Disparities in integrating non-invasive prenatal testing into antenatal healthcare in Australia: a survey of healthcare professionals.

BACKGROUND: Non-invasive prenatal testing (NIPT) has been clinically available in Australia on a user-pays basis since 2012. There are numerous providers, with available tests ranging from targeted NIPT (only trisomies 21, 18, and 13 +/- sex chromosome aneuploidy) to genome-wide NIPT. While NIPT is being implemented in the public health care systems of other countries, in Australia, the implementation of NIPT has proceeded without public funding. The aim of this study was to investigate how NIPT has been integrated into antenatal care across Australia and reveal the successes and challenges in its implementation in this context. METHODS: An anonymous online survey was conducted from September to October 2022. Invitations to participate were sent to healthcare professionals (HCPs) involved in the provision of NIPT in Australia through professional society mailing lists and networks. Participants were asked questions on their knowledge of NIPT, delivery of NIPT, and post-test management of results. RESULTS: A total of 475 HCPs responded, comprising 232 (48.8%) obstetricians, 167 (35.2%) general practitioners, 32 (6.7%) midwives, and 44 (9.3%) genetic specialists. NIPT was most commonly offered as a first-tier test, with most HCPs (n = 279; 60.3%) offering it to patients as a choice between NIPT and combined first-trimester screening. Fifty-three percent (n = 245) of respondents always offered patients a choice between NIPT for the common autosomal trisomies and expanded (including genome-wide) NIPT. This choice was understood as supporting patient autonomy and informed consent. Cost was seen as a major barrier to access to NIPT, for both targeted and expanded tests. Equitable access, increasing time demands on HCPs, and staying up to date with advances were frequently reported as major challenges in delivering NIPT. CONCLUSIONS: Our findings demonstrate substantial variation in the clinical implementation of NIPT in Australia, including in the offers of expanded screening options. After a decade of clinical use, Australian clinicians still report ongoing challenges in the clinical and equitable provision of NIPT.

NIPT for adult-onset conditions: Australian NIPT users' views.

Noninvasive prenatal testing (NIPT) has become widely available in recent years. While initially used to screen for trisomies 21, 18, and 13, the test has expanded to include a range of other conditions and will likely expand further. This paper addresses the ethical issues that arise from one particularly controversial potential use of NIPT: screening for adult-onset conditions (AOCs). We report data from our quantitative survey of Australian NIPT users' views on the ethical issues raised by NIPT for AOCs. The survey ascertained support for NIPT for several traits and conditions including AOCs. Participants were then asked about their level of concern around implications of screening for AOCs for the future child and parent(s). Descriptive and comparative data analyses were conducted. In total, 109 respondents were included in data analysis. The majority of respondents expressed support for NIPT screening for preventable (70.9%) and nonpreventable AOCs (80.8%). Most respondents indicated concern around potential harmful impacts associated with NIPT for AOCs, including the psychological impact on the future child and on the parent(s). Despite this, the majority of participants thought that continuation of a pregnancy known to be predisposed to an AOC is ethically acceptable. The implications of these data are critically discussed and used to inform the normative claim that prospective parents should be given access to NIPT for AOCs. The study contributes to a body of research debating the ethical acceptability and regulation of various applications of NIPT as screening panels expand.

Negotiating severity behind the scenes: prenatal testing in Germany.

Foetal-related severity is a key concept in policy and legislation relating to access to both reproductive technologies and selective abortions in many countries around the world, but not in Germany. This study sheds light on how 'severity' in the context of prenatal testing is understood and negotiated within the particular socio-cultural and legal context of Germany, where 'severity' relating to foetal clinical findings neither counts as a justification to implement population prenatal screening programs, nor as a legal ground to terminate pregnancy. This study explores the views of women who undergo prenatal testing, as well as of professionals who encounter them, through semi-structured interviews. It showcases how they frame severity and questions whether the existing legal and regulatory framework relating to prenatal testing and termination of pregnancy addresses their concerns and needs regarding reproductive decision-making. The interviews (n = 27) reveal that despite it being legally outside the explicit reasons for testing and termination of pregnancy, both women and professionals negotiate severity behind the scenes. Their interpretation of severity is highly context-dependent and relies on clinical, social and familial facets. Their perceptions of severity guide them in their handling of and decision-making around pregnancy management. Acknowledging the personal nature of severity assessment and providing professional or legal guidance which explicitly mentions foetal anomaly as a legitimate factor in pregnancy management could provide healthcare professionals and patients with the room needed to manage the pregnancy favourably.

