'It's a nightmare': informed consent in paediatric genome-wide sequencing. A qualitative expert interview study from Germany and Switzerland.

The use of genome-wide sequencing (GWS) in paediatrics has added complexity to informed consent (IC) and pretest counselling because of the vast number and interpretation of potential findings, and their implications. However, empirical data from continental Europe on these issues remains limited. This study therefore aimed to explore the experiences and views of medical geneticists working with children in Germany and Switzerland regarding the challenges of obtaining valid IC in paediatric GWS. Qualitative interviews with 20 medical geneticists were analysed employing reflexive thematic analysis. In the interviews, many medical geneticists questioned the validity of parents' IC due to the enormous amount of relevant information given and the variety and complexity of the possible test outcomes. Key barriers identified included familial implications, administrative challenges and struggles with non-directiveness. Medical geneticists' suggestions for improvement included increasing the number of genetics professionals and better information material, which is crucial as GWS becomes a diagnostic standard in the early care pathways of children. An adjustment of aspirations from still existing ideal of traditional fully IC to appropriate IC seems to be needed. Such a more realistic and ethically sound adaptation of the requirements for IC can lead to better 'informedness' and improve the validity of the consent. This might also help reduce the moral distress for the medical geneticists involved.

The use of heuristics in genetic testing decision-making: A qualitative interview study.

BACKGROUND: Decision-making concerning predictive genetic testing for hereditary cancer syndromes is inherently complex. This study aims to investigate what kind of complexities adults undergoing genetic counseling in Switzerland experience, how they deal with them, and what heuristics they use during the decision-making process. METHODS: Semi-structured qualitative interviews with eighteen Swiss adults seeking genetic counseling for hereditary cancer syndrome genetic testing and two counseling physicians were conducted and analyzed using a grounded theory approach. RESULTS: Counselees stated that once they were aware of their eligibility for genetic testing they perceived an inevitable necessity to make a decision in a context of uncertainties. Some counselees perceived this decision as simple, others as very complex. High emotional involvement increased perceived complexity. We observed six heuristics that counselees used to facilitate their decision: Anticipating the test result; Focusing on consequences; Dealing with information; Interpreting disease risk; Using external guidance; and (Re-)Considering the general uncertainty of life. LIMITATIONS: Our findings are limited to the context of predictive genetic testing for hereditary cancer syndromes. This qualitative study does not allow extrapolation of the relative frequency of which heuristics occur. CONCLUSIONS: The use of heuristics is an inherent part of decision-making, particularly in the complex context of genetic testing for inherited cancer predisposition. However, some heuristics increase the risk of misinterpretation or exaggerated external influences. This may negatively impact informed decision-making. Thus, this study illustrates the importance of genetic counselors and medical professionals being aware of these heuristics and the individual manner in which they might be applied in the context of genetic testing decision-making. Findings may offer practical support to achieve this, as they inductively focus on the counselees' perspective.

The full spectrum of ethical issues in pediatric genome-wide sequencing: a systematic qualitative review.

BACKGROUND: The use of genome-wide sequencing in pediatric medicine and research is growing exponentially. While this has many potential benefits, the normative and empirical literature has highlighted various ethical issues. There have not been, however, any systematic reviews of these issues. The aim of this systematic review is to determine systematically the spectrum of ethical issues that is raised for stakeholders in in pediatric genome-wide sequencing. METHODS: A systematic review in PubMed and Google Books (publications in English or German between 2004 and 2021) was conducted. Further references were identified via reference screening. Data were analyzed and synthesized using qualitative content analysis. Ethical issues were defined as arising when a relevant normative principle is not adequately considered or when two principles come into conflict. RESULTS: Our literature search retrieved 3175 publications of which 143 were included in the analysis. Together these mentioned 106 ethical issues in pediatric genome-wide sequencing, categorized into five themes along the pediatric genome-wide sequencing lifecycle. Most ethical issues identified in relation to genome-wide sequencing typically reflect ethical issues that arise in general genetic testing, but they are often amplified by the increased quantity of data obtained, and associated uncertainties. The most frequently discussed ethical aspects concern the issue of unsolicited findings. CONCLUSION: Concentration of the debate on unsolicited findings risks overlooking other ethical challenges. An overarching difficulty presents the terminological confusion: both with regard to both the test procedure/ the scope of analysis, as well as with the topic of unsolicited findings. It is important that the genetics and ethics communities together with other medical professions involved work jointly on specific case related guidelines to grant the maximum benefit for the care of the children, while preventing patient harm and disproportionate overload of clinicians and the healthcare system by the wealth of available options and economic incentives to increase testing.

