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Feasibility of Personalized Ovarian Cancer Risk Prediction with Population-Based Genetic Testing

Conference Correspondent

Unselected population-based genetic testing can provide personalized ovarian cancer risk prediction by combining genetic, epidemiologic, and hormonal data. A study of such an intervention has not previously been performed. Researchers sought to assess the feasibility of ovarian cancer risk stratification of women in the general population using a personalized ovarian cancer risk tool followed by risk management.

Volunteers for the study were recruited through primary care networks in London. Women who had prior ovarian, tubal, or peritoneal cancer were excluded, as were those who had previously undergone genetic testing for ovarian cancer genes. Participants used an online decision aid and had access to a telephone helpline. Consenting participants completed a risk assessment and underwent genetic testing, including BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, and ovarian cancer susceptibility single-nucleotide polymorphisms. Patients were then provided a personalized ovarian cancer risk estimate using genetic, lifestyle, and hormonal ovarian cancer risk factors. Questionnaires were then performed over 6 months, and main outcomes of feasibility, uptake, decision aid use, telephone helpline use, satisfaction, and impact on psychological health were assessed.

A total of 123 volunteers with a mean age of 48.5 years used the decision aid. Of these, 105 (85%) consented to testing. None of the 105 patients fulfilled the National Health Service clinical criteria for genetic testing. Ovarian cancer risk stratification revealed 1 patient at high risk, 0 patients at intermediate risk, and 100 patients at low lifetime ovarian cancer risk. The woman identified as high risk underwent surgical prevention.

Reported decision aid satisfaction was 92.2%. The rate of telephone helpline use was 13%, and the questionnaire response rate at 6 months was 75%. Overall levels of depression, anxiety, quality of life, and distress did not change. Worry regarding ovarian cancer and general cancer risk decreased over 6 months. In total, 85.5% to 98.7% of participants were satisfied with their decision.

Researchers conclude that population-based personalized ovarian cancer risk stratification is feasible and acceptable, and patients were highly satisfied. Cancer worry and risk perception was reduced, and the intervention did not negatively impact psychological health or quality of life. Investigators recommend larger implementation studies to evaluate the long-term impact and cost-effectiveness of this strategy.

Abstract 401. ESGO 2020.

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