Offering and Returning Secondary Findings in the Context of Exome Sequencing for Hearing Loss: Clinicians' Views and Experiences.

BACKGROUND: There is ongoing debate regarding whether and under which circumstances secondary findings (SF) should be offered in the pediatric context. Although studies have examined patient perspectives on receiving SF, little research has been conducted examining the experiences of clinicians offering SF to parents of newborns receiving genomic sequencing for a recently diagnosed medical condition. METHODS: To address this, we conducted qualitative interviews exploring the views and experiences of 12 clinicians who offered SF to parents of infants who had diagnostic exome sequencing (ES) to identify the cause of their hearing loss. Interviews explored clinicians' accounts of parents' choices and decision-making about receiving SF, their views on whether and when to offer SF, their experiences returning SF, and any ethical challenges they encountered. Interviews were audio-recorded, transcribed and analyzed using inductive content analysis. RESULTS: Clinicians reported parents who declined all SF often felt finding out about future conditions unrelated to their child's hearing loss may be unhelpful, or even harmful, or were overwhelmed by their child's diagnosis. Clinicians also reported that some parents chose SF because they felt obliged to, even if they did not want to receive them. They explained that while some parents experienced decision-making regarding SF as positive, for others, this process was challenging or distressing. While clinicians generally agreed SF should be offered, mainly to promote parental choice, most felt SF should be offered after disclosing diagnostic results, primarily to avoid overwhelming parents. Clinicians encountered several ethical challenges, including balancing parental autonomy with non-maleficence, wanting to report or not report certain SF, and questioning whether parents can make an autonomous choice regarding SF. CONCLUSIONS: Our findings, which are novel as they relate to parents of young infants with a recent diagnosis of hearing loss, add new insights into clinicians' and parents' decision-making regarding SF in pediatrics.

Australian healthcare professionals' perspectives on the ethical and practical issues associated with genomic newborn screening.

Newborn bloodspot screening (NBS) is a successful public health initiative that seeks to identify serious, treatable medical conditions. The increasing use of genomic sequencing (GS) in a wide range of medical settings has reignited the discussion on whether GS can and should be integrated into NBS. Yet, the perspectives of healthcare professionals (HCPs) in Australia on the ethical and practical issues associated with the implementation of genomic newborn screening (GNBS) are underexplored. To address this, we conducted semi-structured interviews with 16 Australian HCPs with clinical or policy experience in NBS and/or GS to explore their perspectives on the ethical, social, and practical issues raised by integrating GS into NBS. Interviews were analyzed using inductive content analysis. When asked whether GS should be incorporated into NBS, HCPs did not feel it was currently appropriate but there was a strong consensus it may be implemented within the next decade. However, HCPs had differing perspectives on what conditions should be included and how to best handle the volume of data generated from GNBS. Our findings have important implications for determining at what point and how genomics can be integrated into NBS. The differing views expressed amongst HCPs suggest that further research is needed to explore the reasons behind this. Importantly, our participants highlighted a potential role for genetic counselors in the implementation of GNBS on a larger scale by developing educational resources to facilitate obtaining informed consent and return of results.

When (if ever) may doctors discuss religion with their patients?

There is ongoing debate within the bioethics literature regarding to what extent (if any) it is ethically justifiable for doctors to engage in religious discussion with their patients, in cases where patients cite religious considerations as influencing their medical decision-making. In this paper, we concede that certain forms of religious discussion between doctors and patients are morally permissible (though not necessarily morally obligatory), insofar as patients' religious beliefs may comprise an important part of their overall wellbeing and can influence their medical decisions. However, we argue that it is not morally permissible for doctors to engage in substantive religious discussion with their patients, beyond simply inquiring about the patient's values (which may include their religious values) or referring patients to a chaplain or religious figure for further discussion. In support of this claim, we put forward two key arguments which have remained relatively unaddressed in the current debate. First, we argue that it is not practical for doctors to engage in substantive religious discussion with patients, and hence it cannot be morally obligatory for them to do so. Second, we argue that, while doctors might have a professional duty to ensure that their patient's religious interests (if any) are addressed, this does not entail that doctors themselves are the ones who should directly address these interests. Along the way, we anticipate and respond to some possible objections to these two key arguments.

Bell v Tavistock: Why the Assent Model Is Most Appropriate for Decisions Regarding Puberty Suppression for Transgender and Gender Diverse Youth.

