Women's health

Identifying inequity of access and assessing the effectiveness of interventions is difficult without systematic abortion data collection

Caroline M Costa · Kirsten I Black

Rectal bleeding is common in pregnancy, with a reported prevalence of 10–43%

Ralley Prentice · Aysha Al‐Ani · Tiffany Cherry · Julia Dixon‐Douglas · Jade Eccles‐Smith · Julia Matheson · Jeanne Tie · Iniyaval Thevathasan · Jacob J McCormick · Britt Christensen

Women with non-ST-elevation acute coronary syndromes remain understudied and undertreated

Carlo Andrea Pivato · Birgit Vogel · Roxana Mehran

Adherence to guideline-based therapy for people with NSTEACS could be improved in Australia

Bianca C Bachelet · Karice Hyun · Mario D'Souza · Clara K Chow · Julie Redfern · David B Brieger

Clinical breast examination can safely be omitted from breast cancer screening of women with BRCA1/2 mutations

Tamara Hettipathirana · Courtney Macdonald · Jing Xie · Kate Moodie · Chris Michael · Kelly‐Anne Phillips

A 31-year-old Caucasian woman presented to the emergency department with a 1-day history of vomiting and lethargy, but no other symptoms

Nardeen S Habashy · Hwang Tan · Emily J Hibbert

The surgical abortion rate has declined 5.1% per year since the PBS listing of mifepristone/misoprostol

Louise A Keogh · Lyle C Gurrin · Patricia Moore

The age-specific impact of risk factors on breast cancer detection could inform discussions of risk-stratified screening

Naomi Noguchi · Michael L Marinovich · Elizabeth J Wylie · Helen G Lund · Nehmat Houssami

