Clinical geneticists' views on and experiences with unsolicited findings in next-generation sequencing: "A great technology creating new dilemmas".

Unsolicited findings (UFs) from diagnostic genetic testing are a subject of debate. The emerging consensus is that some UFs from genetic testing should be disclosed, but recommendations on UF disclosure generally leave room for variation in practice. This study aimed to explore clinical geneticists' views on and experiences with UFs during pretest counseling and UF disclosure. We interviewed 20 certified clinical genetics medical specialists and clinical genetics residents, working in 7 Dutch genetic centers. Participants indicated that discussing the probability of detecting UFs is an integral part of pretest counseling and informed consent. However, they expressed doubts about the degree to which this discussion should occur and about what information they should share with patients. They argued that the contents of their counseling should depend on the individual patient's capacity to understand information. These results endorse the importance of tailored pretest counseling alongside informed consent for optimal genetic consultations. While "medical actionability" is broadly accepted as an important criterion for the disclosure of UFs, participants experienced substantial uncertainty regarding this concept. This study underscores the need for further demarcation of what exactly constitutes medical actionability. Installation of an expert panel to help healthcare professionals decide what variants to disclose will support them when facing the dilemmas presented by UFs.

Exploring professionals' views regarding prenatal counselling in congenital diaphragmatic hernia.

OBJECTIVES: Congenital diaphragmatic hernia (CDH) is a congenital malformation in which the diaphragm and lungs are underdeveloped, leading to cardiorespiratory and other problems. This study aimed to explore professionals' views regarding prenatal counselling in CDH. METHODS: A qualitative study was performed among healthcare professionals involved in the care of CDH patients in Radboud university medical center Amalia Children's Hospital. Semi-structured interviews were conducted until saturation was achieved. Transcripts were qualitatively analysed to gain insight into professionals' views regarding counselling. RESULTS: Eighteen professionals with various backgrounds were included. The professionals agreed that the first counselling session should be soon after diagnosis and additional sessions should be offered. Concerning counselling content, participants considered explanation of the diagnosis, prognosis, short- and long-term consequences, treatment options and practical aspects important. As for decision-making about possible termination of pregnancy, all professionals emphasised the importance of the parental role, but the preferred parental involvement varied. Regarding practical aspects, preferred counsellors were a neonatologist, obstetrician, paediatric surgeon and/or medical social worker. Participants emphasised that the counselling should be adjusted to parents' needs. CONCLUSIONS: This study gained insight into professionals' views regarding the timeline, content, decision-making process, and practical aspects of prenatal counselling in CDH.

Why we prescribe antibiotics for too long in the hospital setting: a systematic scoping review.

BACKGROUND: In daily hospital practice, antibiotic therapy is commonly prescribed for longer than recommended in guidelines. Understanding the key drivers of prescribing behaviour is crucial to generate meaningful interventions to bridge this evidence-to-practice gap. OBJECTIVES: To identify behavioural determinants that might prevent or enable improvements in duration of antibiotic therapy in daily practice. METHODS: We systematically searched PubMed, Embase, PsycINFO and Web of Science for relevant studies that were published between January 2000 and August 2021. All qualitative, quantitative and mixed-method studies in adults in a hospital setting that reported determinants of antibiotic therapy duration were included. RESULTS: Twenty-two papers were included in this review. A first set of studies provided 82 behavioural determinants that shape how health professionals make decisions about duration; most of these were related to individual health professionals' knowledge, skills and cognitions, and to professionals' interactions. A second set of studies provided 17 determinants that point to differences in duration regarding various pathogens, diseases, or patient, professional or hospital department characteristics, but do not explain why or how these differences occur. CONCLUSIONS: Limited literature is available describing a wide range of determinants that influence duration of antibiotic therapy in daily practice. This review provides a stepping stone for the development of stewardship interventions to optimize antibiotic therapy duration, but more research is warranted. Stewardship teams must develop complex improvement interventions to address the wide variety of behavioural determinants, adapted to the specific pathogen, disease, patient, professional and/or hospital department involved.

Primary prevention of ovarian cancer: a patient decision aid for opportunistic salpingectomy.

