Use of the Utah population database to evaluate statewide use of genetic testing for hereditary breast/ovarian cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e22529-e22529
Author(s):  
Wendy Kohlmann ◽  
Nykole Sutherland ◽  
Lisa M. Pappas ◽  
Debra Ma ◽  
Therese Berry ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Salt Lake ◽  
Healthcare Systems ◽  
Population Based ◽  
Population Database ◽  
Family History Information ◽  
Hereditary Breast Ovarian Cancer ◽  
Testing Data

e22529 Background: Genetic testing for hereditary breast/ovarian cancer (HBOC) continues to be underutilized, and options for population-based assessment of testing barriers and outcomes are lacking. This project uses linkages between statewide data sources available through the Utah Population Database (UPDB) to establish an infrastructure for studying the use of HBOC cancer genetic testing across a state. Methods: Clinical HBOC testing data from 1994-2018 was obtained for the University of Utah Huntsman Cancer Institute, Intermountain Healthcare, Utah Cancer Specialists, and the Salt Lake Veterans administration via electronic imports of tests attributed to these healthcare systems from three commercial laboratories. Genetic testing was linked to external data through the UPDB to determine demographic and urban/rural designation. Cancer diagnoses were obtained from the Utah Cancer Registry, and genealogies from the Utah Resource for Genetic and Epidemiology Research. These variables were matched to data available for the individual at the date of testing. For individuals with multiple genetic tests, the date for the first test was used. Results: Testing data was available for 12983 individuals who linked to additional records within the UPDB. Tested individuals were 86% White, 9% Hispanic, and 16% lived in rural/frontier areas. 75% of tests were performed between 2011-2018. 1575 (12%) had >1 pathogenic variant (PVs) identified in an HBOC gene, with the majority of PVs being in BRCA1/2 (89%), and TP53, CHEK2, and ATM each accounting for 2% of PVs. 7178 cancers were diagnosed in 5980 individuals (46%, avg. 1.2 cancer/person). Cancer cases were evaluated to determine if National Comprehensive Cancer Network (HBOC 2018) criteria were met. Cancer cases who have a relative with BC < 50 years of age or a relative with ovarian cancer (OC) were more likely to have a have BRCA1/2 PV than cases not meeting those criteria (17.5% vs 6.1% and 22.3% vs. 6.3% respectively). Cancer cases meeting criteria due to family history of pancreatic cancer also had a higher rate of PVs (13.1% vs. 8.4%) predominately due to additional PVs in BRCA2. Conclusions: This project begins to address the challenge of population assessment of HBOC genetic testing. We established a regulatory infrastructure to share testing data between multiple healthcare systems. In collaboration with commercial laboratories, genetic testing data was obtained in a consistent, discrete format even though it is stored differently within each health care system. The majority (54%) of HBOC testing in Utah is happening in people who did not have cancer at the time of their test, and focusing on assessing testing of cancer patients will not provide comprehensive information on testing done in the state. Among individuals with cancer, access to family history information is crucial for assessing the rate of PVs and utility of testing criteria.

scholarly journals Oncology Clinic-Based Hereditary Cancer Genetic Testing in a Population-Based Health Care System

Cancers ◽  
2020 ◽  
Vol 12 (2) ◽  
pp. 338 ◽  
Author(s):  
Matthew Richardson ◽  
Hae Jung Min ◽  
Quan Hong ◽  
Katie Compton ◽  
Sze Wing Mung ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Health Care ◽  
Genetic Testing ◽  
Population Based ◽  
Gene Panel ◽  
Wait Times ◽  
Genetic Counsellor ◽  
Care Providers ◽  
Cancer Genetic ◽  
Breast And Ovarian Cancer

New streamlined models for genetic counseling and genetic testing have recently been developed in response to increasing demand for cancer genetic services. To improve access and decrease wait times, we implemented an oncology clinic-based genetic testing model for breast and ovarian cancer patients in a publicly funded population-based health care setting in British Columbia, Canada. This observational study evaluated the oncology clinic-based model as compared to a traditional one-on-one approach with a genetic counsellor using a multi-gene panel testing approach. The primary objectives were to evaluate wait times and patient reported outcome measures between the oncology clinic-based and traditional genetic counselling models. Secondary objectives were to describe oncologist and genetic counsellor acceptability and experience. Wait times from referral to return of genetic testing results were assessed for 400 patients with breast and/or ovarian cancer undergoing genetic testing for hereditary breast and ovarian cancer from June 2015 to August 2017. Patient wait times from referral to return of results were significantly shorter with the oncology clinic-based model as compared to the traditional model (403 vs. 191 days; p < 0.001). A subset of 148 patients (traditional n = 99; oncology clinic-based n = 49) completed study surveys to assess uncertainty, distress, and patient experience. Responses were similar between both models. Healthcare providers survey responses indicated they believed the oncology clinic-based model was acceptable and a positive experience. Oncology clinic-based genetic testing using a multi-gene panel approach and post-test counselling with a genetic counsellor significantly reduced wait times and is acceptable for patients and health care providers.

