomes.
Conclusion:
In the discussions analyzed, NIPT is seen, overall, as valuable and greater access to it is desired. Some questions and concerns about NIPT were evident. Reddit stands as a valuable and appreciated tool for individuals wishing to discuss NIPT and to solicit and share information, opinions, and experiences. Health care providers should consider the ways social platforms such as Reddit can be engaged to better inform and educate the public.
Background
Noninvasive prenatal testing (NIPT) provides important benefits yet raises ethical concerns. We surveyed Canadian pregnant women and their partners to explore their views regarding pressure to test and terminate a pregnancy, as well as other societal impacts that may result from the routinization of NIPT.
Methods
A questionnaire was offered (March 2015 to July 2016) to pregnant women and their partners at five healthcare facilities in four Canadian provinces.
Results
882 pregnant women and 395 partners completed the survey. 64% of women anticipated feeling no pressure to take the test if it were offered routinely, and 39% were not concerned about routinization leading to increased pressure to terminate a pregnancy of a fetus with Down Syndrome. Regarding other social concerns possibly resulting from routinization, pregnant women were most concerned regarding a reduction in resources available for people with Down Syndrome and their families and least concerned regarding a decrease in the population of people with Down Syndrome.
Conclusions
Our findings reflect the concerns expressed by pregnant women and their partners, both personal (pressure to test, pressure to terminate) and societal (e.g., regarding potential negative impact on people with disabilities and their families). Even if most women were not concerned about feeling pressured to test due to NIPT routinization, a large minority express concerns that should not be taken lightly. Moreover, a majority of respondents were concerned regarding pressure to terminate pregnancies due to NIPT routinization as well as regarding most societal impacts they were queried on, especially the possible future reduction in resources available for people with DS and their families. Canadian policy-makers should consider these potential negative ramifications of NIPT and ensure that appropriate social policies accompany its implementation.
Objective:
This study sought to assess Canadian pregnant women's and their partners' preferences for information about non-invasive prenatal testing (NIPT).
Methods:
Pregnant women and their partners across Canada were surveyed as part of the Personalized Genomics for prenatal Aneuploidy Screening Using maternal blood (PEGASUS) study.
Results:
A total of 882 pregnant women and 395 partners participated. Women preferred being informed by a physician (77.2%). They preferred getting information ahead of time, except for information about resources for families with Down syndrome, which they preferred getting with test results. More than half thought that written consent is important (63.7%) and could decide whether to do NIPT on the day they received the information (54.9%). Women preferred to be informed of results by telephone (43.7%) or in person (28%), but they preferred in person if they were considered at high risk for Down syndrome on the basis of the results (76%). The partner was the person whose input was considered most important (62.6%). Partners' preferences were similar, except that partners tended to want information later (at the time of the test or with the results) and felt that their opinion was not considered as highly by health professionals.
Conclusion:
Canadian women want information about NIPT early, in person, by a knowledgeable physician. Partners also want to be informed and involved in the decision-making process.
Background: Canadian policies regarding the implementation and public coverage of non-invasive prenatal testing (NIPT) are heterogeneous and shifting, with NIPT being publicly covered for high-risk pregnancies in some provinces, but not others. Such a diverse and evolving policy landscape provides fertile ground for examining the preferences of pregnant women, their partners, and health professionals regarding the implementation and coverage of NIPT by the public healthcare system, as well as the factors influencing their preferences, which is what the present study does. Methods: In this paper, we report the results of three-large scale Canadian surveys, in which 882 pregnant women, 395 partners of pregnant women, and 184 healthcare professionals participated. Results:
The paper focuses on preferences regarding how and when NIPT should be used, as well as the factors influencing these preferences, and how coverage for NIPT should be provided. These are correlated with respondents’ levels of knowledge about Down syndrome and testing technologies and with their stated intended use of NIPT results.
Conclusion: Salient is the marked difference between the preferences of prospective parents and those of healthcare professionals, which has potential implications for Canadian policy regarding NIPT implementation and insurance coverage.
How should we regulate genome editing in the face of persistent substantive disagreement about the moral status of this technology and its applications? In this paper, we aim to contribute to resolving this question. We first present two diametrically opposed possible approaches to the regulation of genome editing. A first approach, which we refer to as “elitist,” is inspired by Joshua Greene’s work in moral psychology. It aims to derive at an abstract theoretical level what preferences people would have if they were committed to implementing public policies regulating genome editing in a context of ethical pluralism. The second approach, which we refer to as the democratic approach, defended by Francoise Baylis and Sheila Jasanoff et al., emphasizes the importance of including the public’s expressed attitudes in the regulation of genome editing. After pointing out a serious shortcoming with each of these approaches, we propose our own favored approach—the “enlightened democracy” approach—which attempts to combine the strengths of the elitist and democratic approaches while avoiding their weaknesses.
