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. (shrink)

Throughout the biological and biomedical sciences there is a growing need for, prescriptive ‘minimum information’ (MI) checklists specifying the key information to include when reporting experimental results are beginning to find favor with experimentalists, analysts, publishers and funders alike. Such checklists aim to ensure that methods, data, analyses and results are described to a level sufficient to support the unambiguous interpretation, sophisticated search, reanalysis and experimental corroboration and reuse of data sets, facilitating the extraction of maximum value from data sets (...) them. However, such ‘minimum information’ MI checklists are usually developed independently by groups working within representatives of particular biologically- or technologically-delineated domains. Consequently, an overview of the full range of checklists can be difficult to establish without intensive searching, and even tracking thetheir individual evolution of single checklists may be a non-trivial exercise. Checklists are also inevitably partially redundant when measured one against another, and where they overlap is far from straightforward. Furthermore, conflicts in scope and arbitrary decisions on wording and sub-structuring make integration difficult. This presents inhibit their use in combination. Overall, these issues present significant difficulties for the users of checklists, especially those in areas such as systems biology, who routinely combine information from multiple biological domains and technology platforms. To address all of the above, we present MIBBI (Minimum Information for Biological and Biomedical Investigations); a web-based communal resource for such checklists, designed to act as a ‘one-stop shop’ for those exploring the range of extant checklist projects, and to foster collaborative, integrative development and ultimately promote gradual integration of checklists. (shrink)

Karl Popper rightly contests the possibility of a verification of basic statements. At the same time he strictly believes in the possibility of growth of empirical knowledge. Knowledge growth, however, is only possible if empirical theories can be falsified. This raises the question, how theories can be falsified, if a verification of those statements that falsify theories – i.e. basic statements – is not possible. This problem is often referred to as the “basic problem” or “problem of the empirical basis”. (...) In this paper I show that – from a logical point of view – a falsification of theories is possible without a verification of basic state-ments. Furthermore I show that knowledge growth in the empirical sciences will be possible if two assumptions are valid. These assumptions can neither be proven nor falsified. However, they have to be postulated by everybody in eve-ryday life. (shrink)

Heiko Puls’ work Sittliches Bewusstsein und Kategorischer Imperativ in Kants Grundlegung: Ein Kommentar zum dritten Abschnitt, presents an attempt to show that, in the Groundwork of the Metaphysics of Morals, Kant’s argumentation for the objective value of the categorical imperative is almost based upon the same principle as the one presented in the second Critique. More precisely, Puls claims that, like in the Critique of Practical Reason, the Groundwork operates with some kind of fact of reason-theory, which means that (...) our consciousness of the moral law is the ratio cognoscendi of our freedom of will. Accordingly, there is no conclusion from a kind of non-moral consciousness of freedom to the freedom of will and from here to the objective value of the categorical imperative, as many interpreters assume. Due to the ambitiousness of his main thesis and his detailed and subtle way of arguing, Puls’ work represents an important and innovative contribution to recent research on Kant’s Groundwork. Nevertheless, his interpretations sometimes seem to favour analysis of loose philological relationships over closer looks on the contexts of passages. Or he focuses excessively on isolated textual evidences for his readings without appropriately recognising the various other evidences against it. In what follows, I give examples for this criticism. (shrink)