Laws requiring doctors to report consensual adolescent sexual activity present legal, clinical and ethical problems Many Australian teenagers engage in consensual sexual intercourse with similar aged peers.1 They require confidential medical care, including contraception and sexually transmitted infection testing. However, adolescents’ rights to access medical care may confront legal barriers. In several Australian states and territories, new criminal laws require adults to report sexual offences against children. Other criminal laws make it an offence for adolescents aged under 16 years to engage in sexual intercourse. Accordingly, a question for clinical practice is whether the new criminal law reporting duty applies to adolescents’ confidential communications regarding consensual sexual activity. Law, ethics and practice must protect children, but must not criminalise consensual peer sexual activity or compromise clinical care. Here, we review literature regarding adolescents’ lived experience, findings from developmental science, and analyses of consensual and lawful sexual activity. We conduct a comparative analysis of Australian criminal law reporting duties for child sexual offences. We identify situations where laws inappropriately require clinicians to report adolescent sexual activity, and we make recommendations for reform. Background A 2018 national survey found 47% of 14–18‐year‐olds engaged in vaginal or anal intercourse, including 34% of those in Year 10.1 For most Year 10s (aged 14–16 years), the most recent sexual partner was a peer aged under 17 years (92%). However, 6.5% of sexually active Year 10s reported their most recent partner was aged 18–19 years. Of Year 10 females, over one‐third (37%) had engaged in intercourse, and for 10% of these their most recent partner was aged 18 years or older. General practitioners were the most trusted source of sexual health information, from whom 40.6% of females sought clinical advice.1 Clinician engagement was further evidenced by 43.5% of females using the contraceptive pill. However, adolescents experience multiple barriers in accessing health services, including perceived lack of confidentiality, and youth friendly service guidelines recommend confidential care approaches.2,3,4 The Lancet commission on adolescent health acknowledged the complex interplay of adolescent neurodevelopment and legal principles of capacity.5 Australian legal milestones differ, indicating how laws attempt to attain policy goals while grappling with scientific knowledge: 10‐year‐olds can be liable for criminal offences; 15‐year‐olds can obtain a Medicare card; and 17‐year‐olds can drive. Developmental neuroscience has shown adolescents aged 15–16 years possess adult‐like cognitive ability,8,9 while psychosocial and neurobiological maturity continues into the mid‐20s.8 It has been shown that, especially when in “calm and emotionally‐neutral contexts”,5 adolescents possess cognitive capacity to weigh costs and benefits and make reasoned judgements about courses of action, including about consenting to medical treatments involving contraception and sexual health.6,7 Much consensual peer sexual activity occurs in such settings; even in more emotionally “hot” circumstances, the capacity to consent to sex with similar aged peers is consistent with findings from developmental neuroscience. Legal requirements for consent, and the age of consent Lawful consent to sex requires full, free and voluntary agreement, and the absence of threat, intimidation and abuse of power (Box 1). Social science models of child sexual abuse are similarly premised on consent requiring full, free, voluntary and uncoerced participation.10 Laws must navigate a tension between protecting the developing adolescent and respecting and promoting their capacity and autonomy.11,12 In this setting, legislatures, as the bodies in each state and territory able to pass and amend criminal laws (legislation), must protect children and youth from sexual abuse, while allowing consensual peer sexual activity in both heterosexual and same‐sex relationships. Currently, the legal age of consent prohibits intercourse with minors under a specified age, presuming that children under this age lack capacity to provide true consent. This age is 16 years in most jurisdictions (Box 2). Legal defences embody legislatures’ acknowledgement that sex between adolescents may be consensual and permissible. Criminal laws in five jurisdictions provide a close‐in‐age defence to offences where the act involves consenting people who are both minors aged under 16 years or are similar in age (Box 2). Prosecution guidelines Similarly, official guidelines in every jurisdiction13,14 regarding prosecution of criminal offences recommend against prosecuting consensual activity between minors. These guidelines acknowledge it is against the public interest to prosecute these cases, because of the oppressive consequences, and the trivial and merely technical nature of any breach. Victoria’s guidelines are particularly strong, and specifically refer to situations where both adolescents are under 16 years of age, and where they are aged 15 and 18 years: a prosecution is contraindicated where a young person “has committed an offence in the context of a consenting sexual relationship with another young person [including] sexual penetration of a child under 16 where the offender is 18 and the complainant is 15”.13 In such cases, prosecutors should consider: the adolescents’ ages and maturity; whether they are in a relationship; whether they consented; and whether the person wishes a prosecution to proceed.13 In our hypothetical clinical case of Anna and David (Box 3), a prosecutor should conclude that despite technical commission of an offence (due to Anna and David being 15 and 18, respectively), prosecution should not occur because they are mature, near aged peers in a consenting sexual relationship with no coercion. They were responsibly acting to obtain contraception and advice from a medical practitioner, and Anna would not want David prosecuted. Prosecution is against the public interest for reasons including adverse effects on adolescents’ willingness to seek medical advice, which may result in further consequences including unintended pregnancies, sexually transmitted infections, and effects on education, employability and health. Criminal law reporting duties Child protection legislation has long required professionals to report sexual abuse to child welfare agencies.15 Recent inquiries into institutional abuse and cover‐ups catalysed recommendations for new reporting duties in criminal law, applied to all adults.16,17 Victoria, New South Wales, the Australian Capital Territory and Tasmania have since enacted new reporting duties in criminal law, advancing social norms to protect children.15 Queensland has recently enacted a duty, which has not yet commenced. (Supporting Information, Table 1). These laws require adults to report information to police about a sexual offence committed against a child. To accommodate exceptional circumstances and navigate ethical tensions, exceptions apply to requests of non‐disclosure, and confidential disclosures (Supporting Information, Table 1). Comparative analysis: six dimensions of legal inconsistency and uncertainty The relevant laws differ between jurisdictions, and exceptions are of uncertain application. Comparative statutory analysis reveals that for medical practitioners treating adolescents in consensual peer relationships, the laws present six problems. First, only NSW expressly excludes medical practitioners from the duty to report sexual offences against children (Supporting Information, Table 1). This creates a clear inconsistency: NSW practitioners are exempt from the duty, while their counterparts elsewhere are not. However, exempting NSW practitioners may mean sexual offences are less likely to be reported. Second, three jurisdictions apply the duty to report sexual offences both to situations involving two minors aged under 16 and to situations involving a minor and an adult. In contrast, Victoria only applies the duty to situations involving a minor and an adult. Accordingly, Victoria’s duty is narrower, acknowledging that otherwise it may inappropriately embrace consensual behaviour; yet it is important not to discourage Victorian practitioners from reporting non‐consensual sexual offences between minors, so this limit may be suboptimal. The problem elsewhere is that the duty may capture consensual peer activity. Third, only Victoria excludes the duty where the adolescent “victim” aged 16 or 17 requests non‐disclosure. Elsewhere, this exemption applies only to requests by victims aged 18 or over. This creates inequality in recognising adolescent capacity and autonomy. Fourth, the concept of a “reasonable excuse” for non‐reporting is not exhaustively defined (Supporting Information, Table 1). It is unclear whether a reasonable excuse for non‐disclosure includes a medical practitioner’s choice not to report a confidential disclosure in a therapeutic setting of consensual acts constituting a sexual offence. This leaves practitioners in all jurisdictions unsure whether they would be legally protected for not reporting. Fifth, Victoria, NSW and Tasmania enable prosecution only if approved by the Director of Public Prosecutions. This suggests multiple situations do not warrant prosecution. However, it is not clear when approval would be given, leaving clinicians in doubt about exemptions to the duty. The ACT lacks this mechanism, indicating higher likelihood of prosecution. Sixth, health professionals may be exempt from the duty where a patient confidentially discloses a sexual offence (Supporting Information, Table 1). This exemption is founded on the concept of professional confidential relationship privilege. However, these exemptions are unclear, rely on networks of laws, and apply to different practitioners. Tasmania and the ACT lack clear confidentiality exceptions (Supporting Information, Table 2). NSW has a clear exemption. Victoria has an express exemption if the information is a “confidential communication” as defined by other legislation (Box 4). However, in Victoria, the exemption applies only to communications from the younger adolescent (Box 4). In Anna’s hypothetical case, David attending the consultation would technically trigger the GP’s duty to report (Box 3). Discussion The new duties in criminal law to report sexual offences against children are consistent with policy values in protecting children, and with bioethical principles of justice and beneficence. Requiring adults to report child sexual offences is justified by diminishing harm to individuals, and by enhancing community protection and a protective social fabric for vulnerable children.18 Sexual activity between adults and children should generally be considered abusive, due to absence of consent and presence of coercion.10 However, legislatures must ensure an appropriate balance between protecting children and youth from sexual offences, and recognising their capacity and promoting autonomy, privacy and freedom of expression.11,12 Genuinely consensual sexual activity between under‐aged minors is not abusive.10 In addition, a grey zone of cases may involve two adolescents aged almost 16, and 18. Here, where sexual activity may be genuinely consensual, ethical analysis, findings from developmental science, and clinical needs all suggest the duty should be moderated by nuanced individual consideration by clinicians (Box 3). In our view, the central concept that should inform legal principles and practice is consent, and its presence or absence in circumstances which do not involve threat, intimidation or abuse of authority. On our analysis, three conclusions seem clear. First, legislative reforms are required so that disclosures in therapeutic contexts of clearly consensual sexual activity between similar aged peers under 16 are expressly exempt from the reporting duty. This is consistent with policy animating Victoria’s law reform requiring adults to report “a serious indictable offence involving the abuse of a child”,16 and Royal Commission recommendations.17 If protected by such an exemption, clinicians consulting with adolescents who are having sex with similar aged peers can be unhindered in providing preventive health interventions including contraception for mature minors, and screening for sexually transmitted infections.18 Clinicians routinely enquire about age of sexual partners and otherwise consider risk of abuse and patient capacity when providing treatment.7 If they reasonably conclude the adolescents are consenting, confidential treatment should be provided and this is clearly incompatible with reporting to police. Such an exemption also allows clinicians to create a safe environment to encourage adolescent help‐seeking, check for other health risks,19 explore family dynamics, and connect the adolescent with parents or others to benefit wellbeing.18,19 Second, this legislative exemption could extend to clearly consensual activity between adolescents aged 15 and 18. Legal attribution of capacity to consent to sex using simple age cut‐offs is convenient, but sometimes incongruent with developmental science, lived experience and clinical scenarios.9 In situations of clearly consensual activity, a margin of error should favour patient autonomy and clinical care. This is consistent with prosecutorial guidelines and Tasmania’s similar age exemptions. Clinicians would prefer this slight extension of the exemption so they can promote health and encourage future help‐seeking. Our hypothetical patients Anna and David would be unwilling to seek future care if the GP reported David to police. Third, the different models for exempting clinicians as recipients of confidential information are complex, uncertain and unsatisfactory. Legislative reforms are required to create a clear, unified approach. Any legislature that seeks to include an exemption for confidential disclosures about abusive incidents made to medical practitioners within therapeutic contexts should enact a specific exemption, using the NSW model. This would solve difficulties ascertaining whether this constitutes a “confidential communication” or is protected by privilege. It would also solve problems in the requested non‐disclosure exemptions; for abusive incidents, application only to those over 18 is inconsistent with developmental science, which suggests Victoria’s age 16 is justifiable, and could be extended to those aged 15. This three‐pronged approach aligns with clinicians’ duty of confidentiality in codes of ethics,20 and organisational policy on sexual and reproductive health.21 National principles recognise medical practitioners’ central role in supporting sexual and reproductive health through confidential care, with youth a priority population.18,21 This medico‐legal context is increasingly complex. Our analysis has focused on adolescent peers in genuinely consensual relationships whose ages mean technically they are committing an offence, exemplified by peers aged 15 and 18 years (Box 1). We unequivocally support duties to report child sexual abuse,15,22 and do not here consider other situations where different outcomes may transpire. We also caution that where disclosures of abusive incidents may be exempt from the criminal duty, a clinician may have a separate overriding legal duty to report. For example, Victorian doctors may be exempt under s 327(7)(c) of the Crimes Act 1958 from disclosing a 10‐year‐old’s confidential disclosure of sexual assault, but must report under child protection legislation.15 Health practitioners therefore need to know their responsibilities under different laws, and need ongoing professional education to promote legal literacy. Progress towards reform may require several steps. Since legislative limitations differ, agencies representing medical practitioners could urge reform at state and territory level, informed by research and clinical experience. However, ideally, a harmonised national approach should be adopted. National medical regulatory bodies and government ministries could mobilise to support a single model law that balances the need to protect Australian children from sexual offences, while promoting adolescents’ rights to consensual sexual activity. Box 1 – Requirements of consent to sexual intercourse, by Australian states and territories Conditions for consent to sexual intercourse Jurisdiction Free and voluntary agreement Not by threat, intimidation, or abuse of authority Australian Capital Territory Crimes Act 1900, s 67 (not expressly defined) s 67(1): consent to sexual intercourse with another person is negated if that consent is caused: “(a) by the infliction of violence or force on the person, or on a third person …; or (b) by a threat to inflict violence or force on the person, or on a third person …; or (c) by a threat to inflict violence or force on, or to use extortion against, the person or another person; or (d) by a threat to publicly humiliate or disgrace, or to physically or mentally harass, the person or another person; or … (h) by the abuse by the other person of his or her position of authority over … the person” New South Wales Crimes Act 1900, s 61HE(2): “A person ‘consents’ to a sexual activity if the person freely and voluntarily agrees to the sexual activity” s 61HE(5)(c): A person does not consent to a sexual activity if the person consents “because of threats of force or terror (whether the threats are against, or the terror is instilled in, that person or any other person)” s 61HE(8): “The grounds on which it may be established that a person does not consent include … (b) if the person consents to the sexual activity because of intimidatory or coercive conduct, or other threat, that does not involve a threat of force, or (c) if the person consents to the sexual activity because of the abuse of a position of authority or trust” Northern Territory Criminal Code Act 1983, s 192(1): “consent means free and voluntary agreement” s 192(2): “Circumstances in which a person does not consent to sexual intercourse … include circumstances where: (a) the person submits because of force, fear of force, or fear of harm of any type, to himself or herself or another person” Queensland Criminal Code 1899, s 348(1): “consent means consent freely and voluntarily given by a person with the cognitive capacity to give the consent” s 348(2): “consent to an act is not freely and voluntarily given if it is obtained—(a) by force; or (b) by threat or intimidation; or (c) by fear of bodily harm; or (d) by exercise of authority …” South Australia Criminal Law Consolidation Act 1935, s 46(2): “a person consents to sexual activity if the person freely and voluntarily agrees to the sexual activity” s 46(3): a person does not freely and voluntarily agree to sexual activity if “(a) the person agrees because of (i) the application of force or an express or implied threat of the application of force or a fear of the application of force to the person or to some other person; or (ii) an express or implied threat to degrade, humiliate, disgrace or harass the person or some other person” Tasmania Criminal Code 1924, s 2A(1): “‘consent’ means free agreement” s 2A(2):”a person does not freely agree to an act if the person … (b) agrees or submits because of force, or a reasonable fear of force, to him or her or to another person; or (c) agrees or submits because of a threat of any kind against him or her or against another person; or … (e) agrees or submits because he or she is overborne by the nature or position of another person” Victoria Crimes Act 1958, s 36(1): “consent means free agreement” s 36(2): ”Circumstances in which a person does not consent to an act include, but are not limited to, the following—(a) the person submits to the act because of force or the fear of force, whether to that person or someone else; (b) the person submits to the act because of the fear of harm of any type, whether to that person or someone else” Western Australia Criminal Code Compilation Act 1913, s 319(2)(a): “consent means a consent freely and voluntarily given” s 319(2)(a): “a consent is not freely and voluntarily given if it is obtained by force, threat, intimidation, deceit, or any fraudulent means” Box 2 – Close‐in‐age defence for sex with a minor under the legal age of consent, where intercourse is consensual Jurisdiction Legislation Age of consent Express defence for intercourse with someone under the legal age of consent if similar in age, and consent is provided Australian Capital Territory Crimes Act 1900, s 55(2) 16 Yes — if accused was not more than 2 years older than the child, and the child was aged 10 or over: s 55(3)(b) New South Wales Crimes Act 1900, s 66C(3) 16 Yes — if accused was not more than 2 years older than the child, and the child was aged 14 or 15: s 80AG Northern Territory Criminal Code Act 1983, s 127(1) 16 No Queensland Criminal Code Act 1899, s 215(1) 16 No South Australia Criminal Law Consolidation Act 1935, s 49(3) 17 Yes — if accused was under 17, and child was 16: ss 49(4)(a) and (4)(b)(i) Tasmania Criminal Code Act 1924, s 124 17 Yes — age gap not more than 5 years, if child was aged at least 15: s 124(3)(a); and age gap not more than 3 years, if child was aged at least 12: s 124(3)(b) Victoria Crimes Act 1958, s 49B 16 Yes — if accused was not more than 2 years older than the child, and the child was aged 12 or over: s 49V Western Australia Criminal Code Act 1913, s 321(2) 16 No Box 3 – Hypothetical clinical case study Anna is 15 years of age and in Year 10 at a co‐educational high school in Victoria. She has been getting good grades and has a part‐time job at a supermarket. David is 18 years of age, in Year 12 at Anna’s school, and works at the same supermarket. They have been dating for 3 months. Anna presents to her general practitioner for contraceptive advice. She has become sexually active with David and wants contraception additional to condoms. Her GP confirms Anna is a mature minor, since she understands fully the range of contraceptive options open to her, how they work, and their side effects. She has carefully considered all options with David, and has chosen a long‐acting reversible contraceptive implant. She intends to inform her mother, but she is not quite ready yet. She is certain she does not want to experience an unintentional pregnancy. Anna describes her relationship with David as very positive. She feels completely safe with him and under no coercion. She feels she could stop the relationship at any time if she wanted to, and so could he. The age of consent for sexual intercourse in Victoria is 16. Where sex involves a minor aged 12–15, no offence is committed if the other person is less than 2 years older than the minor, and the sex is consensual. Technically, David is committing a sexual offence by having sex with Anna, because he is 3 years older than her; if he was 17 there would be no offence. However, the GP is satisfied this relationship is consensual, and previously would not have reported this situation under either criminal law or child protection law. However, the criminal law on failure to disclose that commenced in Victoria in 2014 has now presented a dilemma for the GP. These laws aim to protect children from sexual abuse and require adults to report knowledge of a sexual offence with a child under 16 years to police. Anna has not expressly stated to the GP that she does not want the situation reported to police, since it has not occurred to her that anything wrong has happened. The GP studies the government website on the new laws to understand what she should do. She is relieved to learn health practitioners are exempt from the criminal law duty to report if they are told about the offence in the course of a confidential consultation. However, because of other legal definitions (Box 4), this exemption only applies if consulting exclusively with the person against whom the offence has been committed. The next day, Anna and David consult the GP together for a baseline sexually transmitted infection screen. The GP was happy to see them, but was perplexed that the exemption did not apply if consulting with the offender, in this case David. She was very reluctant to call the police about David and Anna, due to her knowledge about the consensual nature of their relationship, and their responsible behaviour in obtaining contraception. The GP also understands that other adults who know about the situation, such as Anna’s and David’s parents and school teachers, would appear to be required to report by the criminal law duty, since no clear exemptions apply to them. Box 4 – Health Practitioner Regulation National Law: definitions and application In Victoria, a “confidential communication” is “a communication, whether oral or written, made in confidence by a person against whom a sexual offence has been, or is alleged to have been committed to a registered medical practitioner or counsellor in the course of the relationship of medical practitioner and patient or counsellor and client”: Evidence (Miscellaneous Provisions) Act 1958, s 32B. Under the Health Practitioner Regulation National Law Act 2009 (Qld) Schedule s 5, “health practitioner means an individual who practises a health profession”. A “registered health practitioner means an individual who (a) is registered under this Law to practise a health profession, other than as a student; or (b) holds non‐practising registration under this Law in a health profession”. A “health profession” is defined to include a list of 15 professions (including recognised specialties in these), and most relevantly here includes the following professions: medical, nursing, pharmacy, and psychology. In Victoria, a “registered medical practitioner” under the Health Practitioner Regulation National Law is defined through the application of the Health Practitioner Regulation National Law Act 2009 (Qld) Schedule s 5. Victoria incorporated the Queensland Act into Victorian law, through the Health Practitioner Regulation National Law (Victoria) Act 2009, s 4 (Application of Health Practitioner Regulation National Law). The Health Practitioner Regulation National Law is also incorporated into other jurisdictions’ laws: Health Practitioner Regulation National Law (Tasmania) Act 2010, s 4; Health Practitioner Regulation (Adoption of National Law) Act 2009 (NSW), s 4; Health Practitioner Regulation National Law (ACT) Act 2010, s 6.

