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.

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.

Ethical issues associated with prenatal screening using non-invasive prenatal testing for sex chromosome aneuploidy.

Prenatal screening for sex chromosome aneuploidies (SCAs) is increasingly available through expanded non-invasive prenatal testing (NIPT). NIPT for SCAs raises complex ethical issues for clinical providers, prospective parents and future children. This paper discusses the ethical issues that arise around NIPT for SCAs and current guidelines and protocols for management. The first section outlines current practice and the limitations of NIPT for SCAs. It then outlines key guidelines before discussing the ethical issues raised by this use of NIPT. We conclude that while screening for SCAs should be made available for people seeking to use NIPT, its implementation requires careful consideration of what, when and how information is provided to users.

Judicial Discomfort over 'Innovative' Treatment for Adolescents with Gender Dysphoria.

Medical treatment for adolescents with gender dysphoria has attracted considerable attention in recent years, with continuing court involvement in Australia and recent judicial review proceedings in the UK. In Re Imogen [No 6], the Family Court of Australia held that an application to the Family Court is mandatory if a parent or a medical practitioner of an adolescent diagnosed with gender dysphoria disputes the diagnosis, the adolescent's capacity to consent, or the proposed treatment. In this article, we examine the Family Court's rationale for preserving its welfare jurisdiction in gender dysphoria cases. We analyse case law developments in Australia and more recently in the UK and identify a thread of judicial discomfort in gender dysphoria jurisprudence about adolescents consenting to medical treatment that the court perceives to be 'innovative', 'experimental', 'unique', or 'controversial'. We explore whether treatment for gender dysphoria can be characterised as 'innovative' and identify four factors that appear to be influencing courts in Australia and the UK. We also consider how such a characterisation might impact (if at all) on an adolescent's capacity to consent to gender dysphoria treatment. We critique the ongoing role of courts in these cases and recommend a robust decision-making framework for gender dysphoria treatment to minimise court involvement in the future.

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.

Re Imogen: the role of the Family Court of Australia in disputes over gender dysphoria treatment.

This article examines Re Imogen (No 6) (2020) 61 Fam LR 344, a decision of the Family Court of Australia, which held that an application to the Family Court is mandatory if a parent or a medical practitioner of a child or adolescent diagnosed with gender dysphoria disputes the diagnosis, the capacity to consent, or the proposed treatment. First, we explain the regulatory framework for the medical treatment of gender dysphoria in children and adolescents, including the development of the welfare jurisdiction under Section 67ZC of the Family Law Act 1975 (Cth). We then provide an overview of the Re Imogen decision, and discuss the balancing exercise involved in determining a child's best interests in the medical treatment context. We challenge the Family Court's conclusion that, in relation to a dispute about diagnosis or treatment, a finding that the child or adolescent is Gillick competent to consent to treatment is not determinative, and the Family Court must determine the dispute. We argue that this conclusion represents an unjustified incursion into the right of Gillick competent transgender children and adolescents to make decisions about their own bodies and identities, and that the protective role of parents and the Family Court cannot justify interfering with their bodily autonomy in this context. Finally, we propose an alternative regulatory framework that removes the Family Court from the medical treatment process for gender dysphoria in circumstances of dispute between a parent and their Gillick competent child.

The role of the Mental Health Tribunal in setting duration of compulsory treatment in Victoria.

This article explores the role of the Mental Health Tribunal (the Tribunal) in setting duration of compulsory treatment orders under the Mental Health Act 2014 (Vic) (the MH Act) using qualitative analysis of data obtained by a Tribunal working group. It explores the extent to which there is a difference between the duration of treatment orders requested by treating teams and those made by the Tribunal, as well as the factors the Tribunal takes into account in setting a different duration. Results reveal the Tribunal made a treatment order of different (mostly shorter) duration in one out of five hearings. In these cases, two out of four factors identified by the working group were dominant influences: (1) ensuring congruence with the principles of the MH Act; and (2) information presented by one or more participants at the hearing. There were also high levels of attendance from either the patient, their support person or their legal representative when the Tribunal made a treatment order of different duration. This suggests participation by patients and support people at hearings provides the Tribunal with the information it needs to consider the principles under the MH Act meaningfully when exercising its discretion to determine the duration of compulsory treatment orders.

The Discriminatory Legal Barrier of Partner Consent in Victorian ART Law: EHT18 v Melbourne IVF.

In September 2018, the Federal Court of Australia found that a Victorian woman did not need her estranged husband's consent to undergo in vitro fertilisation treatment (IVF) using donor sperm. The woman, who was 45 years of age, made an urgent application to the Court for permission to undergo IVF using donor sperm. In a single judge ruling, Griffiths J held that the requirement in the Assisted Reproductive Treatment Act 2008 (Vic) ('ART Act') for a married woman to obtain the consent of her husband discriminated against the woman in question on the basis of her marital status in contravention of the Commonwealth Sex Discrimination Act 1984 (Cth) ('SD Act'). His Honour declared the Victorian law in this instance 'invalid and inoperable' by operation of section 109 of the Commonwealth Constitution to the extent it was inconsistent with the Commonwealth law. Although the declarations by the Federal Court were limited in their terms to the circumstances of the case, the judgment raises broader issues about equity of access to assisted reproductive treatment (ART) in Victoria. The issue of partner consent as a barrier to access to ART was specifically raised by an independent review of the ART Act in Victoria. The Victorian Government released an interim report late last year as a first stage of the review, which canvasses some options for reform. This raises a broader question as to whether prescriptive legislation imposing detailed access requirements for ART is necessary or even helpful.

