Elena Sophia Doll

Background: Preimplantation Genetic Testing (PGT) is a technique allowing genetic testing of embryos before implantation. In the 2000s a lack of knowledge about and highly ambivalent emotions towards PGT have been reported in Germany. In 2011, regulations changed, legalizing the procedure under certain preconditions. Methods: A cross-sectional trend-design with population-representative data, collected in 2003 ( n = 2110) and 2024 ( n = 2504), was applied. Analyses included χ ² test and t-tests comparing knowledge and attitudes in 2003 and 2024. Binary logistic regression and hierarchical regression analyses were conducted to explore differences. Results: Mild differences in subjective prior knowledge between the two samples became evident. Sociodemographic factors (gender, education, and relationship status) were modestly associated with higher prior knowledge. Positive attitudes were slightly higher, and negative attitudes slightly lower, in 2024. In 2003 small differences for gender and religious affiliation became evident. Subjective prior knowledge had the relatively strongest association with agreement to all benefit-related-items, and more positive attitude towards PGT in 2024. In 2024 one fourth of participants answered “I don’t know”, regarding their agreement to statements about PGT. Conclusions: Findings emphasize the ongoing debate and uncertainty surrounding PGT. Results may indicate slow social changes in attitudes towards genetic research and application, and also in regards to awareness of reproductive autonomy and gender biases. These results underscore the need for sufficient public education and point out the delicate issue of balancing medical advancements with ethical and social responsibility. Trial registration Open Science Framework (OSF; https://doi.org/10.17605/OSF.IO/4PF5N )

Parental perspectives are central in ongoing debates about genomic newborn screening (gNBS). This study examined (expecting) parents’ interest in gNBS in Germany. We hypothesized that condition characteristics (actionability, genetic penetrance) and personal factors (e.g., attitudes towards gNBS, anticipated coping, risk perception) predict parental interest in gNBS for their child. We also investigated determinants of risk perception. In an online survey ( N = 556; 60% women; M age=35 years), participants evaluated nine hypothetical case-scenarios that systematically varied penetrance and actionability. Data were analyzed using multilevel models, latent profile analysis and descriptive statistics. Overall, (expecting) parents showed a strong demand for information, driven more by perceived benefits than concerns. Two profiles emerged: one highly open and one seeking information more selectively. Across scenarios, higher interest in potential gNBS findings was associated with high actionability and moderate penetrance (50–74%) of possible target conditions, prior experience with chronic conditions, greater anticipated coping with test results, higher perceived probability of condition development, and more positive than negative attitudes toward gNBS. Perceived probability (subjective risk) predicted interest better than objective risk (penetrance), but was itself well explained by penetrance. Diagnostic concern (worry about disease manifestation) was consistently higher than perceived probability across penetrance levels and more pronounced in women. Implications include avoiding the reporting of low-penetrance findings due to disproportionate diagnostic concern and providing decision aids to support informed parental decision-making.

The growing integration of digital technologies into healthcare requires understanding the impact of different consultation modalities on patient stress, memory and perceived credibility. This study compared different consultation modalities (human physician, in person or via video call; AI-style physician, as a chatbot or avatar) in standardized simulated medical consultations involving the delivery of bad news. For the AI-styled physician consultations, a Wizard of Oz design was used, in which participants were told they interacted with an AI physician while a human controlled the interaction. 163 healthy participants experienced either a human or an AI physician. Stress was measured through ratings and salivary cortisol, alongside memory retrieval and situation credibility. Human-based consultations led to higher stress levels than AI-styled formats. Greater perceived credibility was associated with stronger stress responses. Memory retrieval was lowest in the AI-styled chatbot condition. These findings show that different consultation modalities are associated with varying levels of stress and memory in medical settings. AI-styled physician interactions may reduce stress in routine medical communication, but their use should be carefully considered for critical medical communication.