Noninvasive 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 (noninvasive, high specificity and sensitivity, early detection of abnormalities) compared to existing prenatal screening tests. 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 (also referred to as “procreative liberty” and “reproductive freedom”), by enabling pregnant women and couples to access information about the fetus in order to choose a certain course of action for pregnancy management (continuation of pregnancy and preparation for birth or termination). So how is the framework of reproductive autonomy operationalized in non-Western cultural contexts? We used Quebec, Canada, and Beirut, Lebanon, for 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 to (1) explore the perceptions, values, and preferences of pregnant women and their partners about NIPT and (2) examine how these values and perceptions influence reproductive autonomy and decision making in relation to NIPT in these two different cultural settings, Lebanon and Quebec. Our findings may guide health care professionals in providing counseling and in helping women and their partners make better informed prenatal testing decisions. Further, at a policy level, such understanding might inform the development of local guidelines and policies that are appropriate to each context.
Background:
Non-Invasive Prenatal Testing (NIPT) is a technology which provides information about fetal genetic characteristics (including sex) 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.
Methods:
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.
Results:
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.
Conclusions:
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.
One of the common issues related to tool use is to know why certain tools are chosen, accepted and used by users, while others are rejected. The aim of this paper is to find out if there are criteria related to the tool that can explain this decision. This manuscript proposes a literature review about acceptance and acceptability and presents the different historical approaches that have proposed an explanation to this issue (i.e. ergonomics approach, social approach, productivity-oriented approach, hedonic approach, user-experience approach), together with acceptance criteria listed in the field of psychology, ergonomics or cognitive science. Subsequently, a synthetic view and an interpretation of the evolution of the issue of tool acceptance are proposed, along with a new classification of acceptance and acceptability criteria, which consists in grouping criteria present in the literature in four meta-criteria.
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.
This article seeks to deepen our understanding of the responsible research and innovation (RRI) approach as it relates to health care systems, where the notion of responsibility is already deeply embedded. We empirically flesh out the RRI framework developed by Stilgoe et al. by drawing on the content of three mixed focus groups on health care system challenges that technological innovation could help address. These focus groups were held in Montreal (Quebec, Canada) and brought together users of medical technology (patients, clinicians), developers (engineers, designers), and innovation managers (at universities, in hospitals, and in biomedical firms). These empirical data offer contrasting views that are used to explore the four dimensions of the framework (anticipation, reflexivity, inclusion, and responsiveness) in order to derive a more specific understanding of what responsible medical innovation may entail.
New technology brings great benefits, but it can also create new and significant risks. When evaluating those risks in policymaking, there is a tendency to focus on social acceptance. By solely focusing on social acceptance, we could, however, overlook important ethical aspects of technological risk, particularly when we evaluate technologies with transnational and intergenerational risks. I argue that good governance of risky technology requires analyzing both social acceptance and ethical acceptability. Conceptually, these two notions are mostly complementary. Social acceptance studies are not capable of sufficiently capturing all the morally relevant features of risky technologies; ethical analyses do not typically include stakeholders’ opinions, and they therefore lack the relevant empirical input for a thorough ethical evaluation. Only when carried out in conjunction are these two types of analysis relevant to national and international governance of risky technology. I discuss the Rawlsian wide reflective equilibrium as a method for marrying social acceptance and ethical acceptability. Although the rationale of my argument is broadly applicable, I will examine the case of multinational nuclear waste repositories in particular. This example will show how ethical issues may be overlooked if we focus only on social acceptance, and will provide a test case for demonstrating how the wide reflective equilibrium can help to bridge the proverbial acceptance-acceptability gap.
Non-invasive prenatal testing (NIPT) is an exciting technology with the potential to provide a variety of clinical benefits, including a reduction in miscarriages, via a decline in invasive testing. However, there is also concern that the economic and near-future clinical benefits of NIPT have been overstated and the potential limitations and harms underplayed. NIPT, therefore, presents an opportunity to explore the ways in which a range of social pressures and policies can influence the translation, implementation, and use of a health care innovation. NIPT is often framed as a potential first tier screen that should be offered to all pregnant women, despite concerns over cost-effectiveness. Multiple forces have contributed to a problematic translational environment in Canada, creating pressure towards first tier implementation. Governments have contributed to commercialization pressure by framing the publicly funded research sector as a potential engine of economic growth. Members of industry have an incentive to frame clinical value as beneficial to the broadest possible cohort in order to maximize market size. Many studies of NIPT were directly funded and performed by private industry in laboratories lacking strong independent oversight. Physicians' fear of potential liability for failing to recommend NIPT may further drive widespread uptake. Broad social endorsement, when combined with these translation pressures, could result in the “routinization” of NIPT, thereby adversely affecting women's reproductive autonomy. Policymakers should demand robust independent evidence of clinical and public health utility relevant to their respective jurisdictions before making decisions regarding public funding for NIPT.
