Expanded carrier screening for autosomal recessive conditions in health care: Arguments for a couple-based approach and examination of couples' views.

BACKGROUND: Expanded carrier screening (ECS) is aimed at detecting carrier states for autosomal recessive (AR) or X-linked conditions in couples from the general population planning a pregnancy. ECS is currently usually offered on an individual basis despite the fact that, for AR conditions, only carrier couples are at risk of affected offspring. In this paper, we present a couple-based ECS test-offer for AR conditions, where results are offered as couple-results only, and describe how couples view such an offer. METHODS AND RESULTS: An online survey covering attitudes, perceived difficulty, and intention to take up couple-based ECS was used to examine couples' views. Results show that in 76% of the participating couples there is no objection at all towards receiving couple-results only. Most couples display similar views. Observed discrepancies usually involved one of the couple members having a positive view, whilst the other was neutral. Although views stayed strikingly stable after discussion, the partner's opinion was regarded as important in deciding whether or not to have testing. CONCLUSION: This study shows that most couples do not object to receiving couple rather than individual ECS results, have similar views towards the offer, and are able to discuss differences in views and intentions.

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.

PURPOSE: With rapid advances in genetic technologies, new genetic information becomes available much faster today than just a few years ago. This has raised questions about whether clinicians have a duty to recontact eligible patients when new genetic information becomes available and, if such duties exist, how they might be implemented in practice. METHODS: We report the results of a systematic literature search on the ethical, legal, social (including psychological), and practical issues involved in recontacting former patients who received genetic services. We identified 1,428 articles, of which 61 are covered in this review. RESULTS: The empirical evidence available indicates that most but not all patients value being recontacted. A minority of (older) articles conclude that recontacting should be a legal duty. Most authors consider recontacting to be ethically desirable but practically unfeasible. Various solutions to overcome these practical barriers have been proposed, involving efforts of laboratories, clinicians, and patients. CONCLUSION: To advance the discussion on implementing recontacting in clinical genetics, we suggest focusing on the question of in what situations recontacting might be regarded as good standard of care. To this end, reaching a professional consensus, obtaining more extensive empirical evidence, and developing professional guidelines are important.

Suffering in children: opinions from parents and health-care professionals.

UNLABELLED: Alleviation of suffering is considered to be one of the important goals of medical interventions. Understanding of what constitutes suffering in children admitted to a pediatric intensive care unit (PICU) is lacking. This study aims to assess perceptions by parents, doctors, and nurses of suffering in critically ill children. We interviewed 124 participants (parents, physicians, and PICU nurses) caring for 29 admitted children in a 20-bed level-III PICU and performed a qualitative analysis. We found that most participants made a distinction between physical and existential suffering. Parents considered the child's suffering caused by or associated with visible signs as discomfort. Nurses linked suffering to the child's state of comfort. Physicians linked them to the intensity and impact of treatment and future perspectives of the child. Various aspects of the child's suffering and admission to a PICU caused suffering in parents. CONCLUSION: Parents', physicians', and nurses' perceptions of suffering overlap but also show important differences. Differences found seem to be rooted in the relation to and kind of responsibility (parental/professional) for the child. The child's illness, suffering, and hospital admission cause suffering in parents. Health-care professionals in PICUs need to be aware of these phenomena.

Training healthcare professionals as moral case deliberation facilitators: evaluation of a Dutch training programme.

Until recently, moral case deliberation (MCD) sessions have mostly been facilitated by external experts, mainly professional ethicists. We have developed a train the facilitator programme for healthcare professionals aimed at providing them with the competences needed for being an MCD facilitator. In this paper, we present the first results of a study in which we evaluated the programme. We used a mixed methods design. One hundred and twenty trained healthcare professionals and five trainers from 16 training groups working in different healthcare organisations throughout the Netherlands were included. After completion of the programme, participants feel sufficiently confident and equipped to facilitate an MCD session. Feeling competent does not mean that participants have no doubts or questions left. Rather, they are aware of their limitations and see the need for continuous learning. According to the respondents, the actual exercise of facilitating MCD during and in between the training sessions contributed most to the development of competences necessary for being an MCD facilitator. Respondents without prior experience of participating in MCD sessions felt less competent after the training than those who had participated in MCD sessions before. Self-attributed competence varied between participants with different professional backgrounds.