Supporting patient decision-making in non-invasive prenatal testing: a comparative study of professional values and practices in England and France.

BACKGROUND: Non-invasive prenatal testing (NIPT), which can screen for aneuploidies such as trisomy 21, is being implemented in several public healthcare systems across Europe. Comprehensive communication and information have been highlighted in the literature as important elements in supporting women's reproductive decision-making and addressing relevant ethical concerns such as routinisation. Countries such as England and France are adopting broadly similar implementation models, offering NIPT for pregnancies with high aneuploidy probability. However, we do not have a deeper understanding of how professionals' counselling values and practices may differ between these contexts. METHODS: In this paper, we explore how professionals in England and France support patient decision-making in the provision of NIPT and critically compare professional practices and values. We draw on data from semi-structured interviews with healthcare professionals. RESULTS: Both English and French professionals emphasised values relating to patient choice and consent. However, understandings and application of these values into the practice of NIPT provision differed. English interviewees placed a stronger emphasis on interpreting and describing the process of counselling patients and clinical care through a "principle" lens. Their focus was on non-directiveness, standardisation, and the healthcare professional as "decision-facilitator" for patients. French interviewees described their approach through a "procedural" lens. Their focus was on formal consent, information, and the healthcare professional as "information-giver". Both English and French professionals indicated that insufficient resources were a key barrier in effectively translating their values into practice. CONCLUSION: Our findings illustrate that supporting patient choice in the provision of NIPT may be held as an important value in common on a surface level, but can be understood and translated into practice in different ways. Our findings can guide further research and beneficially inform practice and policy around NIPT provision.

Should non-invasive prenatal testing (NIPT) be used for fetal sex determination? Perspectives and experiences of healthcare professionals.

Non-invasive prenatal testing (NIPT) can not only accurately detect early in pregnancy the presence of chromosomal abnormalities but also fetal sex. However, whether fetal sex should be reported after performing NIPT is ethically contentious. In Belgium, NIPT is practically fully reimbursed and offered to all pregnant women as a first-tier screening. In practice, fetal sex is reported upon request of the expectant parents; however, this is not stipulated in guidelines. As more countries are offering NIPT and looking to implement it in public healthcare, challenges and insights of healthcare professionals working in Belgium can be of value for others. We assessed healthcare professionals' experiences with and perspectives on sex determination and reporting following NIPT in Belgium by conducting a semi-structured interview study. We interviewed 30 professionals involved in prenatal screening. While overall healthcare professionals did not consider reporting fetal sex to be an issue if the expectant parents want to know, some consider the reporting of a non-medical trait like fetal sex problematic when it is reimbursed or if it could lead to sex-selective termination of pregnancy. Moreover, the strong desire of expectant parents to know fetal sex risks compromising informed decision-making about NIPT. In this way, fetal sex may distract from the primary aim of NIPT as a test for medical conditions. Improving pre-test counseling both in terms of quality and availability may help overcome some of these issues.

'The tabloid test': a qualitative interview study on the function and purpose of termination of pregnancy review committees in Victoria, Australia.

