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Frequency of Genetic Testing Among Patients With Epithelial Ovarian, Fallopian Tube, and Peritoneal Cancers: A Strategy to Improve Compliance
Nawlo, Jude; Espino, Kevin; Gerber, Deanna; Akerman, Meredith; Chan, Kent; Jimenez, Edward; Chalas, Eva
PMCID:11991803
PMID: 40226356
ISSN: 2314-4378
CID: 5827302
The impact of the ban on elective surgery in New York City during the coronavirus outbreak on gynecologic oncology patient care
Lee, Sarah S; Ceasar, Danial; Margolis, Benjamin; Venkatesh, Pooja; Espino, Kevin; Gerber, Deanna; Boyd, Leslie R
Introduction/UNASSIGNED:Elective surgical procedures were suspended during the coronavirus disease pandemic (COVID-19) in New York City (NYC) between March 16 and June 15, 2020. This study characterizes the impact of the ban on surgical delays for patients scheduled for surgery during this first wave of the COVID-19 outbreak. Methods/UNASSIGNED:Patients who were scheduled for surgical treatment of malignant or pre-invasive disease by gynecologic oncologists at three NYC hospitals during NYC's ban on elective surgery were included. Outcomes of interest were the percentage of patients experiencing surgical delay and the nature of delays. Kruskal-Wallis, chi-square, and logistic regression tests were performed with significance set at p < 0.05. Results/UNASSIGNED:Of the 145 patients with malignant or pre-invasive diseases scheduled for surgery during the ban on elective surgery, 40% of patients experienced one or more surgical delays, 10% experienced two or more and 1% experienced three surgical delays. Of patients experiencing an initial delay, 77% were hospital-initiated and 11% were due to known or suspected personal COVID-19. Overall, 81% of patients completed their planned treatment, and 93% of patients underwent their initially planned surgery. Among patients for whom adjuvant therapy was recommended, 67% completed their planned treatment, and the most common reasons for not completing treatment were medically indicated followed by concerns regarding COVID-19. Conclusion/UNASSIGNED:During the ban on elective surgery in NYC during the first outbreak of the COVID-19 pandemic, many patients experienced minor surgical delays, but most patients obtained appropriate, timely care with either surgery or alternative treatment.
PMCID:9085382
PMID: 35573131
ISSN: 2352-5789
CID: 5284172
Uptake and timing of risk-reducing salpingo-oophorectomy among patients with BRCA1/2 mutations
Smith, Maria J; Gerber, Deanna; Olsen, Anne; Khouri, Olivia R; Wang, Yuyan; Liu, Mengling; Smith, Julia; Pothuri, Bhavana
BACKGROUND:In women with BRCA mutations, risk-reducing bilateral salpingo-oophorectomy (RRSO) has been shown to decrease gynecologic cancer-specific and overall mortality. The National Comprehensive Cancer Network (NCCN) recommends that patients with BRCA mutations undergo RRSO between the ages of 35-40 years for BRCA1 mutation carriers and between the ages of 40-45 years for BRCA2 mutation carriers, or after childbearing is complete. Currently, uptake and timing of RRSO and reasons for delays in RRSO are not well understood. OBJECTIVE:We sought to evaluate uptake and timing of RRSO among women with BRCA1/2 mutations in relation to NCCN guidelines, and reasons for delays in RRSO. STUDY DESIGN/METHODS:In this retrospective chart review, we identified women with BRCA1/2 mutations who discussed RRSO with a provider between 2012 and 2021. Uptake of RRSO was documented, and patients were classified as having timely or delay in RRSO based on NCCN guidelines. For those with delay in RRSO, reasons cited for delay were collected. Comparative statistical analyses were performed to evaluate characteristics of those with timely vs delayed RRSO. A multivariable logistic regression model was used to evaluate the associations between factors related to timing of RRSO. RESULTS:We identified 638 BRCA1/2 