Toward a naturalized clinical ethics.

Clinical ethicists tend to see themselves as moral experts to be called in when clinicians encounter a particularly difficult moral problem. Drawing on a naturalized moral epistemology, we argue that clinicians already have the moral knowledge they need-the norms and values that guide clinical practice are built right into the various health care professions. To reflect on their practice, clinicians need to (a) be aware of their own professional norms and values; (b) be able to express them to their colleagues, their patients, and the patients' families; and (c) work together with these other actors to provide ethically responsible care. The ethicist's job is to use her own training in three kinds of philosophical reflection as the basis for teaching clinicians how to think about what they do.

Parental experience at the end-of-life in children with cancer: 'preservation' and 'letting go' in relation to loss.

PURPOSE: For children with incurable cancer death usually is anticipated and preceded by a phase of palliative care. Despite recognition that parents have difficulty adapting to a palliative perspective there is little insight into this process. This study explored, from a parental perspective, the process parents go through when cure is no longer a possibility. PARTICIPANTS AND METHODS: A multicenter study using qualitative research was undertaken during the EoL phase. One-time and repeated open interviews were conducted with 44 parents of 23 children with incurable cancer. RESULTS: Feelings of loss play a prominent role during the EoL phase. Dealing with loss is a process of stepwise relinquishing that becomes manifest in an internal struggle between preservation and letting go. Preservation means that parents try to maintain the child's status quo. Letting go means parents give up their resistance to loss in service of their child's well-being. Although the relative measure of each changes over time, parents have great difficulty making the transition because it implies a change in source of control. A timely completion of this transition positively influences the child's well-being as well as the evaluation of enacted parenthood. CONCLUSION: For parents the essence of the palliative process is not to accept death but to deal with the loss of their child. Although the need to avoid loss and gain control by means of preservation is fully understandable, the study indicated that parents who made the transition to letting go had an increased receptiveness of their child's real situation and needs.

Development of a student rating scale to evaluate teachers' competencies for facilitating reflective learning.

CONTEXT: teaching students in reflection calls for specific teacher competencies. We developed and validated a rating scale focusing on Student perceptions of their Teachers' competencies to Encourage Reflective Learning in small Groups (STERLinG). METHODS: we applied an iterative procedure to reduce an initial list of 241 items pertaining to teacher competencies to 47 items. Subsequently, we validated the instrument in two successive studies. In the first study, we invited 679 medical and speech and language therapy students to assess the teachers of their professional development groups with the STERLinG. Principal components analysis (PCA) with varimax rotation was used to investigate the internal structure of the instrument. In the second study, which involved 791 medical, dental, and speech and language therapy students, we performed a confirmatory factor analysis using the oblique multiple group (OMG) method to verify the original structure. RESULTS: in Study 1, 463 students (68%) completed the STERLinG. The PCA yielded three components: Supporting self-insight; Creating a safe environment, and Encouraging self-regulation. The final 36-item instrument explained 44.3% of the variance and displayed high reliability with α-values of 0.95 for the scale, and 0.91, 0.86 and 0.86 for the respective subscales. In Study 2, 501 students (63%) completed the STERLinG. The OMG confirmed the original structure of the STERLinG and explained 53.0% of the total variance with high α-values of 0.96 for the scale, and 0.94, 0.90 and 0.90 for the respective subscales. CONCLUSIONS: the STERLinG is a practical and valid tool for gathering student perceptions of their teachers' competencies to facilitate reflective learning in small groups considering its stable structure, the correspondence of the STERLinG structure with educational theories and the coverage of important domains of reflection. In addition, our study may provide a theoretical framework for the practice of and research into reflective learning.

Theoretical resources for a globalised bioethics.