BACKGROUND: Termination of pregnancy (TOP) is not an uncommon procedure. Availability varies greatly between jurisdictions; however, additional institutional processes beyond legislation can also impact care and service delivery. This study serves to examine the role institutional processes can play in the delivery of TOP services, in a jurisdiction where TOP is lawful at all gestations (Victoria, Australia). As per the Abortion Law Reform Act 2008, TOPs post-24 weeks require the approval of two medical practitioners. However, in Victoria, hospitals that offer post-24 week TOPs generally require these cases to additionally go before a termination review committee for assessment prior to the service being provided. These committees are not stipulated in legislation. Information about these committees and how they operate is scarce and there is minimal information available to the public. METHODS: To trace the history, function, and decision-making processes of these committees, we conducted a qualitative interview study. We interviewed 27 healthcare professionals involved with these committees. We used purposive sampling to gain perspectives from a range of professions across 10 hospitals. Interviews were transcribed verbatim, identifying details removed and inductive thematic analysis was performed. RESULTS: Here, we report the three main functions of the committees as described by participants. The functions were to protect: (1) outward appearances; (2) inward functionality; and/or, (3) service users. Function (1) could mean protecting the hospital's reputation, with the "Herald Sun test"-whether the TOP would be acceptable to readers of the Herald Sun, a tabloid newspaper-used as a heuristic. Function (2) related to logistics within the hospital and protecting the psychological wellbeing and personal reputation of healthcare professionals. The final function (3) related to ensuring patients received a high standard of care. CONCLUSIONS: The primary functions of these committees appear to be about protecting hospitals and clinicians within a context where these procedures are controversial and stigmatized. The results of this study provide further clarity on the processes involved in the provision of TOPs at later gestations from the perspectives of the healthcare professionals involved. Institutional processes beyond those required by legislation are put in place by hospitals. These findings highlight the additional challenges faced by patients and their providers when seeking TOP at later gestations.

Abortion can be difficult to access. In Victoria, Australia, under the law, abortion is allowed at any time during a pregnancy­although after you have been pregnant for more than 24 weeks, the approval of two doctors is required. However, hospitals in Victoria that offer late abortions require more than the approval of two doctors. Hospitals have put in place committees that review each case and make a decision about whether the hospital will provide the abortion. There is not a lot of information about these committees­we do not know exactly why they exist, what they are for, or how they work. To find out, we interviewed doctors and other healthcare professionals (like midwives) who were involved in these committees. In this paper, we report the reasons these people gave for why the committees exist and what they are for. There were three main reasons. The first purpose of the committee is so the hospital does not get criticised in newspapers or by other people outside the hospital for performing these late abortions. The second reason is to help and protect those inside the hospital. For example, having a committee means that the doctors do not have to make the decisions themselves. People also said that the committees think about how the staff are feeling. The third reason is so that the hospitals provide the best care they can, and that they can continue to provide late abortions in the future. With this study, we found out some more important information about these committees that we did not have before. What we found shows that it is not just the law that matters­other things can also affect whether you can get an abortion.

Storing paediatric genomic data for sequential interrogation across the lifespan.

Genomic sequencing (GS) is increasingly used in paediatric medicine to aid in screening, research and treatment. Some health systems are trialling GS as a first-line test in newborn screening programmes. Questions about what to do with genomic data after it has been generated are becoming more pertinent. While other research has outlined the ethical reasons for storing deidentified genomic data to be used in research, the ethical case for storing data for future clinical use has not been explicated. In this paper, we examine the ethical case for storing genomic data with the intention of using it as a lifetime health resource. In this model, genomic data would be stored with the intention of reanalysis at certain points through one's life. We argue this could benefit individuals and create an important public resource. However, several ethical challenges must first be met to achieve these benefits. We explore issues related to privacy, consent, justice and equality. We conclude by arguing that health systems should be moving towards futures that allow for the sequential interrogation of genomic data throughout the lifespan.

Regulating non-invasive prenatal testing (NIPT) for fetal sex determination.

Non-invasive prenatal testing (NIPT) can be used to determine the chromosomal sex of the fetus at an early stage in a pregnancy. The use of NIPT for fetal sex determination raises concerns about potential selective termination of pregnancy by prospective parents who desire a child of a particular sex. Although sex selection for medical reasons is generally accepted, non-medical sex selection (NMSS) has been the subject of considerable controversy. In this article, we explore the current regulatory landscape around reproductive genetic testing techniques that may lead to NMSS, both internationally and within Australia. Specifically, we contrast the approach to regulating preimplantation genetic testing (PGT) with the minimal regulation of NIPT in Australia as a case study for reform. We examine ethical concerns raised in relation to NMSS, which form the basis of the current moratorium on the use of PGT for NMSS. We then highlight some key differences between using PGT for NMSS and NIPT for fetal sex determination to determine whether access to the latter should be regulated and, if so, how. We conclude that there is insufficient evidence to restrict access to NIPT for fetal sex determination and, based on our Australian case study, recommend a facilitative approach to regulating NIPT that would support individuals to make informed reproductive decisions.

Non-invasive prenatal testing in Germany: a unique ethical and policy landscape.