Background: Digital health interventions are increasingly being integrated into oncological care to support patients in managing treatment-related symptoms and psychological distress. In a randomized controlled pilot trial, we investigated the feasibility and preliminary efficacy of a digital health app (SOFIA) among patients with cancer, including those in palliative care. SOFIA consists of an electronic patient-reported outcome (ePRO) assessment and coaching component. We showed good feasibility and high acceptability of SOFIA in routine clinical care. Objective: This pilot study aimed to evaluate user experiences and behavior with SOFIA. We applied a mixed methods design, combining a qualitative exploration of patients’ experiences and a quantitative analysis of app usage patterns. The integrated findings are intended to inform the refinement and further development of digital health interventions to better address the needs, preferences, and engagement behaviors of this patient population. Methods: Patients randomly assigned to the intervention group participated in semistructured interviews at 2 time points during the 12-week intervention period: midway through the intervention (at week 6) (T1) and postintervention (at week 12) (T2). Qualitative data were analyzed using content analysis. User data were descriptively analyzed with Python and the Pandas library (version 2.2.3). Results: Our qualitative analysis of 29 patients revealed benefits regarding the ePRO assessment (empowerment, support, user-friendliness, and facilitation of patient-physician communication), as well as some criticism (inflexible design and insufficient use by physicians). Benefits of the coaching tool included the availability of helpful information and design aspects such as clarity and user-friendliness. Quantitative data from 32 active users of the app showed that 16 (50%) of patients read articles, 28 (87.5%) started journeys, and 15 (46.9%) completed exercises at any point during the study. Conclusions: The results of this mixed methods study may provide important indications for digital interventions, including ePRO assessment, for patients with cancer. From the patients’ perspective, key features include intuitive design, relevant symptom items, reliable reminder functions, the translation of ePROs into clinically actionable information, clear symptom visualizations, seamless integration into electronic health records, and effective physician engagement. Both our qualitative and quantitative data show the importance of therapy-specific content. These results might increase acceptance and usage, and thereby also the clinical benefit, of future digital interventions for patients with cancer.

Zusammenfassung: Genomisches Neugeborenen-Screening (gNBS) wird international zunehmend diskutiert und in Forschungsprojekten getestet. Es bietet das Potenzial, zahlreiche genetische Erkrankungen frühzeitig zu erkennen, birgt jedoch gleichzeitig ethische und psychologische Herausforderungen. Diese Arbeit widmet sich der Frage der Autonomie bei der elterlichen Entscheidungsfindung im Kontext von gNBS. Zunächst werden ethische und psychologische Dimensionen der Entscheidungsfindung beleuchtet. Die ethische Herausforderung besteht nicht nur darin, komplexe Informationen verständlich aufzubereiten, sondern auch sicherzustellen, dass Eltern die Tragweite ihrer Entscheidung für oder gegen das Screening vollständig erfassen können. Besonders herausfordernd ist dabei, dass sie eine Entscheidung im Namen ihres Kindes treffen müssen, die dessen zukünftiges Wohlergehen maßgeblich beeinflusst. Psychologische Faktoren wie individuelle Persönlichkeitsmerkmale, Vertrauen in den Arzt oder die Ärztin, sowie momentane Emotionen können die Entscheidungsfindung ebenfalls beeinflussen. Diese Arbeit nimmt Bezug auf die Ergebnisse einer Fokusgruppenbefragung, in der die Ansichten und Bedürfnisse von Eltern, Ärztinnen und Ärzten sowie Patientenvertreter-/innen zur Entscheidungsfindung beim gNBS erfasst wurden. Die Befragten betonten den Bedarf an frühzeitiger, pränataler Aufklärung und struktureller Unterstützung im Einwilligungsprozess. Es zeigte sich, dass Fachkompetenz der aufklärenden Personen und die Berücksichtigung unterschiedlicher Betreuungskontexte entscheidend sein könnten, um eine informierte und autonome Entscheidung der Eltern zu gewährleisten. Empirische Befunde und theoretische Überlegungen münden in praktische Empfehlungen: Informationen sollten klar, verständlich und frühzeitig zur Verfügung gestellt werden. Interaktive und adaptive Entscheidungshilfen, Schulungen für Gesundheitspersonal und ein transparenter Informationsprozess sind essenziell, um Eltern bei der Entscheidungsfindung zu unterstützen. Dabei steht die Autonomie der Eltern in einem Spannungsverhältnis zur stellvertretenden Wahrnehmung der Autonomierechte des Kindes: Während Eltern befähigt werden sollen, eine informierte und eigenständige Entscheidung zu treffen, ist sicherzustellen, dass diese Entscheidung im besten Interesse des Kindes erfolgt. Das Kindeswohl muss dabei Vorrang vor rein elterlichen Interessen haben.