In an age of global capitalism, pandemics, far-flung biobanks, multinational drug trials and telemedicine it is impossible for bioethicists to ignore the global dimensions of their field. However, if they are to do good work on the issues that globalisation requires of them, they need theoretical resources that are up to the task. This paper identifies four distinct understandings of 'globalised' in the bioethics literature: (1) a focus on global issues; (2) an attempt to develop a universal ethical theory that can transcend cultural differences; (3) an awareness of how bioethics itself has expanded, with new centres and journals emerging in nearly every corner of the globe; (4) a concern to avoid cultural imperialism in encounters with other societies. Each of these approaches to globalisation has some merit, as will be shown. The difficulty with them is that the standard theoretical tools on which they rely are not designed for cross-cultural ethical reflection. As a result, they leave important considerations hidden. A set of theoretical resources is proposed to deal with the moral puzzles of globalisation. Abandoning idealised moral theory, a normative framework is developed that is sensitive enough to account for differences without losing the broader context in which ethical issues arise. An empirically nourished, self-reflexive, socially inquisitive, politically critical and inclusive ethics allows bioethicists the flexibility they need to pick up on the morally relevant particulars of this situation here without losing sight of the broader cultural contexts in which it all takes place.

Qualitative study of GPs' views and experiences of population-based preconception expanded carrier screening in the Netherlands: bioethical perspectives.

OBJECTIVE: Between 2016 and 2017, a population-based preconception expanded carrier screening (PECS) test was developed in the Netherlands during a pilot study. It was subsequently made possible in mid-2018 for couples to ask to have such a PECS test from specially trained general practitioners (GPs). Research has described GPs as crucial in offering PECS tests, but little is known about the GPs' views on PECS and their experiences of providing this test. This article presents a thematic analysis of the PECS practice from the perspective of GPs and a bioethical discussion of the empirical results. DESIGN: Empirical bioethics. A thematic analysis of qualitative semi-structured interviews was conducted, and is combined with an ethical/philosophical discussion. SETTING: The Netherlands. PARTICIPANTS: 7 Dutch GPs in the Netherlands, interviewed in 2019-2020. RESULTS: Two themes were identified in the thematic analysis: 'Choice and its complexity' and 'PECS as prompting existential concerns'. The empirical bioethics discussion showed that the first theme highlights that several areas coshape the complexity of choice on PECS, and the need for shared relational autonomous decision-making on these areas within the couple. The second theme highlights that it is not possible to analyse the existential issues raised by PECS solely on the level of the couple or family. A societal level must be included, since these levels affect each other. We refer to this as 'entangled existential genetics'. CONCLUSION: The empirical bioethical analysis leads us to present two practical implications. These are: (1) training of GPs who are to offer PECS should cover shared relational autonomous decision-making within the couple and (2) more attention should be given to existential issues evoked by genetic considerations, also during the education of GPs and in bioethical discussions around PECS.

Making sense of risk. Donor risk communication in families considering living liver donation to a child.

This paper contributes to the growing line of thought in bioethics that respect for autonomy should not be equated to the facilitation of individualistic self determination through standard requirements of informed consent in all healthcare contexts. The paper describes how in the context of donation for living related liver transplantation (LRLT) meaningful, responsible decision making is often embedded within family processes and its negotiation. We suggest that good donor risk communication in families promote "conscientious autonomy" and "reflective trust". From this, the paper offers the suggestion that transplant teams and other relevant professionals have to broaden their role and responsibility for risk communication beyond proper disclosure by addressing the impact of varied psychosocial conditions on risk interpretation and assessment for potential donors and family stakeholders. In conclusion, we suggest further research questions on how professional responsibility and role-taking in risk communication should be morally understood.

GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?

