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

2022 ◽  
Author(s):  
Megan A. Czekalski ◽  
Rachelle C. Huziak ◽  
Andrea L. Durst ◽  
Sarah Taylor ◽  
Phuong L. Mai
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Epithelial Ovarian Cancer ◽  
Insurance Coverage ◽  
Panel Testing ◽  
Timely Access ◽  
Poor Treatment ◽  
Testing Practices ◽  
Oncology Providers ◽  
Cancer Network

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.

scholarly journals Preferences of women with epithelial ovarian cancer for aspects of genetic testing

2019 ◽  
Vol 6 (1) ◽  
Author(s):  
Brittany A. Davidson ◽  
Jessie Ehrisman ◽  
Shelby D. Reed ◽  
Jui-Chen Yang ◽  
Adam Buchanan ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Epithelial Ovarian Cancer

Impact of hereditary multigene panel testing for cancer survivors.

2016 ◽  
Vol 34 (3_suppl) ◽  
pp. 261-261
Author(s):  
Nimmi S. Kapoor ◽  
Jennifer Swisher ◽  
Rachel E. McFarland ◽  
Mychael Patrick ◽  
Lisa D. Curcio
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Survivors ◽  
Gene Mutation ◽  
Gene Panel ◽  
Personal History ◽  
Panel Testing ◽  
Pathogenic Mutations ◽  
Gene Panel Testing ◽  
History Of

261 Background: Recently, genetic testing for hereditary cancer syndromes has seen numerous advances in testing spectrum, capability, and efficiency. This may have important implications for cancer survivors and their families. The purpose of this study is to evaluate the impact of reflex genetic testing with newer multi-gene panels on patients with prior negative BRCA1/2 tests. Methods: Data was collected retrospectively from patients who underwent multi-gene panel testing at one of three sites from a single institution between 8/2013-6/2015. Those with a personal history of breast or ovarian cancer and a prior negative BRCA1/2 test were included. Results: Of 914 patients who underwent multi-gene panel tests, 187 met study inclusion criteria. Ten patients (5.3%) were found to carry 11 pathogenic mutations, including 6 patients with mutations in CHEK2, 2 patients with mutations in PTEN, and 1 patient each with mutations in the following genes: BARD1, NF1, and RAD51C. One patient had two pathogenic mutations identified—CHEK2 and BARD1. Of 10 patients with mutations, 9 had a personal history of breast cancer diagnosed at a median age of 43 (range 35-52) and 1 had ovarian cancer diagnosed at age 65. A majority of mutation carriers underwent panel testing years after their cancer diagnosis (median 6 years, range 0.5-32 years) and none with delayed testing had undergone prophylactic contralateral mastectomy prior to the discovery of their gene mutation. All patients with mutations had a family history of at least one cancer, with most having a variety of cancer diagnoses in multiple relatives. Positive panel testing results altered clinical management in most patients, including addition of breast MRI, colonoscopy, or thyroid ultrasound depending on the gene mutation. After discovery of a PTEN mutation 19 years after her initial cancer treatment, one woman underwent bilateral prophylactic mastectomy and was found to have occult ductal carcinoma in situ. Conclusions: Cancer survivorship must incorporate advances in technology that may be beneficial even years after treatment has ended. Multi-gene panel testing can be applied in survivorship settings as a useful tool to guide screening recommendations.

Frequent germline BRCA1/2 mutations in women with ovarian cancer and the need for insurance coverage of genetic testing: A Hellenic Society of Medical Oncology (HeSMO) national program.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. e13525-e13525
Author(s):  
Georgios Lypas ◽  
Zacharenia Saridaki ◽  
Emmanouil S. Saloustros ◽  
Michael Liontos ◽  
Evangelos Bournakis ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Medical Oncology ◽  
Insurance Coverage ◽  
National Program

Cost comparison among different genetic testing strategies in women with epithelial ovarian cancer

