In this paper, we aim at rethinking the concept of obesity in a way that better captures the connection between underlying medical aspects, on the one hand, and an individual’s developmental history, on the other. Our proposal rests on the idea that obesity is not to be understood as a phenotypic trait or character; rather, obesity represents one of the many possible states of a more complex phenotypic trait that we call ‘energy metabolism.’ We argue that this apparently simple conceptual (...) shift can help solve important theoretical misconceptions regarding the genetics, epigenetics, and development of obesity. In addition, we show that our proposal can be fruitfully paired with the concept of developmental channeling of a trait, which connects to the study of the plasticity and canalization of complex traits. Finally, we discuss the potential impact of our approach on the assessment, treatment, and social narratives of obesity. (shrink)

In 1976, the Genetics Society of America published a document entitled “Resolution of Genetics, Race, and Intelligence.” This document laid out the Society’s position in the IQ controversy, particularly that on scientific and ethical questions involving the genetics of intellectual differences between human populations. Since the GSA was the largest scientific society of geneticists in the world, many expected the document to be of central importance in settling the controversy. Unfortunately, the Resolution had surprisingly little influence on the discussion. In (...) 1979, William Provine analyzed the possible factors that decreased the impact of the Resolution, among them scientists’ limited understanding of the relationship between science and ethics. Through the analysis of unpublished versions of the Resolution and exchanges between GSA members, I will suggest that the limited impact of the statement likely depended on a shift in the aims of the GSA due to the controversies that surrounded the preparation of the document. Indeed, the demands of the membership made it progressively more impartial in both scientific and political terms, decreasing its potential significance for a wider audience. Notably, the troubled history of the Resolution raises the question of what can make effective or ineffective the communication between scientists and the public—a question with resonance in past and present discussions on topics of social importance. (shrink)

This paper challenges the common assumption that some phenotypic traits are quantitative while others are qualitative. The distinction between these two kinds of traits is widely influential in biological and biomedical research as well as in scientific education and communication. This is probably due to both historical and epistemological reasons. However, the quantitative/qualitative distinction involves a variety of simplifications on the genetic causes of phenotypic variability and on the development of complex traits. Here, I examine three cases from the life (...) sciences that show inconsistencies in the distinction: Mendelian traits, Mendelian diseases, and polygenic mental disorders. I show that these traits can be framed both quantitatively and qualitatively depending, for instance, on the methods through which they are investigated and on specific epistemic purposes. This suggests that the received view of quantitative and qualitative traits has a limited heuristic power—limited to some local contexts or to the specific methodologies adopted. Throughout the paper, I provide directions for framing phenotypes beyond the quantitative/qualitative distinction. I conclude by pointing at the necessity of developing a principled characterisation of what phenotypic traits, in general, are. (shrink)

ITA: In questo articolo analizzerò la differenza tra il concetto di ereditarietà e quello di ereditabilità. In primo luogo, evidenzierò come i due concetti derivino storicamente da differenti tradizioni nello studio della variabilità fenotipica e del rapporto genotipo-fenotipo. Secondariamente, illustrerò gli aspetti teorici e metodologici alla base dei due concetti, che sono peraltro collegati a differenti aree delle scienze biologiche. Infine, spiegherò brevemente come si sia recentemente tentato, con molte difficoltà, di connettere lo studio dei meccanismi dell’ereditarietà allo studio dell’ereditabilità. (...) Nel discutere le questioni di cui sopra, farò riferimento a tratti psicologici come l’intelligenza dal momento che è proprio dallo studio di questo tipo di tratti che sono emersi i maggiori problemi teorici e metodologici, nonché le controversie più intense. -/- ENG: In this paper, I analyse the distinction between heredity and heritability. First, I highlight that the two concepts derive from different historical traditions in the study of phenotypic variability and of the genotype-phenotype relationship. Second, I illustrate the theoretical and methodological aspects connected to the two concepts, which are traditionally associated with different areas of biological research. Then, I focus on recent attempts aimed at connecting with each other the analysis of heredity and of heritability. In my discussion, I shall often refer to human psychological traits such as intelligence. Indeed, most theoretical and methodological discussions have emerged with respect to the study of these traits. (shrink)

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, (...) we argue that N-of-1 trials can be a solution to overcome difficulties in handling individual variability in treatment response. Although this type of trial has been suggested as a promising strategy to assess individual treatment effects, it nonetheless has limitations that limit its use in everyday clinical practice. We analyze the existing variability within the designs of N-of-1 trials in terms of a continuum where each design prioritizes epistemic and pragmatic considerations. We then support wider use of the designs located at the pragmatic end of the explanatory-pragmatic continuum. (shrink)

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 (...) to the philosophical literature novel exploratory experiments in (phospho)proteomics, and demonstrate how these experiments interplay with the above considerations. (shrink)