Evidence map›Paper›PMID 30813945›Full record

ReviewPhilosophy, ethics, and humanities in medicine : PEHM2019

Potential use of clinical polygenic risk scores in psychiatry - ethical implications and communicating high polygenic risk.

A C Palk, S Dalvie, J de Vries, A R Martin, D J Stein

Abstract readReview
In one paragraph

Review in Philosophy, ethics, and humanities in medicine : PEHM, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.

0numbers the graph read from it
0cells of the map it votes in
51citing 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

51 citing papers in PubMed.

  1. Big data and psychiatry: advances, constraints and future directions.World psychiatry : official journal of the World Psychiatric Association (WPA) · 2026
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  19. Prediction of Attention-Deficit/Hyperactivity Disorder Diagnosis Using Brief, Low-Cost Clinical Measures: A Competitive Model Evaluation.Clinical psychological science : a journal of the Association for Psychological Science · 2023
    Article
  20. 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

5 authors.

A C PalkDepartment of Psychiatry, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, 7925, South Africa. andrea.palk@uct.ac.za.ORCID 0000-0002-6798-0985
S DalvieDepartment of Psychiatry and SA MRC Unit on Risk and Resilience in Mental Disorders, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, 7925, South Africa.
J de VriesDepartment of Medicine, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, 7925, South Africa.
A R MartinAnalytic & Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
D J SteinDepartment of Psychiatry and SA MRC Unit on Risk and Resilience in Mental Disorders, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, 7925, South Africa.

Funding

Generalizing polygenic risk prediction methods across populations for insights into psychiatric diseaseK99MH117229 · NIMH · MASSACHUSETTS GENERAL HOSPITAL · PI MARTIN, ALICIA · 2018 to 2019
$262k
NIMH NIH HHS K99 MH117229
6 · The paper itself

Abstract

Psychiatric disorders present distinct clinical challenges which are partly attributable to their multifactorial aetiology and the absence of laboratory tests that can be used to confirm diagnosis or predict risk. Psychiatric disorders are highly heritable, but also polygenic, with genetic risk conferred by interactions between thousands of variants of small effect that can be summarized in a polygenic risk score. We discuss four areas in which the use of polygenic risk scores in psychiatric research and clinical contexts could have ethical implications. First, there is concern that clinical use of polygenic risk scores may exacerbate existing health inequities. Second, research findings regarding polygenic risk could be misinterpreted in stigmatising or discriminatory ways. Third, there are concerns associated with testing minors as well as eugenics concerns elicited by prenatal polygenic risk testing. Fourth, potential challenges that could arise with the feedback and interpretation of high polygenic risk for a psychiatric disorder would require consideration. While there would be extensive overlap with the challenges of feeding back genetic findings in general, the potential clinical use of polygenic risk scoring warrants discussion in its own right, given the recency of this possibility. To this end, we discuss how lay interpretations of risk and genetic information could intersect. Consideration of these factors would be necessary for ensuring effective and constructive communication and interpretation of polygenic risk information which, in turn, could have implications for the uptake of any therapeutic recommendations. Recent advances in polygenic risk scoring have major implications for its clinical potential, however, care should be taken to ensure that communication of polygenic risk does not feed into problematic assumptions regarding mental disorders or support reductive interpretations.

Indexed as

Genetic Predisposition to DiseaseMultifactorial InheritanceGenetic TestingHumansMental DisordersPsychiatryRisk AssessmentTruth DisclosureBioethicsComplex riskEthicsPolygenic risk scorePsychiatric genetic riskRisk communicationRisk interpretation

Identifiers

PMID30813945
PMCPMC6391805

What OpenQuestion holds

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Registered trials

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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.