The study of rare diseases has long been an area of challenge for medical researchers, with agonizingly slow movement towards improved understanding of pathophysiology and treatments compared with more common illnesses. The push towards evidence-based medicine (EBM), which prioritizes certain types of evidence over others, poses a particular issue when mapped onto rare diseases, which may not be feasibly investigated using the methodologies endorsed by EBM, due to a number of constraints. While other trial designs have been suggested to overcome (...) these limitations (with varying success), perhaps the most recent and enthusiastically adopted is the application of artificial intelligence to rare disease data. This paper critically examines the pitfalls of EBM (and its trial design offshoots) as it pertains to rare diseases, exploring the current landscape of AI as a potential solution to these challenges. This discussion is also taken a step further, providing philosophical commentary on the weaknesses and dangers of AI algorithms applied to rare disease research. While not proposing a singular solution, this article does provide a thoughtful reminder that no ‘one-size-fits-all’ approach exists in the complex world of rare diseases. We must balance cautious optimism with critical evaluation of new research paradigms and technology, while at the same time not neglecting the ever-important aspect of patient values and preferences, which may be challenging to incorporate into computer-driven models. (shrink)

Issues of reliability are claiming center-stage in the epistemology of machine learning. This paper unifies different branches in the literature and points to promising research directions, whilst also providing an accessible introduction to key concepts in statistics and machine learning – as far as they are concerned with reliability.

There is a current debate about if, and in what sense, machine learning systems used in the medical context need to be explainable. Those arguing in favor contend these systems require post hoc explanations for each individual decision to increase trust and ensure accurate diagnoses. Those arguing against suggest the high accuracy and reliability of the systems is sufficient for providing epistemic justified beliefs without the need for explaining each individual decision. But, as we show, both solutions have limitations—and it (...) is unclear either address the epistemic worries of the medical professionals using these systems. We argue these systems do require an explanation, but an institutional explanation. These types of explanations provide the reasons why the medical professional should rely on the system in practice—that is, they focus on trying to address the epistemic concerns of those using the system in specific contexts and specific occasions. But ensuring that these institutional explanations are fit for purpose means ensuring the institutions designing and deploying these systems are transparent about the assumptions baked into the system. This requires coordination with experts and end-users concerning how it will function in the field, the metrics used to evaluate its accuracy, and the procedures for auditing the system to prevent biases and failures from going unaddressed. We contend this broader explanation is necessary for either post hoc explanations or accuracy scores to be epistemically meaningful to the medical professional, making it possible for them to rely on these systems as effective and useful tools in their practices. (shrink)

This paper develops an account of how the implementation of ML models into healthcare settings requires revising the methodological apparatus of philosophical bioethics. On this account, ML models are cognitive interventions that provide decision-support to physicians and patients. Due to reliability issues, opaque reasoning processes, and information asymmetries, ML models pose inferential problems for them. These inferential problems lay the grounds for many ethical problems that currently claim centre-stage in the bioethical debate. Accordingly, this paper argues that the best way (...) to make progress in remedying these ethical problems is to distil their epistemic core and to identify appropriate epistemic norms as guardrails. The viability of this approach will be highlighted based on four key issues: trust, responsibility, paternalism, and fairness. In that respect, the paper also contributes to a more pronounced view of the specific methodological challenges for ethical theorizing, when the point of reference are complex statistical models that make predictions, rather than individual agents, acting for reasons. (shrink)

Explainable artificial intelligence (XAI) is an emerging, multidisciplinary field of research that seeks to develop methods and tools for making AI systems more explainable or interpretable. XAI researchers increasingly recognise explainability as a context-, audience- and purpose-sensitive phenomenon, rather than a single well-defined property that can be directly measured and optimised. However, since there is currently no overarching definition of explainability, this poses a risk of miscommunication between the many different researchers within this multidisciplinary space. This is the problem we (...) seek to address in this paper. We outline a framework, called Explanatory Pragmatism, which we argue has two attractive features. First, it allows us to conceptualise explainability in explicitly context-, audience- and purpose-relative terms, while retaining a unified underlying definition of explainability. Second, it makes visible any normative disagreements that may underpin conflicting claims about explainability regarding the purposes for which explanations are sought. Third, it allows us to distinguish several dimensions of AI explainability. We illustrate this framework by applying it to a case study involving a machine learning model for predicting whether patients suffering disorders of consciousness were likely to recover consciousness. (shrink)

The use of machine learning systems for decision-support in healthcare may exacerbate health inequalities. However, recent work suggests that algorithms trained on sufficiently diverse datasets could in principle combat health inequalities. One concern about these algorithms is that their performance for patients in traditionally disadvantaged groups exceeds their performance for patients in traditionally advantaged groups. This renders the algorithmic decisions unfair relative to the standard fairness metrics in machine learning. In this paper, we defend the permissible use of affirmative algorithms; (...) that is, algorithms trained on diverse datasets that perform better for traditionally disadvantaged groups. Whilst such algorithmic decisions may be unfair, the fairness of algorithmic decisions is not the appropriate locus of moral evaluation. What matters is the fairness of final decisions, such as diagnoses, resulting from collaboration between clinicians and algorithms. We argue that affirmative algorithms can permissibly be deployed provided the resultant final decisions are fair. (shrink)

This paper develops an account of the opacity problem in medical machine learning (ML). Guided by pragmatist assumptions, I argue that opacity in ML models is problematic insofar as it potentially undermines the achievement of two key purposes: ensuring generalizability and optimizing clinician–machine decision-making. Three opacity amelioration strategies are examined, with explainable artificial intelligence (XAI) as the predominant approach, challenged by two revisionary strategies in the form of reliabilism and the interpretability by design. Comparing the three strategies, I argue that (...) interpretability by design is most promising to overcome opacity in medical ML. Looking beyond the individual opacity amelioration strategies, the paper also contributes to a deeper understanding of the problem space and the solution space regarding opacity in medical ML. (shrink)

The initial successes in recent years in harnessing machine learning technologies to improve medical practice and benefit patients have attracted attention in a wide range of healthcare fields. Particularly, it should be achieved by providing automated decision recommendations to the treating clinician. Some hopes placed in such ML-based systems for healthcare, however, seem to be unwarranted, at least partially because of their inherent lack of transparency, although their results seem convincing in accuracy and reliability. Skepticism arises when the physician as (...) the agent responsible for the implementation of diagnosis, therapy, and care is unable to access the generation of findings and recommendations. There is widespread agreement that, generally, a complete traceability is preferable to opaque recommendations; however, there are differences about addressing ML-based systems whose functioning seems to remain opaque to some degree—even if so-called explicable or interpretable systems gain increasing amounts of interest. This essay approaches the epistemic foundations of ML-generated information specifically and medical knowledge generally to advocate differentiations of decision-making situations in clinical contexts regarding their necessary depth of insight into the process of information generation. Empirically accurate or reliable outcomes are sufficient for some decision situations in healthcare, whereas other clinical decisions require extensive insight into ML-generated outcomes because of their inherently normative implications. (shrink)