The decision of the High Court of England and Wales in Bell v Tavistock [2020] EWHC 3274 (Admin) raises important questions regarding best care for transgender and gender diverse (TGD) youth. In this section, I describe this case, its ruling, and its implications. The ruling is underpinned by the position that puberty suppression can only be ethically and legally permissible where the young person has not only provided their assent but has also been deemed capable to provide valid consent. I challenge this position on three grounds. First, it overlooks the key ethical question of whether puberty suppression is in the individual's best interests. Second, withholding puberty suppression until the young person can consent will likely result in harmful, irreversible consequences for them. Finally, puberty suppression is not sufficiently potentially harmful to justify the additional protection offered by requiring patient consent and court authorisation. For these reasons, I argue that an assent model should govern decisions about puberty suppression for TGD youth.

Should clinicians make chest surgery available to transgender male adolescents?

Bioethicists are increasingly engaged in considering the ethical issues associated with the care of transgender people. One such issue facing paediatric clinicians is requests for chest surgery from transgender male adolescents. For transgender young people who identify as male but have already progressed through the mid to late stages of puberty, hormone treatment will not reverse breast development. Some of these young people are distressed by their chest, and request surgery to remove this tissue. Demand for this surgery during adolescence is increasing. However, few paediatric hospitals make this intervention available to adolescents. This paper focuses on the following ethical question: Should clinicians make chest surgery available to transgender male adolescents? We argue that making chest surgery available to transgender male adolescents under some circumstances is ethically justifiable for three reasons, based on the concepts of beneficence, privacy, and non-discrimination. Firstly, the limited evidence to date suggests that chest surgery is beneficial to transgender male adolescents who seek this intervention. Secondly, chest surgery protects transgender adolescents' privacy by enabling them to better control disclosure of their transgender identity. Thirdly, chest surgery is already performed on other adolescent males for psychosocial reasons, such as in the case of gynaecomastia; non-discrimination thus provides a further reason for making chest surgery available to transgender male adolescents whose male gender identity is consistent. We suggest that the ethical justifiability of chest surgery in any specific transgender adolescent's case will depend on the individual patient's circumstances.

Selective Estrogen Receptor Modulators: A Potential Option For Non-Binary Gender-Affirming Hormonal Care?

Gender dysphoria describes the distress associated with having a gender identity that differs from one's birth-assigned sex. To relieve this distress, transgender, and gender diverse (henceforth, trans) individuals commonly undergo medical transition involving hormonal treatments. Current hormonal treatment guidelines cater almost exclusively for those who wish to transition from male to female or vice versa. In contrast, there is a dearth of hormonal options for those trans individuals who identify as non-binary and seek an androgynous appearance that is neither overtly male nor female. Though prolonged puberty suppression with gonadotrophin releasing hormone agonists (GnRHa) could in theory be gender-affirming by preventing the development of unwanted secondary sex characteristics, this treatment option would be limited to pre- or peri-pubertal adolescents and likely have harmful effects. Here, we discuss the theoretical use of Selective Estrogen Receptor Modulators (SERMs) for non-binary people assigned male at birth (AMAB) who are seeking an androgynous appearance through partial feminization without breast growth. Given their unique range of pharmacodynamic effects, SERMs may represent a potential gender-affirming treatment for this population, but there is a lack of knowledge regarding their use and potentially adverse effects in this context.

Clinicians' Views and Experiences with Offering and Returning Results from Exome Sequencing to Parents of Infants with Hearing Loss.

Exome sequencing (ES) is an effective method for identifying the genetic cause of hearing loss in infants diagnosed through newborn hearing screening programs. ES has the potential to be integrated into routine clinical care, yet little is known about the experiences of clinicians offering this test to families. To address this gap, clinicians involved in a clinical study using ES to identify the cause of infants' hearing loss were interviewed to explore their experiences with offering and returning results to parents. Interview transcripts were analysed using inductive content analysis. Twelve clinicians participated: seven genetic counsellors, four clinical geneticists, and one paediatrician. Most clinicians were supportive of offering ES to infants with hearing loss, primarily because results may inform the child's clinical management. However, some expressed concerns, questioning the utility of this information, particularly for isolated hearing loss. Clinicians had differing views regarding the optimal time to offer ES to families; while some felt that families can manage everything at once, others recommended delaying testing until parents have come to terms with their child's diagnosis. These findings show the complexity involved in determining how ES should be offered to families following the diagnosis of a child with hearing loss, particularly with regards to when testing is suggested.

