Population Study of Ovarian Cancer Risk Prediction for Targeted Screening and Prevention
Creators: name: Gaba, Faiza
name: Blyuss, Oleg
name: Liu, Xinting
name: Goyal, Shivam
name: Lahoti, Nishant
name: Chandrasekaran, Dhivya
name: Kurzer, Margarida
name: Kalsi, Jatinderpal
name: Sanderson, Saskia
name: Lanceley, Anne
name: Ahmed, Munaza
name: Side, Lucy
name: Gentry-Maharaj, Aleksandra
name: Wallis, Yvonne
name: Wallace, Andrew
name: Waller, Jo
name: Luccarini, Craig
name: Yang, Xin
name: Dennis, Joe
name: Dunning, Alison
name: Lee, Andrew
name: Antoniou, Antonis C.
name: Legood, Rosa
name: Menon, Usha
name: Jacobs, Ian
name: Manchanda, Ranjit
Publisher: name: Apollo - University of Cambridge Repository
Year: 2020
Subjects: population genetic testing
ovarian cancer risk
risk stratification
BRCA1
BRCA2
RAD51C
RAD51D
BRIP1
SNP
risk modelling

description: Unselected population-based personalised ovarian cancer (OC) risk assessment combining genetic/epidemiology/hormonal data has not previously been undertaken. We aimed to perform a feasibility study of OC risk stratification of general population women using a personalised OC risk tool followed by risk management. Volunteers were recruited through London primary care networks. Inclusion criteria: women ≥18 years. Exclusion criteria: prior ovarian/tubal/peritoneal cancer, previous genetic testing for OC genes. Participants accessed an online/web-based decision aid along with optional telephone helpline use. Consenting individuals completed risk assessment and underwent genetic testing (BRCA1/BRCA2/RAD51C/RAD51D/BRIP1, OC susceptibility single-nucleotide polymorphisms). A validated OC risk prediction algorithm provided a personalised OC risk estimate using genetic/lifestyle/hormonal OC risk factors. Population genetic testing (PGT)/OC risk stratification uptake/acceptability, satisfaction, decision aid/telephone helpline use, psychological health and quality of life were assessed using validated/customised questionnaires over six months. Linear-mixed models/contrast tests analysed impact on study outcomes. Main outcomes: feasibility/acceptability, uptake, decision aid/telephone helpline use, satisfaction/regret, and impact on psychological health/quality of life. In total, 123 volunteers (mean age = 48.5 (SD = 15.4) years) used the decision aid, 105 (85%) consented. None fulfilled NHS genetic testing clinical criteria. OC risk stratification revealed 1/103 at ≥10% (high), 0/103 at ≥5%−10% (intermediate), and 100/103 at 5% (low) lifetime OC risk. Decision aid satisfaction was 92.2%. The telephone helpline use rate was 13% and the questionnaire response rate at six months was 75%. Contrast tests indicated that overall depression (p = 0.30), anxiety (p = 0.10), quality-of-life (p = 0.99), and distress (p = 0.25) levels did not jointly change, while OC worry (p = 0.021) and general cancer risk perception (p = 0.015) decreased over six months. In total, 85.5−98.7% were satisfied with their decision. Findings suggest population-based personalised OC risk stratification is feasible and acceptable, has high satisfaction, reduces cancer worry/risk perception, and does not negatively impact psychological health/quality of life.