BACKGROUND: The discovery of the fallopian tube epithelium as the origin of high-grade serous ovarian cancer has brought a new option for ovarian cancer prevention. The fallopian tubes have no known function after completion of childbearing and can be removed to reduce the lifetime risk of ovarian cancer. Although the lifetime risk in the general population does not justify preventive surgery in itself, salpingectomy can be performed during abdominal surgery for other indications, also known as an opportunistic salpingectomy. The popularity of opportunistic salpingectomy is increasing worldwide; however, the variation between gynecologists and hospitals in their advice on opportunistic salpingectomy occurs because of the remaining uncertainty of evidence. Therefore, whether a woman can make her own decision depends on the hospital or gynecologist she visits. We aimed to lower this practice variation by providing standardized and unbiased counseling material. OBJECTIVE: We aimed to develop and test a patient decision aid for opportunistic salpingectomy in women undergoing pelvic gynecologic surgery to either retain the ovaries or opt for sterilization. STUDY DESIGN: We followed a systematic development process based on the International Patient Decision Aid Standards. Data were collected between June 2019 and June 2020, using both qualitative and quantitative methods. The development process that occurred in collaboration with patients and healthcare professionals was overseen by a multidisciplinary steering group and was divided into 4 phases: (1) assessment of decisional needs using individual telephone interviews and questionnaires; (2) development of content and format based on decisional needs, current literature, and guidelines; (3) alpha testing and the first revision round; and (4) alpha testing and the second revision round. RESULTS: An outline of the patient decision aid was developed on the basis of decisional needs, current literature, and guidelines. It became clear that the decision aid should consist of 2 separate paths: one with information specifically for salpingectomy in addition to abdominal surgery and one for salpingectomy as a sterilization method. Both paths contained information on the anatomy and function of ovaries and fallopian tubes, risk reduction of ovarian cancer, and potential benefits and risks of opportunistic salpingectomy. Moreover, the sterilization path contains information on various sterilization methods and risks of unwanted pregnancy. The patient decision aid was developed as an online tool that includes information chapters, a knowledge quiz, consideration statements, and a summary detailing the patient's preferences and considerations. Adjustments were made following alpha testing round 1. The improved patient decision aid was subjected to usability tests (alpha testing round 2), in which it scored an "excellent" in tests with patients and a "good" in tests with gynecologists. Furthermore, our patient decision aid met the requirements of 45 of 49 applicable items from the International Patient Decision Aid Standards criteria. CONCLUSION: In collaboration with patients and healthcare professionals, a patient decision aid was developed on opportunistic salpingectomy and salpingectomy as a sterilization method. Both patients and gynecologists believed it is a useful tool that supports patients in making an informed decision whether to undergo an opportunistic salpingectomy and supports the counseling process by gynecologists.

Impact of incidental findings on young adult participants in brain imaging research: an interview study.

OBJECTIVES: The current study aims to investigate young adult research participants' experiences with and preferences regarding the disclosure of MRI incidental findings (IFs) in brain imaging research, and to elucidate the impact and long-term effects of IF disclosure on these participants. METHODS: We conducted 11 semi-structured interviews with 10 research participants to whom an IF was disclosed after they participated in brain MRI research at the Donders Institute, Centre for Cognitive Neuroimaging (DCCN) in the Netherlands. Interview transcripts were analyzed using the constant comparative method. RESULTS: The analysis yielded five themes regarding the impact of IF disclosure: the initial shock of disclosure, a period of uncertainty, results of the follow-up examination, long-term impact, and participants' biomedical background. Participants were primarily impacted by the uncertainty in the period immediately following IF disclosure. For our participants, disclosure has had no health benefits and some, albeit mostly temporary and limited, negative impact. CONCLUSIONS: Our study suggests that it is important to carefully consider IF disclosure in a population of young healthy participants and emphasizes the relevance of systematic, large-scale follow-up studies to monitor risks and benefits of IF disclosure in this population. The insights from this study can be of added value to improve current research procedures or frameworks for the management and disclosure of IFs in imaging studies. KEY POINTS: • Participants were primarily impacted by the uncertainty in the period immediately following IF disclosure. • Our study suggests that it is important to carefully consider IF disclosure in a population of healthy young adult participants. • Our study emphasizes the relevance of systematic, large-scale follow-up studies to monitor the risks and benefits of IF disclosure in this population.

