Preventing ovarian cancer through genetic testing: a population-based study.

Area of Science:

• Oncology
• Genetics
• Preventive Medicine

Background:

• Personalized medicine approaches, including genetic testing for BRCA1 and BRCA2 mutations and prophylactic salpingo-oophorectomy, are strategies to reduce invasive ovarian cancer incidence.
• Population-level utility of these strategies requires evaluation within specific healthcare systems.

Purpose of the Study:

• To evaluate the potential population-level utility of genetic testing for BRCA1/BRCA2 mutations and subsequent preventive surgery for ovarian cancer in Ontario.
• To determine the proportion of ovarian cancers that might have been prevented by applying existing genetic testing eligibility criteria universally.

Main Methods:

• Review of pedigree information and genetic test results from 1342 unselected ovarian cancer patients in Ontario.
• Identification of patients with BRCA1 or BRCA2 mutations.
• Assessment of eligibility for genetic testing based on provincial criteria prior to cancer diagnosis.

Main Results:

• A total of 176 out of 1342 patients (13.1%) carried a BRCA1 or BRCA2 mutation.
• Of those with mutations, 48 women (3.6% of all patients) met the eligibility criteria for genetic testing before developing cancer.
• This suggests a potential for prevention if testing criteria were applied more broadly.

Conclusions:

• Targeted genetic testing for BRCA1/BRCA2 mutations and preventive interventions hold potential for reducing ovarian cancer burden.
• Universal application of current genetic testing eligibility criteria to all women at risk in Ontario could have prevented a notable proportion of invasive ovarian cancers.
• Further research into optimizing screening and prevention strategies for hereditary ovarian cancer is warranted.