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

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

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

Afiliación

Palk AC; Department of Psychiatry, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, 7925, South Africa. andrea.palk@uct.ac.za.
Dalvie S; Department 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.
de Vries J; Department of Medicine, University of Cape Town, Groote Schuur Hospital, Observatory, Cape Town, 7925, South Africa.
Martin AR; Analytic & Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
Stein DJ; Stanley Center for Psychiatric Research & Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.

Philos Ethics Humanit Med ; 14(1): 4, 2019 02 27.

Article en En | MEDLINE | ID: mdl-30813945

RESUMEN

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.

Asunto(s)

Predisposición Genética a la Enfermedad; Trastornos Mentales/genética; Herencia Multifactorial; Revelación de la Verdad/ética; Pruebas Genéticas; Humanos; Psiquiatría; Medición de Riesgo

Palabras clave

Bioethics; Complex risk; Ethics; Polygenic risk score; Psychiatric genetic risk; Risk communication; Risk interpretation

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Revelación de la Verdad / Predisposición Genética a la Enfermedad / Herencia Multifactorial / Trastornos Mentales Tipo de estudio: Diagnostic_studies / Etiology_studies / Guideline / Prognostic_studies / Risk_factors_studies Aspecto: Ethics Límite: Humans Idioma: En Revista: Philos Ethics Humanit Med Asunto de la revista: ETICA Año: 2019 Tipo del documento: Article País de afiliación: Sudáfrica Pais de publicación: Reino Unido

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