In the near future developments in non-invasive prenatal testing may soon provide couples with the opportunity to test for and diagnose a much broader range of heritable and congenital conditions than has previously been possible. Inevitably, this has prompted much ethical debate on the possible implications of NIPT for providing couples with opportunities for reproductive choice by way of routine prenatal screening. In view of the possibility to test for a significantly broader range of genetic conditions with NIPT, the European (...) Society of Human Genetics and American Society of Human Genetics recommend that, pending further debate, prenatal screening for reproductive choice should only be offered where concerning serious congenital conditions and childhood disorders. In support of this recommendation, the ESHG and ASHG discuss a number of ethical issues on which they prompt further debate: the informational privacy of the future child, the trivialization of abortion, the risk of information overload, and issues of distributive justice. This paper responds to this call with further reflection on each ethical issue and how it relates to the moral justification of providing couples with opportunities for meaningful reproductive choice. The paper concludes that whilst there may be good reasons for qualifying the scope of any unsolicited prenatal screening offer to serious congenital conditions and childhood disorders, if prenatal screening is justified for providing couples with opportunities for meaningful reproductive choice, then health services may have obligations to empower couples with the same opportunity where concerning other conditions. (shrink)

Developments in Non-Invasive Prenatal Testing (NIPT) and cell-free fetal DNA analysis raise the possibility that antenatal services may soon be able to support couples in non-invasively testing for, and diagnosing, an unprecedented range of genetic disorders and traits coded within their unborn child’s genome. Inevitably, this has prompted debate within the bioethics literature about what screening options should be offered to couples for the purpose of reproductive choice. In relation to this problem, the European Society of Human Genetics (ESHG) and (...) American Society of Human Genetics (ASHG) tentatively recommend that any expansion of this type of screening, as facilitated by NIPT, should be limited to serious congenital and childhood disorders. In support of this recommendation, the ESHG and ASHG cite considerations of distribution justice. Notably, however, an account of justice in the organization and provision of this type of screening which might substantiate this recommendation has yet to be developed. This paper attempts to redress this oversight through an investigation of Norman Daniels’ theory of Just health: meeting health needs fairly. In line with this aim, the paper examines what special moral importance (for Just health) screening for the purpose of reproductive choice might have where concerning serious congenital and childhood disorders in particular. The paper concludes that screening for reproductive choice where concerning serious congenital and childhood disorders may be important for providing women with fair opportunity to protect their health (by either having or not having an affected child). (shrink)

In order to effectively communicate information, the choice of representation is important. Ideally, a chosen representation will aid readers in making desired inferences. In this paper, we develop the theory of observation: what it means for one statement to be observable from another. Using observability, we give a formal characterization of the observational advantages of one representation of information over another. By considering observational advantages, people will be able to make better informed choices of representations of information. To demonstrate the (...) benefit of observation and observational advantages, we apply these concepts to set theory and Euler diagrams. In particular, we can show that Euler diagrams have significant observational advantages over set theory. This formally justifies Larkin and Simon’s claim that “a diagram is worth ten thousand words”. (shrink)

The development of diagrammatic logics is strongly motivated by the desire to make formal reasoning accessible to broad audiences. One major research problem, for which surprisingly little progress has been made, is to understand how to choose between semantically equivalent diagrams from the perspective of human cognition. The particular focus of this paper is on choosing between diagrams that represent either the presence or absence of individuals. To understand how to best make this choice, we conducted an empirical study. We (...) found that representing the presence of individuals supported task performance either significantly better than, or no worse than, representing the absence of individuals. The particularly striking feature of our results was that representing the absence of individuals in a way that makes the diagram highly cluttered is detrimental to human cognition. As a result, diagrams with this feature should be avoided, but diagrams using presence or low-cluttered absence can be used to support cognition in the context of the tasks performed in our study. (shrink)