2015 ◽  
Vol 137 ◽  
pp. 171
Author(s):  
M. Lopez-Acevedo ◽  
A.H. Buchanan ◽  
A.A. Secord ◽  
P.S. Lee ◽  
C. Fountain ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Epithelial Ovarian Cancer ◽  
Cost Comparison ◽  
Testing Strategies

scholarly journals Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline

2020 ◽  
Vol 38 (11) ◽  
pp. 1222-1245 ◽  
Author(s):  
Panagiotis A. Konstantinopoulos ◽  
Barbara Norquist ◽  
Christina Lacchetti ◽  
Deborah Armstrong ◽  
Rachel N. Grisham ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Epithelial Ovarian Cancer ◽  
Health Care Providers ◽  
Systematic Reviews ◽  
Clinical Decision Making ◽  
Cancer Susceptibility ◽  
Care Providers ◽  
Pathogenic Variants ◽  
Cancer Susceptibility Genes

PURPOSE To provide recommendations on genetic and tumor testing for women diagnosed with epithelial ovarian cancer based on available evidence and expert consensus. METHODS A literature search and prospectively defined study selection criteria sought systematic reviews, meta-analyses, randomized controlled trials (RCTs), and comparative observational studies published from 2007 through 2019. Guideline recommendations were based on the review of the evidence. RESULTS The systematic review identified 19 eligible studies. The evidence consisted of systematic reviews of observational data, consensus guidelines, and RCTs. RECOMMENDATIONS All women diagnosed with epithelial ovarian cancer should have germline genetic testing for BRCA1/2 and other ovarian cancer susceptibility genes. In women who do not carry a germline pathogenic or likely pathogenic BRCA1/2 variant, somatic tumor testing for BRCA1/2 pathogenic or likely pathogenic variants should be performed. Women with identified germline or somatic pathogenic or likely pathogenic variants in BRCA1/2 genes should be offered treatments that are US Food and Drug Administration (FDA) approved in the upfront and the recurrent setting. Women diagnosed with clear cell, endometrioid, or mucinous ovarian cancer should be offered somatic tumor testing for mismatch repair deficiency (dMMR). Women with identified dMMR should be offered FDA-approved treatment based on these results. Genetic evaluations should be conducted in conjunction with health care providers familiar with the diagnosis and management of hereditary cancer. First- or second-degree blood relatives of a patient with ovarian cancer with a known germline pathogenic cancer susceptibility gene variant should be offered individualized genetic risk evaluation, counseling, and genetic testing. Clinical decision making should not be made based on a variant of uncertain significance. Women with epithelial ovarian cancer should have testing at the time of diagnosis.

scholarly journals A Phase II Study of Paclitaxel and Carboplatin with a Biweekly Schedule in Patients with Epithelial Ovarian Cancer: Gynecologic Cancer Network Trial

2014 ◽  
Vol 81 (1) ◽  
pp. 28-34 ◽  
Author(s):  
Koichi Yoneyama ◽  
Hideki Konishi ◽  
Tetsuro Yahata ◽  
Kazuyuki Fujita ◽  
Yoichi Aoki ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Epithelial Ovarian Cancer ◽  
Phase Ii ◽  
Phase Ii Study ◽  
Gynecologic Cancer ◽  
Cancer Network

Germline genetic testing in ovarian cancer patients: Identifying barriers to care and opportunities for improvement.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13142-e13142
Author(s):  
Elizabeth Stock ◽  
Matthew Cowan ◽  
Iris L Romero ◽  
Seiko Diane Yamada
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
African Americans ◽  
Private Insurance ◽  
Insurance Coverage ◽  
Additional Patient ◽  
High Grade ◽  
Provider Education ◽  
Patient Counseling