Examining information-seeking behavior in genetic testing for cancer predisposition: A qualitative interview study.

OBJECTIVE: This study aims to assess information needs and information sources and seeks to illustrate what at-risk individuals consider motivators of and barriers to information-seeking before and after genetic testing for cancer predisposition. METHODS: Semi-structured interviews with people seeking genetic counseling in Switzerland were analyzed qualitatively using thematic analysis. Wilson's model of information behavior was the theoretical framework. RESULTS: We identified four themes that illustrate motivators of and barriers to information-seeking: attitudes and emotions; knowledge; social environment; and demographic factors. We also elucidated information needs and collected participants' information sources. CONCLUSION: This study£s empirical approach helps healthcare professionals to understand their patients' behaviors and wishes concerning information-seeking more concretely than theoretical models alone. The study also identifies information gaps, especially outside the genetic counseling setting. PRACTICE IMPLICATIONS: Genetic counselors and other healthcare professionals need to purposefully assist patients in finding trustworthy and accessible information. Healthcare professionals in all disciplines need to be educated about predictive genetic testing.

Autonomy and social influence in predictive genetic testing decision-making: A qualitative interview study.

Beauchamp and Childress' definition of autonomous decision-making includes the conditions of intentionality, understanding, and non-control. In genetics, however, a relational conception of autonomy has been increasingly recognized. This article aims to empirically assess aspects of social influence in genetic testing decision-making and to connect these with principlist and relational theories of autonomy. We interviewed 18 adult genetic counsellees without capacity issues considering predictive genetic testing for cancer predisposition for themselves and two counselling physicians in Switzerland. We conducted a qualitative analysis, building on a grounded theory study about predictive genetic testing decision-making. We found that some participants agreed to predictive genetic testing predominantly because relatives wanted them to do it, with some even acting contrary to their own convictions. Others, in contrast, based their decision on purely individualistic reasons but expressed difficulties in explaining their decision to their social environment. Healthcare professionals had a critical influence on decision-making in many cases without being manipulative, as perceived by counsellees. Still, cases of coercion and social pressure occurred within social relationships. In conclusion, predictive genetic testing decision-making includes relational and individualistic aspects, and both are compatible with autonomous decision-making. While the principlist and relational notions of autonomy compete on a theoretical level, they are two sides of the same coin when used as analytical lenses for genetic testing decision-making. Social acceptance of refusal of testing should be improved to mitigate social pressure. Individuals should be encouraged to decide for themselves how much their social environment influences their decision regarding predictive genetic testing.

Acute and transitional care or rehabilitation? Retrospective analysis of discharge planning from a municipal hospital in Switzerland.

BACKGROUND: Due to rising health care costs, in 2012 Switzerland introduced SwissDRG, a reimbursement system for hospitals based on lump sum per case. To circumvent possible negative consequences like reduction in length of stay, acute and transitional care (ATC) was anchored into the law (Federal act on health insurance) in 2011. ATC as a discharge option is applicable to patients who physicians deem will not fulfill rehabilitation criteria, but are unable to return home and are in need of temporary professional nursing care. ATC is associated with higher out of pocket costs to the patient than rehabilitation. Since social service workers are responsible for organizing discharge for patients with ongoing care needs after hospitalization, the aim of this study was to investigate how social service workers manage patient discharge in light of the new discharge option ATC. METHODS: Data was collected from 423 medical records of inpatients from Zurich's municipal hospital, Triemli, discharged to ATC or rehabilitation, in 2016. We compared the two groups using inferential statistics and qualitatively analyzed written statements from social service workers. RESULTS: Our results showed that patients discharged to rehabilitation had a higher total number of discussions, but a shorter duration of discussions. Patients discharged to rehabilitation faced more delays, mainly due to unavailability of beds in rehabilitation centers. Conflicts concerning discharge arose mainly because of costs, discharge placement and too early discharge. CONCLUSIONS: Our findings demonstrate how important social service workers are in providing information to patients about different discharge options. The newness of SwissDRG and ATC is still likely to cause longer discussion times and, consequently, more workload for social service workers. Only a small fraction of patients disagreed with their place of discharge, mostly due to financial reasons.

