Centralised, compliance-focused approaches to research ethics have been normalised in practice. In this paper, we argue that the dominance of such systems has been driven by neoliberal approaches to governance, where the focus on controlling and individualising risk has led to an overemphasis of decontextualised ethical principles and the conflation of ethical requirements with the documentation of ‘informed consent’. Using a UK-based case study, involving a point-of-care-genetic test as an illustration, we argue that rather than ensuring ethical practice such compliance-focused (...) approaches may obstruct valuable research. We call for an approach that encourages researchers and research communities—including regulators, ethics committees, funders and publishers of academic research—to acquire skills to make morally appropriate decisions, and not base decision-making solely on compliance with prescriptive regulations. We call this ‘ethical preparedness’ and outline how a research ethics system might make space for this approach. (shrink)

This article investigates a high-profile and ongoing dilemma for healthcare professionals, namely whether the existence of a duty of care to genetic relatives of a patient is a help or a hindrance in deciding what to do in cases where a patient’s genetic information may have relevance to the health of the patient’s family members. The English case ABC v St George’s Healthcare NHS Trust and others considered if a duty of confidentiality owed to the patient and a putative duty (...) of care to the patient’s close relatives could coexist in this context. This article examines whether embracing the concept of coexisting duties could enable HCPs to respect duties in line with their clinical judgement, thereby providing legal support and clarity to professionals to allow them to provide the best possible genetics service to both the patient and their family. We argue that these dual duties, framed as a novel, composite duty to consider the interests of genetic relatives, could allow HCPs to exercise and act on their professional judgements about the relative value of information to family members, without fears of liability for negligence or breach of confidence. (shrink)

We discuss a case where medically optimal investigations of health problems in a donor-conceived child would require their egg donor to participate in genetic testing. We argue that it would be justified to contact the egg donor to ask whether she would consider this, despite her indicating on a historical consent form that she did not wish to take part in future research and that she did not wish to be informed if she was found to be a carrier of (...) a ‘harmful inherited condition’. We suggest that we cannot conjecture what her current answer might be if, by participating in clinical genetic testing, she might help reach a diagnosis for the donor-conceived child. At the point that she made choices regarding future contact, it was not yet evident that the interests of the donor-conceived child might be compromised by her answers, as it was not foreseen that the egg donor’s genome might one day have the potential to enable diagnosis for this child. Fertility consent forms tend to be conceptualised as representing incontrovertible historical boundaries, but we argue that rapid evolution in genomic practice means that consent in such cases is better seen as an ongoing and dynamic process. It cannot be possible to compel the donor to aid in the diagnosis of the donor-conceived child, but she should be given the opportunity to do so. (shrink)

Considerations of the notion of preparedness have come to the fore in the recent pandemic, highlighting a need to be better prepared to deal with sudden, unexpected and unwanted events. However, the concept of preparedness is also important in relation to planned for and desired interventions resulting from healthcare innovations. We describe ethical preparedness as a necessary component for the successful delivery of novel healthcare innovations, and use recent advances in genomic healthcare as an example. We suggest that practitioners and (...) organisations charged with delivering innovative and ambitious healthcare programmes can only succeed if they are able to exhibit the attribute of ethical preparedness. (shrink)

Gyngell and colleagues consider that the recent Nuffield Council report does not go far enough: heritable genome editing is not just justifiable in a few rare cases; instead, there is a moral imperative to undertake it. We agree that there is a moral argument for this, but in the real world it is mitigated by the fact that it is not usually possible to ensure a better life. We suggest that a moral imperative for HGE can currently only be concluded (...) if one first buys into an overly deterministic view of a genome sequence, and the role of variation within in it, in the aetiology of the disease: most diseases cannot simply be attributed to specific genetic variants that we could edit away. Multiple, poorly understood genetic and environmental factors interact to influence the expression of diseases with a genetic component, even well understood ‘monogenic’ disorders. Population-level genome analyses are now demonstrating that many genetic ’mutations' are much less predictive than previously thought 1. Furthermore, HGE might introduce new risks just as it reduces old ones; or remove protections not yet clearly delineated. (shrink)

Gils-Schmidt and Salloch recognise that human and climate health are inextricably linked, and that mitigating healthcare-associated climate harms is essential for protecting human health.1 They argue that physicians have a duty to consider how their own practices contribute to climate change, including during their interactions with patients. Acknowledging the potential for conflicts between this duty and the provision of individual patient care, they propose the application of Korsgaard’s neo-Kantian account of practical identities to help navigate such scenarios. In this commentary, (...) we argue that by focusing attention on this physician–patient level, the authors overlook the complexity of climate change, both within the healthcare sector and beyond. We recognise the importance of individual agency in tackling this issue, and we also recognise that the authors do briefly acknowledge the importance of considering these broader complexities; however, we emphasise the need for climate and health discussions/action to be situated in a wider framework of systemic change. Our concern is that overemphasis on patient-level interactions risks normalising the prioritisation of individual-level approaches to addressing climate change, detracting from such a broader approach. Physician training emphasises the need for trust, confidentiality and shared decision-making in the doctor–patient relationship. …. (shrink)

