Sascha Settegast

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.

[English version below] Diese Stellungnahme zielt darauf ab, Empfehlungen für akzeptable Rahmenbedingungen eines Genomischen-Neugeborenen-Screening (gNBS)-Programms in Deutschland zu formulieren, darunter Empfehlungen zu Auswahlkriterien für Zielkrankheiten und zum Management eines gNBS-Programms sowie zur gesetzlichen Neuregulierung. Sie ist Ergebnis eines dreijährigen Forschungsprojektes, das an den Universitäten Heidelberg und Mannheim durchgeführt wurde. An dem interdisziplinären Projekt beteiligt waren Forscher:innen aus den Bereichen Kinder- und Jugendmedizin, Humangenetik, Rechtswissenschaft, Medizinische Psychologie und Medizinethik sowie Vertreter:innen von Patient:innen-Organisationen (Kindernetzwerk e.V. und Deutsche Interessengemeinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen e.V.). Das Projekt wurde vom Bundesministerium für Bildung und Forschung (BMBF; seit 2025 Bundesministerium für Forschung, Technologie und Raumfahrt: BMFTR) gefördert und trägt den Titel NEW_LIVES („Genomic NEWborn screening programs – Legal Implications, Value, Ethics and Society” – „Genomische Neugeborenen-Screening-Programme – Rechtliche Implikationen, Werte, Ethik und Gesellschaft“). Die Stellungnahme beginnt mit einführenden Kapiteln zum Hintergrund des gNBS aus Sicht der verschiedenen Fachbereiche und aus Sicht der Gesellschaft, gefolgt von konkreten Empfehlungen für ein zukünftig mögliches gNBS-Pro- gramm in Deutschland. In der Einleitung (1.) werden erste Ergebnisse bisheriger Forschungsprojekte zum gNBS zusammengefasst und die Zielsetzung und Methode, einschließlich der Rolle von Patient:innen-Vertreter:innen bei der Erarbeitung der Stellungnahme werden beschrieben. In Abschnitt 2 („Medizinischer Hintergrund“) werden Entwicklung, Umfang und Ablauf des derzeitigen Neugeborenen-Screening (NBS)-Programms in Deutschland beschrieben und die Besonderheiten eines gNBS-Programms erläutert. Abschnitt 3 („Perspektive von Patient:innen, Eltern und medizinischem Personal“) fasst die Ergebnisse der sozialempirischen Studien zusammen, die im Rahmen des Projektes NEW_LIVES durchgeführt wurden (Fokusgruppen, bevölkerungs-repräsentative Befragung, querschnittliche Online-Befragung) und vergleicht die Ergebnisse mit anderen, internationalen Studien. Abschnitt 3 enthält außerdem eine gemeinsame Stellungnahme der beiden Patient:innen-Organisationen, die am Projekt NEW_LIVES mitgewirkt haben, zum gNBS. Abschnitt 4 („Genomisches Neugeborenen-Screening aus rechtlicher Sicht“) skizziert den rechtlichen Regulierungsrahmen zum gNBS in Deutschland. Abschnitt 5 („Genomisches Neugeborenen-Screening aus ethischer Sicht“) benennt zentrale ethische Herausforderungen des gNBS und formuliert ethische Orientierungsmaßstäbe für ein zukünftiges gNBS-Programm in Deutschland. Da die Neugeborenen diejenigen sind, die an einem gNBS teilnehmen würden und davon profitieren könnten, stellt deren Kindeswohl den zentralen ethischen Orientierungsmaßstab für die Bewertung dar. Die sich in Abschnitt 6 anschließenden Empfehlungen sind aus Sicht aller an der Erarbeitung dieser Stellungnahme beteiligten Fachdisziplinen und der Patient:innen-Organisationen verfasst Darunter sind einerseits transparente Auswahlkriterien für Zielkrankheiten eines gNBS-Programms (Kriterien 1–11). Andererseits werden Empfehlungen für die Einführung, Qualitätssicherung und Nutzenbewertung eines gNBS-Programms formuliert (Kriterien 12–18). Zudem enthält diese Stellungnahme Empfehlungen zur gesetzlichen Neuregulierung. Eine Publikation der Empfehlungen auf Englisch findet sich in Schnabel-Besson et al.: “A multi-dimensional fra- mework for establishing and managing a genomic newborn screening program” (Arbeitstitel; zum Zeitpunkt des Verfassens dieser Stellungnahme