Ben Mathews · Lena A Sanci

Objectives: To evaluate the implementation and acceptability of the self‐collection cervical screening pathway since commencement of the renewed National Cervical Screening Program (rNCSP), from the perspectives of screening participants and primary care practitioners. Design, setting, participants: Qualitative study; individual semi‐structured interviews with 45 screening participants and 18 primary care practitioners in Victoria who had engaged with the self‐collection pathway during the first 17 months of the rNCSP (1 December 2017 ‒ 30 April 2019). Results: The self‐collection pathway was highly acceptable as an alternative cervical screening pathway for most participating screening participants and practitioners. Some screening participants indicated that they would not have been screened had the pathway not been available. Acceptability was lower among those who had tested positive for HPV types not 16/18, a result that requires additional testing of a clinician‐collected cervical sample. Use of the self‐collection pathway is driven more by practitioners than their patients. Interpretations of the self‐collection guidelines varied between practices. Barriers to expanding promotion of the pathway by practitioners included difficulties with identifying eligible participants. Conclusions: Increasing the accessibility of the self‐collection pathway to under‐ and never screened women could reduce inequities in cervical cancer outcomes for those not participating in the main screening pathway. Practitioners should be provided resources to integrate self‐collection into routine practice and to efficiently implement the entire self‐collection pathway, in order to maximise its use and to optimise the experience for screening participants.

