Sophie Putt1, Tatiane Yanes2, Bettina Meiser2, Rajneesh Kaur2, Janice M Fullerton3, Kristine Barlow-Stewart4, Peter R Schofield3, Claudio Toma3, Holly Peay5, Philip B Mitchell6. 1. University of New South Wales Medicine, Sydney, NSW 2052, Australia. Electronic address: s.putt@student.unsw.edu.au. 2. Prince of Wales Clinical School, University of New South Wales, Sydney, NSW 2052, Australia. 3. Neuroscience Research Australia, Randwick, Sydney, NSW 2031, Australia; School of Medical Sciences, University of New South Wales, Sydney, NSW 2052, Australia. 4. Northern Clinical School, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2000, Australia. 5. National Human Genome Research Institute, Bethesda, United States. 6. School of Psychiatry, University of New South Wales, Sydney, NSW 2052, Australia; Black Dog Institute, Prince of Wales Hospital, Sydney, NSW 2052, Australia.
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.
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.