Next generation sequencing has enabled fast and relatively inexpensive expanded carrier screening (ECS) that can inform couples' reproductive decisions before conception and during pregnancy. We previously showed that a couple-based approach to ECS for autosomal recessive (AR) conditions was acceptable and feasible for both health care professionals and the non-pregnant target population in the Netherlands. This paper describes the acceptance of this free test-offer of preconception ECS for 50 severe conditions, the characteristics of test-offer acceptors and decliners, their views on couple-based ECS and reasons for accepting or declining the test-offer. We used a survey that included self-rated health, intention to accept the test-offer, barriers to test-participation and arguments for and against test-participation. Fifteen percent of the expected target population-couples potentially planning a pregnancy-attended pre-test counselling and 90% of these couples proceeded with testing. Test-offer acceptors and decliners differed in their reproductive characteristics (e.g. how soon they wanted to conceive), educational level and stated barriers to test-participation. Sparing a child a life with a severe genetic condition was the most important reason to accept ECS. The most important reason for declining was that the test-result would not affect participants' reproductive decisions. Our results demonstrate that previously uninformed couples of reproductive age, albeit a selective part, were interested in and chose to have couple-based ECS. Alleviating practical barriers, which prevented some interested couples from participating, is recommended before nationwide implementation.

The role of peer meetings for professional development in health science education: a qualitative analysis of reflective essays.

INTRODUCTION: The development of professional behaviour is an important objective for students in Health Sciences, with reflective skills being a basic condition for this development. Literature describes a variety of methods giving students opportunities and encouragement for reflection. Although the literature states that learning and working together in peer meetings fosters reflection, these findings are based on experienced professionals. We do not know whether participation in peer meetings also makes a positive contribution to the learning experiences of undergraduate students in terms of reflection. AIM: The aim of this study is to gain an understanding of the role of peer meetings in students' learning experiences regarding reflection. METHOD: A phenomenographic qualitative study was undertaken. Students' learning experiences in peer meetings were analyzed by investigating the learning reports in students' portfolios. Data were coded using open coding. RESULTS: The results indicate that peer meetings created an interactive learning environment in which students learned about themselves, their skills and their abilities as novice professionals. Students also mentioned conditions for a well-functioning group. CONCLUSION: The findings indicate that peer meetings foster the development of reflection skills as part of professional behaviour.

Ending the life of a newborn: the Groningen Protocol.

Several criticisms of the Groningen Protocol rest on misunderstandings about how it works or which babies it concerns. Some other objections-about quality-of-life judgments and parents' role in making decisions about their children-cannot be easily cleared away, but at least in the context of Dutch culture and medicine, the protocol is acceptable.

A national guideline for palliative sedation in the Netherlands.

The first national guideline on palliative sedation in The Netherlands has been adopted by the General Board of the Royal Dutch Medical Association. By law, the physician is obliged to take this guideline into consideration. In this paper, we present the main principles of the guideline. Palliative sedation is defined as the intentional lowering of consciousness of a patient in the last phase of his or her life. The aim of palliative sedation is to relieve suffering, and lowering consciousness is a means to achieve this. The indication for palliative sedation is the presence of one or more refractory symptoms that lead to unbearable suffering for the patient. Palliative sedation is given to improve patient comfort. It is the degree of symptom control, not the level to which consciousness is lowered, which determines the dose and the combinations of the sedatives used and duration of treatment. Palliative sedation is normal medical practice and must be clearly distinguished from the termination of life.

Expanded carrier screening: what determines intended participation and can this be influenced by message framing and narrative information?

Next-generation sequencing enabled us to create a population-based expanded carrier screening (ECS) test that simultaneously tests for 50 serious autosomal recessive diseases. Before offering this test universally, we wanted to know what factors are related to intended participation and how the general public can be informed about the test without being influenced in their intention to participate. We studied this by measuring to what extent 'message framing' and 'narrative information' can influence people's intended participation. Data were collected by means of an online survey of 504 potential users, and the factors examined were based on the Theory of Planned Behaviour and on previous research on intended participation in preconception carrier screening. Message framing was manipulated by explaining the risk of couple carriership in different ways, while narrative information was provided to only half of the respondents. The factors most positively related to intended participation were perceiving benefits of the screening, having a positive attitude towards the screening, having no religion, having an actual child wish and experiencing the choice to participate as easy. Perceived benefits and a positive attitude were most influential factors by far. Message framing and narrative information had no significant effect on intended participation, reinforcing that message framing and narrative information can help to inform the general public about ECS without influencing their intended participation. Future research should study if the importance of perceived benefits and a positive attitude can be replicated when other factors are included and when actual participation is measured instead of intended participation.