in Vorbereitung; DOI der Preprint-Version: 10.1101/2025.06.17.25329 471). - This position paper has the aim of formulating recommendations for what would be an acceptable framework for a genomic newborn screening (gNBS) programme in Germany, including recommendations for selection criteria for target diseases, and for the management of a gNBS programme, as well as for revision of legislation. It is the result of a research project conducted at the Universities of Heidelberg and Mannheim over the course of three years. This interdisciplinary project brought together researchers from the fields of paediatrics and adolescent medicine, human genetics, law, medical psychology, and medical ethics, as well as representatives of patient organisations (Kindernetzwerk e.V., and Deutsche Interessenge- meinschaft Phenylketonurie und verwandte angeborene Stoffwechselstörungen e.V.). The project was funded by the German Federal Ministry of Education and Research (BMBF; since 2025 Federal Ministry of Research, Technology and Space: BMFTR) and is called NEW_LIVES (“Genomic NEWborn screening programs – Legal Implications, Value, Ethics and Society”). The position paper begins with introductory chapters on gNBS from the perspective of the different disciplines, and from a societal viewpoint, followed by concrete recommendations for a possible future gNBS programme in Germany. The Introduction (1.) summarises the initial results of previous research projects on gNBS, and describes the objectives, and methodology, including the role of patient representatives, in the development of the position paper. Section 2 (“Medical Background”) describes the development, scope, and process of the current NBS programme in Germany, and explains the specific features of a gNBS programme. Section 3 (“Perspectives of Patients, Parents, and Medical Staff”) summarizes the results of the social-empirical studies conducted as part of the NEW_LIVES project (focus groups, population-representative survey, cross-sectional online survey), and compares the results with other, international studies. Section 3 also contains a joint statement on gNBS by the two patient organisations that participated in the NEW_LIVES project. Section 4 (“Genomic Newborn Screening from a Legal Perspective”) outlines the legal regulatory framework for gNBS in Germany. Section 5 (“Genomic Newborn Screening from an Ethical Perspective”) identifies key ethical challenges of gNBS, and formulates ethical guidelines for a future gNBS programme in Germany. Since newborns are the ones who would participate in, and benefit from gNBS, their welfare represents the central ethical guideline for the evaluation. The recommendations in Section 6 are written from the perspective of all disciplines, and patient organisations involved in the development of this position paper. These recommendations reflect the consensus of the inter-, and transdisciplinary group of authors, and form the core of the position paper. They comprise 18 criteria for a possible future gNBS programme in Germany. These include, on the one hand, transparent selection criteria for target diseases of a gNBS programme (criteria 1–11). On the other hand, recommendations are formulated for the introduction, quality assurance, and benefit assessment of a gNBS programme (criteria 12–18). This position paper also contains recommendations for new legal regulations. An English version of the recommendations, including the 11 criteria for selecting target diseases and the 7 criteria for programme management can be found in Schnabel-Besson E, Dikow N, Alex K et al.: “A multidimensional framework for establishing and managing a genomic newborn screening program” (working title; in preparation at the time of writing this position paper; doi of preprint version: 10.1101/2025.06.17.25329471).