With the new and highly accurate non-invasive prenatal test (NIPT), new options for screening become available. I contend that the current state of the art of NIPT is already in need of a thorough ethical investigation, and that there are different points to consider before any chromosomal or sub-chromosomal abnormality is added to the screening panel of a publicly funded screening program. Moreover, the application of certain ethical principles makes the inclusion of some conditions unethical in a privately funded scheme, even if such screening would enhance a woman’s reproductive autonomy. I use the examples of the 22q11deletion and the Sex Chromosome Aneuploidies to demonstrate two things. On the one hand, a screening program aimed solely at the detection of Down syndrome is subject to the technological imperative and should be reassessed in the light of technologies that allow for the detection of conditions that are at least as severe. On the other hand, some chromosomal abnormalities should not be included in any screening programs, as this would violate certain ethical principles, such as the right of the future child to genetic privacy.
Genomics-based non-invasive prenatal screening using cell-free DNA (cfDNA screening) was proposed to reduce the number of invasive procedures in current prenatal diagnosis for fetal aneuploidies. We review here the clinical and ethical issues of cfDNA screening. To date, it is not clear how cfDNA screening is going to impact the performances of clinical prenatal diagnosis and how it could be incorporated in real life. The direct marketing to users may have facilitated the early introduction of cfDNA screening into clinical practice despite limited evidence-based independent research data supporting this rapid shift. There is a need to address the most important ethical, legal, and social issues before its implementation in a mass setting. Its introduction might worsen current tendencies to neglect the reproductive autonomy of pregnant women.
This paper contains a joint ESHG/ASHG position document with recommendations regarding responsible innovation in prenatal screening with non-invasive prenatal testing (NIPT). By virtue of its greater accuracy and safety with respect to prenatal screening for common autosomal aneuploidies, NIPT has the potential of helping the practice better achieve its aim of facilitating autonomous reproductive choices, provided that balanced pretest information and non-directive counseling are available as part of the screening offer. Depending on the health-care setting, different scenarios for NIPT-based screening for common autosomal aneuploidies are possible. The trade-offs involved in these scenarios should be assessed in light of the aim of screening, the balance of benefits and burdens for pregnant women and their partners and considerations of cost-effectiveness and justice. With improving screening technologies and decreasing costs of sequencing and analysis, it will become possible in the near future to significantly expand the scope of prenatal screening beyond common autosomal aneuploidies. Commercial providers have already begun expanding their tests to include sex-chromosomal abnormalities and microdeletions. However, multiple false positives may undermine the main achievement of NIPT in the context of prenatal screening: the significant reduction of the invasive testing rate. This document argues for a cautious expansion of the scope of prenatal screening to serious congenital and childhood disorders, only following sound validation studies and a comprehensive evaluation of all relevant aspects. A further core message of this document is that in countries where prenatal screening is offered as a public health programme, governments and public health authorities should adopt an active role to ensure the responsible innovation of prenatal screening on the basis of ethical principles. Crucial elements are the quality of the screening process as a whole (including non-laboratory aspects such as information and counseling), education of professionals, systematic evaluation of all aspects of prenatal screening, development of better evaluation tools in the light of the aim of the practice, accountability to all stakeholders including children born from screened pregnancies and persons living with the conditions targeted in prenatal screening and promotion of equity of access.European Journal of Human Genetics advance online publication, 18 March 2015; doi:10.1038/ejhg.2015.57.
Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.
This article has a theoretical and a practical objective. The theoretical objective is to conceptualize responsible innovation as the adequate and timely inclusion of public values relevant to technological development. Technological innovations always occur in a specific institutional context, closely connected to stakeholder dynamics. Hence, an ideal approach to responsible innovation requires interdisciplinary research that incorporates: (i) the ethics of technology, to investigate the role of values in design; (ii) institutional theory, to understand the parts played by institutions in realizing values; and (iii) policy, planning and science, technology and society literature, to focus on stakeholder engagement. The practical objective is to explain how this approach can be operationalized. Since values emerge and evolve during the development and implementation of technologies, we take public debate to be the empirical source for extracting public values. Several salient questions need to be addressed such as: which and whose opinion should count, and how should value trade-offs be facilitated?
Background
Non-invasive prenatal testing (NIPT) for aneuploidies is now available through commercial companies in many countries, including through private practice in the United Kingdom (UK). Thorough evaluation of service delivery requirements are needed to facilitate NIPT being offered more widely within state funded healthcare systems such as the UK’s National Health Service (NHS). Successful implementation will require the development of laboratory standards, consideration of stakeholder views, an analysis of costs and development of patient and health professional educational materials.