Legality of Embryonic Gene Editing in Australia.

The CRISPR-cas9 genome editing system (CRISPR) has been used to make precise and heritable changes to a diverse range of animals. The use of CRISPR to edit embryonic cells initially raised widespread criticism and calls for an international ban. However, the rapid development of genome editing has prompted governments around the world to review the regulatory frameworks that oversee genetic technologies. In Australia, the Prohibition of Human Cloning for Reproduction Act 2002 (Cth) and the Research Involving Human Embryos Act 2002 (Cth) expressly regulate the use of genome editing in early human embryos. This article analyses how these two Acts regulate research involving CRISPR and the implications of this for research practices in Australia. We argue that, given the current regulatory uncertainty around the legality of genome editing research in Australia, legislative reform is needed and propose reforms to provide greater clarity in this area.

Comparing Non-Medical Sex Selection and Saviour Sibling Selection in the Case of JS and LS v Patient Review Panel: Beyond the Welfare of the Child?

The national ethical guidelines relevant to assisted reproductive technology (ART) have recently been reviewed by the National Health and Medical Research Council (NHMRC). The review process paid particular attention to the issue of non-medical sex selection, although ultimately, the updated ethical guidelines maintain the pre-consultation position of a prohibition on non-medical sex selection. Whilst this recent review process provided a public forum for debate and discussion of this ethically contentious issue, the Victorian case of JS and LS v Patient Review Panel (Health and Privacy) [2011] VCAT 856 provides a rare instance where the prohibition on non-medical sex selection has been explored by a court or tribunal in Australia. This paper analyses the reasoning in that decision, focusing specifically on how the Victorian Civil and Administrative Tribunal applied the statutory framework relevant to ART and its comparison to other uses of embryo selection technologies. The Tribunal relied heavily upon the welfare-of-the-child principle under the Assisted Reproductive Treatment Act 2008 (Vic). The Tribunal also compared non-medical sex selection with saviour sibling selection (that is, where a child is purposely conceived as a matched tissue donor for an existing child of the family). Our analysis leads us to conclude that the Tribunal's reasoning fails to adequately justify the denial of the applicants' request to utilize ART services to select the sex of their prospective child.

Response to 'A relational approach to Saviour Siblings?' by Selgelid.

In his concise argument, 'A relational approach to saviour siblings?', Selgelid reiterates some of the arguments raised in the author meets critics discussion of my book, Saviour Siblings In this response, I highlight an important misunderstanding in one of the arguments put forward by Selgelid, which forms the basis of a large portion of his analysis. Contrary to what Selgelid contends, I do not use the deafness case in my discussion of the non-identity problem to contend that the case of selecting for deafness is ethically different from the case of saviour siblings. As I state in my reply, I use the case of deafness not as a comparator for saviour siblings but rather to illustrate the different categories of risk that apply in selection cases Given this confusion, I restate my objection to relying on the non-identity problem in evaluating risk of harm associated with the embryo biopsy process for preimplantation genetic diagnosis. Finally, I reiterate that the individual interests of saviour siblings remain important in the decision-making matrix and emphasise that Saviour Siblings offers a more contextualised approach to the welfare of the child in selective reproduction, which includes both individual and collective interests.

Saviour siblings and collective family interests.

In this article, I will explore the ethical concerns arising out of the use of preimplantation tissue typing (PTT) to create saviour siblings. There are two main ethical concerns about the welfare of the child to be born as a result of PTT. The first is whether the child to be born is treated as a commodity, as simply a means to save the life of his or her sibling. The second is whether the child to be born will be harmed as a result of PTT, either physically, psychologically or socially. These two ethical concerns reflect an individualistic approach to the welfare of the child, whose interests are treated as largely separate to the interests of other family members. I will argue that the welfare of the child born as a result of PTT should be conceived more broadly to include not only the child's individual interests, but also the collective interests the child shares with his or her family. I base this broader conception of welfare on the notion of human flourishing, which recognises that the welfare of a child is inextricably connected to the welfare of the intimate collective that is his or her family. The collective interests of intimate family members are particularly relevant in the context of PTT, as the members are engaged in a shared journey to save the life of an ill child.

Selecting "saviour siblings": reconsidering the regulation in Australia of pre-implantation genetic diagnosis in conjunction with tissue typing.

In recent years, pre-implantation genetic diagnosis (PGD) has been developed to enable the selection of a tissue type matched "saviour sibling" for a sick child. This article examines the current regulatory framework governing PGD in Australia. The availability of PGD in Australia to create a saviour sibling depends on the regulation of ART services by each State and Territory. The limitations on the use of PGD vary throughout Australia, according to the level of regulation of ART in each jurisdiction. This article considers the limitations on the use of PGD for tissue typing in Australia and argues that some of these should be removed for a more consistent national approach. In particular, the focus in ART legislation on the "paramount interests" of the child to be born is inappropriate for the application of tissue typing, which necessarily involves the interests of other family members.