Putt Sophie, Yanes Tatiane, Meiser Bettina, Kaur Rajneesh, Fullerton Janice M, Barlow-Stewart Kristine, Schofield Peter R, Toma Claudio, Peay Holly, Mitchell Philip B
University of New South Wales Medicine, Sydney, NSW 2052, Australia.
Prince of Wales Clinical School, University of New South Wales, Sydney, NSW 2052, Australia.
J Affect Disord. 2020 Mar 15;265:342-350. doi: 10.1016/j.jad.2020.01.037. Epub 2020 Jan 13.
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.
多基因风险评分（PRS）总结了双相情感障碍（BD）等复杂遗传疾病中的遗传风险。本研究的目的是从已被诊断患有双相情感障碍的个体那里获取有关接受双相情感障碍PRS的理解和体验的深入、细致入微的信息。
邀请先前一项遗传学研究的参与者在与遗传咨询师或精神科医生的面对面咨询中接受他们的PRS。四周后，对14名“接受者”（选择接受其PRS的人）和4名“拒绝者”（不希望接受其PRS的人）进行了半结构化访谈。
形成了四个主题：（1）轻松的决定，（2）积极的体验，（3）灰色地带，以及（4）未来既令人兴奋又令人恐惧。尽管一些人报告最初有震惊和痛苦，但所有接受者都将接受PRS的经历描述为积极的。这使他们能够更好地了解自己的病情和/或减轻自责感。拒绝者选择不接受他们的结果，是因为认为没有用处，或者担心PRS可能会阻碍个人康复。
鉴于该研究的定性设计，无法进行具有统计学有效性的概括，也无法建立因果关系。
双相情感障碍的PRS总体上被很好地接受和理解。关于双相情感障碍PRS影响的知识确保咨询框架能够响应患者需求，并为精神科医生和遗传咨询师的教育提供信息，他们将在未来的多基因检测提供中发挥关键作用。