Methods/Design
NIPT will be offered in an NHS setting as a contingent screening test. Pregnant woman will be recruited through six maternity units in England and Scotland. Women eligible for Down’s syndrome screening (DSS) will be informed about the study at the time of booking. Women that choose routine DSS will be offered NIPT if they have a screening risk ≥1:1000. NIPT results for trisomy 21, 18, 13 will be reported within 7–10 working days. Data on DSS, NIPT and invasive testing uptake, pregnancy outcomes and test efficacy will be collected. Additional data will be gathered though questionnaires to a) determine acceptability to patients and health professionals, b) evaluate patient and health professional education, c) assess informed choice in women accepting or declining testing and d) gauge family expenses. Qualitative interviews will also be conducted with a sub-set of participating women and health professionals.
Discussion
The results of this study will make a significant contribution to policy decisions around the implementation of NIPT for aneuploidies within the UK NHS. The laboratory standards for testing and reporting, education materials and counselling strategies developed as part of the study are likely to underpin the introduction of NIPT into NHS practice.
NIHR Portfolio Number
13865
New technologies analyzing fetal DNA in maternal blood have led to the wide commercial availability of non-invasive prenatal testing (NIPT). We present here for clinicians the ethical and policy issues related to an emerging practice option. Although NIPT presents opportunities for pregnant women, particularly women who are at increased risk of having a baby with an abnormality or who are otherwise likely to access invasive prenatal testing, NIPT brings significant ethics and policy challenges. The ethical issues include multiple aspects of informed decision-making, such as access to counselling about the possible results of the test in advance of making a decision about participation in NIPT. Policy considerations include issues related to offering and promoting a privately available medical strategy in publicly funded institutions. Ethics and policy considerations merge in NIPT with regard to sex selection and support for persons living with disabilities.
I provide a vision and definition of Responsible Research and Innovation and propose a broad framework for its implementation under Research and Innovation schemes around the world. I make the case that RRI should be understood as a strategy of stakeholders to become mutual responsive to each other and anticipate research and innovation outcomes underpinning the "grand challenges" of our time for which they share
> responsibility.> Research and Innovation processes need to become more responsive and adaptive to these grand challenges. This implies, among other, the introduction of broader foresight and impact assessments for new technologies beyond their anticipated market-benefits and risks. Social benefits of new technologies need to take into account widely shared public values. This implies a paradigm shift in innovation policy, moving away from an emphasis on key technologies towards issue and mission oriented policies.
Background information can be found on: http://Renevonschomberg.wordpress.com
Non-invasive prenatal testing (NIPT) and its potential to test for multiple disorders has received much attention. This study explores attitudes of women and men towards NIPT, and their views on widening the scope of prenatal testing in a country with a low uptake of prenatal screening (The Netherlands). Five focus groups with low-risk pregnant women (n=28), three focus groups with men (n=19) and 13 interviews with high- and low-risk pregnant women were conducted. Participants felt that current prenatal screening has great disadvantages such as uncertain results and risk of miscarriage from follow-up diagnostics. Characteristics of NIPT (accurate, safe and early testing) could therefore diminish these disadvantages of prenatal screening and help lower the barrier for participation. This suggests that NIPT might allow couples to decide about prenatal testing based mostly on their will to test or not, rather than largely based on fear of miscarriage risk or the uncertainty of results. The lower barrier for participation was also seen as a downside that could lead to uncritical use or pressure to test. Widening the scope of prenatal testing was seen as beneficial for severe disorders, although it was perceived difficult to determine where to draw the line. Participants argued that there should be a limit to the scope of NIPT, avoiding testing for minor abnormalities. The findings suggest that NIPT could enable more meaningful decision-making for prenatal screening. However, to ensure voluntary participation, especially when testing for multiple disorders, safeguards on the basis of informed decision-making will be of utmost importance.European Journal of Human Genetics advance online publication, 19 March 2014; doi:10.1038/ejhg.2014.32.
uilding consensus is an essential com- ponent of any policy-making process. The hallmarks of the policy Delphi method are to bring together stakeholders with opposing views and to systematically attempt to facilitate consensus as well as to identify divergence of opinion (Strauss & Zeigler, 1975). As many health policy issues are complex, the policy Delphi method is an appropriate tool because it can address a multiplicity of issues and provide direction for policy changes (Critcher & Glad- stone, 1998). Unfortunately, this method has not been widely used or reported in the literature (Critcher & Gladstone, 1998; Linstone & Turoff, 1975). The purposes of this article are to describe the use of the policy Delphi method in building con- sensus for public policy and to propose a tech- nique for measuring the degree of consensus. The application of the method is illustrated by a case example from a study of state legislators' views on tobacco policy (Hahn, Toumey, Rayens, & McCoy, 1999). Because tobacco control policy development is highly contentious, particularly in tobacco- growing states, the policy Delphi method is well suited for building consensus on tobacco policy issues.
Aim:
To explore the opinions of young (future) parents toward noninvasive prenatal testing.
Materials & methods:
A questionnaire was administrated.