Longing for homelikeness: A hermeneutic phenomenological analysis of patients' lived experiences in recovery from COVID-19-associated intensive care unit acquired weakness.

AIMS: To explore lived experiences of patients recovering from COVID-19-associated intensive care unit acquired weakness and to provide phenomenological descriptions of their recovery. DESIGN: A qualitative study following hermeneutic phenomenology. METHODS: Through purposeful sampling, 13 participants with COVID-19-associated intensive care unit acquired weakness were recruited with diversity in age, sex, duration of hospitalization and severity of muscle weakness. Semi-structured in-depth interviews were conducted from 4 to 8 months after hospital discharge, between July 2020 and January 2021. Interviews were transcribed verbatim and analysed using hermeneutic phenomenological analysis. RESULTS: The analysis yielded five themes: 'waking up in alienation', 'valuing human contact in isolation', 'making progress by being challenged', 'coming home but still recovering' and 'finding a new balance'. The phenomenological descriptions reflect a recovery process that does not follow a linear build-up, but comes with moments of success, setbacks, trying new steps and breakthrough moments of achieving mobilizing milestones. CONCLUSION: Recovery from COVID-19-associated intensive care unit acquired weakness starts from a situation of alienation. Patients long for familiarity, for security and for recognition. Patients want to return to the familiar situation, back to the old, balanced, bodily self. It seems possible for patients to feel homelike again, not only by changing their outer circumstances but also by changing the understanding of themselves and finding a new balance in the altered situation. IMPACT: Muscle weakness impacts many different aspects of ICU recovery in critically ill patients with COVID-19-associated intensive care unit acquired weakness. Their narratives can help nurses and other healthcare professionals, both inside and outside of the intensive care unit, to empathize with patient experiences. When healthcare professionals connect to the lifeworld of patients, they will start to act and communicate differently. These insights could lead to optimized care delivery and meeting patients' needs in this pandemic or a possible next.

Quality Indicators for Appropriate Outpatient Parenteral Antimicrobial Therapy in Adults: A Systematic Review and RAND-modified Delphi Procedure.

BACKGROUND: Our aim in this study was to develop quality indicators (QIs) for outpatient parenteral antimicrobial therapy (OPAT) care that can be used as metrics for quality assessment and improvement. METHODS: A RAND-modified Delphi procedure was used to develop a set of QIs. Recommendations on appropriate OPAT care in adults were retrieved from the literature using a systematic review and translated into potential QIs. These QIs were appraised and prioritized by a multidisciplinary panel of international OPAT experts in 2 questionnaire rounds combined with a meeting between rounds. RESULTS: The procedure resulted in 33 OPAT-specific recommendations. The following QIs that describe recommended OPAT care were prioritized by the expert panel: the presence of a structured OPAT program, a formal OPAT care team, a policy on patient selection criteria, and a treatment and monitoring plan; assessment for OPAT should be performed by the OPAT team; patients and family should be informed about OPAT; there should be a mechanism in place for urgent discussion and review of emergent clinical problems, and a system in place for rapid communication; laboratory results should be delivered to physicians within 24 hours; and the OPAT team should document clinical response to antimicrobial management, document adverse events, and monitor QIs for OPAT care and make these data available. CONCLUSIONS: We systematically developed a set of 33 QIs for optimal OPAT care, of which 12 were prioritized by the expert panel. These QIs can be used to assess and improve the quality of care provided by OPAT teams.

How the logics of the market, bureaucracy, professionalism and care are reconciled in practice: an empirical ethics approach.