Nicola S Creagh · Claire Zammit · Julia ML Brotherton · Marion Saville · Tracey McDermott · Claire Nightingale · Margaret Kelaher

To the Editor: Modelling commissioned by the federal government estimates that the fertility rate in Australia will drop to an all‐time low of 1.59 babies per woman in 2020–21.1 However, anecdotal observation suggests this projection does not reflect the apparent increase in current bookings for antenatal appointments in our (public) practice. Therefore, we reviewed the use of the five Medicare Benefits Schedule (MBS) item numbers for “microbiological serology during a pregnancy” (ie, 69405, 69408, 69411, 69413 and 69415), as one of these numbers is usually billed at the first antenatal visit. In June 2020, the use of these item numbers increased by 25.4% and later declined to a 9.6% increase in September 2020 compared with September 2019 (Box).2 In the period from 2018 up to the start of the coronavirus disease 2019 (COVID‐19) pandemic, the mean fluctuation in billing volume in the same months over different years was about 3% less or more.2 Therefore, the larger than expected surge in antenatal serology orders since the start of the COVID‐19 pandemic likely represents a significant change in behaviour. Furthermore, this increase in serology testing is on the background of an approximate 3% decline in services for pathology tests not related to COVID‐19 from June to September 2020 compared with the same period in 2019.2 Using MBS item numbers as a surrogate for pregnancy‐related appointment bookings has limitations. In general, women accessing public hospital care may have serology tests done as part of state government funding schemes whereby no MBS item is generated. We cannot exclude the possibility that, in the context of changes related to the COVID‐19 pandemic and a move to telehealth, a higher proportion of women may have had pathology tests done via Medicare. However, it would be expected that if fertility were declining, there would have been a reduction in testing. Furthermore, we were unable to exclude repeat testing, although our experience indicates this would account for an insignificant number of tests. This historical trend, and its context in the timing of an apparent “baby boom” (ie, antenatal serology testing is usually done at around 6–10 weeks’ pregnancy), correlates with an increase in conception starting in late March to early April 2020, during the so‐called first wave of COVID‐19 in Australia. Requests for antenatal serology testing increased by 12 869 from June to September 2020 compared with the same period in 2019 (Box). Factoring in miscarriages, this may mean there will be an additional 11 000 Australian babies born in the third quarter of the financial year 2020–21 compared with the same period in the previous financial year. We believe it is unlikely that fertility rates will drop in 2020–21. Box – Combined Medicare Benefits Schedule (MBS) services for item numbers 69405, 69408, 69411, 69413 and 69415 Month Number of MBS services Variation 2019 2020 June 21 883 27 441 +25.4% July 23 867 26 935 +12.9% August 25 118 27 055 +7.7% September 23 929 26 235 +9.6% Total 94 797 107 666 +13.6%

Len Moaven · James Brown

To the Editor: We read with interest the analysis and comments by Shand and colleagues.1 The authors show a rise in the dispensing of intravenous iron agents in the period from 2013 to 2017 for women. They suggest that this may be an issue relating to the inappropriate use of this agent. However, we question whether the data can support this suggestion, and feel this should be viewed cautiously because of the study limitations. The study did not examine the reasons for the escalation in prescriptions. The rise in numbers is not surprising. Iron deficiency anaemia is common and undertreated.2 While dietary modifications and oral iron are the first line treatment, oral iron is limited by the high occurrence of side effects in up to 50% of users.3 The new intravenous agents allow a full treatment in one visit — often in primary care — which is safe and effective. The authors are rightly concerned about safety; however, it is reassuring that studies have demonstrated the relative safety of these agents.4 During the study period, ferric carboxymaltose became more widely available, with its listing on the Pharmaceutical Benefits Scheme easing a financial barrier to women who need treatment. A number of education programs and various patient blood management initiatives to detect and treat iron deficiency that occurred during the study period could influence the study findings. A noteworthy activity was the landmark Patient Blood Management Collaborative facilitated by the Australian Commission on Safety and Quality in Health Care.5 The assumption by the authors that the number of women receiving treatment is equivalent to the number of dispensing claims by pharmacy is likely incorrect, as there are situations when an individual can have multiple dispensing claims. The study is timely because it highlights a serious condition affecting a large proportion of Australian women that must be better managed. Despite the various endeavours to improve access to treatment for women, iron deficiency remains undertreated and under‐recognised.

