Phuong L. Mai

Mainstreaming Genetic Testing for Epithelial Ovarian Cancer by Oncology Providers: A Survey of Current Practice

PURPOSE With limitations in early detection and poor treatment response, ovarian cancer is associated with significant morbidity and mortality. Up to 25% of epithelial ovarian cancer (EOC) is related to a hereditary predisposition. Current National Comprehensive Cancer Network guidelines recommend that all individuals diagnosed with EOC be offered germline genetic testing. Although this would ideally be performed by genetics professionals, a shortage of genetic counselors can affect timely access to these services. This study sought to investigate the current genetic testing practices of oncology providers to determine the feasibility of oncologist-led genetic testing for patients with EOC. METHODS A survey was distributed to members of the Society of Gynecologic Oncologists with questions regarding timing, frequency, and type of cancer genetic testing, referrals to genetics professionals, confidence with aspects of genetic testing, and any barriers to these processes. RESULTS We received 170 evaluable responses. Eighty-five percent of providers always ordered genetic testing for patients with EOC. Most providers ordered germline multigene panel testing (95.8%), generally at diagnosis (64.5%). Provider confidence with the genetic testing process was generally high and significantly differed by providers' testing practices, namely, respondents who reported always ordering genetic testing tended to be more confident in ordering testing ( P = .008), interpreting results ( P = .005), and counseling a patient ( P = .002). Patient disinterest and concerns for insurance coverage were commonly cited as barriers to testing and referrals. CONCLUSION The findings from this study suggest that oncologist-led genetic testing for patients with EOC, with referrals to genetics professionals when appropriate, has the potential to be a viable alternative service delivery model to increase access to genetic testing for patients diagnosed with EOC.

Gynecologic Manifestations of Hereditary Syndromes: Clinical and Imaging Spectrum

The role of imaging in the diagnosis of gynecologic manifestations of hereditary syndromes is important and allows evaluation of key imaging features and associated conditions.

Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results

Since panel genetic testing has become widely available, national guidelines recommend that individuals who previously underwent BRCA1/2-only testing should undergo updated testing to include other hereditary breast and ovarian cancer predisposition genes. Our study assessed the yield of additional hereditary cancer predisposition testing in patients who previously underwent negative BRCA1/2 testing. Additionally, our study included a small pilot to evaluate whole exome sequencing in patients with a strong family history. Patients enrolled in a registry study who previously underwent negative BRCA1/2 testing were included and stratified into three categories based on personal and family cancer history-strongly suggestive, moderately suggestive, and possibly suggestive. Updated testing with a 36-gene pan-cancer panel was performed on most participants. A selected set of participants had whole exome sequencing. Patients with a pathogenic variant identified were offered clinical confirmatory testing. Rates of positive test results were compared among the three groups. Clinically relevant pathogenic variants in non-BRCA1/2 genes from the 36-gene panel test were identified in 8.1% of participants, most commonly in PALB2 (1.9%), ATM (1.2%), and MSH6 (1.2%). Positive findings were more common in patients with strongly suggestive history, but the differences were not statistically significant. Exome testing in individuals with a strongly suggestive personal and family history did not yield novel findings. Our findings aligned with previous studies and support the use of expanded gene panel testing in all patients meeting testing criteria who previously underwent negative BRCA1/2 testing. Our small pilot whole exome sequencing did not identify any novel finding.