BACKGROUND: In the Netherlands, the for-profit sector has gained a substantial share of nursing home care within just a few years. The ethical question that arises from the growth of for-profit care is whether the market logic can be reconciled with the provision of healthcare. This question relates to the debate on the Moral Limits of Markets (MLM) and commodification of care. METHODS: The contribution of this study is twofold. Firstly, we construct a theoretical framework from existing literature; this theoretical framework differentiates four logics: the market, bureaucracy, professionalism, and care. Secondly, we follow an empirical ethics approach; we used three for-profit nursing homes as case studies and conducted qualitative interviews with various stakeholders. RESULTS: Four main insights emerge from our empirical study. Firstly, there are many aspects of the care relationship (e.g. care environment, personal relationships, management) and every aspect of the relationship should be considered because the four logics are reconciled differently for each aspect. The environment and conditions of for-profit nursing homes are especially commodified. Secondly, for-profit nursing homes pursue a different professional logic from the traditional, non-profit sector - one which is inspired by the logic of care and which contrasts with bureaucratic logic. However, insofar as professionals in for-profit homes are primarily responsive to residents' wishes, the market logic also prevails. Thirdly, a multilevel approach is necessary to study the MLM in the care sector since the degree of commodification differs by level. Lastly, it is difficult for the market to engineer social cohesion among the residents of nursing homes. CONCLUSIONS: The for-profit nursing home sector does embrace the logic of the market but reconciles it with other logics (i.e. logic of care and logic of professionalism). Importantly, for-profit nursing homes have created an environment in which care professionals can provide person-oriented care, thereby reconciling the logic of the market with the logic of care.

A systematic approach to develop a core set of parameters for boards of directors to govern quality of care in the ICU.

OBJECTIVE: Hospital boards are legally responsible for the quality of care delivered by healthcare professionals in their hospitals, but experience difficulties in overseeing quality and safety risks. This study aimed to select a core set of parameters for boards to govern quality of care in the intensive care unit (ICU). DESIGN: Two-round Delphi study. SETTING: Two university hospitals in the Netherlands. PARTICIPANTS: An expert panel of 12 former ICU patients or their family members, 12 ICU nurses, 12 ICU physicians and 12 members of boards of directors and quality managers. MAIN OUTCOME MEASURES: Participants indicated the relevance of existing parameters for assessing the quality of ICU care for governance purposes (round 1) and selected 10 quality parameters that together provide boards of directors with a good representation of quality of care in their ICU (round 2). RESULTS: We identified 122 quality parameters related to care in the ICU, which we limited to a short list to present to participants in round 1. The response rate was 94% in round 1 and 85% in round 2. The final set consisted of the 10 most frequently selected quality parameters per hospital. Five parameters were included in both sets; all related to patient safety and continuous quality improvement. CONCLUSIONS: Parameters in the core set were mostly qualitative and generic, rather than quantitative and ICU-specific in nature. To engage in a true dialog about quality of care, boards are more interested in the story behind the numbers than in just the numbers themselves.

Rationing in the intensive care unit in case of full bed occupancy: a survey among intensive care unit physicians.

BACKGROUND: Internationally, there is no consensus on how to best deal with admission requests in cases of full ICU bed occupancy. Knowledge about the degree of dissension and insight into the reasons for this dissension is lacking. Information about the opinion of ICU physicians can be used to improve decision-making regarding allocation of ICU resources. The aim of this study was to: Assess which factors play a role in the decision-making process regarding the admission of ICU patients; Assess the adherence to a Dutch guideline pertaining to rationing of ICU resources; Investigate factors influencing the adherence to this guideline. METHODS: In March 2013, an online questionnaire was sent to all ICU physician members (n = 761, in 90 hospitals) of the Dutch Society for Intensive Care. RESULTS: 166 physicians (21.8 %) working in 64 different Dutch hospitals (71.1 %) completed the questionnaire. Factors associated with a patient's physical condition and quality of life were generally considered most important in admission decisions. Scenario-based adherence to the Dutch guideline "Admission request in case of full ICU bed occupancy" was found to be low (adherence rate 50.0 %). There were two main reasons for this poor compliance: unfamiliarity with the guideline and disagreement with the fundamental approach underlying the guideline. CONCLUSIONS: Dutch ICU physicians disagree about how to deal with admission requests in cases of full ICU bed occupancy. The results of this study contribute to the discussion about the fundamental principles regarding admission of ICU patients in case of full bed occupancy.

Ethical problems in intensive care unit admission and discharge decisions: a qualitative study among physicians and nurses in the Netherlands.