No two individuals with the autism diagnosis are ever the same—yet many practitioners and parents can recognize signs of ASD very rapidly with the naked eye. What, then, is this phenotype of autism that shows itself across such distinct clinical presentations and heterogeneous developments? The “signs” seem notoriously slippery and resistant to the behavioral threshold categories that make up current assessment tools. Part of the problem is that cognitive and behavioral “abilities” typically are theorized as high-level disembodied and modular functions—that (...) are assessed discretely (impaired, normal, enhanced) to define a spectral syndrome. Even as biology reminds us that organic developing bodies are not made up of independent switches, we remain often seduced by the simplicity of mechanistic and cognitive models. Developmental disorders such as autism have accordingly been theorized as due to different modular dysfunctions—typically of cortical origin, i.e., failures of “theory of mind” (Baron-Cohen et al., 1985), of the “mirror neuron system” (Ramachandran and Oberman, 2006), of “weak central coherence” (Happe and Frith, 2006) or of the balance of “empathizing” and “systemizing” (Baron-Cohen, 2009), just to list a few. -/- The broad array of autonomic (Ming et al., 2005; Cheshire, 2012) and sensorimotor (Damasio and Maurer, 1978; Maurer and Damasio, 1982; Donnellan and Leary, 1995; Leary and Hill, 1996; Donnellan and Leary, 2012; Donnellan et al., 2012) differences experienced and reported by people with autism have by such theories typically been sidelined as “co-morbidities,” possibly sharing genetic causes, but rendered as incidental and decisively behaviorally irrelevant symptoms—surely disconnected from cognition. But what if the development of cortically based mental processes and autonomous control relies on the complexities and proper function of the peripheral nervous systems? Through such an “embodied” lens the heterogeneous symptoms of autism invites new interpretations. We propose here that many behavioral-level findings can be re-defined as downstream effects of how developing nervous systems attempt to cope and adapt to the challenges of having various noisy, unpredictable, and unreliable peripheral inputs. (shrink)

Intended and merely foreseen consequences: The psychology of the ‘cause or allow’ offence. A short report for the Socio-Legal Community on ESRC Grant RES-000-22-3114.

There are two competing theoretical frameworks with which cognitive sciences examines how people reason. These frameworks are broadly categorized into logic and probability. This paper reports two applied experiments to test which framework explains better how people reason about evidence in criminal cases. Logical frameworks predict that people derive conclusions from the presented evidence to endorse an absolute value of certainty such as ‘guilty’ or ‘not guilty’ (e.g., Johnson-Laird, 1999). But probabilistic frameworks predict that people derive conclusions from the presented (...) evidence in order that they may use knowledge of prior instances to endorse a conclusion of guilt which varies in certainty (e.g., Tenenbaum, Griffiths, & Kemp, 2006). Experiment 1 showed that reasoning about evidence of prior instances, such as disclosed prior convictions, affected participants’ underlying ratings of guilt. Participants’ guilt ratings increased in certainty according to the number of disclosed prior convictions. Experiment 2 showed that participants’ reasoning about evidence of prior convictions and some forensic evidence tended to lead participants to endorse biased ‘guilty’ verdicts when rationally the evidence does not prove guilt. Both results are predicted by probabilistic frameworks. The paper considers the implications for logical and probabilistic frameworks for reasoning in the real world. (shrink)

The aim of this paper is to explore a pragmatic approach to hope and the ethics of belief that allows rational hope against hope. Hope against hope is hope that goes beyond what the evidence supports by hoping for something that is both highly unlikely and highly valuable. However, this could take different forms. One could either hope against the evidence or merely go beyond it; the evidence could be inconclusive or conclusive, conflicting or clear, misleading or plain, absent or (...) neutral. Hope against hope then covers everything from hoping for something that appears unlikely to hoping for something that appears impossible, judging by the available evidence. However, there is a very long tradition of criticizing hope for being false or irrational. But hope can only be false or irrational if it is subject to rational assessment. This presupposes that it is appropriate to ask for a reason or a justification for hoping, since one can be answerable or responsible for hoping. Moreover, this typically assumes that hopes can be changed in response to reasons. False hopes, notably, should be given up (if possible). However, if hope is subject to rational assessment, it is also possible for hope to be rational or justified. Indeed, I will explore how practical reasons or pragmatic considerations may justify hope against hope, sketching criteria for rational hope that allow hope against hope. Section I introduces evidentialism and pragmatism regarding belief. Sections II and III discuss whether or not rational hope against hope is compatible with evidentialism, favoring a pragmatist approach to hope and belief. Section IV discusses evidentialism and pragmatism, whereas sections V-VII sketch constraints on pragmatism and rational hope. (shrink)