Pradeep Jayasuriya · Toby Richards · Bernd Froessler

Difficulty in achieving proper informed consent for a complex screening test and the varying phenotypic outcomes leaves pregnant women in a precarious situation when results are abnormal The combined first trimester screening test for Down syndrome, involving a nuchal translucency scan and biochemistry at 11–13 weeks, improved detection rates to 90% when compared with the sensitivity of screening by age‐related a priori risk of around 30% for a false positive rate of 5%.1 The advent of non‐invasive prenatal testing (NIPT) in 2010 as a screening test for the common trisomies was revolutionary, with sensitivity, specificity and detection rates unmatched by the combined first trimester screening programs. NIPT was found to achieve a detection rate for Down syndrome of 99.7%, with a false positive rate of 0.04%.2 However, some NIPT providers now additionally offer extended panels and low resolution whole genome sequencing (WGS) including sex chromosome aneuploidies, rare autosomal aneuploidies, and subchromosomal deletions, duplications and recurrent microdeletions. This comes at a cost of a higher false positive rate and lower positive predictive value.3 Moreover, the expanded panels and WGS NIPT raise issues of clinical utility and ethical concerns.4,5 Clinical utility Screening not diagnosis NIPT is based on the detection of cell‐free fetal DNA in the maternal circulation. The placental origin of cell‐free fetal DNA means that NIPT can only be a screening test and is not diagnostic.6 NIPT findings can be confounded by confined placental mosaicism, cell‐free fetal DNA from a demised co‐twin placenta, maternal chromosomal changes or malignancy.6,7 Moreover, a NIPT result will be issued even if the fetus is demised. The current NIPT tests available are for specific chromosomal aneuploidy, extended panels of targeted conditions and low resolution WGS. Targeted and low resolution WGS NIPT Targeted NIPTs (Box 1) interrogate specific chromosomes: standard (usually 13, 18, 21, X and Y) or extended (specific recurrent microdeletions associated with known syndromes, such as 22q11.2 microdeletion [DiGeorge syndrome]).8 Many abnormalities that can be detected by targeted NIPT have varying clinical outcomes (eg, sex chromosome abnormalities and DiGeorge syndrome). Each of these conditions has varying sensitivity, specificity and positive predictive value. Other NIPTs interrogate every chromosome (by low resolution WGS). These tests can potentially screen for aneuploidy of every chromosome (all 22 autosomes and the sex chromosomes), and for subchromosomal gains and losses on every chromosome. There is potential utility in detecting rare or novel large subchromosomal imbalances, as they are likely to be associated with abnormal clinical phenotype when present in the fetus, and may indicate a familial balanced rearrangement. The clinical utility of screening for rare autosomal aneuploidies is less certain. Most rare autosomal aneuploidies (95%) are confined to the placenta, and those which are present in the fetus as well as the placenta often result in early fetal demise.9 The resolution of WGS NIPT is likely to increase as deeper sequencing becomes viable and cost‐effective. Whereas prenatal microarray testing of amniotic fluid in Australia is primarily used in the context of a fetal structural abnormality, higher resolution NIPT could become a general screening test. This would, however, increase both the number of variants of uncertain significance and the likelihood that they are detected in an apparently phenotypically normal fetus.3,10 Ethical concerns Respect for maternal autonomy is an important ethical principle in clinical guidelines for prenatal screening. Recommendation 2 of the Royal Australian and New Zealand College of Obstetricians and Gynaecologists guidelines states: “Screening or diagnostic testing for fetal chromosomal and genetic conditions is voluntary and should only be undertaken as an informed decision by the pregnant woman”.11 In light of the issues surrounding clinical utility and complexity of expanded panels and WGS NIPT, care needs to be taken to ensure that autonomy is respected. Moreover, consent alone cannot be expected to do the ethical heavy lifting, because of (i) the challenges in providing adequate information arising from complexity of the tests; (ii) the risk of power imbalances and “normalisation” of testing; (iii) anxiety resulting from complex and potentially unnecessary medical decisions; (iv) the problem of screening for “normality” and genetic reductionism; and (v) the doctor’s responsibility in determining which NIPT test is clinically indicated. Complexity endangers informed consent Respect for autonomy requires that informed consent is obtained. From a medico‐legal perspective, consent must be given voluntarily. The individual must also be sufficiently informed regarding a test or procedure, including the associated risks and benefits. The requisite extent of information provision is generally determined in accordance with what information a reasonable person, in that person’s circumstances, would expect to receive. From an ethical perspective, however, it is the understanding of information that is important, not merely that a person was given the legally required information. Given the complexity of extended panels and WGS NIPT, ensuring understanding means that significant time needs to be invested. Power imbalances and normalisation Two additional factors could ethically undermine consent for all NIPT options. First, the power imbalance between a doctor and patient, whereby a patient simply agrees because “doctor knows best” and, second, the impression that NIPT is a normal part of care that it would be foolish to reject.12 The anxiety caused by uncertain results It is tempting to respect autonomy by being non‐paternalistic and non‐directive in counselling by giving parents all the information from prenatal testing regardless of its nature. However, this shifts the burden of the uncertain results and the resultant anxiety to the parents. Qualitative and quantitative research shows higher levels of decisional regret among parents whose results identified variation of uncertain significance. At least some parents would not have consented to the test if they had known what this would entail. The lack of certainty by clinicians about what these results might actually mean for a future child increased parental distress.13 The meaning of screening and the danger of genetic reductionism According to the synthesis of screening criteria offered by Andermann and colleagues (Box 2), screening should be used to identify an individual who is high risk for a specific disease or need, thereby filling the perceived gap between standard screening and invasive diagnostics.14 Screening is then followed up with diagnostic tests and appropriate treatment. The availability of extended panels and WGS NIPT (Box 1) increases the tendency away from screening for diseases guided by public health screening principles. It is difficult to identify a recognised need or define the objectives of the screening beyond merely looking to see if there is anything abnormal. Even if these principles were met, one may be detecting placental pathology, or clinical conditions with highly variable outcomes for the fetus. As the resolution of WGS NIPT increases, so does the likelihood of detecting variants of uncertain significance. Provision of extended panels and WGS NIPT should be seen in light of the bigger question of how we see genetic information in our society.15 Research shows that many genetic tests are in effect screening for “normality”, which partly explains the anxiety when variants of uncertain significance are reported.13 This approach potentially changes the purpose of screening from screening for a specific disease to screening for normality by identifying any abnormality in the genome. The error in this thinking is that it assumes that genetic variation is abnormal. Just because a genetic anomaly can be identified does not necessarily mean that it would be phenotypically expressed. Similarly, detection of genes associated with adult onset disease does not necessarily equate to disease, and the possible future development of therapies for currently untreatable conditions cannot be ruled out. Consent is not sufficient to justify a procedure of questionable clinical utility Screening should be recommended or chosen only if there is likely to be a proportionate benefit, and there is no disproportionate burden. What is proportionate rests on a number of objective and subjective factors, but the aforementioned public health screening principles provide a good starting point. We agree with national guidelines that recommend against routine screening for recurrent microdeletions, and recommend provision of in‐depth counselling before screening for sex chromosome abnormalities.11 Recommendations The following recommendations may address the clinical and ethical concerns outlined above. Informed consent is required for all NIPT tests, especially in the context of extended panels and WGS NIPT. Clinicians must understand the different abnormalities targeted by extended NIPT panels and be able to assess and communicate the clinical utility of screening in accordance with a particular patient’s needs, desires and circumstances (Box 1). If ordering WGS NIPT, given that there may be significant uncertainty as to the actual phenotypic or functional manifestation of a genetic variation in a particular child, the consent process should include helping to contextualise limitations and risks in the broader context of the human experience of risk and uncertainty. Genuine shared decision‐making models can empower patient autonomy by helping them to understand the implications of their possible decisions in relation to their values.16 Moreover, decision tools and algorithms that align a variety of scenarios with personal values can facilitate a high quality informed consent process. Higher resolution WGS NIPT should only be used for research purposes until we have robust data regarding its clinical utility. Box 1 – Non‐invasive prenatal testing (NIPT) options: current availability and main advantages and disadvantages CPM = confined placental mosaicism; PPV = positive predictive value; WGS = whole genome sequencing. Box 2 – Synthesis of screening criteria12 The screening program should respond to a recognised need. The objectives of screening should be defined at the outset. There should be a defined target population. There should be scientific evidence of screening program effectiveness. The program should integrate education, testing, clinical services and program management. There should be quality assurance, with mechanisms to minimise potential risks of screening. The program should ensure informed choice, confidentiality and respect for autonomy. The program should promote equity and access to screening for the entire target population. Program evaluation should be planned from the outset. The overall benefits of screening should outweigh the harm.

Joseph Thomas · James Harraway · David Kirchhoffer

Although VTE risk in minor gynaecological procedures is low, a systematic approach to prophylaxis is necessary