e13142 Background: Despite recommendations that all patients with non-mucinous high grade epithelial ovarian cancer (EOC) undergo germline genetic testing, only 10-15% of patients nationwide are tested. The aim of this study was to determine the rate of genetic testing at a single academic institution, identify patient characteristics associated with undergoing testing and improve delivery of care by identifying barriers to testing. Methods: An IRB-approved single institution ovarian cancer database was used to identify patients with non-mucinous high grade EOC treated between 1996 and 2017. The rate of genetic testing was calculated and the referral and testing process was mapped. Patient demographics, clinical characteristics and family history was obtained from the medical record. Univariate and multivariate logistic regression was performed. Results: From 1996 to 2017, 588 patients were treated for non-mucinous EOC. Of those, 200 patients (34%) were referred for genetic counseling and 175 (30%) were tested. Younger patients were more likely to undergo testing. Fewer African Americans had genetic testing than Caucasians (18% vs 33%, p = 0.003) and patients with public insurance were less likely to undergo testing compared to those with private insurance (23% vs 34%, p = 0.005). Patients with recurrent disease were less likely to undergo testing but rates did not vary by cancer stage or histology. A family history of cancer was the most significant predictor (43% vs 11%, OR = 5.85, p < 0.001). For patients diagnosed in the past 5 years, the testing rate improved to 57.9%. When the referral and testing process was mapped, a complex internal referral system was revealed. Barriers to testing included provider awareness, additional patient visits, patient preference and insurance coverage. Conclusions: Rates of germline genetic testing for patients with ovarian cancer have increased over time as guidelines for genetic testing have evolved, however, over two thirds of patients were not tested and African Americans were less likely to be tested. These findings support increasing provider education and patient counseling, testing directly in the gyn/oncology office and consideration for instituting a Traceback program.

Genetic assessment of hereditary breast and ovarian cancer in the Harris Health System: A five-year, single-center experience.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. 10587-10587
Author(s):  
Nicole Higashiyama ◽  
Shaun Bulsara ◽  
Susan G. Hilsenbeck ◽  
Tiffaney Tran ◽  
Ria Brown ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Health System ◽  
Ashkenazi Jewish ◽  
Deleterious Mutations ◽  
Panel Testing ◽  
Risk Reducing ◽  
Racial Ethnic ◽  
Hispanic White

10587 Background: Identifying patients with hereditary breast cancer is critical since lifetime breast cancer risk is as high as 85% for those with germline BRCA1/2 mutations and preventive interventions can reduce that risk. However, genetic assessments and counseling are often underutilized among racial/ethnic minority populations. Reducing this genetic testing gap is important since hereditary breast/ovarian cancer syndromes occur among racial/ethnic minorities at least as frequently as non-Ashkenazi Jewish, non-Hispanic White populations. More information on variants in these populations is also needed to better define their genetic susceptibility. Methods: We conducted a retrospective study of adult patients evaluated for genetic testing for hereditary breast/ovarian cancer by a genetic counselor between October 1, 2009 and September 30, 2014 in Harris Health System which is a large, county health system composed mostly of underserved and minority patients. Data from 2015-2019 is currently being extracted and we are reporting the first 5 years of data. Descriptive statistics were used to summarize patient data. Results: 659 patients underwent genetic counseling (10.5% non-Hispanic White, 24.4% Black, 56.9% Hispanic, 5.9% Asian, and 2.3% other). Five patients had Ashkenazi Jewish ancestry. The majority of patients completed testing (87.4%) with 72.7% receiving financial assistance. Among those who did not complete testing, only 12.0% declined, while 66.3% did not meet guideline-based criteria or were recommended to have an affected relative tested. Multigene panel testing was not available until April 2014, so most underwent BRCA sequencing (75.0%) and/or a BRCA large rearrangement test (61.0%). 36.1% received multigene panel testing, 4.6% single site analysis, and 4.4% p53 sequencing. Deleterious mutations occurred in 98 (14.9%) patients: BRCA1 (n = 60), BRCA2 (n = 25), PALB2 (n = 7), ATM (n = 3), and other (n = 3). The distribution of races/ethnicities among those with deleterious mutations was similar to the overall population (7.1% non-Hispanic White, 18.4% Black, 69.4% Hispanic, 3.1% Asian, and 2.0% other). 80.6% of those with deleterious mutations had breast cancer. High rates of bilateral mastectomies were performed in patients with deleterious mutations: BRCA1 60%, BRCA2 55%, PALB2 57.1%, and ATM 33%. Risk-reducing salpingectomy or salpingo-oophorectomy was performed in 56.7% BRCA1, 60% BRCA2, 28.5% PALB2, and 33.3% other mutation carriers. Conclusions: We demonstrate that with the support of financial assistance programs, most patients who receive genetic counseling will accept genetic testing in a socioeconomically underserved, racially/ethnically diverse population. Identification of high-risk patients in these groups is critical since pathogenic variants in this population were common and more than half underwent risk-reducing procedures.

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