TY - JOUR
T1 - Do we measure or compute polygenic risk scores?
T2 - Why language matters
AU - Penders, Bart
AU - Janssens, A Cecile J W
N1 - Funding Information:
We thank Lotte Thissen for providing valuable and constructive feedback on earlier versions of our manuscript.
Publisher Copyright:
© 2021, The Author(s), under exclusive licence to Springer-Verlag GmbH, DE part of Springer Nature.
PY - 2022/5
Y1 - 2022/5
N2 - Here, we argue that polygenic risk scores (PRSs) are different epistemic objects as compared to other biomarkers such as blood pressure or sodium level. While the latter two may be subject to variation, measured inaccurately or interpreted in various ways, blood flow has pressure and sodium is available in a concentration that can be quantified and visualised. In stark contrast, PRSs are calculated, compiled or constructed through the statistical assemblage of genetic variants. How researchers frame and name PRSs has consequences for how we interpret and value their results. We distinguish between the tangible and inferential understanding of PRS and the corresponding languages of measurement and computation, respectively. The conflation of these frames obscures important questions we need to ask: what PRS seeks to represent, whether current ways of 'doing PRS' are optimal and responsible, and upon what we base the credibility of PRS-based knowledge claims.
AB - Here, we argue that polygenic risk scores (PRSs) are different epistemic objects as compared to other biomarkers such as blood pressure or sodium level. While the latter two may be subject to variation, measured inaccurately or interpreted in various ways, blood flow has pressure and sodium is available in a concentration that can be quantified and visualised. In stark contrast, PRSs are calculated, compiled or constructed through the statistical assemblage of genetic variants. How researchers frame and name PRSs has consequences for how we interpret and value their results. We distinguish between the tangible and inferential understanding of PRS and the corresponding languages of measurement and computation, respectively. The conflation of these frames obscures important questions we need to ask: what PRS seeks to represent, whether current ways of 'doing PRS' are optimal and responsible, and upon what we base the credibility of PRS-based knowledge claims.
U2 - 10.1007/s00439-021-02262-7
DO - 10.1007/s00439-021-02262-7
M3 - Article
C2 - 33587168
SN - 0340-6717
VL - 141
SP - 1093
EP - 1097
JO - Human Genetics
JF - Human Genetics
IS - 5
ER -