Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder.
Attitudes
Bipolar disorder
Experiences
Genetic testing
Polygenic risk score
Understanding
Journal
Journal of affective disorders
ISSN: 1573-2517
Titre abrégé: J Affect Disord
Pays: Netherlands
ID NLM: 7906073
Informations de publication
Date de publication:
15 03 2020
15 03 2020
Historique:
received:
16
06
2019
revised:
27
11
2019
accepted:
11
01
2020
entrez:
25
2
2020
pubmed:
25
2
2020
medline:
16
2
2021
Statut:
ppublish
Résumé
Polygenic risk scores (PRSs) summarise genetic risk in complex genetic disorders such as bipolar disorder (BD). The aim of this study was to gain in-depth, nuanced information regarding the understanding and experience of receiving a PRS for BD from individuals who already have a BD diagnosis. Participants from a previous genetics study were invited to receive their PRS in a face-to-face consultation with a genetic counsellor or psychiatrist. Four weeks later, semi-structured interviews were conducted, with 14 'acceptors' (those who chose to receive their PRS) and 4 'decliners' (those who did not wish to receive their PRS). Four themes were developed: (1) An easy decision, (2) A positive experience, (3) The grey area, and (4) The future is exciting and frightening. Despite some reported initial shock and distress, all acceptors described the experience of receiving their PRS as a positive one. It allowed them to better understand their condition and/or reduced feelings of self-blame. Decliners chose not to receive their results because of a lack of perceived usefulness or concern that PRS may hinder personal recovery. Given the qualitative design of the study, statistically valid generalisations cannot be undertaken, nor can causal relationships be established. PRS for BD were generally well accepted and understood. Knowledge regarding the impact of PRS for BD ensures that counselling frameworks are responsive to patient needs as well as informing education for psychiatrists and genetic counsellors, who will play pivotal roles in future polygenic testing provision.
Sections du résumé
BACKGROUND
Polygenic risk scores (PRSs) summarise genetic risk in complex genetic disorders such as bipolar disorder (BD). The aim of this study was to gain in-depth, nuanced information regarding the understanding and experience of receiving a PRS for BD from individuals who already have a BD diagnosis.
METHODS
Participants from a previous genetics study were invited to receive their PRS in a face-to-face consultation with a genetic counsellor or psychiatrist. Four weeks later, semi-structured interviews were conducted, with 14 'acceptors' (those who chose to receive their PRS) and 4 'decliners' (those who did not wish to receive their PRS).
RESULTS
Four themes were developed: (1) An easy decision, (2) A positive experience, (3) The grey area, and (4) The future is exciting and frightening. Despite some reported initial shock and distress, all acceptors described the experience of receiving their PRS as a positive one. It allowed them to better understand their condition and/or reduced feelings of self-blame. Decliners chose not to receive their results because of a lack of perceived usefulness or concern that PRS may hinder personal recovery.
LIMITATIONS
Given the qualitative design of the study, statistically valid generalisations cannot be undertaken, nor can causal relationships be established.
CONCLUSIONS
PRS for BD were generally well accepted and understood. Knowledge regarding the impact of PRS for BD ensures that counselling frameworks are responsive to patient needs as well as informing education for psychiatrists and genetic counsellors, who will play pivotal roles in future polygenic testing provision.
Identifiants
pubmed: 32090758
pii: S0165-0327(19)31581-2
doi: 10.1016/j.jad.2020.01.037
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
342-350Informations de copyright
Copyright © 2020 Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest Bettina Meiser has a remunerated consultant role with the company AstraZeneca with respect to an unrelated project. The other authors have no conflicts of interest.