Current Status of Genetic Counselling for Rare Diseases in Spain

Genetic Counselling is essential for providing personalised information and support to patients with Rare Diseases (RD). Unlike most other developed countries, Spain does not recognize geneticists or genetic counsellors as healthcare professionals Thus, patients with RD face not only challenges associated with their own disease but also deal with lack of knowledge, uncertainty, and other psychosocial issues arising as a consequence of diagnostic delay. In this review, we highlight the importance of genetic counsellors in the field of RD as well as evaluate the current situation in which rare disease patients receive genetic services in Spain. We describe the main units and strategies at the national level assisting patients with RD and we conclude with a series of future perspectives and unmet needs that Spain should overcome to improve the management of patients with RD.

Evidentiary vacuum, epistemic communities and rare disease policymaking in India: an evolutionary policy perspective

There are divergent views among scholars and policymakers about the nature of permissible evidence for policymaking. It is often not feasible to construct a policy system exclusively based on objective research findings, particularly for rare diseases where conventionally accepted evidence remains a rarity. Evolutionary theories in such cases offer an overarching framework to represent the various heterodox understandings of what constitutes evidence and how evidence-based policies can be formulated under knowledge uncertainty. We conduct an empirical investigation of India’s rare disease policymaking endeavour in evolutionary perspective. The existing rare diseases policy architecture in India, in our view, reflects a ‘rationalistic’ framework. It intends to act only on ‘hard evidence’ to make, what may be called, an optimum decision, rather than initiating a ‘good enough’ policy decision based on existing (limited, soft) evidence and improving it incrementally through learning and trial-and-error. Our findings suggest that in the presence of ‘evidentiary vacuum’ and knowledge uncertainty, broadening the contours of epistemic communities, to include ‘lived experiences’ of the ‘lay’-stakeholders, can be effective in formulating an adaptive policy framework, which would ‘learn’ to better fit with the dynamic environment through inclusive deliberations, and trial-and-error.

Uncertainty, Profit, and the Limits of Markets

The neoclassical market model is the overwhelming basis for contemporary views of markets as fair, efficient, or both. But is it an appropriate starting point? The article draws on Frank Knight’s 1920s work on the economics of uncertainty to show that the ideal of perfect competition conceals a tacit trade-off between equality and certainty. Largely undetected, this trade-off continues to govern financialized capitalist democracies, evading normative and political debate. By explaining how markets and firms resolve the problem of uncertainty, Knight shows that all supposed market benefits, even allocative efficiency, are not costless to society. More specifically, Knight argued that modern markets are premised on a tacit agreement between a handful of “daring” entrepreneurs and the “risk-averse” public: the former agree to carry the uncertainties of business-life in return for a substantially larger share of its power and rewards. Despite the highly static assumptions of neoclassicism, therefore, and its linked assumption of perfect knowledge, uncertainty is far from absent in modern economics. It is built into firms and markets and manifests itself as a steep social and material hierarchy.

Pertinence of Predictive Models as Regards the Behavior of Observed Biological and Artificial Phenomena

In this assessment, we have made an effort of synthesis on the role of theoretical and observational investigations in the analysis of the concepts and functioning of different natural biological and artificial phenomena. In this context, we pursued the objective of examining published works relating to the behavioral prediction of phenomena associated with its observation. We have examined examples from the literature concerning phenomena with known behaviors that associated to knowledge uncertainty as well as cases concerning phenomena with unknown and changing random behaviors linked to random uncertainty. The concerned cases are relative to brain functioning in neuroscience, modern smart industrial devices, and health care predictive endemic protocols. As predictive modeling is very concerned by the problematics relative to uncertainties that depend on the degree of matching in the link prediction-observation, we investigated first how to improve the model to match better the observation. Thus, we considered the case when the observed behavior and its model are contrasting, that implies the development of revised or amended models. Then we studied the case concerning the practice of modeling for the prediction of future behaviors of a phenomenon that is well known, and owning identified behavior. For such case, we illustrated the situation of prediction matched to observation operated in two cases. These are the Bayesian Brain theory in neuroscience and the Digital Twins industrial concept. The last investigated circumstance concerns the use of modeling for the prediction of future behaviors of a phenomenon that is not well known, or owning behavior varying arbitrary. For this situation, we studied contagion infections with an unknown mutant virus where the prediction task is very complicated and would be constrained only to adjust the principal clinical observation protocol. Keywords: prediction, observation, Bayesian, neuroscience, brain functioning, mutant virus

Detection of a local Mycobacterium bovis reservoir using cattle surveillance data

The incidence of bovine tuberculosis (TB, caused by Mycobacterium bovis) in cattle has been associated with TB in badgers ( Meles meles) in parts of England. The aim was to identify badger associated M. bovis reservoirs in the Edge Area, between the High and Low Risk Areas for cattle TB. Data from badger TB surveys were sparse. Therefore, a definition for a local M. bovis reservoir potentially shared by cattle and badgers was developed using cattle TB surveillance data. The performance of the definition was estimated through Latent Class Analysis using badger TB survey data. Spatial units (25 km ) in the Edge Area were classified as having a reservoir if they had i) at least one OTF-W (Officially Tuberculosis Free – Withdrawn) incident in a cattle herd not attributed to cattle movement in the previous two years, ii) more OTF-W incidents than Officially Tuberculosis Free – Suspended (OTF-S) incidents in the previous two years and iii) at least one TB incident (OTF-S or OTF-W) in at least three of the previous seven years. Approximately twenty percent of the Edge Area was classified as having a local M. bovis reservoir using the cattle-based definition. Assuming 15% TB prevalence in Edge Area badgers, sensitivity for the local M. bovis reservoir definition varied from 25.7% (95% Credible Interval (CrI) 10.7 to 85.1 %) to 64.8 % (95% CrI 48.1 to 88.0 %). Specificity was 91.9% (CrI 83.6 to 97.4 %). Over ninety percent of the local reservoir was in stable endemic TB areas identified through previous work and its spatial distribution was largely consistent with local veterinary knowledge. Uncertainty in the reservoir spatial distribution was explored through its recalculation in spatial units shifted in different directions. We recommend that the definition is re-evaluated as further data on badger infection with M. bovis becomes available.

Differences in knowledge, uncertainty, and social context in four medical TV series from Taiwan, Japan, South Korea and the United States

Television series that mix real science and imagery science make up a fascinating genre in popular science. While previous research on entertainment media focuses on Western examples and seldom includes Asian TV series, this study explores how medicine is portrayed in four TV series located in a hospital setting which were broadcasted in Taiwan. Yet, they were produced in different cultures: Taiwan, Japan, South Korea and the United States. We found that the emphasis is more on the social contexts of medicine than on factual medical information. Yet, fictional TV series may be crucial for contextualizing science and science-based medicine.