Provider genetic testing may raise gynecological cancer testing rates
More than 20% of those tested were found to carry disease-causing mutations
Offering genetic testing at the provider’s office at the time of diagnosis effectively increased the number of people with gynecological cancers who underwent testing.
That’s according to a study at a single U.S. center that found that offering point-of-care genetic testing, administered at the doctor’s office or clinic, raised testing rates to 90% among these patients. Of those tested, more than 20% were found to carry disease-causing mutations.
“By implementing universal [point-of-care genetic testing] within this patient population, gynecologic oncology providers can facilitate more timely services and referrals, expand treatment options, and implement risk reduction strategies,” the study’s researchers wrote. The study, “Frequency of Genetic Testing Among Patients With Epithelial Ovarian, Fallopian Tube, and Peritoneal Cancers: A Strategy to Improve Compliance,” was published in the International Journal of Genomics.
Germline genetic mutations, those that occur in the reproductive cells, are believed to affect more than 20% of people with gynecological cancers, including epithelial ovarian cancer, and cancer of the fallopian tubes, which carry eggs from the ovaries to the uterus. Epithelial cancer is the most common ovarian cancer type.
The Society of Gynecologic Oncology (SGO) has recommended genetic testing for patients with gynecological cancers since 2014 due to its impact on prognosis, treatment decisions, and survival, but testing rates still fall short of the goal of universal testing. A previous study found that roughly 30% of women with ovarian cancer underwent genetic testing.
Offering point-of-care testing
Here, researchers at the New York University Grossman School of Medicine assessed the impact of an internal policy change on the rate of genetic testing, following the SGO recommendation. A previous study indicated patients still saw a lag of up to six months from the initial consultation to testing, even after the recommendation.
The policy change introduced point-of-care genetic testing at the time of diagnosis, where the blood sample is collected at the provider’s office. The study included patients diagnosed with primary ovarian cancer, fallopian tube cancer, or peritoneal cancer who were treated between June 2021 and April 2022. Peritoneal cancer originates in the peritoneum, the tissue lining the abdominal cavity, and has similarities with ovarian cancer.
The patients’ cases were reviewed at a weekly interdisciplinary conference, while genetic testing results were evaluated and reviewed with the patient, and then referred to a genetic counselor. According to the researchers, “the hypothesis was that by offering [genetic testing] at the time of diagnosis confirmation and performing the necessary laboratory work during the same visit, the [genetic testing] rate would increase.”
A total of 225 participants were seen in outpatient visits, most of whom had epithelial ovarian cancer (72.4%), followed by fallopian tube cancer (18.7%) and peritoneal cancer (8.9%). The participants had a mean age of 65 and most identified as white (81%). Genetic counseling was documented in 94% of patients, while 90% completed genetic testing after a diagnosis. Twenty-two women didn’t undergo testing, six due to personal preference, while one died before completing testing as a result of her disease. The reasons were unknown for 15 patients.
Genetic mutations were found in 22% of the women who completed testing. The most common were in the BRCA1 and BRCA2 genes, accounting for 82.2% of the mutations. Mutations linked to Lynch syndrome, a hereditary cancer risk condition, were present in 6.8% of cases. Additionally, mutations in the RAD51 and BRIP1 genes, which are linked to an increased risk of certain gynecological cancers, were identified in 8.8% of patients.
“Internal policy change designed to integrate [point-of-care genetic testing] following histologic confirmation of ovarian cancer, [fallopian tube cancer], and [peritoneal cancer] is effective in markedly increasing [genetic testing] uptake in accordance with SGO recommendations,” the researchers wrote.
