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Commonly used estimates of the genetic contribution to disease are subject to the same fallacies as bad luck estimates

Björk, Jonas LU ; Andersson, Tomas and Ahlbom, Anders (2019) In European Journal of Epidemiology 34(11). p.987-992
Abstract

The scientific debate following the initial formulation of the “bad luck” hypothesis in cancer development highlighted how measures based on analysis of variance are inappropriately used for risk communication. The notion of “explained” variance is not only used to quantify randomness, but also to quantify genetic and environmental contribution to disease in heritability coefficients. In this paper, we demonstrate why such quantifications are generally as problematic as bad luck estimates. We stress the differences in calculation and interpretation between the heritability coefficient and the population attributable fraction, the estimated fraction of all disease events that would not occur if an intervention could successfully prevent... (More)

The scientific debate following the initial formulation of the “bad luck” hypothesis in cancer development highlighted how measures based on analysis of variance are inappropriately used for risk communication. The notion of “explained” variance is not only used to quantify randomness, but also to quantify genetic and environmental contribution to disease in heritability coefficients. In this paper, we demonstrate why such quantifications are generally as problematic as bad luck estimates. We stress the differences in calculation and interpretation between the heritability coefficient and the population attributable fraction, the estimated fraction of all disease events that would not occur if an intervention could successfully prevent the excess genetic risk. We recommend using the population attributable fraction when communicating results regarding the genetic contribution to disease, as this measure is both more relevant from a public health perspective and easier to understand.

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author
; and
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
Epidemiology, Etiologic fraction, Genetic studies, Public health
in
European Journal of Epidemiology
volume
34
issue
11
pages
987 - 992
publisher
Springer
external identifiers
  • scopus:85074505391
  • pmid:31641918
ISSN
0393-2990
DOI
10.1007/s10654-019-00573-8
project
Nya statistiska ansatser för att bedöma betydelsen av selektion och variation i befolkningsbaserade kohort- och screeningundersökningar
language
English
LU publication?
yes
id
c03447eb-b69d-45f4-b921-f79bf83a6f3c
date added to LUP
2019-11-22 12:55:01
date last changed
2024-05-15 02:16:20
@article{c03447eb-b69d-45f4-b921-f79bf83a6f3c,
  abstract     = {{<p>The scientific debate following the initial formulation of the “bad luck” hypothesis in cancer development highlighted how measures based on analysis of variance are inappropriately used for risk communication. The notion of “explained” variance is not only used to quantify randomness, but also to quantify genetic and environmental contribution to disease in heritability coefficients. In this paper, we demonstrate why such quantifications are generally as problematic as bad luck estimates. We stress the differences in calculation and interpretation between the heritability coefficient and the population attributable fraction, the estimated fraction of all disease events that would not occur if an intervention could successfully prevent the excess genetic risk. We recommend using the population attributable fraction when communicating results regarding the genetic contribution to disease, as this measure is both more relevant from a public health perspective and easier to understand.</p>}},
  author       = {{Björk, Jonas and Andersson, Tomas and Ahlbom, Anders}},
  issn         = {{0393-2990}},
  keywords     = {{Epidemiology; Etiologic fraction; Genetic studies; Public health}},
  language     = {{eng}},
  number       = {{11}},
  pages        = {{987--992}},
  publisher    = {{Springer}},
  series       = {{European Journal of Epidemiology}},
  title        = {{Commonly used estimates of the genetic contribution to disease are subject to the same fallacies as bad luck estimates}},
  url          = {{http://dx.doi.org/10.1007/s10654-019-00573-8}},
  doi          = {{10.1007/s10654-019-00573-8}},
  volume       = {{34}},
  year         = {{2019}},
}