Esther MC Johns · Alex Ades · Pavitra Nanayakkara

There is more to female sexual function than circulating testosterone, and symptomatic women require a thorough clinical evaluation The 2019 global consensus position statement on the use of testosterone therapy for women1 aims to provide guidance for clinicians managing women with female sexual dysfunction. The recommendations, graded according to levels of evidence, have been developed by an international taskforce with representatives from a range of organisations and societies, headed by Australian endocrinologist Professor Susan Davis, the current President of the International Menopause Society. The position statement bases many of its recommendations on a systematic review and meta‐analysis of randomised controlled trials.2 The meta‐analysis includes data from 36 randomised controlled trials with 8480 participants and includes studies with a testosterone treatment duration of at least 12 weeks. The primary outcome indicates an improvement in satisfying sexual events, measured as a mean increase of one event over 4 weeks with the use of testosterone. There were also improvements in other parameters associated with sexual function, including sexual desire, arousal and self‐image. There were no cognitive, psychological, wellbeing or musculoskeletal (including bone mineral density) benefits. In doses that approximate physiological levels, the main adverse effects of testosterone therapy are significant increases in acne and hair growth but no difference in alopecia, clitoromegaly or voice change. The position statement provides recommendations covering the assessment of women with female sexual dysfunction, laboratory measurement of testosterone, indications for treatment, and ongoing monitoring once treatment is commenced. It emphasises that the only evidence‐based indication for the use of testosterone in women is the treatment of post‐menopausal women who have been diagnosed with hypoactive sexual dysfunction disorder (HSDD) after formal biopsychosocial assessment. Doses that approximate physiological testosterone concentrations in pre‐menopausal women are recommended. At these doses, testosterone therapy is not associated with serious adverse events. Notably there are no safety data for beyond 24 months of treatment. There are insufficient data regarding the use of testosterone therapy in pre‐menopausal women. The position statement does not comment regarding women with premature ovarian insufficiency and recommends caution in women with a breast cancer diagnosis, reflecting the lack of data.3,4 The classification of female sexual disorders has been a source of controversy and debate. In the Diagnostic and Statistical Manual of Mental Health Disorders, 5th Edition, HSDD and female sexual arousal disorder (FSAD) have been amalgamated and classified as a single entity: female sexual interest/arousal disorder. The writing group for the position statement regards HSDD and FSAD to be distinct conditions, a view shared by experts in the field.5,6 Diagnostic criteria for both conditions are outlined in Box 1.7 It is important to understand this clinical distinction as the position statement does not consider FSAD to be an indication for testosterone therapy. Serum testosterone levels decline during the reproductive years and are significantly reduced in women post‐oophorectomy.8 There was no reported correlation between androgen levels and reported sexual function in one study,9 and there is no serum testosterone cut‐off below which women are more likely to experience HSDD. The authors of the position statement comment that the relationship between endogenous androgen concentrations and sexual function remains uncertain because of issues related to androgen assays in some studies. Notwithstanding these factors, it is recommended that a baseline measurement of testosterone be taken to avoid overtreatment.1 Serum total testosterone rather than free testosterone is the recommended biomarker. The significance of free testosterone in the context of female sexual dysfunction has not been evaluated. Most commercial assays in Australia use immunoassays to measure testosterone, while free testosterone and free androgen index are calculated from total testosterone and sex hormone‐binding globulin. However, immunoassays are considered unreliable, particularly for low levels in the female reference range. Liquid and gas chromatography and mass spectrometry, while not yet in common use, are considered far more accurate and efforts are being made to increase availability.10 The position statement does not comment on whether menopausal hormone therapy should be used concurrently with testosterone therapy. However, a biopsychosocial model of treatment of female sexual dysfunction is recommended, which may include menopausal hormone therapy. Multiple studies have looked at the effect of oestrogen therapy alone, testosterone alone and a combination of the two on female sexual function, with variable outcomes. One of the main criticisms of studies demonstrating no improvement with oestrogen (alone or combined with testosterone) is that low therapeutic doses of oestrogen were used and circulating oestradiol levels were either not measured or were low and did not reach pre‐ovulatory levels consistent with those seen in pre‐menopausal women.11 Only one of eight studies included in the meta‐analysis did not include concomitant menopausal hormone therapy.2 Systemic oestrogen therapy is known to improve hot flushes, urogenital symptoms and mood disturbance, while topical vaginal oestrogen is effective in managing vulvovaginal atrophy.12 Both improve wellbeing in menopausal women and may enhance libido such that other therapies are not required,13 although an improvement in absolute terms has not been described. Our view is that menopausal hormone therapy with oestrogen with or without progestogen should be considered initially in all post‐menopausal women who present with low libido before the initiation of testosterone. A significant issue is the clinical meaningfulness of the finding of a mean increase of one satisfying sexual event per month. Many will argue that such an outcome does not justify the use of testosterone therapy in clinical practice. In context, however, the meaningfulness will depend on the individual woman. For example, for a woman experiencing no satisfying sexual events, an extra one per month would equate to twelve extra events per year and could represent a significant improvement in her quality of life. Consumer involvement in the development of the position statement may have provided insight into this question. In the meta‐analysis, testosterone therapy compared with placebo was found to reduce personal distress, a key component of HSDD, in all studies of post‐menopausal women. Perhaps more relevant to the discussion is whether a satisfying sexual event is adequate as the primary measure of efficacy for treatment. The authors address this in the final part of the position statement. Appropriately, recommendations are made for the design of future clinical trials, including the development of a validated instrument for the screening and diagnosis of HSDD that can also be used as a marker of efficacy of treatment. Australian perspective Sexual dysfunction is common among Australian women. The prevalence of low sexual desire and HSDD was 69.3% and 32.2%, respectively, among a sample of community‐based women aged 40–65 years in one study.14 In older women, the prevalence of HSDD was reported to be one in seven women in a population of women aged 65–79 years living in the community.15 The use of testosterone for therapeutic purposes in women has been controversial. Despite this, clinicians in many countries including Australia have been prescribing testosterone off‐label primarily for low sexual desire in women for several years.16 Various formulations have been used, including subcutaneous pellets, transdermal gels and intramuscular injections that are designed for men, with dosing then adjusted for the female population. In this setting, there is greater potential for treatment to result in supraphysiological testosterone levels. The position statement suggests that ‘‘where approved female preparations are unavailable, off‐label prescribing of an approved male formulation is reasonable”.1 Bio‐identical and compounded products are not recommended. In Australia, a 1% transdermal testosterone cream is available, designed specifically for women and indicated for symptoms caused by testosterone deficiency. Although the product is unlicensed in Australia, it has been available on prescription from pharmacies within Western Australia since 1999 due to an exemption under section 6 of the Therapeutic Goods Act 1989 (Cth). Women prescribed this treatment in other states are required to access it by mail order along with a prescription from their clinician. It was submitted for Therapeutic Goods Administration evaluation and inclusion on the Australian Register of Therapeutic Goods as a registered product in 2019 for the proposed indication of treatment of hypoactive sexual desire dysfunction in post‐menopausal women, and a response is expected by the end of 2020 (Michael Buckley, Medical Director, Lawley Pharmaceuticals, personal communications). Although limited by small sample sizes, pharmacokinetic and clinical studies of the recommended 5–10 mg daily dose of this cream demonstrated total and free testosterone levels within or above the pre‐menopausal range.17,18,19 Its availability in Australia overcomes the need to consider male preparations or compounded and bio‐identical products. The publication of the position statement will increase awareness of female sexual dysfunction in the medical community. Clinicians managing these patients will require education in practical terms about assessing such patients for HSDD and safely prescribing and monitoring testosterone therapy when indicated. Based on the authors’ expertise and experience, we propose an algorithm for the assessment of women presenting with female sexual dysfunction and use of testosterone (Box 2), with women initially undergoing a biopsychosocial assessment.6 We recommend information sheets for clinicians and patients written by local experts be made available on the websites of the Australasian Menopause Society, the Endocrine Society of Australia and the Royal Australian and New Zealand College of Obstetricians and Gynaecologists. Conclusion The position statement is a timely addition to the literature regarding testosterone therapy for women. What is clear is that there is more to female sexual function than circulating testosterone and that symptomatic women require a thorough clinical evaluation, assessing for other factors which may be contributing to their presentation. Testosterone therapy is a small piece of the puzzle in the management of female sexual dysfunction. This position statement provides clarification regarding the indication, adverse effects and knowledge gaps. The availability in Australia of a transdermal testosterone preparation designed for women obviates the need to use male preparations, but further research regarding efficacy and safety is necessary. Future studies should address the safety of long term use of testosterone in women, particularly with respect to cardiovascular disease and breast cancer. Box 1 – Definition of hypoactive sexual desire disorder and female sexual arousal disorder7 Disorder Definition Hypoactive sexual desire disorder Any of the following for a minimum of 6 months: lack of motivation for sexual activity as manifest by reduced or absent spontaneous desire (sexual thoughts or fantasies); or reduced or absent responsive desire to erotic cues and stimulation or inability to maintain desire or interest through sexual activity loss of desire to initiate or participate in sexual activity, including behavioural responses such as avoidance of situations that could lead to sexual activity that is not secondary to sexual pain disorder AND is combined with clinically significant personal distress that includes frustration, grief, guilt, incompetence, loss, sadness, sorrow or worry Female sexual arousal disorder* Female cognitive arousal disorder Distressing difficulty or inability to attain or maintain adequate mental excitement associated with sexual activity as manifest by problems with feeling engaged, or mentally turned on or sexually aroused for a minimum of 6 months Female genital arousal disorder Distressing difficulty or inability to attain or maintain adequate genital response associated with sexual activity for a minimum of 6 months, including: vulvovaginal lubrication engorgement of the genitalia sensitivity of the genitalia associated with sexual activity Disorders related to: vascular injury or dysfunction, or neurological injury or dysfunction * Encompasses female cognitive arousal disorder and female genital arousal disorder Box 2 – Testosterone therapy for post‐menopausal women: proposed algorithm CNS = central nervous system; CVD = cardiovascular disease; HSDD = hypoactive sexual desire disorder; IMS = International Menopause Society; VTE = venous thromboembolism. * Simon et al.6 † Jane and Davis.20