Non-invasive prenatal testing (NIPT) has been available commercially in Europe since approximately 2012. Currently, many countries are in the process of integrating NIPT into their publicly funded healthcare systems to screen for chromosomal aneuploidies such as trisomy 21 (Down syndrome), with a variety of implementation models. In 2019, the German Federal Joint Committee (G-BA), which plays a significant role in overseeing healthcare decisions in Germany, recommended that NIPT be reimbursed through public insurance. Following this recommendation, NIPT will be offered on a case-by-case basis, when a pregnant woman, after being counselled, makes an informed decision that the test is necessary in her personal situation. This model differs significantly from many other European countries, where NIPT is being implemented either as a first-tier screening offer available for all pregnancies, or a contingent screen for those with a high probability of foetal aneuploidy (with varying probability cut-offs). In this paper we examine how this unique approach to implementing NIPT in Germany is produced by an ethical and policy landscape resulting from a distinctive cultural and historical context with a significant influence on healthcare decision-making. Due in part to the specific legal and regulatory environment, as well as strong objections from various stakeholders, Germany did not implement NIPT as a first-tier screen. However, as Germany does not currently publicly fund as standard other forms of prenatal aneuploidy screening (such as combined first trimester screening), neither can it be implemented as a screen contingent on specific probability cut-offs. We discuss how German policy reflects the echoes of the past shaping approaches to new biotechnologies, and the implications of this unique model for implementing NIPT in a public healthcare system.

Non-Invasive Prenatal Testing for "Non-Medical" Traits: Ensuring Consistency in Ethical Decision-Making.

The scope of noninvasive prenatal testing (NIPT) could expand in the future to include detailed analysis of the fetal genome. This will allow for the testing for virtually any trait with a genetic contribution, including "non-medical" traits. Here we discuss the potential use of NIPT for these traits. We outline a scenario which highlights possible inconsistencies with ethical decision-making. We then discuss the case against permitting these uses. The objections include practical problems; increasing inequities; increasing the burden of choice; negative impacts on the child, family, and society; and issues with implementation. We then outline the case for permitting the use of NIPT for these traits. These include arguments for reproductive liberty and autonomy; questioning the labeling of traits as "non-medical"; and the principle of procreative beneficence. This summary of the case for and against can serve as a basis for the development of a consistent and coherent ethical framework.

'Diagnostic shock': the impact of results from ultrarapid genomic sequencing of critically unwell children on aspects of family functioning.

Rapid genomic sequencing (rGS) is being increasingly used in neonatal and paediatric intensive care units. While there is emerging evidence of clinical utility and cost-effectiveness, concerns have been raised regarding the impact of delivering genomic results in an acute care setting. To help investigate these concerns, we analysed survey data collected from caregivers whose children had received rGS through a national rapid genomic diagnosis program. The impact of rGS on families was assessed through the PedsQL2.0 Family Impact Module and the State-Trait Anxiety Inventory (STAI-6). Sixty-one parents/carers completed the survey during the study period (response rate 48%; 61/128). Mean parent and family functioning was reduced in this sample, reflecting the stressful conditions facing families with critically unwell children. We found caregivers whose children had received a diagnostic result through rGS reported a reduced family relationships score compared to caregivers of children who did not receive a diagnosis. These findings have implications for genetic counselling practice in this setting.

Fetal information as shared information: using NIPT to test for adult-onset conditions.

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.

ORPHANS BY DESIGN: THE FUTURE OF GENETIC PARENTHOOD.

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

Sex selection and non-invasive prenatal testing: A review of current practices, evidence, and ethical issues.

Non-invasive prenatal testing (NIPT) can determine the sex of the fetus very accurately and very early in gestation. There are concerns that the ease, timing, and accuracy of NIPT sex determination will facilitate sex-selective termination of pregnancy (TOP). Here, we review current practices, the evidence for a link between NIPT and sex-selective TOP, and associated ethical issues. Sex-selective TOP, usually motivated by son preference, has had serious demographic consequences in countries such as India and China. Currently, ultrasound is the primary method by which parents determine the sex of the fetus. The diffusion of ultrasound technology has had a direct impact on the rates of sex-selective TOP. Although NIPT is currently more costly, it is feasible that increased uptake of this technology could have a similar effect. Partly because NIPT is a relatively recent development in prenatal screening, there is little data on the impact of NIPT on sex selection practices. Evidence that NIPT is playing a role in sex-selective TOP remains largely anecdotal. Further research is required to assess and quantify TOP resulting from NIPT sex determination. The use of these technologies for sex selection raises a number of ethical issues, in addition to practical demographic consequences.