mutation carriers seen between 2012 and 2021. Of these patients, 306 (48.0%) had undergone RRSO and 332 (52.0%) had not. When evaluating timing of RRSO, 136 (21.3%) underwent timely RRSO, 239 (37.5%) had delay in RRSO, and 263 (41.2%) had not undergone RRSO but were younger than NCCN age guidelines so were neither timely nor delayed. Patients with delay in RRSO were significantly older at the time of genetic testing compared to those with timely RRSO (mean 49.8 vs 36.3 years; p < 0.001). Of the 306 patients who underwent RRSO, those with delayed RRSO had a significantly shorter interval between BRCA identification and RRSO compared to those with timely RRSO (median 8.7 vs 17.6 months; p < 0.001). Patients with delay in RRSO were more likely to have a personal history of cancer than those with timely RRSO (49.8% vs 37.5%; p=0.028). Of the 239 women with delay in RRSO, reasons included: 188 (78.7%) for delayed BRCA mutation identification; 29 (12.1%) for menopausal concerns; 17 (7.1%) for ongoing cancer treatment; 12 (5.0%) for coordination with breast surgery; 20 (8.4%) for miscellaneous reasons; and 19 (7.9%) with no reasons documented. In the multivariate model, older age at BRCA diagnosis (OR 0.73; 95%CI [0.68-0.78]; p<0.001) was significantly associated with delayed RRSO timing; those with BRCA2 mutation type were 7.54 times as likely to have timely RRSO compared to BRCA1 mutation carriers (OR 7.54; 95%CI [3.70-16.42]; p<0.001). CONCLUSION/CONCLUSIONS:Nearly 38% of BRCA1/2 mutation carriers undergo or have yet to undergo RRSO beyond the NCCN recommended age. The most common reason for delay in RRSO was delayed identification of BRCA mutation, noted in 79% of patients with delayed RRSO. Timely genetic testing for eligible patients can increase appropriately timed RRSO for prevention of ovarian cancer and reduction of mortality in BRCA mutation carriers.
PMID: 34171390
ISSN: 1097-6868
CID: 4925842
Breast cancer incidence in BRCA mutation carriers with ovarian cancer: A longitudal observational study
Safra, Tamar; Waissengrin, Barliz; Gerber, Deanna; Bernstein-Molho, Rinat; Klorin, Geula; Salman, Lina; Josephy, Dana; Chen-Shtoyerman, Rakefet; Bruchim, Ilan; Frey, Melissa K; Pothuri, Bhavana; Muggia, Franco
OBJECTIVES/OBJECTIVE:We evaluated the incidence of breast cancer and overall survival in a multi-center cohort of ovarian cancer patients carrying BRCA1/2 mutations in order to assess risks and formulate optimal preventive interventions and/or surveillance. METHODS:Medical records of 502 BRCA1/2 mutation carriers diagnosed with ovarian cancer between 2000 and 2018 at 7 medical centers in Israel and one in New York were retrospectively analyzed for breast cancer diagnosis. Data included demographics, type of BRCA mutations, surveillance methods, timing of breast cancer diagnosis, and family history of cancer. RESULTS:The median age at diagnosis of ovarian cancer was 55.8 years (range, 23.9-90.1). A third (31.5%) had a family history of breast cancer and 17.1% of ovarian cancer. Most patients (67.3%) were Ashkenazi Jews, 72.9% were BRCA1 carriers. Breast cancer preceded ovarian cancer in 17.5% and was diagnosed after ovarian cancer in 6.2%; an additional 2.2% had a synchronous presentation. Median time to breast cancer diagnosis after ovarian cancer was 46.0 months (range, 11-168). Of those diagnosed with both breast cancer and ovarian cancer (n = 31), 83.9% and 16.1% harbored BRCA1 and BRCA2 mutations, respectively. No deaths from breast cancer were recorded. Overall survival did not differ statistically between patients with an ovarian cancer diagnosis only and those diagnosed with breast cancer after ovarian cancer. CONCLUSION/CONCLUSIONS:The low incidence of breast cancer after ovarian cancer in women carrying BRCA1/2 mutations suggests that routine breast surveillance, rather than risk-reducing surgical interventions, may be sufficient in ovarian cancer survivors.