"No One Stays Just on Blockers Forever": Clinicians' Divergent Views and Practices Regarding Puberty Suppression for Nonbinary Young People.

PURPOSE: Approximately half of transgender or gender diverse youth identify as gender nonbinary (not entirely or exclusively male or female). This study aimed to explore the views and practices of Australian clinicians working with transgender or gender diverse young people regarding puberty suppression for nonbinary youth, including requests for ongoing puberty suppression into adulthood. METHODS: Individual semistructured key informant interviews were conducted with 14 clinicians (medical and mental health) in Australia to explore their practices, views, and decision-making regarding puberty suppression for nonbinary youth. Transcripts were analyzed using inductive content analysis. RESULTS: Requests for puberty suppression from nonbinary young people are occurring, with 12 of 14 clinicians reporting they have received such requests. Although all clinicians were prepared to support short-term puberty suppression for nonbinary youth, clinicians diverged in their preparedness to support long-term puberty suppression. Clinicians expressed concerns in relation to risks, resource allocation, and medicalization. Some clinicians required nonbinary young people to choose a masculinizing or feminizing puberty. Some clinicians also put forward arguments in favor of long-term puberty suppression, including potential psychosocial harm of discontinuing puberty suppression, respect for autonomy, equity, and harm minimization. Clinicians also highlighted practical challenges of obtaining long-term puberty suppression in the adult setting. CONCLUSIONS: The decision of whether to provide puberty suppression, particularly long-term, to a nonbinary young person is both ethically and clinically complex. There is currently a diversity of practice in this area, and evidence-based ethical guidelines and outcome data could promote more informed decision-making and support clinicians working in this complex area.

Forever young? The ethics of ongoing puberty suppression for non-binary adults.

In this article, we analyse the novel case of Phoenix, a non-binary adult requesting ongoing puberty suppression (OPS) to permanently prevent the development of secondary sex characteristics, as a way of affirming their gender identity. We argue that (1) the aim of OPS is consistent with the proper goals of medicine to promote well-being, and therefore could ethically be offered to non-binary adults in principle; (2) there are additional equity-based reasons to offer OPS to non-binary adults as a group; and (3) the ethical defensibility of facilitating individual requests for OPS from non-binary adults also depends on other relevant considerations, including the balance of potential benefits over harms for that specific patient, and whether the patient's request is substantially autonomous. Although the broadly principlist ethical approach we take can be used to analyse other cases of non-binary adults requesting OPS apart from the case we evaluate, we highlight that the outcome will necessarily depend on the individual's context and values. However, such clinical provision of OPS should ideally be within the context of a properly designed research study with long-term follow-up and open publication of results.

Long-term Puberty Suppression for a Nonbinary Teenager.

Many transgender and gender-diverse people have a gender identity that does not conform to the binary categories of male or female; they have a nonbinary gender. Some nonbinary individuals are most comfortable with an androgynous gender expression. For those who have not yet fully progressed through puberty, puberty suppression with gonadotrophin-releasing hormone agonists can support an androgynous appearance. Although such treatment is shown to ameliorate the gender dysphoria and serious mental health issues commonly seen in transgender and gender-diverse young people, long-term use of puberty-suppressing medications carries physical health risks and raises various ethical dilemmas. In this Ethics Rounds, we analyze a case that raised issues about prolonged pubertal suppression for a patient with a nonbinary gender.

Drawing the line on in vitro gametogenesis.

In vitro gametogenesis (IVG) might offer numerous research and clinical benefits. Some potential clinical applications of IVG, such as allowing opposite-sex couples experiencing infertility to have genetically related children, have attracted support. Others, such as enabling same-sex reproduction and solo reproduction, have attracted significantly more criticism. In this paper, we examine how different ethical principles might help us to draw lines and distinguish between ethically desirable and undesirable uses of IVG. We discuss the alleged distinction between therapeutic and non-therapeutic uses of assisted reproduction in the context of IVG, and show how it is both problematic to apply in practice and theoretically dubious. We then discuss how the ethical principles of reproductive justice and beneficence apply to IVG for opposite-sex reproduction, same-sex reproduction, and solo reproduction. We suggest that these principles generate strong reasons for the use of IVG for opposite-sex and same-sex reproduction, but not for solo reproduction.

Ethical issues associated with solid organ transplantation and substance use: a scoping review.