Differentiating needs of informal caregivers of individuals with ALS across the caregiving course: a systematic review.

BACKGROUND: Informal caregivers of people with amyotrophic lateral sclerosis (ALS) experience a range of needs across the course of the disease. For the provision of adequate support, an examination of the empirical evidence is necessary. AIM: The purpose of the systematic review was to synthesize evidence of needs of informal caregivers of people with ALS at different stages of caregiving. METHOD: Systematic review of empirical research on needs of ALS informal caregivers in both English and German, from January 2000 to August 2018. We searched the databases EMBASE, MEDLINE (PubMed), PsycINFO, and CINAHL. Study selection, quality assessment, and data extraction was performed independently. Both quantitative and qualitative studies were included. Of the included studies, we additionally screened citing literature in Google Scholar (citation tracking). We linked the narrative synthesis to four stages of caregiving described by Williams and colleagues and used descriptive inductive thematic analysis to structure data within the stages. RESULTS: From 3275 abstracts screened, 48 manuscripts met our inclusion criteria. Our data analysis shows that needs differ across the four caregiving stages. While the stage of bereavement (stage 4) includes too little data for separate themes, themes for needs after diagnosis (stage 1), and terminal stage (stage 3) could be specified. As the maintenance (stage 2) stage comprised of themes relevant across the caregiving course, it became an overall stage. DISCUSSION: Healthcare professionals need to pay attention to current caregiving stages to provide support for informal caregivers. Further research is needed to tease out support needs for the bereavement phase.

How the "control-fate continuum" helps explain the genetic testing decision-making process: a grounded theory study.

Genetic testing decision-making for cancer predisposition is inherently complex. Understanding the mechanisms and influencing factors of the decision-making process is essential for genetic counselling and has not yet been investigated in Switzerland. This study's aim is thus to provide a theory about the individual's decision-making process regarding genetic testing for cancer predispositions in order to provide medical geneticists and genetic counsellors with insights into the needs and expectations of counsellees. We interviewed at-risk individuals who underwent genetic counselling in a clinical setting in Switzerland, using a grounded theory approach. Based on the interview data, we propose that a control-fate continuum, which is part of the individuals' life philosophy, importantly influences the decision-making process. Those in need for control decide differently compared with those leaving their future to fate. Several psychosocial factors influence the position on the control-fate continuum: "looking for certainty"; "anticipating consequences"; "being socially influenced"; "simplifying risks"; and "deciding intuitively vs reflectively". The control-fate continuum theory gives insights into the possible reasons behind decision-making regarding genetic testing for cancer predispositions. It includes both acceptors and decliners of genetic testing. Our theory helps healthcare professionals offering genetic counselling to anticipate problems within at-risk families and adapting their services to people's needs.

Practicality of Acute and Transitional Care and its consequences in the era of SwissDRG: a focus group study.

