Use of polygenic risk scores (PRS) as a risk-stratification tool in cancer screening is an area of increasing interest. The BARCODE1 study is an observational prostate cancer screening study, investigating the use of PRS to risk-stratify people by risk of prostate cancer, with those identified as higher risk invited for prostate cancer screening. Participants of BARCODE1 were invited to take part in a psychosocial sub-study aiming to explore the effect of receiving a polygenic risk score on psychological health, family risk communication and impact on health behaviours.
1300 participants of the BARCODE1 study were invited to complete questionnaires before and after receiving the results of their PRS. A sub-group were invited to participate in one-to-one in-depth semi-structured interviews, conducted in-person, by telephone or video-call. Interviews were audio recorded and transcribed verbatim. Data were analysed using Reflexive Thematic Analysis and the results are reported here.
Eighteen participants were interviewed and four themes identified; (a) mutual benefit, (b) emotional impact, (c) risk communication and (d) stoical attitudes to health. Participants reported minimal short-term impact on psychosocial health reported following receipt of a PRS. All participants communicated their genetic risk with their spouse/partner; however, some chose not to inform their children. Participants described themselves as having typical 'male' stoical responses to managing their health and that they did not feel the PRS results had an impact on their health behaviours.
Providing an individualised PRS informing future risk of prostate cancer was well received. Overall, participants did not report being psychologically, socially or emotionally affected by receiving this genomic risk information. For those identified as being at higher risk it is important that there is access to healthcare professionals who are competent in discussing the meaning of the results.
ClinicalTrials.gov NCT03857477, registered 26th Feb 2019.
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Matthew Hogben, Emma Hainsworth, Barbara Benton, Jana McHugh, Kathryn Myhill, Eva McGrowder, Reshma Rageevakumar, Denzil James, Sarah Benafif, Elizabeth C Page, Rosalind A Eeles, Emma Rowland, Elizabeth K Bancroft
Oncogenetics Research Team, The Royal Marsden NHS Foundation Trust, London, SW3 6JJ, UK., Oncogenetics Research Team, The Institute of Cancer Research, London, UK., Florence Nightingale Faculty of Nursing, Midwifery & Palliative Care, King's College London, London, UK., Oncogenetics Research Team, The Royal Marsden NHS Foundation Trust, London, SW3 6JJ, UK. .