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Gloomy Prospects and Roller Coasters: Finding Coherence in Genome-Wide Association Studies

Carl F. Craver, Mikhail Dozmorov, Mark Reimers & Kenneth S. Kendler

Philosophy of Science 87 (5):1084-1095 (2020)

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Averaged versus individualized: pragmatic N-of-1 design as a method to investigate individual treatment response.Davide Serpico & Mariusz Maziarz - 2023 - European Journal for Philosophy of Science 13 (4):1-28.details Heterogeneous treatment effects represent a major issue for medicine as they undermine reliable inference and clinical decision-making. To overcome the issue, the current vision of precision and personalized medicine acknowledges the need to control individual variability in response to treatment. In this paper, we argue that gene-treatment-environment interactions (G × T × E) undermine inferences about individual treatment effects from the results of both genomics-based methodologies—such as genome-wide association studies (GWAS) and genome-wide interaction studies (GWIS)—and randomized controlled trials (RCTs). Then, (...) Download Export citation Bookmark
A Wolf in Sheep's Clothing: Idealisations and the aims of polygenic scores.Davide Serpico - 2023 - Studies in History and Philosophy of Science Part A 102 (C):72-83.details Research in pharmacogenomics and precision medicine has recently introduced the concept of Polygenic Scores (PGSs), namely, indexes that aggregate the effects that many genetic variants are predicted to have on individual disease risk. The popularity of PGSs is increasing rapidly, but surprisingly little attention has been paid to the idealisations they make about phenotypic development. Indeed, PGSs rely on quantitative genetics models and methods, which involve considerable theoretical assumptions that have been questioned on various grounds. This comes with epistemological and (...) Download Export citation Bookmark
Hypothesis-driven science in large-scale studies: the case of GWAS.Sumana Sharma & James Read - 2021 - Biology and Philosophy 36 (5):1-21.details It is now well-appreciated by philosophers that contemporary large-scale ‘-omics’ studies in biology stand in non-trivial relationships to more orthodox hypothesis-driven approaches. These relationships have been clarified by Ratti (2015); however, there remains much more to be said regarding how an important field of genomics cited in that work—‘genome-wide association studies’ (GWAS)—fits into this framework. In the present article, we propose a revision to Ratti’s framework more suited to studies such as GWAS. In the process of doing so, we introduce (...) Download Export citation Bookmark 2 citations
Challenges to Causal Classification in Psychiatry.Richard Link - unknowndetails Researchers attempting to explain and treat psychiatric disorders have long discussed the need for new disorder categories. A common proposal is to develop a causal classification system whereby psychiatric disorders are classified according to the causal processes that produce and sustain them. I evaluate the prospects for causal classification of psychiatric disorders. First, I motivate the need for a causal classification system of psychiatric disorders. Second, I introduce one framework for causal classification, the exemplar model. Third, I examine multiple forms (...) Download Export citation Bookmark

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