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Unselected Population Genetic Testing for Personalised Ovarian Cancer Risk Prediction: A Qualitative Study Using

Faiza Gaba1,2, Samuel Oxley1,2, Xinting Liu1

  • 1Wolfson Institute of Population Health, Barts CRUK Centre, Queen Mary University of London, Old Anatomy Building, Charterhouse Square, London EC1M 6BQ, UK.

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|May 28, 2022
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Summary
This summary is machine-generated.

Population genetic testing for ovarian cancer (OC) risk prediction in women is acceptable and satisfying. Receiving low-risk results reduced anxiety, highlighting the need for clear communication about residual risk.

Keywords:
health and well-beingovarian cancerpopulation testingrisk stratification

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Area of Science:

  • Oncology
  • Genetics
  • Public Health

Background:

  • Personalised ovarian cancer (OC) risk assessments combining genetic, epidemiological, and hormonal data are novel.
  • Previous studies have not evaluated unselected population-based genetic testing for OC risk.

Purpose of the Study:

  • To explore attitudes, experiences, and emotional well-being of women receiving low-risk (<5% lifetime risk) results from population genetic testing (PGT) for OC risk.
  • To identify facilitators and barriers to PGT in a general population setting.

Main Methods:

  • A qualitative study involving in-depth, semi-structured interviews with nine women from the general population who received low-risk OC PGT results.
  • Participants were recruited from primary care in London for a pilot PGT study utilizing an OC risk tool and telephone helpline.

Main Results:

  • High satisfaction with PGT and no expressed regret among participants.
  • Low-risk results reduced anxiety, with the telephone helpline being perceived as helpful and optional.
  • Key facilitators included ease of testing, understanding children's risk, and disease prevention desire; barriers involved family dynamics, insurance, and stigmatization.

Conclusions:

  • PGT for personalised OC risk prediction is highly acceptable and satisfying in the general population, reducing anxiety in low-risk individuals.
  • Facilitators and barriers mirror those found in high-risk cancer clinics and other unselected PGT studies.
  • Clear communication emphasizing that low risk does not mean no risk is crucial.