While solid organ transplantation for patients with substance use issues has attracted ethical discussion, a typology of the ethics themes has not been articulated in the literature. We conducted a scoping review of peer-reviewed literature on solid organ transplantation and substance use published between January 1997 and April 2016. We aimed to identify and develop a typology of the main ethical themes discussed in this literature and to identify gaps worthy of future research. Seventy articles met inclusion criteria and underwent inductive content analysis. Four main ethical themes were identified: (1) personal responsibility; (2) utility; (3) moral character; and (4) fairness. Each theme had multiple sub-themes and there was substantial overlap between themes. This scoping review identified a disproportionate emphasis in the literature regarding personal responsibility, which was referenced by each of the other themes, and a narrow focus on alcohol and liver. We recommend future research further investigate these connections between ethical themes and focus on ethical issues associated with transplants from organ groups other than liver for patients who use substances other than alcohol.

'Operating is the easy part': Surgeons' decision-making processes and responses to parental requests for elective paediatric appearance-altering facial surgery.

Some parents request elective appearance-altering facial surgery for their children for cosmetic, psychological and/or social reasons. These operations have attracted controversy in the bioethics literature. They are also the subject of professional guidance documents internationally, which leave much to individual practitioners' discretion. Despite their controversial nature, very little is known about surgeons' practices and decision-making processes regarding these operations. Individual semi-structured interviews were conducted by 22 plastic surgeons and oral and maxillofacial surgeons in Australia to explore their descriptions of the types of parental requests they receive for these operations, their decision-making processes and their responses to these requests. Interviews were audio-recorded, transcribed and analysed using inductive content analysis. Surgeons reported parents often request these operations to alleviate or prevent teasing and associated psychosocial distress. However, surgeons expressed concern some parents may be requesting surgery to further their own interests, rather than their child's. Surgeons reported considering multiple factors when making decisions about the ethical justifiability of facilitating these parental requests, including children's wishes about surgery, the severity of the facial difference, the child's growth stage and parents' reasons for requesting. Although most surgeons appeared comfortable denying parental requests when they believe surgery is not in the child's best interests, some indicated they will acquiesce if parents persist. This study provides insights into surgeons' practices and decision-making processes regarding elective paediatric appearance-altering facial surgery requested by parents. It also highlights implications for clinical practice and education, and identifies areas warranting further research.

Philosophy of Healthcare Ethics Practice Statements: Quality Attestation and Beyond.

One element of the American Society for Bioethics and Humanities' recently-piloted quality attestation portfolio for clinical ethics consultants is a "philosophy of clinical ethics consultation statement" describing the candidate's approach to clinical ethics consultation. To date, these statements have been under-explored in the literature, in contrast to philosophy statements in other fields such as academic teaching. In this article, I argue there is merit in expanding the content of these statements beyond clinical ethics consultation alone to describe the author's approach to other important "domains" of healthcare ethics practice (e.g., organizational policy development/review and ethics teaching). I also claim such statements have at least three additional uses outside quality attestation: (1) as a reflective practice learning tool to increase role clarity among practicing healthcare ethicists and bioethics fellows; (2) assisting practicing healthcare ethicists in clarifying role expectations with those they work with; and (3) helping inform developing professional practice standards.

What kinds of cases do paediatricians refer to clinical ethics? Insights from 184 case referrals at an Australian paediatric hospital.

Clinical ethics has been developing in paediatric healthcare for several decades. However, information about how paediatricians use clinical ethics case consultation services is extremely limited. In this project, we analysed a large set of case records from the clinical ethics service of one paediatric hospital in Australia. We applied a paediatric-specific typology to the case referrals, based on the triadic doctor-patient-parent relationship. We reviewed the 184 cases referred to the service in the period 2005-2014, noting features including the type of case, the referring department(s) and the patient's age at referral. The two most common types of referral involved clinician uncertainty about the appropriate care pathway for the child (26% of total referrals) and situations where the child's parents disagreed with the doctors' recommendations for the child's care (22% of total referrals). Referrals came from 28 different departments. Cancer, cardiology/cardiac surgery and general medicine referred the highest numbers of cases. The most common patient age groups were children under 1, and 14-15 years old. For three controversial areas of paediatric healthcare, clinicians had initiated processes of routine review of cases by the clinical ethics service. These insights into the way in which one very active paediatric clinical ethics service is used further our understanding of the work of paediatric clinical ethics, particularly the kinds of ethically challenging cases that paediatricians view as appropriate to refer for clinical ethics support.