BACKGROUND: Switzerland recently introduced Acute and Transitional Care (ATC) as a new financing option and a preventive measure to mitigate potential side effects of Swiss Diagnosis Related Group (SwissDRG). The goal of ATC was to support patients who after acute treatment at a hospital require temporary increased professional care. However, evidence is lacking as to the practicality of ATC. METHODS: Using qualitative focus group methodology, we sought to understand the implementation and use of ATC. A purposive sample of forty-two professionals from five Swiss cantons participated in this study. We used a descriptive thematic approach to analyse the data. RESULTS: Our findings first reveal that ATC's implementation differs in the five cantons (i.e. federal states). In two cantons, only ambulatory variant of ATC is used; in one canton only stationary ATC has been created, and two cantons had both ambulatory and stationary ATC but preferred the latter. Second, there are intrinsic practical challenges associated with ATC, which include physicians' lack of familiarity with ATC and its regulatory limitations. Finally, participants felt that due to shorter hospital stays because of SwissDRG, premature discharge of patients with complex care needs to stationary ATC takes place. This development does not fit the nursing home concept of care tailored to long-term patients. CONCLUSION: This empirical study underscores that there is a strong need to improve ATC so that it is uniformly implemented throughout the country and its application is streamlined. In light of the newness of ATC as well as SwissDRG, their impact on the quality of care received by patients is yet to be fully understood. Empirical evidence is necessary to improve these two measures.

Factors associated with post-acute discharge location after hospital stay: a cross-sectional study from a Swiss hospital.

BACKGROUND: In 2012, Switzerland introduced the diagnosis-related group hospital payment system. Fearing that vulnerable patients may be discharged early, Acute and Transitional Care (ATC) was introduced to address the nursing care of patients who no longer needed an acute hospital stay. ATC is more costly for patients when compared to other discharge options like rehabilitation while providing less rehabilitative services. This study investigates factors associated with the place of discharge for patients in need of care. METHODS: Data was collected from 660 medical records of inpatients 50 years and older of the municipal hospital Triemli in Zurich, Switzerland. We used stepwise logistic regression to identify factors associated with their discharge into ATC or rehabilitation. RESULTS: Older patients with higher Delirium Observation Scale (DOS), lack of supplementary health insurance, resuscitation order and a lower social network were more likely to be discharged into ATC than rehabilitation. CONCLUSIONS: The association of supplementary health insurance and social network with discharge into ATC or rehabilitation is problematic because patients that are already vulnerable from a financial and social perspective are potentially discharged into a more costly and less rehabilitative post-acute care facility.

A scoping review of empirical evidence on the impacts of the DRG introduction in Germany and Switzerland.

CONTEXT: Germany and Switzerland have introduced diagnosis-related groups (DRGs) for hospital reimbursement. This scoping review aims to evaluate if empirical evidence exists on the effect of the DRG introduction. METHODS: Medline via PubMed, Embase (Elsevier), CINAHL, PsychINFO, and Psyndex were systematically screened for studies from 2003 onwards using keywords-DRG, prospective payment system, and lump sum-in English, German, and French. Abstracts were screened for alignment with our inclusion criteria and classified as editorial/commentary, review, or empirical study. The full-text extraction included data on country, study design, collected data, study population, specialty, comparison group, and outcome measures. RESULTS: Our literature search yielded 1944 references, of which 1405 references were included in the abstract screening after removal of duplicates. 135 articles were relevant to DRG, including 94 editorials/comments/reviews and 41 empirical articles from 36 different samples. The most frequently used outcome parameters were length of stay (12), reimbursement/cost (9), and case numbers (9). CONCLUSIONS: Only a minority of identified articles (30.4%; 41 of 135) presented empirical data. This indicates that discussion on the topic is not totally evidence-based. The only common trend was a decrease in length of stay.

Hospital discharge of patients with ongoing care needs: a cross-sectional study using data from a city hospital under SwissDRG.