BACKGROUND: There have been few empirical studies into what non-medical factors influence physicians and nurses when deciding about admission and discharge of ICU patients. Information about the attitudes of healthcare professionals about this process can be used to improve decision-making about resource allocation in intensive care. To provide insight into ethical problems that influence the ICU admission and discharge process, we aimed to identify and explore ethical dilemmas healthcare professionals are faced with. METHODS: This was an explorative, descriptive study using qualitative methods (individual and focus group interviews). We conducted 19 individual interviews and 4 focus group interviews with nurses and physicians working in the ICU or the general ward of 10 Dutch hospitals. RESULTS: The ethical problems in the context of ICU admission and discharge can be divided into problems concerning full bed occupancy and problems related to treatment decisions. The gap between the high level of care the ICU can provide and the lower care level in the general ward sometimes leads to mutual misunderstandings. Our results indicate that when professionals of different wards feel there is a collective responsibility and effort to solve a problem, this helps to prevent or alleviate moral distress. ICU patients' wishes are often unknown, causing healthcare professionals to err on the side of more treatment. Additionally, the highly technological nature of intensive care appears to encourage over-treatment. CONCLUSIONS: It is important for ICUs and general wards to communicate and cooperate well, since there is a mutual dependency for optimal patient flow between the different departments. Interventions that improve the understanding and cooperation between these wards may help mitigate ethical problems. The nature of the ICU environment makes it important for healthcare professionals to be aware of the risk of over-treatment, reflect on why they do what they do, and be mindful of a possible negative impact of over-treatment on their patients. Early discussion of a patient's wishes with regard to treatment options is important in preventing over-treatment.

[Righteous fertility care for transgender persons]. / Rechtvaardige fertiliteitszorg voor transgender personen.

Medically assisted reproduction for transgender individuals has been a subject of discussion and debate. While the primary focus used to be whether transgender individuals should have access to assisted reproduction at all, the question has now shifted to what constitutes just access to assisted reproduction for transgender people. It is instructive to compare their access to this care with that of cisgender heterosexual individuals and to critically reflect on the cis- and heteronormative context in which this care takes place. To establish just fertility care for transgender individuals, it is essential to dismantle the barriers imposed by these norms.

Exploring uncertainties regarding unsolicited findings in genetic testing.

OBJECTIVES: Non-normative uncertainty (uncertainty about empirical facts) and normative uncertainty (uncertainty about moral values or beliefs) regarding unsolicited findings (UFs) might play an important role in clinical genetics. Identifying normative uncertainty is of special interest since it might guide towards novel directions for counseling practice. This study aims to gain insight into the role of non-normative and normative uncertainty regarding UFs, as expressed by counselees and counselors. METHODS: We performed a secondary qualitative analysis of interviews with counselees (n = 20) and counselors (n = 20) who had been confronted with UFs. Following a deductive approach, we used Han et al.'s existing theoretical framework of uncertainty, in which we additionally incorporated normative uncertainty. RESULTS: Major issues of non-normative uncertainty were practical and personal for counselees, whilst counselors' uncertainty pertained mainly to scientific issues. Normative uncertainty was a major theme throughout the interviews. We encountered the moral conflicts of autonomy vs. beneficence and non-maleficence and of autonomy vs. truthfulness. CONCLUSION: Non-normative uncertainty regarding UFs highlights the need to gain more insight in their penetrance and clinical utility. This study suggests moral conflicts are a major source of feelings of uncertainty in clinical genetics. PRACTICE IMPLICATIONS: Exploring counselees' non-normative uncertainties and normative conflicts seems a prerequisite to optimize genetic counseling.

Putting ICU triage guidelines into practice: A simulation study using observations and interviews.