The moral case for sign language education.

Here, a moral case is presented as to why sign languages such as Auslan should be made compulsory in general school curricula. Firstly, there are significant benefits that accrue to individuals from learning sign language. Secondly, sign language education is a matter of justice; the normalisation of sign language education and use would particularly benefit marginalised groups, such as those living with a communication disability. Finally, the integration of sign languages into the curricula would enable the flourishing of Deaf culture and go some way to resolving the tensions that have arisen from the promotion of oralist education facilitated by technologies such as cochlear implants. There are important reasons to further pursue policy proposals regarding the prioritisation of sign language in school curricula.

'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing.

BACKGROUND: Non-invasive prenatal testing (NIPT) has been available in Australia on a user-pays basis since 2012. Since its introduction, it has grown in popularity as a screening method for fetal aneuploidy and may become publicly funded. AIMS: To assess the motivations and experiences of women who have undergone NIPT in a user-pays system in Australia. MATERIALS AND METHODS: One thousand women who had undergone NIPT through the Victorian Clinical Genetics Services in Melbourne, Australia were contacted and asked to complete a mixed-methods survey. The number of eligible responses received was 235. Quantitative data analysis was performed in STATA IC 15.1, and qualitative data were examined using content analysis. RESULTS: Women reported generally positive experiences with NIPT and 95% of respondents indicated they would undergo NIPT in a future pregnancy. Most respondents received a low-risk result, with 2.2% receiving a high-risk result. Respondents viewed NIPT favourably compared to invasive testing and cited reassurance as a key reason they sought it. However, a small minority of women reported negative experiences with the testing process. Women were also supportive of NIPT becoming publicly funded, with 93% of respondents indicating support. Pre- and post-test counselling were identified as possible areas for improvement to ensure informed consent. CONCLUSION: In support of the existing literature, these results indicate that Australian women generally report positive experiences with NIPT. As NIPT becomes more common, with possible integration into public healthcare, further qualitative research would be valuable to examine the motivations and experiences of women undergoing NIPT.

Moral reasons to edit the human genome: picking up from the Nuffield report.

In July 2018, the Nuffield Council of Bioethics released its long-awaited report on heritable genome editing (HGE). The Nuffield report was notable for finding that HGE could be morally permissible, even in cases of human enhancement. In this paper, we summarise the findings of the Nuffield Council report, critically examine the guiding principles they endorse and suggest ways in which the guiding principles could be strengthened. While we support the approach taken by the Nuffield Council, we argue that detailed consideration of the moral implications of genome editing yields much stronger conclusions than they draw. Rather than being merely 'morally permissible', many instances of genome editing will be moral imperatives.

'Is it better not to know certain things?': views of women who have undergone non-invasive prenatal testing on its possible future applications.

Non-invasive prenatal testing (NIPT) is at the forefront of prenatal screening. Current uses for NIPT include fetal sex determination and screening for chromosomal disorders such as trisomy 21 (Down syndrome). However, NIPT may be expanded to many different future applications. There are a potential host of ethical concerns around the expanding use of NIPT, as examined by the recent Nuffield Council report on the topic. It is important to examine what NIPT might be used for before these possibilities become consumer reality. There is limited research exploring views of women on possible future uses of NIPT, particularly those of women who have undergone NIPT. In this study, we examined the views of women who undertook NIPT previously on the acceptability of and interest levels in using NIPT for a number of current and possible future applications. These included several medical conditions encompassing psychiatric, neurodevelopmental and adult-onset conditions as well as non-medical traits such as intelligence. One thousand women were invited to participate and 235 eligible surveys were received. Women generally reported an interest in using NIPT for medical conditions that severely impacted quality of life and with an onset earlier in life and stressed the importance of the accuracy of the test. Concerns were raised about the use of NIPT for non-medical traits. Respondents indicated that termination of pregnancy was not their only reason for testing, particularly in the case of sex. These results can further inform the ethical debate around the increasing integration of NIPT into healthcare systems.