Definition of problem: Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent advances in genomic sequencing and in the bioinformatic evaluation of genetic variants will soon make it feasible however to expand NBS significantly by testing newborns directly for pathogenic variants. Yet, genomic newborn screening (gNBS) raises important ethical issues that require resolution, given that several pilot studies on gNBS implementation are already underway. Given a rapidly growing scholarly engagement with the ethics of gNBS, a more systematic and comprehensive mapping of the ethical issues and considerations relevant to gNBS is needed to move the debate forward at this point. Methods: In this integrative review, we survey the literature with the aim of delineating a conceptual framework for the ethics of gNBS, which organizes the ongoing debate and thereby provides guidance for further research. Here in Part II, we outline a tentative normative framework for the ethics of gNBS by systematizing the core ethical principles advanced in the literature and offer an original contribution to the debate beyond a mere survey of considerations by proposing a substantive interpretation of these principles and how they relate to each other in the gNBS context. We demonstrate the general utility of this framework for addressing the ethical issues involved in gNBS program design by drawing out its implications for some of the issues presented in Part I. Conclusion: In Part I, we formulated a requirement of informed consent for gNBS. Since newborns still lack a capacity for autonomous choice and informed consent, we approach gNBS program design through the question of what renders it ethically permissible for the child’s custodians to consent to gNBS in its name. Consequently, we discuss the authority of parents as surrogate decision-makers for their child, who are bound by a duty of care towards it. We substantiate this duty (a) by discussing several rights of the child, viz., its rights to informational self-determination, genetic ignorance, privacy, and an open future, and (b) by developing a specification of the best interest standard for children as the main principle that should guide and constrain both parental decision-making and gNBS program design. Finally, we consider concerns that gNBS could result in a harmful medicalization of healthy children.

Definition of problem: Newborn screening (NBS) is an internationally successful program for the secondary prevention of rare congenital diseases. At present, most of the target conditions in NBS are diagnosed by biochemical markers. Recent advances in genomic sequencing and in the bioinformatic evaluation of genetic variants will soon make it feasible however to expand NBS significantly by testing newborns directly for pathogenic variants. Yet, genomic newborn screening (gNBS) raises important ethical issues that require resolution, given that several pilot studies on gNBS implementation are already underway. Given a rapidly growing scholarly engagement with the ethics of gNBS, a more systematic and comprehensive mapping of the ethical issues and considerations relevant to gNBS is needed to move the debate forward at this point. Methods: In this integrative review, we survey the literature with the aim of delineating a conceptual framework for the ethics of gNBS, which organizes the ongoing debate and thereby provides guidance for further research. Here in Part I, we focus primarily on an exposition of the ethical issues and questions involved in gNBS program design. Conclusion: The ethical issues divide into issues regarding (1) the test itself and the selection of target conditions, (2) informed consent, and (3) genomic data generation, storage, and use. Regarding (1) we discuss several dimensions along which potential target conditions can differ and their ethical implications, and formulate some requirements on appropriate selection criteria with special regard to minimizing diagnostic and therapeutic uncertainty. Regarding (2) we discuss the need for informed consent, the structure and content of pre-test counseling (when, who, what, how), the suggestion of a tiered testing offer, and familial conflict. Regarding (3) we discuss liberal versus restrictive approaches to genomic data generation, parental consent to genomic raw data storage for further uses beyond the test, some candidate further uses, and the risk of abuse.

The advancement of genome sequencing technology and its potential application in newborn screening is being discussed in various countries. Genomic newborn screening (gNBS) can provide parents with information about their child's genetic susceptibility for known disorders. However, it also presents ethical and psychosocial challenges. This study was carried out with a view toward the possible introduction of gNBS in Germany. Due to the existing challenges, it is crucial to understand different perspectives of relevant groups in Germany before implementing gNBS. Four online focus groups were conducted with parents, patient representatives, and healthcare professionals to explore perceived opportunities and challenges, as well as needs regarding a potential gNBS program. Discussions with altogether 24 participants were semi‐structured using a pre‐defined interview guide. Sessions were audio‐visually recorded and transcripts were analyzed using a structuring qualitative content analysis combining both deductive and inductive methods. Participants expressed positive views about gNBS but also reservations about a gNBS program and posed requirements for operating conditions. One salient theme that emerged was hope for certainty through gNBS in the face of numerous uncertainties. The study complements the perspective of patient representatives, providing further insight into the subject matter. This is a valuable contribution as they possess a comprehensive understanding of the medical, psychological, and ethical considerations involved. Patient representatives placed particular emphasis on the advantages of avoiding a diagnostic odyssey and the significance of support systems. The results provide first insights into different views on gNBS in Germany. These views can inform the potential preparation of a gNBS program in Germany, particularly with regard to information and consent requirements. Implications for practice, such as informing and educating parents about gNBS during pregnancy, can be derived from the study.