Physician Gaps in Genetic Testing Knowledge May Impact Ovarian Cancer Care

Physicians must improve their understanding of the broader implications of genetic testing to optimize the management of patients with advanced ovarian cancer, according to a study published in Future Oncology.¹

The researchers highlighted that over 20% of patients with high-grade serous ovarian cancer have breast cancer gene 1 (BRCA1) and/or BRCA2 mutations (BRCAm).² Also, up to 50% of patients with epithelial ovarian cancer exhibit homologous recombination deficiency (HRD), which impairs homologous recombination repair (HRR), a key pathway for DNA repair and genomic stability.³

Global guidelines recommend BRCAm testing for patients with ovarian cancer and advocate for genetic counseling to support informed biomarker testing decisions.¹ Additionally, HRD testing is increasingly recognized as valuable for guiding poly ADP-ribose polymerase (PARP) inhibitor maintenance treatment after first-line chemotherapy.

However, many eligible patients are not offered these tests, limiting access to biomarker-driven treatment. Therefore, the researchers evaluated physicians’ understanding, perceptions, and experiences of diagnostic genetic testing and the management of patients with advanced ovarian cancer in real-world clinical practice.

Gaps in physicians' understanding and confidence in interpreting genetic testing results may limit optimal biomarker-driven treatment and patient access to genetic counseling. | Image Credit: Giovanni Cancemi - stock.adobe.com

They conducted a cross-sectional, online survey of physicians managing patients with advanced ovarian cancer in 3 waves. Wave 1 surveyed physicians in the US from March to April 2021; Wave 2 included physicians from France, Italy, Germany, Spain, Canada, Japan, and the UK between May to August 2021; and Wave 3 surveyed physicians in Australia between November 2021 and April 2022.

The survey timeline reflected the staggered regional approvals of the PARP inhibitor olaparib as a first-line maintenance therapy for those with newly diagnosed advanced ovarian cancer and a BRCAm. US physicians were recruited through a nationwide physician panel, while those in other countries were selected via local custom recruitment. Participating physicians completed an online screening survey to confirm their eligibility, resulting in 390 physicians completing the survey.

During the 2 years before the survey, the median BRCAm testing rates in patients with advanced ovarian cancer increased across all countries, with the greatest increases observed in Germany and Spain. Testing rates were 80% or greater in the 6 months before the survey in most included countries.

Across all countries, BRCAm tests were primarily conducted before or during first-line chemotherapy, with similar trends observed with HRD and HRR mutation (HRRm) testing. Based on responses from physicians aware of each genetic test, median HRD and HRRm testing rates were higher in the US (60% and 54%, respectively) than in any other country (30% or less across both testing modalities).

The survey used a 7-point Likert scale to measure confidence in genetic testing knowledge, ranging from completely unconfident to completely confident. At least 61% of physicians expressed confidence in interpreting HRD test results, while 4% to 15% reported a lack of confidence. Based on data from all countries, most physicians (34%-57%) considered treatment implications based on the status of biomarkers as the most important reason for conducting germline and tumor BRCAm, HRD, and HRRm testing.

Additionally, many physicians (24%-34%) indicated clinical guideline recommendations as the most important reason for using germline and tumor BRCAm testing, and some (15%-18%) identified this as most important for HRD and HRRm testing. However, a large number of physicians (19%-23%) considered the most important reason to conduct HRD and HRRm testing to be the consensus of their identities as predictive markers of treatment response in ovarian cancer.

Lastly, using a 7-point Likert scale, ranging from completely disagree to completely agree, most physicians (at least 73%) agreed that genetic counseling should be proposed to all patients with ovarian cancer. The physicians viewed genetic counseling as essential for informing patients about health and cancer risks, with 58% to 92% reporting that their center offered it.

The researchers acknowledged their survey’s limitations, one being that the findings cannot be extrapolated to non-participating countries. Also, the data reflect physicians’ perceptions and estimates. Despite these limitations, the researchers suggested that expanding genetic testing and counseling could enhance treatment opportunities.

“By improving both the clinical utilization of genetic testing and access to genetic counseling, more patients with advanced ovarian cancer may have the opportunity to receive optimal treatment decisions,” the authors concluded.

References

1. Banerjee S, Eskander RN, Bailey T, et al. Physician knowledge, use, and perceptions of genetic biomarker testing for the management of patients with newly diagnosed advanced ovarian cancer: an international physician survey. Future Oncol. doi:10.1080/14796694.2025.2449782
2. Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature. 2011;474(7353):609-615. doi:10.1038/nature10166
3. Konstantinopoulos PA, Ceccaldi R, Shapiro GI, et al. Homologous recombination deficiency: exploiting the fundamental vulnerability of ovarian cancer. Cancer Discov. 2015;5(11):1137–1154. doi:10.1158/2159-8290.CD-15-0714