If (love) relationships in clinical, hospitalized settings are understood as specific forms of a more comprehensive concept of “love”, the question arises how possible theoretical approaches to and therapeutic implications of such forms of exiled love can be conceptualized, since the efforts to classify and evaluate these relationships are manifold and are modelled differently from the perspectives of various disciplines. Against this backdrop, the present article focuses on the salutogenic potentials of love at psychiatric wards and in rehabilitation milieus. Starting with an overview of the legal and ethical aspects, which have been increasingly discussed especially since the 1980s, both the effects of love relationships in clinical settings that interfere therapy and those that benefit therapy are addressed. The cultural-historical framework for this approach is based on the differentiation of love into eros, philia and agape, which are reflected in regard to their therapeutic and ethical-normative potentials and lead to an understanding of love as an “ontological rootedness”, which can provide the basis for resource-oriented therapeutic work.

Driven by technological innovations, newborn screening (NBS) panels have been expanded and the development of genomic NBS pilot programs is rapidly progressing. Decisions on disease selection for NBS are still based on the Wilson and Jungner (WJ) criteria published in 1968. Despite this uniform reference, interpretation of the WJ criteria and actual disease selection for NBS programs are highly variable. A systematic literature search [PubMED search “Wilson” AND “Jungner”; last search 16.07.22] was performed to evaluate the applicability of the WJ criteria for current and future NBS programs and the need for adaptation. By at least two reviewers, 105 publications (systematic literature search, N = 77; manual search, N = 28) were screened for relevant content and, finally, 38 publications were evaluated. Limited by the study design of qualitative text analysis, no statistical evaluation was performed, but a structured collection of reported aspects of criticism and proposed improvements was instead collated. This revealed a set of general limitations of the WJ criteria, such as imprecise terminology, lack of measurability and objectivity, missing pediatric focus, and absent guidance on program management. Furthermore, it unraveled specific aspects of criticism on clinical, diagnostic, therapeutic, and economical aspects. A major obstacle was found to be the incompletely understood natural history and phenotypic diversity of rare diseases prior to NBS implementation, resulting in uncertainty about case definition, risk stratification, and indications for treatment. This gap could be closed through the systematic collection and evaluation of real-world evidence on the quality, safety, and (cost-)effectiveness of NBS, as well as the long-term benefits experienced by screened individuals. An integrated NBS public health program that is designed to continuously learn would fulfil these requirements, and a multi-dimensional framework for future NBS programs integrating medical, ethical, legal, and societal perspectives is overdue.

The paper aims to give an account of practical knowledge by outlining a hylomorphic and conceptualist account of intentional action in analogy to McDowell's conceptualist account of experience. On this view, practical concepts provide the ideal or formal structure that unifies a manifold of bodily movements into a single intentional action, and hence intentional actions are structured conceptually. - §1 sets out the basic features of this view in contrast to a common dualistic or two-component view of practical knowledge, as an "inner" mental state with propositional content that functions as the efficient cause of some bodily movement in the "external" world, and introduces the claim that practical knowledge is the constitutive form of intentional action. - §2 illustrates the hylomorphic unity of concept and movement in action, and thus (contra Dreyfus) the corporeality of practical reason, by means of an account of practical concept formation, on which both the formation and tradition of practical concepts take place in bodily movement iself. - §3 elucidates the concept of a self-conscious disposition or rational capacity for action, actualizations of which are characterized by a syllogistic structure that accounts for both the explanation and the justification of action and thereby renders intelligible in what sense practical judgment is internal to acting itself. - Skillful exercises of such capacities express a knowledge-how that manifests itself in practical representations. §4 characterizes representations of this kind as a perceptually situated recognition of a practical pattern that amounts to the imaginative anticipation of a movement form by which the agent determines their next steps; a practical perception of the agent's particular situation that is both normative and motivational for them. - §5 starts by developing an identity theory of practical truth, on which the conceptual content of a (true) practical judgment is numerically identical with the formal structure of a (good) action, and concludes with explaining the unity of four features commonly attributed to practical knowledge, viz. that it is at the same time descriptive, normative, causally productive, and non-observational (or self-conscious).