AIM OF THE STUDY: Switzerland introduced the SwissDRG in 2012. The goal of this reimbursement system was to promote cost containment and efficiency in hospital care. To ensure that patients with care needs are not released prematurely because of constraints under the new hospital financing system, the Swiss law on Acute and Transitional Care (ATC) was introduced one year earlier. The objective of the present study was to investigate the impact of ATC and its effects on discharge of patients with persisting care needs after hospitalisation. METHODS: Social service workers, nurses and palliative care team members at a Swiss municipal hospital were asked to complete a four-page closed-ended questionnaire about patients who require care after their hospital discharge. This included questions on discharge management, their perceptions of the appropriateness of discharge timing and details about conflicts regarding discharge. Information on length of stay, discharge location, age and sex was extracted from hospital records and matched to the information from the questionnaires. Demographic data are presented descriptively, differences between patients released to ATC and patients released elsewhere (home, nursing home, rehabilitation, etc.) were evaluated with chi-square tests. Logistic regression analyses were performed to evaluate differences between those sent to ATC and rehabilitation with age, length of stay and sex as predictors. RESULTS: A total 1410 of valid questionnaires were collected, comprised of 746 female patients (52.9%) and 664 male patients (47.1%). The mean age of our patient cohort was 73.2 years (SD 15.1), and the mean hospital stay was 12.8 days (SD 9.1). After their hospital stay, 553 patients (39.2%) returned home either alone, or with the help of family members or Spitex. More than a quarter of the sample, 387 (27.4%) patients, was sent to rehabilitation. Less than a fifth, 199 (14.1%) patients, received ATC in an inpatient institution (e.g., nursing home). Compared with patients released elsewhere, significantly more problems/conflicts with regard to hospital discharge were reported for ATC patients (28.6 vs 20.6%, p = 0.01) and their relatives (12.6 vs 7.2%, p = 0.01). Women had a higher probability of being discharged to ATC (OR 1.522, p = 0.014) and a lower chance of receiving rehabilitation upon discharge (OR 0.733, p = 0.014). CONCLUSION: The study identified important concerns related to receiving ATC after a hospital stay, that is, more problems/conflicts occur with patients discharged to ATC and that the introduction of ATC might particularly disadvantage female patients, who are less likely to receive rehabilitation care.

Utilization of colonoscopy and colonoscopic findings among individuals aged 40-54 years with a positive family history of colorectal cancer: a cross-sectional study in general practice.

Guidelines recommend early colonoscopy for individuals with a positive family history of colorectal cancer (CRC), but little is known about the utilization of colonoscopy and the frequency of colorectal neoplasms among younger affected individuals in Germany. The aim of this study was to determine the utilization of colonoscopy and the frequency of colorectal neoplasms in this risk group. We conducted a cross-sectional study in a general practice setting. Patients aged 40-54 years with at least one first-degree relative with CRC were identified, counseled on their increased risk, and referred to colonoscopy if they decided to undergo this procedure. We assessed the reported utilization of colonoscopy before study participation with a questionnaire and obtained results of colonoscopies performed during the study period from colonoscopy reports. Out of 484 patients with a positive family history of CRC, 191 (39.5%) fulfilled the inclusion criteria and participated in the study: 54% reported that at least one colonoscopy had been performed before study participation. Out of 191 participants, 86 (45%) underwent a colonoscopy during study period. No CRC was found, but 16.3% had any adenoma, and 7.0% had advanced adenomas. Overall, 155 (82%) study participants underwent a colonoscopy either before or during the study period. The utilization of colonoscopies among participants was remarkably high even before study participation. This rate increased up to 82% after counseling by general practitioners. A relevant number of participants had (advanced) adenomas. It appears worthwhile to involve general practitioners in identifying and counseling younger individuals with familial risk for CRC.

Oncologists' views on the importance of general practitioners for cancer patients: a qualitative interview study from Germany.

Background: Integrated cancer care requires cooperation between specialists and general practitioners (GPs). Mutual understanding of each other's tasks and responsibilities is essential if cooperation is to be successful. While GPs' opinions about oncologists have been addressed in previous studies, less is known about oncologists' views on the role of GPs' in cancer care, especially with regard to GPs' patient-centred, communication-based tasks. Objective: To assess oncologists' views on the importance of GPs for cancer patients. Methods: We conducted 15 qualitative guideline-based telephone interviews with oncologists using open-ended questions and analysed these interviews using thematic analysis. Results: Oncologists situated GPs as persons of trust for patients in a rather amicable sphere of caring in contrast to themselves who were situated in a rather biomedical sphere of evidence-based treatment decisions. Oncologists' appraisal of an overlapping of these spheres varied: While most stressed opportunities for patients (and themselves), others also mentioned risks. Conclusion: Our analysis found that oncologists clearly distinguish between their own sphere of evidence-based treatment decision-making and GPs' sphere of psychosocial caring. The question remains how these roles get interconnected in real life situations in order to meet patients' needs adequately. So far it seems that it is often the patient who is travelling between both spheres and needs to initiate interconnection to get comprehensive cancer care.