Results:
A total of 1006 surveys were completed by visitors of 40 secondhand clothing fairs spread equally over Flanders (Belgium). The respondents expressed an overall positive opinion toward the use and implementation of a noninvasive prenatal test (NIPT). Most respondents claimed that they would test their unborn child for genetic disorders, even if this was to result in a termination of the pregnancy.
Conclusion:
The participants agreed nearly unanimously that NIPT must be offered to pregnant women with an increased risk of having a child with a genetic disorder, but they were also positive about extending NIPT screening to all pregnant women.
Since the 1970s, prenatal testing has been integrated into many health care systems on the basis of two competing and largely irreconcilable rationales. The reproductive autonomy rationale focuses on nondirective counseling and consent as ways to ensure that women's decisions about testing and subsequent care are informed and free of undue pressures. It also represents an easily understandable and ethically convincing basis for widespread access to prenatal testing, since the value of autonomy is well established in Western bioethics and widely recognized by funders of health care. In contrast, the public health rationale approaches prenatal testing as designed to reduce the incidence of certain conditions in the population to reduce the burden of disease. This rationale emphasizes the societal consequences of reproduction and the aggregate impact of women's individual reproductive decisions on the overall health of future populations. In this essay, I argue that, despite what could be seen as a persistent failure to meet the ideals of reproductive autonomy, resisting the public health rationale as a basis for prenatal screening is ethically and pragmatically crucial. I recommend policy mechanisms that can enhance reproductive autonomy at a societal level to support choice at the individual level.
The use of PGD technology to select against genetic disorders and traits is increasing. Although PGD may eliminate some of the obstacles related to conservative options of prenatal diagnosis, it can raise personal, social and moral questions. Ethical issues concerning the justified uses of PGD are a subject of ongoing debate among medical and bioethical communities. Although attitudes toward the acceptable uses of PGD were evaluated among population groups worldwide, bioethics councils were criticized for ignoring public perspectives. In the last decade PGD has been widely used in Israel. The ethical guidelines were created solely by medical-bioethics experts and, some felt, totally isolated from public opinions. Semi-structured in-depth interviews of 37 users (carriers of autosomal recessive, dominant and X-linked disorders, and HLA-matching) were performed. The interviews explored attitudes toward ethical and sociological aspects of PGD. The overall results of this study show highly favorable attitudes of Israeli PGD users toward medical applications. Furthermore, our subjects demonstrate a more permissive stand toward the controversial application of social sex selection albeit with strong objection to esthetic means of selection. PGD users are coping with both genetic disease and load of the PGD procedure. Taking into consideration their opinion is important since it reflects the gains and burdens of these procedures alongside the demand for future optional services. Their attitudes should play an important role in the professional discussion concerning the justified uses of PGD and should significantly influence the design of policy making in this field.
The relation between technology assessment (TA) and responsible research and innovation (RRI) is a very topical (and controversial) issue, as TA is clearly enveloped in broader science, technology and innovation (STI) processes, such as the EU-wide shift towards RRI. In this short response to van Lente et al.’s [Van Lente, Harro, Tsjalling Swierstra, and Pierre-Benoît Joly. 2017. “Responsible Innovation as a Critique of Technology Assessment.” Journal of Responsible Innovation] essay, I first stress that this contribution has several merits; for example, it points to pervasive challenges for TA communities, such as the issue of including normative concerns when assessing innovations, it opens these challenges to debate, without shying away from engaging TA communities. However, I disagree with the authors’ claim that RRI would be ‘a next step of TA’ or even a ‘form of TA’. In my essay, I explain why I believe RRI is different from TA and why, rather than a critique of TA, RRI could instead lead to a travesty of TA, threatening the vitality and the uniqueness of TA institutions in the long-term. Under the spell of RRI, TA risks being reduced to a role of mere provider of ex-ante impact assessments. I conclude that following the money attached to RRI has a price that TA institutions should carefully, critically and reflexively consider before they pay.
Noninvasive, prenatal whole genome sequencing (NIPW) may be a technological reality in the near future, making available a vast array of genetic information early in pregnancy at no risk to the fetus or mother. Many worry that the timing, safety, and ease of the test will lead to informational overload and reproductive consumerism. The prevailing response among commentators has been to restrict conditions eligible for testing based on medical severity, which imposes disputed value judgments and devalues those living with eligible conditions. To avoid these difficulties, we propose an unrestricted testing policy, under which prospective parents could obtain information on any variant of known significance after a careful informed consent process that uses an interactive decision aid to deliver a mandatory presentation on the purposes, techniques, and limitations of genomic testing, as well as optional resources for reflection and consultation. This process would encourage thoughtful, informed deliberation by prospective parents before deciding whether or how to use NIPW.