Free rides and observational advantages occur in visualizations when they reveal facts that must be inferred from an alternative representation. Understanding whether these concepts correspond to cognitive advantages is important: do they facilitate information extraction, saving the ‘deductive cost’ of making inferences? This paper presents the first evaluations of free rides and observational advantages in visualizations of sets compared to text. We found that, for Euler and linear diagrams, free rides and observational advantages yielded significant improvements in task performance. For (...) Venn diagrams, whilst their observational advantages yielded significant performance benefits over text, this was not universally true for free rides. The consequences are two-fold: more research is needed to establish when free rides are beneficial, and the results suggest that observational advantages better explain the cognitive advantages of diagrams over text. A take-away message is that visualizations with observational advantages are likely to be cognitively advantageous over competing representations. (shrink)

International guidelines recommend that prenatal screening for fetal abnormalities should only be offered within a non-directive framework aimed at enabling women in making meaningful reproductive choices. Whilst this position is widely endorsed, developments in cell-free fetal DNA based Non-Invasive Prenatal Testing are now raising questions about its continued suitability for guiding screening policy and practice. This issue is most apparent within debates on the scope of the screening offer. Implied by the aim of enabling meaningful reproductive choices is the idea (...) that screening services should support women in accessing prenatal tests that best enable them to realize the types of reproductive choice that they find important. However, beyond whatever options meet the quality standards required for facilitating an informed decision, the remaining criteria of facilitating autonomous choice is strictly non-directive. As a result, policy makers receive little indication prior to consultation with each individual woman, about what conditions should be prioritized during the offer of screening. In this paper we try to address this issue by using the capabilities approach to further specify the non-directive aim of enabling meaningful reproductive choice. The resulting framework is then used to assess the relative importance of offering prenatal screening where concerning different types of genetic condition. We conclude that greater priority may be ascribed to offering prenatal screening for conditions that more significantly diminish a woman’s central capabilities. It follows that serious congenital and earlier-onset conditions are more likely to fulfill these criteria. (shrink)

In this paper, we introduce Speedith which is an interactive diagrammatic theorem prover for the well-known language of spider diagrams. Speedith provides a way to input spider diagrams, transform them via the diagrammatic inference rules, and prove diagrammatic theorems. Speedith’s inference rules are sound and complete, extending previous research by including all the classical logic connectives. In addition to being a stand-alone proof system, Speedith is also designed as a program that plugs into existing general purpose theorem provers. This allows (...) for other systems to access diagrammatic reasoning via Speedith, as well as a formal verification of diagrammatic proof steps within standard sentential proof assistants. We describe the general structure of Speedith, the diagrammatic language, the automatic mechanism that draws the diagrams when inference rules are applied on them, and how formal diagrammatic proofs are constructed. (shrink)

International guidelines recommend that prenatal screening for fetal abnormalities should only be offered within a non-directive framework aimed at enabling women in making meaningful reproductive choices. Whilst this position is widely endorsed, developments in cell-free fetal DNA based Non-Invasive Prenatal Testing are now raising questions about its continued suitability for guiding screening policy and practice. This issue is most apparent within debates on the scope of the screening offer. Implied by the aim of enabling meaningful reproductive choices is the idea (...) that screening services should support women in accessing prenatal tests that best enable them to realize the types of reproductive choice that they find important. However, beyond whatever options meet the quality standards required for facilitating an informed decision, the remaining criteria of facilitating autonomous choice is strictly non-directive. As a result, policy makers receive little indication prior to consultation with each individual woman, about what conditions should be prioritized during the offer of screening. In this paper we try to address this issue by using the capabilities approach to further specify the non-directive aim of enabling meaningful reproductive choice. The resulting framework is then used to assess the relative importance of offering prenatal screening where concerning different types of genetic condition. We conclude that greater priority may be ascribed to offering prenatal screening for conditions that more significantly diminish a woman’s central capabilities. It follows that serious congenital and earlier-onset conditions are more likely to fulfill these criteria. (shrink)