Christina Jang · Jacqueline A Boyle · Amanda Vincent

A recently developed national transport and cryopreservation service improves equity of access to fertility care for young people across Australia Loss of fertility, which is a well recognised complication of cancer treatment, has a significant impact on quality of life and is ranked as one of the top survivorship concerns.1 Improvements in survival (> 88% for adolescents and young adults) and expansion of fertility preserving options have stimulated rapid evolution of the fertility preservation landscape, aiming to decrease this devastating impact of cancer therapy.2 In addition to the gonadotoxic burden of cancer treatment, societal trends of delayed fertility mean that there are many young people who have not yet completed or even commenced trying for a family when diagnosed with a life‐threatening illness. Fertility discussion, and provision of services to preserve gametes or tissue, is no longer seen as a distraction or a luxury but is acknowledged as a mandatory part of cancer management.3 However, barriers to provision of fertility preservation care remain. These include the lack of education of health care providers about both the long term fertility consequences of cancer treatment and the clinical value of available options. There is also often a lack of clarity about whose role it is to educate patients about these options. Importantly, there can be significant logistic, geographic and economic barriers for patients, especially outside the major centres, such that only 4–50% of young people take up fertility preservation in a timely fashion.4 Established strategies to preserve fertility for the future include medical therapies to protect the primordial follicle pool, vitrification of oocytes and embryos, and ovarian tissue cryopreservation for females. Mature sperm freezing is undertaken in post‐pubertal males, and testicular tissue cryopreservation, while providing the only opportunity for pre‐pubertal boys, is still considered experimental.3 Gonadal tissue cryopreservation Ovarian tissue cryopreservation is the only option for prepubertal girls and may be the only or best option for women at high risk of infertility from cancer treatment, particularly if there are time constraints or safety concerns with other options. Ovarian tissue cryopreservation is no longer considered experimental by peak bodies,3 and there have been over 140 births worldwide following ovarian tissue grafting, including several in young women whose ovarian tissue was cryopreserved as pre‐pubertal children.5 Testicular tissue cryopreservation provides an experimental option for fertility preservation in pre‐pubertal boys at significant risk of azoospermia from gonadotoxic treatments. As boys do not produce mature sperm that can be frozen, a treatment involving testicular biopsy and cryopreservation of spermatogonial stem cells, followed by transplantation into the testis after treatment, is proposed to allow restoration of fertility.6 Recent publications of in vitro sperm maturation and live birth success using the primate animal model provide optimism, such that the joint international consensus statement of peak fertility bodies in 2015 recommended that testicular tissue cryopreservation should be offered for pre‐pubertal boys,3 despite the currently experimental nature of future use, especially as there are no other options. Testicular biopsy can be safely performed and often coordinated concomitantly with other medically necessary procedures without delaying the start of treatment.7 While cryopreservation of eggs, sperm and embryos is a routine part of assisted reproductive laboratory activity, the technique for cryopreservation of ovarian and testicular tissue is biophysically different, and very few centres nationally and internationally have established tissue cryopreservation laboratories with validated, published protocols and clinical success after thawing.8 Due to distance challenges within Australia and lack of resources to meet the needs of these patients, particularly those who reside in rural and remote areas, ovarian and testicular tissue cryopreservation is not accessible to over 70% of people who would benefit from this opportunity.4 Establishment of the National Ovarian and Testicular Transport and Cryopreservation Service To provide equity of access to fertility care, the Fertility Preservation Service at the Royal Women's Hospital in Melbourne has developed the National Ovarian and Testicular Transport and Cryopreservation Service, allowing collaboration between local units and specialised centres, with professional and patient education as part of the program. There are several successful international models for collaborative care with published protocols and data to support transportation and storage of gonadal tissue or gametes in a specialised centre with expertise, health and safety regulations.9 The live birth rates with and without overnight transportation are comparable.9 The Fertility Preservation Service, a partnership between the Royal Women's Hospital and Melbourne IVF, was established 30 years ago. It is the largest service of its kind in Australia, with clinical expertise in counselling, cryopreservation, testing, storage and transport procedures. It sees about 300 patients per year, managed by a multidisciplinary team of fertility specialists, nurses, research scientists, research managers, laboratory staff, counsellors and administrators. There have been increasing referrals each year, reflecting the increased demand. Eighty percent of these are cancer related, with serious medical conditions and gender dysphoria forming the remainder. The Fertility Preservation Service has built extremely strong relationships with cancer centres, both in Victoria and nationally, and collaborates closely with other fertility preservation units, including the Fertility and Research Centre in NSW and the Royal Children's Hospital Melbourne. It supports data collection for the Australasian Oncofertility Registry.10 Based on a recent Fertility Society of Australia survey,11 we believe that Victoria, possibly because of both the dedicated fertility preservation centre and the well developed collaborative relationships, has the highest rate of patients referred for fertility consultation. The service stores gonadal tissue from over 1000 patients. Ovarian tissue grafting has been performed in 40 patients, with five children born and a live birth rate of 20% per embryo transferred. There are also mature eggs and embryos which have been cryopreserved from ovarian tissue stimulation. Testicular tissue has been cryopreserved for 163 patients. The establishment of a centralised national tissue retrieval and transport program allows gonadal tissue harvesting to take place in a local centre with subsequent transportation to the central laboratory for processing, cryopreservation and storage. Communication with the National Ovarian and Testicular Transport and Cryopreservation Service team occurs via a paging service which is checked daily by a dedicated nurse, with treating clinician and, when appropriate, patient follow‐up by teleconference. Subsequently, ovarian tissue grafting may be performed at the Royal Women's Hospital or the tissue can be transported back to the local centres. The service also provides follow‐up and psychological support for patients, and educational resources to assist with all aspects of fertility preservation, both for patients and health practitioners. Fertility preservation is a mandatory part of cancer care; the National Ovarian and Testicular Transport and Cryopreservation Service program will improve equity of access to fertility preservation for young women and men around Australia.