BACKGROUND: The COVID-19 pandemic has prompted many countries to formulate guidelines on how to deal with a worst-case scenario in which the number of patients needing intensive care unit (ICU) care exceeds the number of available beds. This study aims to explore the experiences of triage teams when triaging fictitious patients with the Dutch triage guidelines. It provides an overview of the factors that influence decision-making when performing ICU triage with triage guidelines. METHODS: Eight triage teams from four hospitals were given files of fictitious patients needing intensive care and instructed to triage these patients. Sessions were observed and audio-recorded. Four focus group interviews with triage team members were held to reflect on the sessions and the Dutch guidelines. The results were analyzed by inductive content analysis. RESULTS: The Dutch triage guidelines were the main basis for making triage decisions. However, some teams also allowed their own considerations (outside of the guidelines) to play a role when making triage decisions, for example to help avoid using non-medical criteria such as prioritization based on age group. Group processes also played a role in decision-making: triage choices can be influenced by the triagists' opinion on the guidelines and the carefulness with which they are applied. Intensivists, being most experienced in prognostication of critical illness, often had the most decisive role during triage sessions. CONCLUSIONS: Using the Dutch triage guidelines is feasible, but there were some inconsistencies in prioritization between teams that may be undesirable. ICU triage guideline writers should consider which aspects of their criteria might, when applied in practice, lead to inconsistencies or ethically questionable prioritization of patients. Practical training of triage team members in applying the guidelines, including explanation of the rationale underlying the triage criteria, might improve the willingness and ability of triage teams to follow the guidelines closely.

Decision-making regarding antibiotic therapy duration: An observational study of multidisciplinary meetings in the intensive care unit.

PURPOSE: Antibiotic therapy is commonly prescribed longer than recommended in intensive care patients (ICU). We aimed to provide insight into the decision-making process on antibiotic therapy duration in the ICU. METHODS: A qualitative study was conducted, involving direct observations of antibiotic decision-making during multidisciplinary meetings in four Dutch ICUs. The study used an observation guide, audio recordings, and detailed field notes to gather information about the discussions on antibiotic therapy duration. We described the participants' roles in the decision-making process and focused on arguments contributing to decision-making. RESULTS: We observed 121 discussions on antibiotic therapy duration in sixty multidisciplinary meetings. 24.8% of discussions led to a decision to stop antibiotics immediately. In 37.2%, a prospective stop date was determined. Arguments for decisions were most often brought forward by intensivists (35.5%) and clinical microbiologists (22.3%). In 28.9% of discussions, multiple healthcare professionals participated equally in the decision. We identified 13 main argument categories. While intensivists mostly used arguments based on clinical status, clinical microbiologists used diagnostic results in the discussion. CONCLUSIONS: Multidisciplinary decision-making regarding the duration of antibiotic therapy is a complex but valuable process, involving different healthcare professionals, using a variety of argument-types to determine the duration of antibiotic therapy. To optimize the decision-making process, structured discussions, involvement of relevant specialties, and clear communication and documentation of the antibiotic plan are recommended.

Uncertainty in complex healthcare settings - The need for a comprehensive approach.

Uncertainty is increasingly recognized as a crucial phenomenon throughout medical practice. Research on uncertainty so far has been scattered across disciplines, leading to a lack of consensus about what uncertainty represents and minimal integration of knowledge obtained within isolated disciplines. Currently, a comprehensive view of uncertainty which does justice to normatively or interactionally challenging healthcare settings is lacking. This impedes research teasing apart when and how uncertainty manifests, how all stakeholders experience and value it, and how it affects medical communication and decision-making. In this paper, we argue that we need a more integrated understanding of uncertainty. We illustrate our argument using the context of adolescent transgender care, in which uncertainty occurs in myriad ways. We first sketch how theories of uncertainty have emerged from isolated disciplines, leading to a lack of conceptual integration. Subsequently, we emphasize why it is problematic that no comprehensive approach to uncertainty has yet been developed, using examples from adolescent transgender care. Finally, we advocate an integrated approach of uncertainty to further advance empirical research and to ultimately benefit clinical practice.

Posterior Tibial Nerve Stimulation in Children with Lower Urinary Tract Dysfunction: A Mixed-Methods Analysis of Experiences, Quality of Life and Treatment Effect.

