Exploration of experiences with and understanding of polygenic risk scores for bipolar disorder

JOURNAL OF AFFECTIVE DISORDERS

卷:265

Article

Putt, Sophie¹  Yanes, Tatiane²  Meiser, Bettina²  Kaur, Rajneesh²  Fullerton, Janice M.^3,4  Barlow-Stewart, Kristine⁵  Schofield, Peter R.^3,4  Toma, Claudio^3,4  Peay, Holly⁶  Mitchell, Philip B.^7,8 

[1] Univ New South Wales Med, Sydney, NSW 2052, Australia

[2] Univ New South Wales, Prince Wales Clin Sch, Sydney, NSW 2052, Australia

[3] Neurosci Res Australia, Sydney, NSW 2031, Australia

[4] Univ New South Wales, Sch Med Sci, Sydney, NSW 2052, Australia

[5] Univ Sydney, Fac Med & Hlth, Northern Clin Sch, Sydney, NSW 2000, Australia

[6] NHGRI, Bethesda, MD 20892 USA

[7] Univ New South Wales, Sch Psychiat, Sydney, NSW 2052, Australia

[8] Prince Wales Hosp, Black Dog Inst, Sydney, NSW 2052, Australia

关键词: Bipolar disorder;    Polygenic risk score;    Genetic testing;    Attitudes;    Experiences;    Understanding;   

DOI  :  10.1016/j.jad.2020.01.037

来源: Elsevier

【 摘 要 】

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.

【 授权许可】

Free