Women whose genetic makeup includes certain gene variants have an increased risk of developing breast and ovarian cancer. However, genetic testing is not considered standard of care at the time of diagnosis of breast cancer. Typically, only women who meet a distinct set of criteria established by the National Comprehensive Cancer Network (NCCN) are referred for genetic testing. As a result, many women diagnosed with breast cancer may miss the opportunity for individualized therapies and risk management.
Researchers evaluated demographic and clinical factors associated with rates of eligibility and referrals for genetic testing, completion of appointments by the patients, and the outcomes of the assessment if completed among women previously diagnosed with breast cancer. Investigators obtained the medical records of 150 women who received care at the Karmanos Cancer Institute from January 2018 to December 2018. The average age of the women at the time of diagnosis was 57.1 years.
Eligibility for genetic testing was determined by NCCN guidelines. Among the 150 women whose medical records were evaluated, 60.7% were eligible for genetic testing and 46.2% of these patients completed the assessment. In general, eligible women tended to be younger (52.6 years old), white (75%), have Medicaid or private insurance (75% and 72.9%, respectively), and diagnosed with stage I-III disease (67.8%). Referrals for genetic testing were 3.5 times more common among women who met NCCN benchmarks.
Of the patients who had a genetic counseling appointment (59.3%), 78.0% kept the appointment. Results from the study indicate women diagnosed with stage IV breast cancer and those with Medicaid or private insurance were more likely to present for the appointment than those with stage I-III disease or Medicare. There does not appear to be any differences in appointment completion associated with race. The majority (95.9%) of women who attended their appointment also completed genetic counseling. Among these women, 8.5% had a gene variant associated with breast cancer.
The researchers conclude that lack of genetic counseling referrals contribute to a gap between the need for and completion of genetic testing. Fewer referrals exclude certain populations of women with breast cancer from genetic testing. Improving access to genetic counseling may increase identification of specific genetic variants that can be targeted for more personalized treatment plans among these patients.
Source: Wehbe A, Manning MA, Assad H, et al. Uptake of genetic counseling and testing in a clinic-based population of women with breast cancer. American Society of Clinical Oncology Virtual Meeting; June 4-8, 2021. Abstract 10524.