Evidence map›Paper›PMID 40473778›Full record

ReviewEuropean journal of human genetics : EJHG2025

Genetic tests as prophecy: understanding self-defeating and self-fulfilling mechanisms in (predictive) genetic testing.

Mayli Mertens, Angus Clarke

Abstract readReview
In one paragraph

Review in European journal of human genetics : EJHG, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Genomic medicine in full bloom: a summer farewell issue.European journal of human genetics : EJHG · 2025
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

2 authors.

Mayli MertensCenter for Ethics, Department of Philosophy, University of Antwerp, Antwerp, Belgium. mayli@atlascenter.org.ORCID 0000-0002-9883-9167
Angus ClarkeDivision of Cancer & Genetics, Cardiff University School of Medicine, Institute of Medical Genetics, University Hospital of Wales, Cardiff, UK.ORCID 0000-0002-1200-9286

Funding

RCUK | Medical Research Council (MRC) MR/Y008383/1
6 · The paper itself

Abstract

Predictive genetic tests are reflexive in that they have the potential not merely to indicate plausible future health outcomes, but to influence the eventual outcome. This article offers an overview of how genetic tests can be self-fulfilling, self-defeating, or otherwise influence what happens to the person's health. Certain reflexivity is in fact the primary goal of testing, as when those at risk of inherited cancers intend to use this knowledge to decrease said risk. Our analysis emphasises unintended, poorly understood, and often overlooked, reflexive effects of predictive genetic testing, as these may become increasingly important in genetic counselling. First, there is reflexivity in predictive testing for Mendelian, 'monogenic' disorders. Second, other reflexive mechanisms reveal the potential for feedback loops between genetic susceptibility and expectations held by the self or others-which are even greater, and more complex, in the context of polygenic susceptibility tests for psychiatric illness and cognitive and behavioural traits. Finally, there are additional implications if these tests are used in prenatal genetic testing. These reflexive effects are increasingly likely as genomic testing is more broadly applied to complex diseases and encouraged by trends in personalised medicine-and especially with direct-to-consumer, commercial genetic testing remaining largely unregulated. Recognising the scope of reflexive predictive effects is already useful in genetic consultation and will become more important as the scope of genomic testing broadens to more complex diseases and non-disease traits. Understanding the underlying mechanisms will furthermore increase the possibility of consciously choosing a beneficial response or effective treatment. Without attention to these effects, the consequences of tests for susceptibility to more complex traits are likely to remain opaque and therefore difficult to evaluate and regulate.

Indexed as

Genetic CounselingGenetic TestingGenetic Predisposition to DiseaseHumans

Identifiers

PMID40473778
PMCPMC12322037

What OpenQuestion holds

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LicenceCC BY
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Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.