Much has been published about the ethical issues encountered by clinicians in genetics/genomics, but those experienced by clinical laboratory scientists are less well described. Clinical laboratory scientists now frequently face navigating ethical problems in their work, but how they should be best supported to do this is underexplored. This lack of attention is also reflected in the ethics tools available to clinical laboratory scientists such as guidance and deliberative ethics forums, developed primarily to manage issues arising within the clinic.We explore (...) what ethical issues are being experienced by clinical scientists, how they think such issues could be best analysed and managed, and whether their practice might be enhanced by more situated approaches to ethics deliberation and practice such as ethical preparedness. From thematic analysis of cases presented by clinical scientists at a specially convened meeting of the UK Genethics Forum, we derived three main ethical themes: (1) the redistribution of labour and responsibilities resulting from the practice of genomic medicine; (2) the interpretation and certainty of results and (3) the proposal that better standardisation and consistency of ethical approaches (for example, more guidelines and policy) could resolve some of the challenges arising.We argue that although standardisation is important for promoting shared understandings of good (including ethical) practice, supplementary approaches to enhance and sustain ethical preparedness will be important to help clinical scientists and others in the recently expanded genetic/genomic medicine environment foster quality ethical thinking. (shrink)

We discuss a case where clinical genomic investigation of muscle weakness unexpectedly found a genetic variant that might (or might not) predispose to kidney cancer. We argue that despite its off-target and uncertain nature, this variant should be discussed with the man who had the test, not because it is medical information, but because this discussion would allow the further clinical evaluation that might lead it to becoming so. We argue that while prominent ethical debates around genomics often take ‘results’ (...) as a starting point and ask questions as to whether to look for and how to react to them, the construction of genomic results is fraught with ethical complexity, although often couched as a primarily technical problem. We highlight the need for greater focus on, and appreciation of, the ethical work undertaken daily by scientists and clinicians working in genomic medicine and discuss how public conversations around genomics need to adapt to prepare future patients for potentially uncertain and unexpected outcomes from clinical genomic tests. (shrink)

We thank Lucy Frith for her thought-provoking response1 to our paper, where we argued that it would be ethically acceptable to contact an anonymous egg donor to help facilitate diagnostic genetic testing for a donor-conceived child.2 While we read Frith’s commentary with interest, we still think that the egg donor should be contacted in the case that we describe. Frith raises concerns as to whether contact would constitute ‘ overriding consent ’, thus ’ potentially set a dangerous precedent ’ for (...) existing gamete donors and donor-conceived children. In contrast, we consider that contacting the egg donor would not override her consent, as her views on contact in the instance that has now arisen were never sought. Our view is that given we do not currently know what she might want, contacting her is a more legitimate way of respecting her autonomy than trying to anticipate her likely answer. We strongly agree with Frith’s suggestion that future consent discussions around gamete donation should make explicit ‘ the possibility of being contacted in the future if there is a relevant reason for doing so ’. Frith expresses a concern that contact would constitute ‘ overriding [the egg donor’s] consent ’, meaning that we have to ‘ justify contacting the egg donor against her previously stated wishes not to be contacted ’. However, our argument is that the egg donor was never asked whether or not she was happy to be contacted in the circumstances that have now arisen. Thus, there is no consent to be overridden, given that she never gave or withheld it in the first place. Frith rightly acknowledges that her arguments therefore ‘ [do] not fully address [our] main worry that the donor’s wishes are essentially unknown, as she was not asked about this specific situation and …. (shrink)

We thank Parker and Wright for engaging in this roundtable debate in such a spirited way. The ‘Pharmacogenetic [test] to Avoid Loss of Hearing’ Trial is the first time a genetic point of care test has been applied in the acute neonatal setting; therefore, it is not surprising that questions have been raised which require debate, discussion and clarification. Parker and Wright misattribute several assumptions to the roundtable authors, which we would like to clarify here. Since they raise wider questions (...) about the PALOH trial itself, several of the roundtable discussants have made a joint response. (shrink)

Clinical practice and research are governed by distinct rules and regulations and have different approaches to, for example, consent and providing results. However, genomics is an example of where research and clinical practice have become codependent. The 100 000 genomes project is a hybrid venture where a person can obtain a clinical investigation only if he or she agrees to also participate in ongoing research—including research by industry and commercial companies. In this paper, which draws on 20 interviews with professional (...) stakeholders involved in 100kGP, we investigate the ethical issues raised by this project’s hybrid nature. While some interviewees thought the hybrid nature of 100kGP was its vanguard, interviewees identified several tensions around hybrid practice: how to decide who should be able to participate; how to determine whether offering results might unduly influence participation into wide-ranging but often as yet unknown research and how to ensure that patients/families do not develop false expectations about receiving results. These areas require further debate as 100kGP moves into routine healthcare in the form of the national genomic medicine service. To address the tensions identified, we explore the appropriateness of Faden et al.’s framework of ethical obligations for when research and clinical care are completely integrated. We also argue that enabling ongoing transparent and trustworthy communication between patients/families and professionals around the kinds of research that should be permitted in 100kGP will help to understand and ensure that expectations remain realistic. Our paper aims to encourage a focused discussion about these issues and to inform a new ‘social contract’ for research and clinical care in the health service. (shrink)