Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder.
J Affect Disord
; 265: 342-350, 2020 03 15.
Article
em En
| MEDLINE
| ID: mdl-32090758
ABSTRACT
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.Palavras-chave
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Transtorno Bipolar
Tipo de estudo:
Etiology_studies
/
Prognostic_studies
/
Qualitative_research
/
Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article