In its current Framework Programme for Research and Innovation, Horizon 2020, the European Commission identified Responsible Research and Innovation (RRI) as a cross-cutting issue. The responsibility for RRI as a cross-cutting issue lies with the subprogramme Science with and for Society (SwafS). A recurrent theme in the SwafS Expert Advisory Group meetings was the lack of clarity about what RRI is supposed to be. This is an entrance point into a broader reflection on RRI discourse being like the new clothes of the emperor – or perhaps there is not even an emperor (yet). What is happening in and around RRI can be interpreted as conferring reality on this emperor (RRI) by clothing him.
Objective: To evaluate the knowledge and opinions of US obstetric providers who use non-invasive prenatal testing (NIPT) to understand current utilization and guide future best practices.
Methods: A questionnaire was designed to assess the level of knowledge and attitudes of OBGYNs towards screening options for aneuploidy, with a focus on NIPT. Initial questions evaluated obstetrician demographics, practice type, and NIPT familiarity. Subsequent questions were designed to solicit current practices regarding aneuploidy screening as well as opinions, experiences, and implications of NIPT.
Results: Survey respondents identified NIPT as clinically superior to traditional screening methods and indicated that they would like ACOG to formally recommend NIPT for any pregnant woman. Insurance coverage, and therefore cost, was noted as the biggest barrier, and over 81% of surveyed providers would utilize NIPT as a first line screening test if patients’ insurance offered full coverage. The majority of providers who have implemented NIPT into clinical practice indicated improved patient care. While most providers demonstrated accurate understanding of the technology and its application, nearly 15% misunderstood NIPT as being a diagnostic test for fetal aneuploidy.
Conclusion: The results of the survey suggest that there is a desire for changes to current practice guidelines and insurance coverage. Additionally, provider education remains paramount.
It is hard to disagree with the idea of responsible innovation (henceforth, RI), as it enables policy-makers, scientists, technology developers, and the public to better understand and respond to the social, ethical, and policy challenges raised by new and emerging technologies. RI has gained prominence in the policy agenda in Europe and the United States over the last few years. And, along with its rising importance in policy-making, there is also a burgeoning research literature on the topic. Given the historical context from which RI emerges, it should not be surprising that the current discourse on RI is predominantly based on liberal democratic values. Yet, the bias towards liberal democratic values will inevitably limit the discussion of RI, especially in the cases where liberal democratic values are not taken for granted. As such, there is an urgent need to return to the normative foundation of RI, and to explore the notion of ‘responsible innovation’ from nonliberal democratic perspectives...
Selecting against embryos or foetuses on the basis of predicted disability reinforces the belief that disability is inimical to a worthwhile life. The disability critique of pre‐natal testing and pre‐implantation genetic diagnosis (PGD) flows from the belief that life with disability can be valuable to individuals, their families, and society. Disability should be understood as just another form of human variation. Reassessment of the crucial elements of the parent–child relationship is fundamental to create a welcoming society for persons with varying abilities. Reforms should be made to the information provided about the lives of persons with disabilities and their families in order to enhance women and couples’ informed reproductive decision‐making. Additionally, clinicians and genetics professionals need to understand that society contributes significantly to the difficulties that people with disabilities experience in attaining full participation in family and community life.
Key Concepts
Neither PGD nor any method of pre‐natal testing can accurately indicate a potential child's quality of life.
The expressivist argument is only one type of disability critique, which focuses on the negative message that PGD or pre‐natal testing followed by selective embryo implantation or selective abortion sends to current persons living with disabilities.
The disability critique is not primarily expressivist.
Most negative facets of life with disability can be attributed to societal attitudes and practices that are open to change, and not to the medical condition itself.
Clinicians and professionals should understand that they have a role in ending discrimination against people with disabilities, much as they work to practice their professions without sexism or racism.
Disability, like sex, race, and ethnicity, is a legitimate, respectable form of human variation.
Preventing the incidence of disability is quite different from preventing the existence of persons with disability.
Research indicates that people with disabilities and their families fare relatively the same as the rest of the population.
The norms of good parenting include fostering and supporting the uniqueness of individual children, with all their mix of talents, personalities, strengths, and problems.
Information about the nonmedical facets of life with disability and connections to disability support groups need to be provided to prospective parents deciding about their reproductive future.
Despite notable successes, wildlife damage management in suburban situations is widely perceived as difficult because of the vocal resistance of some suburban residents to many mitigation measures. We examined suburban residents' experiences with, concerns about, and acceptance of management actions for white-tailed deer (Odocoileus virginianus), beaver (Castor canadensis), or Canada geese (Branta canadensis) in 3 areas of New York state. We considered 4 types of interventions which represented degrees of invasiveness to the animals of concern: human behavior modification, nonlethal-noninvasive, nonlethal-invasive, and lethal. Results demonstrated that residents' concerns about wildlife were elevated by increasingly severe problem experiences. In addition, residents' acceptance of invasive and lethal methods to resolve wildlife problems in suburban areas was higher than many wildlife managers might expect. Contrary to our predictions, acceptance of invasive and lethal methods was more strongly related to concerns about nuisance and economic damage issues than to concerns about health and safety issues. Our results provide useful information to wildlife professionals for management planning and communication regarding problem-causing wildlife in suburban areas.