Genia Rozen · Stephanie Sii · Franca Agresta · Debra Gook · Catharyn Stern

Publicly funded reproductive carrier screening programs must weigh up a number of ethical considerations Reproductive genetic carrier screening (RCS) is undertaken by individuals or couples to determine their likelihood of having a child with particular autosomal recessive or X‐linked genetic conditions. It can be undertaken by anyone of reproductive age who wishes to have it, regardless of their family history or ancestry, and either before or during pregnancy.1 Some forms of RCS are currently available in Australia on a user‐pays basis, costing around $400–$500 per person. It is usually accessed via general practitioners but can also be accessed directly from testing companies.2 People who receive an increased chance result are offered genetic counselling to explore their reproductive options, which might include steps to avoid having a child with a genetic condition. Taking the test before pregnancy gives those with an increased chance result a wider range of reproductive options compared with prenatal testing.3 The Australian Reproductive Genetic Carrier Screening Project (Mackenzie's Mission), announced by federal Health Minister Greg Hunt in 2018, is a research project offering RCS to 10 000 Australian couples. Recruitment via participating health professionals commenced in late 2019. Mackenzie's Mission is gathering evidence — including clinical, laboratory, psychosocial, health economic and ethical aspects — to inform how publicly funded screening could be operationalised in Australia within ten years.4 Here, we reflect on the ethical implications of RCS in Australian health care.5 While the issues raised apply to all types of RCS, we focus on aspects relating to large scale, publicly funded initiatives like Mackenzie's Mission. Ethics and the goals of RCS A central ethical issue for large scale RCS initiatives is how their goals are described. Two main foci for articulating the goals of such programs are (i) outcomes for individuals and their families, such as reproductive autonomy; and (ii) outcomes for populations, such as reduced incidence of certain genetic conditions. It has been argued that a goal of seeking to reduce the population incidence of babies who will develop severe genetic conditions is inappropriate for RCS.6 This line of reasoning draws partly on concerns about perceived coercion; when RCS is offered routinely, couples may perceive that participating is the right thing to do, even if testing is optional.7 Additionally, such a goal might be interpreted as implying that couples who receive an increased chance result are then obliged to take action to avoid the birth of an affected child. Any future national program must be delivered as a genuinely optional intervention, respecting couples’ values and preferences. It has also been argued that the goal of reducing the incidence of certain genetic conditions in the population expresses an unfavourable judgement about the value of the lives of people who currently live with such a condition.8 Therefore, in the case of RCS it is considered more ethically acceptable for a program's stated aim to be aligned with the first set of outcomes mentioned above; namely, to support couples’ reproductive autonomy through provision of relevant information to enable choices that are consistent with their values.1 RCS programs are also motivated, at least in part, by the desire to mitigate harms that couples who have parented a baby or child with a severe or fatal genetic condition experience. These harms include the grief of losing a child or witnessing one's child suffering. RCS might enable some parents to avoid such distressing experiences. Emphasising the severity of a condition included in a screening program arguably lessens any implied negative judgement about people living with genetic conditions screened for. However, ethical debate on what constitutes a severe or serious condition remains ongoing.9 Ethical aspects of gene selection A significant component of designing a publicly funded RCS program is determining which genes warrant inclusion for testing.10 Since screening can be stigmatising for people living with the genetic conditions screened for, it is considered most ethically defensible to screen only for genes associated with severe childhood‐onset conditions.1,3 However, because perceptions surrounding seriousness and severity are not purely objective,9 any RCS program must carefully weigh the diverse ways in which a condition can present, as well as the implications of that condition for the person and their family. There are also ethical aspects regarding the classification of gene variants identified during the testing process.11 There can be a degree of uncertainty as to how strongly a particular variant is associated with a genetic condition, an issue compounded in population screening because there is no index case (proband) to facilitate interpretation. This has ethical implications because reporting a variant as disease‐causing when it is not may mean a couple will experience additional uncertainty and perhaps go through unnecessary tests or interventions. On the other hand, not reporting a variant that does turn out to be disease‐causing means a couple may go on to have a child with a serious condition despite receiving a low chance result from RCS. This issue will remain important for some time, especially as variant databases are still developing. Consent for RCS: enabling meaningful choices Whether and how to gain consent can be contentious in many public health screening programs.12 While both consent and pre‐test education are important for RCS,1 determining how best to do this can be complex. It has been argued that when screening is perceived as routine, people will be less likely to reflect critically on whether it is appropriate for them, or to consider whether the results will be relevant to their decision making.7 Support for pre‐test decision making such as educational videos and decision aids can help couples consider the implications of an increased chance result and their options for reproduction. Mackenzie's Mission is one of several large scale population‐based RCS initiatives globally that have curated large panels of genes to test using a couple‐based model.5,10,13 It is important for participants to understand that RCS is designed to provide the couple with information that might help with decisions about reproduction, rather than to convey genetic risk information for their own health. Participants will also be encouraged and supported to reflect on their values and their goals for testing, to help them decide whether this screening will be useful or important for them.14 Reporting results: ethical implications Results of any genetic test can be complex and might be uncertain.15 As such, results from RCS need to be provided in a way that is meaningful and useful. To optimise the utility of their results, participants will require a basic understanding of key concepts such as what it means to carry a recessive genetic condition, and the implications of an increased chance finding. It is also important to ensure that participating in screening is not interpreted as guaranteeing that someone will have a healthy child. Publicly funded population RCS globally is tending towards reporting couple‐based findings. Evidence suggests that participants understand and accept this approach and that it is feasible as a population screening model.5,13,16 Mackenzie's Mission participants will be informed when they both carry the same disease‐causing variant for an autosomal recessive condition, or when the genetic mother is found to carry one of the X‐linked conditions screened for. Reporting only couple‐based findings is justifiable from an implementation perspective, for both programmatic and pragmatic reasons. Programmatically, RCS aims to inform reproductive choices, so it provides couples with information relevant to those choices. Any potential for false reassurance can be carefully addressed during the pre‐ and post‐test education processes. Pragmatically, publicly funded RCS would be prohibitively expensive to offer if it reported individual carrier results, as the majority of individuals screened are likely to be a carrier for something.16 Each of these people would then need individual follow‐up, despite their future offspring having a very low chance of actually having that autosomal recessive condition, even if they were to re‐partner.17 Moreover, this information has no clinical utility for the individual's own health. It also has the potential to provoke anxiety. As such, it is premature and potentially inequitable to provide individuals with information relating to their individual carrier status without providing further support. Further research will inform considerations of the ethical and psychosocial aspects of using an RCS framework to report individual results, including the possibility of offering individual results for a limited number of the more prevalent conditions on the panel. Public funding How RCS is funded is also ethically relevant, not least due to the perceived endorsement of screening by the state when a program is publicly funded. A formal, publicly funded, screening program may have advantages,18 but public funding might also carry tacit value implications. Experience with antenatal screening suggests that blame and guilt can be associated with declining an offer of screening.19 Funding models can also reinforce routinisation, where a screening offer might be perceived as encouraging or even coercing couples to terminate a pregnancy if a genetic condition is identified in the fetus.7 Within public funding structures, ethical issues also arise from the mode of offer of RCS, either in the context of a formal population screening program (likely to be delivered by centralised, publicly funded entities) or via a Medicare item number. Provision via Medicare will allow any provider who can meet the item number requirements to offer the test, and as such is likely to attract a greater commercial presence in RCS. The resulting fragmentation might constitute a lost opportunity for uniform evaluation of program effectiveness and might also give rise to inconsistencies in aspects of test provision, such as counselling. On the other hand, provision through Medicare may also enable RCS to be rolled out more quickly than establishing a formal population screening program. Cost‐effectiveness of population‐wide RCS has not yet been established conclusively by the existing evidence;11 however, one of the aims of Mackenzie's Mission is to generate such evidence for the Australian health care system. RCS and community values Underlying these ethical considerations is the question of how RCS reflects societal values. While most people are likely to agree on core principles such as respecting couples’ choices about whether to participate in screening, there will also be variations in preferences between communities, families and individuals.20 Future delivery of a national RCS program in Australia will need to recognise and respond to this diversity, while also upholding the values that motivate the program. The central values for RCS in Australia are good health outcomes for families and communities, alongside respect for all Australians, equity in program design and delivery, and reproductive autonomy.

Lisa Dive · Ainsley J Newson