BACKGROUND: Posterior tibial nerve stimulation (PTNS) is one of the treatment modalities for children with therapy-refractory lower urinary tract dysfunction (LUTD). This study used a mixed-methods analysis to gain insight into the experiences of children treated with PTNS and their parents, the effect of treatment on quality of life (QOL) and the effect of PTNS on urinary symptoms. METHODS: Quantitative outcomes were assessed through a single-centre retrospective chart analysis of all children treated with PTNS in a group setting between 2016-2021. Voiding parameters and QOL scores before and after treatment were compared. Qualitative outcomes were assessed by an explorative study involving semi-structured interviews transcribed verbatim and inductively analysed using the constant-comparative method. RESULTS: The data of 101 children treated with PTNS were analysed. Overall improvement of LUTD was seen in 42% and complete resolution in 10%. Average and maximum voided volumes significantly increased. QOL improved in both parents and children independent of the actual effect on urinary symptoms. Interviews revealed PTNS to be well-tolerated. Facilitating PTNS in a group setting led to feelings of recognition in both children and parents. CONCLUSIONS: PTNS is a good treatment in children with therapy-refractory LUTD and provides valuable opportunities for peer support if given in a group setting.

Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individuals.

Unsolicited findings (UFs) are uncovered unintentionally and predispose to a disease unrelated to the clinical question. The frequency and nature of UFs uncovered in clinical practice remain largely unexplored. We here evaluated UFs identified during a 5-year period in which 16,482 index patients received clinical whole-exome sequencing (WES). UFs were identified in 0.58% (95/16,482) of index patients, indicating that the overall frequency of UFs in clinical WES is low. Fewer UFs were identified using restricted disease-gene panels (0.03%) than when using whole-exome/Mendeliome analysis (1.03%). The UF was disclosed to 86 of 95 individuals, for reasons of medical actionability. Only 61% of these UFs reside in a gene that is listed on the "ACMG59"-list, representing a list of 59 genes for which the American College of Medical Genetics recommends UF disclosure. The remaining 39% were grouped into four categories: disorders similar to "ACMG59"-listed disorders (25%); disorders for which disease manifestation could be influenced (7%); UFs providing reproductive options (2%); and UFs with pharmacogenetic implications (5%). Hence, our experience shows that UFs predisposing to medically actionable disorders affect a broader range of genes than listed on the "ACMG59", advocating that a pre-defined gene list is too restrictive, and that UFs may require ad hoc evaluation of medical actionability. While both the identification and disclosure of UFs depend on local policy, our lessons learned provide general essential insight into the nature and odds of UFs in clinical exome sequencing.

[Using pandemic guidelines in simulated triage sessions. Preliminary observations and lessons learned]. / Pandemiedraaiboeken in gesimuleerde triagesessies.

In Spring 2020, the Netherlands appeared to be poorly prepared for 'code black': a situation in which Intensive Care Unit (ICU) bed shortage would be a reality. Guidelines were developed with medical and non-medical considerations for ICU triage. In recent months, we organized eight simulated triage sessions in four hospitals, as part of a research project. We asked triage teams to prioritize cases of patients in need of ICU care, aided by the guidelines. Data are still being analyzed; here we share some preliminary observations and lessons learned. In our sessions, it was striking how much triage depends on the input of the intensivist, especially when it comes to crucial expertise regarding prognosis and length of stay. Differences in prioritization predominantly depended on different estimations of prognosis and length of stay. The guidelines provide direction, but prioritizing ICU patients can be mentally burdensome for triagists. This requires support and aftercare for triage teams.

Learning shared decision-making in clinical practice.

OBJECTIVE: To explore how shared decision-making (SDM) is learned in clinical practice according to professionals and patients. METHODS: Focus group and individual interviews with interns (n = 9), residents (n = 12), senior physicians (n = 13), and (former) patients and relatives (n = 13) in fertility care and intensive care. RESULTS: Patients and professionals identified barriers and drivers for SDM related to patient, caregiver, and context. Participants agreed: the nuances of SDM are learned in practice, not during undergraduate medical education. Through observing and copying from other professionals, interns and residents describe building their personal "repertoire" of SDM skills, knowledge, and attitude. Professionals indicated it was helpful to see many different examples - both good and bad - of physicians in action. CONCLUSION: Learning SDM is a complicated task for both students and professionals in healthcare. Relevant factors are the involvement of patients, the role of informal learning processes and role models, and the importance of reflective practice. PRACTICE IMPLICATIONS: Learning SDM in practice requires 1) measures to lessen pressures on a meso and macro level that hinder SDM in practice, 2) inventive and precise training and education and paying explicit attention to informal learning processes in clinical practice and learning through role models.