Drawing on research in progress, this paper examines the costs for pregnant women of trends towards routine screening in pregnancy. In particular, the notion that the array of choices contingent with prenatal screening may constitute an unwelcome ethical burden for pregnant women will be considered, as well as the extent to which women are able to give free and informed consent for screening. The development of new technologies in the area of reproductive health, including new tests to detect fetal abnormality during pregnancy, has triggered considerable ethical debate about the possible benefits and dangers of such screening. While such debate has tended to focus on the value of the individual technologies themselves, the ethics of how the technologies are implemented, of how the encounter between lay people and biotechnology is best to be conducted, have received comparatively little attention. This is particularly true in the case of prenatal ultrasound, a technology which has increasingly become part of routine prenatal care for the majority of pregnant women._This discussion will consider whether such screening may contribute to an ideological climate in which it may no longer be possible to experience pregnancy as a ‘normal’ embodied state. As an area of concern identified by participants in this research, the issue of informed consent for prenatal screening will be a key focus, including a brief case study highlighting one participant’s experience.
Objective:
To investigate health professionals' opinions toward offering NIPT as first-tier screening test regardless of pregnant women's risk, and toward a potential broader range of disorders.
Methods:
A questionnaire completed by obstetric health professionals (n = 240) after an in-service NIPT training in the West and North of the Netherlands.
Results:
The majority (73%) of respondents favored replacing first trimester combined test (FCT) by NIPT, although 43% preferred to maintain nuchal translucency (NT) measurement. Many respondents believed that replacing FCT by NIPT would only have advantages (57%), would lead to more pregnant women opting for prenatal testing (69%) and would simplify counseling (47%). Differences in attitudes toward counseling between health professionals were observed. When considering NIPT to screen for broader range of disorders, the majority (92%) thought this should include disorders characterized by neonatal death, whereas 52% of the respondents favored testing for fetomaternal risk factors. Overall, 47% thought screening should be offered as a fixed list of disorders.
Conclusion:
Most health professionals favor NIPT instead of FCT, but prefer to maintain NT measurement. If NIPT becomes available as a first-tier screening test, attention remains necessary to ensure that pregnant women make well-informed decisions in line with the aim of prenatal screening.
Noninvasive prenatal genetic testing (NIPT) for chromosomal aneuploidy involving the analysis of cell-free fetal DNA became commercially available in 2011. The low false-positive rate of NIPT, which reduces unnecessary prenatal invasive diagnostic procedures, has led to broad clinician and patient adoption. We discuss the ethical, legal, and social issues raised by rapid and global dissemination of NIPT. The number of women using NIPT is anticipated to expand, and the number of conditions being tested for will continue to increase as well, raising concerns about the routinization of testing and negative impacts on informed decision making. Ensuring that accurate and balanced information is available to all pregnant women and that access to NIPT is equitable will require policy guidance from regulators, professional societies, and payers. Empirical evidence about stakeholders' perspectives and experiences will continue to be essential in guiding policy development so that advances in NIPT can be used effectively and appropriately to improve prenatal care.
The goals of this study were to assess global trends in clinical implementation of Noninvasive Prenatal Testing (NIPT) as commercial tests are marketed increasingly worldwide, and to identify potential challenges for current or future use.
We surveyed clinicians from 46 countries about the availability of NIPT; their experiences with using NIPT; and their views on clinical, ethical, and legal issues affecting implementation in their countries.
Forty-nine respondents from 28 countries completed the survey. The majority reported that NIPT is available in their country (n=43) and that they offer NIPT in their current practice (n=38). Eighteen respondents from 14 countries reported that there are plans to introduce NIPT into routine antenatal care in their country. Test prices varied widely, ranging from 2900, and several respondents observed that high test prices limited or restricted widespread use of NIPT. Responses varied both across and within countries regarding who is offered NIPT, and what the overall screening protocol should be.
This study provides a snapshot of current use and experiences with NIPT globally. It also highlights differences in service provision that exists both across and within countries, emphasizing the need for developing national and international implementation guidelines for NIPT.
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Although non-invasive prenatal testing (NIPT) marks a notable development in the field of prenatal genetic testing, there are some physician liability considerations raised by this technology. As NIPT is still emerging as the standard of care and is just starting to receive provincial funding, the question arises of whether physicians are obligated to disclose the availability of NIPT to eligible patients as part of the physician-patient discussion about prenatal screening and diagnosis. If NIPT is discussed with patients, it is important to disclose the limitations of this technology with respect to its accuracy and the number of disorders that it can detect when compared with invasive diagnostic options. A failure to sufficiently disclose these limitations could leave patients with false assurances about the health of their fetuses and could raise informed consent and liability issues, particularly if a child is born with a disability as a result.