PMID: 34172288
ISSN: 1095-6859
CID: 4925902
The show must go on: impact of the ban on elective surgery in New York City during the coronavirus outbreak on gynecologic oncology patient care [Meeting Abstract]
Margolis, B; Lee, S; Ceasar, D; Venkatesh, P; Espino, K; Gerber, D; Boyd, L
Objectives: To characterize the effect that a ban on elective surgery had for patients who were scheduled for surgery with a gynecologic oncologist during the first coronavirus disease 19 (COVID-19) outbreak in New York City.
Method(s): Patients who were scheduled to undergo surgery by a gynecologic oncologist at one of three campuses of a New York City based academic hospital during the ban on elective surgery between March 16, 2020 and June 15, 2020 were included. Patients with benign disease were excluded. Data on patient demographics, perioperative characteristics, nature of surgical delay, and post-operative treatment were abstracted from patient charts. Standard of care was considered met if surgical procedures occurred for suspected malignant and pre-invasive disease, or if an appropriate treatment plan and follow up was documented for malignant cases. Kruskal-Wallis and chi-square test of independence were performed with significance set at p<0.05.
Result(s): A total of 196 patients were scheduled to undergo a surgical procedure during the ban on elective surgery, of which 146 were for malignant, suspected malignant or pre-invasive disease. The majority of cases (42.4%) occurred in patients with known malignancy, followed by suspected malignancy (37.7%) and pre-invasive disease (19.9%). Forty percent of patients experienced one or more surgical delay, 9.6% experienced 2 or more surgical delays and 1.4% experienced three or more surgical delays. Of patients who experienced surgical delays, 75.9% experienced hospital-initiated delays and 24.1% experienced patient-initiated delays. There were no differences between hospital versus patient initiated delays by White vs non-White race (p=0.167). Eight percent of delays were due to a patient with known or suspected COVID-19. The median time from surgical consultation to proposed date of surgery was 20 days for both known malignancy and suspected malignancy, and 34.5 days for pre-invasive disease (p=0.005). Similarly, the median time from surgical consultation to actual date surgery was 23 days for patients with known or suspected malignancy compared to 64 days for preinvasive disease (p=0.011). Of eight patients undergoing treatment for ovarian cancer, 50% underwent primary debulking and 50% underwent neoadjuvant chemotherapy. Among all scheduled cases, the standard of care was met in 89.7% of cases. Standard of care treatment was achieved with a documented alternative plan in 6.1% of cases and with a non-surgical plan in 3% of cases. [Formula presented]
Conclusion(s): During the ban on elective surgery in New York City during the first outbreak of the COVID-19 pandemic, many patients experienced minor surgical delays, but the majority of patients with known or suspected malignancies obtained appropriate, timely care. Ten percent of patients did not receive standard of care.
Copyright
EMBASE:2014118098
ISSN: 0090-8258
CID: 4985862
Why do patients decline cascade testing in families with an identified mutation associated with hereditary gynecologic cancers? [Meeting Abstract]
Baumann, K E; Brodsky, A L; Bhuptani, B; Lutz, K; Gerber, D; Keith, N D; Ginsburg, O; Smith, J; Levine, D A; Pothuri, B
Objective: We sought to prospectively evaluate the feasibility of obtaining genetic testing for at least 1 first- or second-degree family member of a proband known to have actionable germline mutation associated with endometrial and/or ovarian cancer through a coordinated referral system. We also identified barriers to genetic assessment in family members. Here we report initial probands screened and their reasons for declining cascade testing.
Method(s): Patients with a diagnosed pathogenic or suspected pathogenic mutation associated with ovarian and/or endometrial cancer were identified from the gynecologic oncology and genetics clinics. If patients did not consent to the study, their reasons for declining participation were documented. Patients who provided consent were asked to contact their first- and/or second-degree relatives to disclose their genetic testing results and advise them to contact our center for a referral to a genetic counselor. The number of relatives per proband who contacted us for a genetic counseling referral was recorded. In addition to providing the referral, we followed up with relatives to determine whether they attended their genetic counseling appointment, received genetic testing, or took any cancer risk-reducing measures based on their results.