Frequency of a positive family history of colorectal cancer in general practice: a cross-sectional study.

BACKGROUND: Evidence on the frequency of a positive family history of colorectal cancer (CRC) among individuals aged <55 years is lacking. General practice setting might be well suited for the identification of individuals in this above-average risk group. OBJECTIVE: To determine the frequency of a reported positive family history of CRC among patients aged 40 to 54 years in a general practice setting. METHODS: We conducted a cross-sectional study in 21 general practices in Germany. Patients aged 40 to 54 years were identified by means of the practice software and interviewed by health care assistants using a standardized four-item questionnaire. Outcome was occurrence of a positive family history of CRC, defined as at least one first-degree relative (FDR: parents, siblings, or children) with CRC. Further measurements were FDRs with CRC / colorectal polyps (adenomas) diagnosed before the age of 50 and occurrence of three or more relatives with colorectal, stomach, cervical, ovarian, urethel or renal pelvic cancer. RESULTS: Out of 6723 participants, 7.2% (95% confidence interval [CI] 6.6% to 7.8%) reported at least one FDR with CRC and 1.2% (95% CI 0.9% to 1.5%) reported FDRs with CRC diagnosed before the age of 50. A further 2.6% (95% CI 2.3% to 3.0%) reported colorectal polyps in FDRs diagnosed before the age of 50 and 2.1% (95% CI 1.8% to 2.5%) reported three or more relatives with entities mentioned above. CONCLUSION: One in 14 patients reported at least one FDR with CRC. General practice should be considered when defining requirements of risk-adapted CRC screening.

Positive family history of colorectal cancer in a general practice setting [FRIDA.Frankfurt]: study protocol of a of a cross-sectional study.

BACKGROUND: Although the risk of developing colorectal cancer (CRC) is 2-4 times higher in case of a positive family history, risk-adapted screening programs for family members related to CRC- patients do not exist in the German health care system. CRC screening recommendations for persons under 55 years of age that have a family predisposition have been published in several guidelines. The primary aim of this study is to determine the frequency of positive family history of CRC (1st degree relatives with CRC) among 40-54 year old persons in a general practitioner (GP) setting in Germany. Secondary aims are to detect the frequency of occurrence of colorectal neoplasms (CRC and advanced adenomas) in 1st degree relatives of CRC patients and to identify the variables (e.g. demographic, genetic, epigenetic and proteomic characteristics) that are associated with it. This study also explores whether evidence-based information contributes to informed decisions and how screening participation correlates with anxiety and (anticipated) regret. METHODS/DESIGN: Prior to the beginning of the study, the GP team (GP and one health care assistant) in around 50 practices will be trained, and about 8,750 persons that are registered with them will be asked to complete the "Network against colorectal cancer" questionnaire. The 10% who are expected to have a positive family history will then be invited to give their informed consent to participate in the study. All individuals with positive family history will be provided with evidence-based information and prevention strategies. We plan to examine each participant's family history of CRC in detail and to collect information on further variables (e.g. demographics) associated with increased risk. Additional stool and blood samples will be collected from study-participants who decide to undergo a colonoscopy (n ~ 350) and then analyzed at the German Cancer Research Center (DKFZ) Heidelberg to see whether further relevant variables are associated with an increased risk of CRC. One screening list and four questionnaires will be used to collect the data, and a detailed statistical analysis plan will be provided before the database is closed (expected to be June 30, 2015). DISCUSSION: It is anticipated that when persons with a family history of colorectal cancer have been provided with professional advice by the practice team, there will be an increase in the availability of valid information on the frequency of affected individuals and an increase in the number of persons making informed decisions. We also expect to identify further variables that are associated with colorectal cancer. This study therefore has translational relevance from lab to practice. TRIAL REGISTRATION: German Clinical Trials Register DRKS00006277.