What is the role of intimacy in sex? The two culturally dominant views on this matter both share the implicit assumption that sex is genuinely intimate only when connected to romance, and hence that sex and intimacy stand in a contingent relationship: it is possible to have good sex without it. Liberals embrace this possibility and affirm the value of casual sex, while conservatives attempt to safeguard intimacy by insisting on romantic exclusivity. I reject their shared assumption and argue for a necessary connection between intimacy and sex, in that sexual activity as such aims at a specific form of intimacy, irrespective of whether it takes place in casual encounters or romantic relationships, and the difference between good and bad sex consists in whether this end is attained. To defend this view, I develop a general account of intimacy, as based on joint action, and apply it to isolate its specifically sexual form.

A central objection to McDowell’s conceptualism about empirical content concerns the fine-grained phenomenology of experience, which supposedly entails that the actual content of experience cannot be matched in its particularity by our concepts. While McDowell himself has answered this objection in recourse to the possibility of demonstrative concepts, his reply has engendered a plethora of further objections and is widely considered inadequate. I believe that McDowell’s critics underestimate the true force of his reply because they tend to read unrecognized empiricist presuppositions into his account of experience. To show this, I introduce a new hylomorphic reading of McDowell’s account of experience and argue that the objections to his reply all rest on a specific empiricist assumption, which is untenable because it conflates the form of experience with its content. Consequently, conceptualism so understood can resist all of these objections, as I attempt to show by systematizing and answering them.

In der Diskussion um personale Identität nehmen die einflussreichen Arbeiten Derek Parfits eine Sonderstellung ein, insofern Parfit nicht bestrebt ist, eines der gängigen Identitätskriterien zu verteidigen, sondern vielmehr behauptet, dass unsere alltäglichen wie philosophischen Vorstellungen von personaler Identität unrettbar inkohärent sind und deshalb aufgegeben werden sollten. In seinem Beitrag beleuchtet Sascha Settegast die verschiedenen Argumente, die Parfit für diese provokante These vorbringt, und unternimmt insbesondere den Versuch einer systematischen Dekonstruktion der wichtigsten Gedankenexperimente Parfits, die zeigen soll, dass sich diese Gedankenexperimente auf eine Weise auflösen lassen, die unsere alltäglichen Intuitionen über personale Identität intakt belässt. Settegast entwickelt dabei die Grundzüge einer Konzeption personaler Identität, die sich einerseits von den gängigen neo-lockeanischen und animalistischen Ansätzen abgrenzt und andererseits bewusst an den zeitgenössischen Neo-Aristotelismus in der Ethik anknüpft, wie er etwa bei Philippa Foot und Michael Thomp-son anzutreffen ist. Die diachrone numerische Identität menschlicher Personen gründet nach Settegasts Auffassung darin, dass der Verlauf ihres Lebens eine zeitliche Einheit aufweist, die dadurch bedingt ist, dass ihre Lebensführung die menschliche Lebensform auf eine individuell charakteristische Weise exemplifiziert. Insofern dies aber nur durch Kultivierung der Tugen-den zu erreichen ist, handelt es sich laut Settegast bei personaler Identität letztlich nicht um eine Tatsache, die einfach vorliegt oder nicht, sondern um eine Aufgabe, die uns als Menschen gegeben ist und wesentlich darin besteht, in bewusster Orientierung auf das gute Leben hin ein stabiles, sich zeitlich durchhaltendes Selbst allererst auszubilden.

On some accounts, prostitution is just another form of casual sex and as such not particularly harmful in itself, if regulated properly. I claim that, although casual sex in general is not inher-ently harmful, prostitution in fact is. To show this, I defend an account of sex as joint action characteristically aimed at sexual enjoyment, here understood as a tangible experience of com-munity among partners, and argue that prostitution fails to achieve this good by incentivizing partners to mistreat each other. To substantiate this claim, I explore ways in which prostitution fails on the virtues of temperance, respect, and sincerity.