Result(s): This study opened in March 2019. To date, we have screened 71 patients and enrolled 26 (37%). Among the 45 patients who were screened but not enrolled, 48.9% (n = 22) reported that their reason for declining participation in the study was that their family members had already received genetic testing. Other common reasons for declining participation were family members refusing testing (17.8%, n = 8) or no eligible family members (17.8%, n = 8) (Table 1).
Conclusion(s): The majority of probands declined participation in this facilitated cascade testing protocol. The most common reason for lack of participation was family members already having genetic testing or not having eligible family members. Patients who declined participation because family members refused testing could benefit from counseling on how to best to communicate with their relatives. Genetic testing for both patients and their relatives is critical to provision of appropriate cancer screening and prevention services. Knowledge of these barriers is important to further improve cascade testing among family members.
Copyright
EMBASE:2008347296
ISSN: 0090-8258
CID: 4638392
Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: uptake of genetic counseling and testing and impact on patient-reported stress, anxiety and depression
Frey, Melissa K; Lee, Sarah S; Gerber, Deanna; Schwartz, Zachary P; Martineau, Jessica; Lutz, Kathleen; Reese, Erin; Dalton, Emily; Olsen, Annie; Girdler, Julia; Pothuri, Bhavana; Boyd, Leslie; Curtin, John P; Levine, Douglas A; Blank, Stephanie V
BACKGROUND:Timely genetic testing at ovarian cancer diagnosis is essential as results impact front line treatment decisions. Our objective was to determine rates of genetic counseling and testing with an expedited genetics referral pathway wherein women with newly-diagnosed ovarian cancer are contacted by a genetics navigator to facilitate genetic counseling. METHODS:Patients were referred for genetic counseling by their gynecologic oncologist, contacted by a genetics navigator and offered appointments for genetic counseling. Patients completed quality of life (QoL) surveys immediately pre- and post-genetic assessment and 6 months later. The primary outcome was feasibility of this pathway defined by presentation for genetic counseling. RESULTS:From 2015 to 2018, 100 patients were enrolled. Seventy-eight had genetic counseling and 73 testing. Median time from diagnosis to genetic counseling was 34 days (range 10-189). Among patients who underwent testing, 12 (16%) had pathogenic germline mutations (BRCA1-7, BRCA2-4, MSH2-1). Sixty-five patients completed QoL assessments demonstrating stress and anxiety at time of testing, however, scores improved at 6 months. Despite the pathway leveling financial and logistical barriers, patients receiving care at a public hospital were less likely to present for genetic counseling compared to private hospital patients (56% versus 84%, P = 0.021). CONCLUSIONS:Facilitated referral to genetic counselors at time of ovarian cancer diagnosis is effective, resulting in high uptake of genetic counseling and testing, and does not demonstrate a long term psychologic toll. Concern about causing additional emotional distress should not deter clinicians from early genetics referral as genetic testing can yield important prognostic and therapeutic information.
PMID: 32057464
ISSN: 1095-6859
CID: 4304652
Referral to a Gynecologic Oncologist is Associated with Uptake of Risk Reducing Surgery for Non-BRCA Mutation Carriers at Increased Risk of Ovarian Cancer [Meeting Abstract]
Lee, S. S.; Baumann, K. E.; Bhuptani, B.; Turecamo, S.; Gerber, D.; Smith, J.; Pothuri, B.