Objectives
NIPT is a recently developed risk assessment technique with high sensitivity and specificity for fetal aneuploidy. The effect NIPT has had on traditional screening and diagnostic testing has not been clearly demonstrated. In this study, NIPT uptake and subsequent changes in the utilization of FTS, CVS and amniocentesis in a single referral center is reported.
Study Design
Monthly numbers of NIPT (in high risk patients), FTS, CVS and amniocentesis were compared between a 35-month baseline period (April 2009-February 2012) before introduction of NIPT, and the initial 16 months following NIPT introduction divided in four month quarters beginning in March 2012 through June 2013.
Results
A total of 1265 NIPT, 6637 FTS, 251 CVS and 1134 amniocentesis were recorded over the 51-month study period in singleton pregnancies of women who desired prenatal screening and diagnostic testing. NIPT became the predominant first trimester screening method by the second quarter following its introduction, increasing by 55.0% over the course of the study period. Total first trimester risk assessments (NIPT+FTS) were not statistically different following NIPT (P=0.312), but average monthly FTS procedures significantly decreased following NIPT introduction, decreasing by 48.7% over the course of the study period. Average monthly CVS and amniocentesis procedures significantly decreased following NIPT introduction, representing a 77.2% and 52.5% decrease in testing, respectively. Screening and testing per 100 morphological ultrasounds followed a similar trend.
Conclusions
NIPT was quickly adopted by our high-risk patient population, and significantly decreased alternate prenatal screening and diagnostic testing in a short period of time.
A comment on “The DNA of Socially Responsible Innovation”
Socially responsible innovation to reduce the ethical, environmental or legal risks of new technologies requires the close cooperation of natural scientists and social scientists as an integral part of research & development.
This article presents evidence that the availability of a new noninvasive test for Down syndrome (known as "MaterniT21") could result in increased uptake of prenatal testing for Down syndrome and an increase in selective abortions of affected fetuses. I argue that people with Down syndrome and those sympathetic to them have reason to object to these developments because bias against cognitive disability is an influence on decisions to test and terminate for Down syndrome, and social practices motivated by bias are objectionable. The article addresses many of the challenges to the disability critique formulated by its detractors. I discuss whether the disability critique is the same as the "expressivist" objection to prenatal testing, the nature of the harm experienced by people with Down syndrome, and the link between prenatal testing and this harm.
To assess the views and likely uptake of non-invasive prenatal testing (NIPT) for trisomy 21 among potential service users in the UK.
Cross-sectional survey.
Four antenatal clinics in England and two websites.
A total of 1131 women and partners.
Questionnaire conducted with women (and partners) recruited through antenatal clinics, a random sample of members of the website Mumsnet, and viewers of the website and Facebook page of the support group Antenatal Results and Choices (ARC).
Factors impacting decision-making towards prenatal testing; views on NIPT, including service delivery and likely uptake; hypothetical scenarios, focused on current screening, invasive testing, and NIPT offered to women with a high-risk screening result.
The vast majority (95.7%; 1071/1119; 95% CI 94.4-96.8%) thought NIPT was a positive development in prenatal care, with 88.2% (972/1103; 95% CI 86.1-90%) indicating that they would use the test, including respondents who would currently decline trisomy 21 screening (P < 0.001). Of the respondents who would have NIPT, 30.7% (299/973; 95% CI = 27.8-33.7%) said that they were 'likely' to terminate an affected pregnancy (including those who would currently decline screening or invasive testing), and 36.5% (355/973; 95% CI 33.5-39.6%) were 'not likely' to terminate an affected pregnancy. Respondents overwhelmingly indicated that safety for the baby was the most important attribute of NIPT (70.1%; 712/1015; 95% CI 67.2-73%).
Respondents were overwhelmingly positive towards the introduction of NIPT. Uptake is likely to be high, and includes women who currently decline screening as well as those who will use the test for information only. Pre-test counselling to ensure that women understand the implications of the test result is essential.
The new technology that will allow genetic testing of a fetus within the first trimester of pregnancy by isolating cell-free fetal DNA (cffDNA) in the mother's blood raises a range of ethical and legal issues. Considered noninvasive, this test is safe and reliable, and may avoid alternative genetic testing by amniocentesis or chorionic villus sampling, which risks causing spontaneous abortion. Ethical and legal issues of cffDNA testing will become more acute if testing expands to fetal whole-genome sequencing. Critical issues include the state of the science or diagnostic art; the appropriateness of offering the test; the implications of denying the test when it is available and appropriate; disclosure and counseling following test results; and management of patients' choices on acquiring test results. A challenge will be providing patients with appropriate counseling based on up-to-date genetic knowledge, and accommodating informed patients' legal choices.