A Wolf in Sheep's Clothing
Idealisations and the aims of polygenic scores
Bibliographic Data
| ID | 10798151 |
|---|---|
| Authors | Davide Serpico (0000-0003-3997-3056) |
| Year | 2023 |
| Volume | 102 |
| Pages | 72-83 |
| Publication date | 2023-12-01 |
| Peer Reviewed | Yes |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Studies in History and Philosophy of Science (JOURNAL) |
| Journal identifiers | ISSN: 0039-3681 • E-ISSN: 1879-2510 |
| Publisher | Elsevier BV (PUBLISHER) |
| DOI | 10.1016/j.shpsa.2023.10.006 |
| PMID | 37907020 |
| OpenAlex | W4388095474 |
| Language | EN |
| Citations received | 1 |
| References cited | 105 |
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 ethical concerns about the use of PGSs in clinical decision-making. In this paper, I investigate to what extent idealisations in genetics models can impact the data gathering and clinical interpretation of genomics findings, particularly the calculation and predictive accuracy of PGSs. Although idealisations are considered ineliminable components of scientific models, they may be legitimate or not depending on the epistemic aims of a model. I thus analyse how various idealisations have been introduced in classical models and progressively readapted throughout the history of genetic theorising. Notably, this process involved important changes in the epistemic purpose of such idealisations, which raises the question of whether they are legitimate in the context of contemporary genomics
Bioethics · Biology · Context (archaeology · Epistemology · Interpretation (philosophy · Popularity · Precision medicine · Sociology · Computer Science · Genetic Associations and Epidemiology · Genomics and Rare Diseases · Pharmacogenetics and Drug Metabolism · Philosophy · Psychology · Social Psychology · Genetics
The inheritance of liability to certain diseases, estimated from the incidence among relatives
XV.—The Correlation between Relatives on the Supposition of Mendelian Inheritance.
Genetic Influence on Human Psychological Traits
The Fourth Law of Behavior Genetics
An Expanded View of Complex Traits
Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals
Which terms should be used to describe autism? Perspectives from the UK autism community
Clinical use of current polygenic risk scores may exacerbate health disparities
Genetic nature or genetic nurture? Introducing social genetic parameters to quantify bias in polygenic score analyses
Causation and Single Nucleotide Polymorphism Heritability
Factors and Taxa, Traits and Types, Differences of Degree and Differences in Kind
Autism is me
Across the great divide
Integrating psychology and neuroscience
Thinking about idealization, abstraction and scientific models
Idealization and abstraction
Genetics on the neurodiversity spectrum
New historical and philosophical perspectives on quantitative genetics
Half a century later and we're back where we started
Permissible idealizations for the purpose of prediction
Three legs of the missing heritability problem
Idealization, representation, and explanation in the sciences
Beyond descriptive accuracy
On the causal interpretation of heritability from a structural causal modeling perspective
Galton's Quincunx
Proportionality of single nucleotide causation
Gloomy Prospects and Roller Coasters
The Idealization of Causation in Mechanistic Explanation
Idealization and Many Aims
Crossing the Threshold
Prediction Versus Accommodation and the Risk of Overfitting
Are More Details Better? On the Norms of Completeness for Mechanistic Explanations
Quantitative science and the definition of measurement in psychology
Value judgments in a Covid-19 vaccination model
The paradox of intelligence
| Unique citing works | 1 |
|---|---|
| Citations per year | 1 |
| Citation span | 2026 - 2026 (1) |
| Citation velocity | current |
| Highly cited | No |
| Citation types | Neutral: 1 |