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.

With the increased international focus on personalized health care and preventive medicine, next-generation sequencing (NGS) has substantially expanded the options for carrier screening of serious, recessively inherited diseases. NGS screening tests not only offer reproductive options not previously available to couples, but they may also ultimately reduce the number of children born with devastating disorders. To date, preconception carrier screening (PCS) has largely targeted single diseases such as cystic fibrosis, but NGS allows the testing of many genes or diseases simultaneously. We have developed an expanded NGS PCS test for couples; simultaneously it covers 50 very serious, early-onset, autosomal recessive diseases that are untreatable. This is the first, noncommercial, population-based, expanded PCS test to be offered prospectively to couples in a health-care setting in Europe. So far, little is known about how potential users view such a PCS test. We therefore performed an online survey in 2014 among 500 people from the target population in the Netherlands. We enquired about their intention to take an expanded PCS test if one was offered, and through which provider they would like to see it offered. One-third of the respondents said they would take such a test were it to be offered. The majority (44%) preferred the test to be offered via their general practitioner (GP) and 58% would be willing to pay for the test, with a median cost of [euro ]75. Our next step is to perform an implementation study in which this PCS test will be provided via selected GPs in the Northern Netherlands.

Maximising the efficiency of clinical screening programmes: balancing predictive genetic testing with a right not to know.

We explored the dilemma between patients' right not to know their genetic status and the efficient use of health-care resources in the form of clinical cancer screening programmes. Currently, in the Netherlands, 50% risk carriers of heritable cancer syndromes who choose not to know their genetic status have access to the same screening programmes as proven mutation carriers. This implies an inefficient use of health-care resources, because half of this group will not carry the familial mutation. At the moment, only a small number of patients are involved; however, the expanding possibilities for genetic risk profiling means this issue must be addressed because of potentially adverse societal and financial impact. The trade-off between patients' right not to know their genetic status and efficient use of health-care resources was discussed in six focus groups with health-care professionals and patients from three Dutch university hospitals. Professionals prefer patients to undergo a predictive DNA test as a prerequisite for entering cancer screening programmes. Professionals prioritise treating sick patients or proven mutation carriers over screening untested individuals. Participation in cancer screening programmes without prior DNA testing is, however, supported by most professionals, as testing is usually delayed and relatively few patients are involved at present. Reducing the number of 50% risk carriers undergoing screening is expected to be achieved by: offering more psychosocial support, explaining the iatrogenic risks of cancer screening, increasing out-of-pocket costs, and offering a less stringent screening programme for 50% risk carriers.

Enhancing reflection: an interpersonal exercise in ethics education.

There are no moral cookbooks--no algorithms for whipping up moral confections to suit every occasion. But more modest and flexible tools might still be useful for practical ethics. One team describes how professionals can be taught to use a framework for understanding moral problems.

[Mental competence and long term care: an uncomfortable relationship]. / Wilsbekwaamheid en verpleeghuiszorg: een ongemakkelijke verhouding.

Competency is an important concept in medical ethics as well as in law. It refers to the moral principles of self-determination and autonomy, which are of central importance in the ethics of health care. These moral principles also prevail in nursing home care. Societal prejudice concerning nursing home patients suggests that the inhabitants of a nursing home are almost by definition incompetent. We assert that such prejudice rests on certain societal delusions and misinterpretations of incompetency five of which are subsequently analysed. Next we discuss the dominant conception of competency in terms of decisional capacity. This conception is predominantly oriented towards cognitive abilities and underplays affective capacities. We confront this dominant conception with an alternative proposal of competency in terms of 'the capacity to value', which--to our opinion--more properly reflects nursing home practice concerning questions of competency. Finally we address the limitations of any concept of competency or decisional capacity in relation to the moral issues of 'good care' for demented elderly. As an alternative we draw attention to the moral perspective of the 'ethics of care'.