ISI:000542994200037
ISSN: 0090-8258
CID: 4525912
Referral patterns and uptake of risk reducing surgery for non-BRCA genes associated with increased risk of epithelial ovarian cancer [Meeting Abstract]
Lee, S; Bhuptani, B; Turecamo, S; Gerber, D; Smith, J; Pothuri, B
Objectives To identify referral patterns and uptake of risk reducing surgery (RRS) in patients with non-BRCA genes associated with an increased risk of epithelial ovarian cancer. Methods A chart review of patients with mutations in MLH1, MSH2, EPCAM, MSH6, PMS2, RAD51C/D, BRIP1 was conducted from 2015-2018. Patients with BRCA1/2 and variants of uncertain significance were excluded; MSH6 and PMS2 were included (though recent change to insufficient evidence). Primary outcomes of interest were referral to a gynecologic oncologist and the uptake of RRS. Results Of 78 patients, 18 had undergone surgical management for treatment of cancer prior to genetic testing and were excluded. The majority of the patients (41 of 60, 68%) with non-BRCA actionable mutations were associated with Lynch Syndrome (LS). Of these patients, 23 of 60 (56%) were seen by gynecologic oncologists. Twenty of 41 (49%) underwent RRS. Excluding the MSH6 and PMS2 patients, 9 of 21 (43%) of patients with LS underwent RRS. Among patients with the non-BRCA and non-LS associated genes (RAD51C, RAD51D, BRIP1) the most common reason for testing was family history of cancer (10 of 19). Fifteen of 19 were referred to a gynecologic oncologist; all patients with BRIP1 mutation were referred, while 70% of those with RAD51/D were referred. Among this subset of patients, 9/19 (47%) patients underwent RRS; the remaining patients were screened with surveillance ultrasounds and/or CA-125. Conclusions Two-thirds of patients with non-BRCA genes associated with increased risk of ovarian cancer were referred to gynecologic oncologists, with a 48% of uptake or RRS
EMBASE:629423172
ISSN: 1525-1438
CID: 4119632
Medical marijuana for palliation of symptoms in women with gynecologic cancers [Meeting Abstract]
Brodsky, A L; Gerber, D; Lutz, K; Reese, E; Pothuri, B; Kim, A
Objective: The use of medical marijuana (MM) in cancer patients was legalized in New York state in 2016. Reported benefits of MM include reduction of cancer-associated pain, nausea, vomiting, fatigue, and improved appetite, as well as mitigating other side effects of cancer treatment. Tetrahydrocannabinol (THC) and cannabidiol (CBD), both components of MM, have been shown to have therapeutic benefit for cancer-related symptoms. Dosing of MM is described in terms of the THC:CBD ratio. While the general therapeutic benefits have been documented, there is a paucity of data on MM use in patients with gynecologic cancers (GC). We sought to evaluate the effect of medical marijuana for symptom management in patients with GC at our institution.
Method(s): We retrospectively identified women with GC using MM between May 2016 and August 2018 from the medical record. Demographic data, cancer diagnosis, dosage form, quantity, frequency, length of treatment, indication, and reported efficacy of MM were collected.
Result(s): We identified 34 patients using MM for a diagnosis of GC. Table 1 lists the patient characteristics and indications for MM and dosing. Median age of patients using MM was 60 years (46-78 years). Median length of treatment with MM was 189 days (11-761 days). Response to MM included 17(50%) improvement in symptoms; 3 (9%) minimal change; 10 (29%) not reported yet; and 4 (12%) unknown. Overall, among patients for whom symptom improvement was available to date, 17/20 (85%) noted improvement. Four (12%) patients reported unwanted side effects, which were euphoria, dizziness, fatigue, and paranoia. Three patients who reported side effects received MM with a 1:1 THC:CBD ratio; the other patient received a low THC:high CBD dosing. Only one (3%) patient ceased medical marijuana use because of untoward adverse effects. All the patients who reported an improvement in symptoms while using MM were concurrently receiving chemotherapy. Improvement in symptoms was not related to formulation, form, or length of treatment of MM.
Conclusion(s): An improvement in symptoms associated with cancer and treatment was noted in over 80% of GC patients using MM, and very few reported adverse side effects. MM is likely to be a promising treatment for pain, nausea, and anorexia in GC patients and should be considered in the armamentarium of palliative cancer treatment options. [Figure presented]
Copyright
EMBASE:2002077870
ISSN: 1095-6859
CID: 4005052