Moving Toward Personalized Medicine: Treatment-Focused Genetic Testing of Women Newly Diagnosed With Ovarian Cancer

2010 ◽  
Vol 20 (5) ◽  
pp. 704-716 ◽  
Author(s):  
Alison H. Trainer ◽  
Bettina Meiser ◽  
Kaaren Watts ◽  
Gillian Mitchell ◽  
Kathy Tucker ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Mutation Frequency ◽  
Brca Mutation ◽  
Brca2 Mutation ◽  
Age At Onset ◽  
Prognostic Significance ◽  
Brca1 And Brca2 ◽  
Germline Brca Mutation

Objectives:The presence of a germline BRCA mutation defines a genotype-specific group of women whose invasive ovarian cancer is associated with an increasingly well-defined prognostic and chemosensitivity biological profile. To determine the criteria that may be used to select patients for BRCA treatment-focused genetic testing, we performed a systemic literature search of studies that assessed BRCA1 and BRCA2 mutation frequency in women with ovarian cancer unselected for family history. The results are discussed with regard to the added clinical value gained by identifying a germline BRCA mutation at the time of the ovarian cancer diagnosis.Methods:BRCA-related studies were identified in the CD-ROM databases PubMed (including MEDLINE), PsychINFO, and CINAHL and included in the review if they met the following criteria: they (a) assessed mutation frequency in women with ovarian cancer who were unselected for family history and ethnicity, (b) were published in a peer-review journal, (c) between January 1997 and October 2009, and (d) in the English language.Results:Studies investigating the prevalence of BRCA1 or BRCA2 mutations in ovarian cancer patients unselected for family history or ethnicity have found a pathological BRCA mutation rate of approximately 3% to 17%. Without a significant family history, specific features that may be used to target treatment-focused BRCA testing in the ovarian cancer setting include young age at onset (<50 years), high-grade serous tumor histology, and specific ethnicity associated with known BRCA founder mutations.Conclusions:We believe that given the growing appreciation of the prognostic significance of BRCA mutations and the differential chemosensitivity shown by these tumors, as well as the potential of novel agents such as poly(ADP-ribose) polymerase inhibitors, the identification of a germline BRCA mutation concurrent with a new diagnosis of ovarian cancer will significantly impact on tailoring personalized ovarian management in the future.

Genetic testing in young women with breast cancer: Results from a web-based survey

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 21093-21093
Author(s):  
J. A. Shin ◽  
S. Gelber ◽  
J. Garber ◽  
R. Rosenberg ◽  
M. Przypyszny ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
High Risk ◽  
Young Women ◽  
College Education ◽  
Web Based ◽  
Increased Risk ◽  
History Of

21093 Background: Young women with breast cancer have an increased risk of harboring a BRCA1/2 mutation. The frequency of genetic testing in this population is not well described. We evaluated the reported frequency and factors associated with genetic testing among young breast cancer survivors identified through the Young Survival Coalition (YSC), an international advocacy group for young women with breast cancer. Methods: Items regarding family history and genetic testing were included in a large web-based survey addressing quality of life and fertility issues for young women with breast cancer. All YSC members were invited by email in March 2003 (N= 1,703 women) to participate in this cross-sectional survey. Results: 657 women completed the on-line survey; 622 were eligible for this analysis (age <40, no metastatic or recurrent disease). Mean age at breast cancer diagnosis was 33 years; mean age when surveyed 35.5 years. Stages included: 0 (10%), I (27%), II (49%), III (12%), missing (3%). 90% of women were white; 64% married; 49% with children; 78% had at least a college education; 42% of women reported a 1st or 2nd degree relative with breast or ovarian cancer, and 13% considered themselves high-risk for harboring a genetic mutation at the time of diagnosis. At the time of the survey, 23% of women had undergone genetic testing, and 26% of those tested reported that a mutation was found. In a multivariate model, women who were younger (age 36–40 vs. age =30, O.R. 2.26, p=0.004), more educated (< college vs. > college education, O.R. 2.62, p=0.0009), had a family history of breast or ovarian cancer (O.R. 3.15, p<0.0001), and had had a mastectomy (O.R. 1.99, p=0.001) were more likely to have undergone genetic testing. Non-significant covariates included: age at survey, stage, time since diagnosis, race, marital status, employment, finances, insurance, number of children, comorbidities, baseline anxiety and depression, and fear of recurrence. Conclusion: The majority of women diagnosed with breast cancer age 40 and younger do not undergo genetic testing. Younger, more educated women with a family history of breast or ovarian cancer are more likely to get tested. Further research to define the appropriateness of genetic testing in this relatively high-risk population is warranted. No significant financial relationships to disclose.

scholarly journals Acceptance of genetic testing for hereditary breast ovarian cancer among study enrollees from an African American kindred

2006 ◽  
Vol 140A (8) ◽  
pp. 813-826 ◽  
Author(s):  
Anita Yeomans Kinney ◽  
Sara Ellis Simonsen ◽  
Bonnie Jeanne Baty ◽  
Diptasri Mandal ◽  
Susan L. Neuhausen ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
African American ◽  
Genetic Testing ◽  
Hereditary Breast Ovarian Cancer

A multi-institution study of the accuracy of BRCAPRO in predicting BRCA1/BRCA2 mutations in women with ovarian cancer.

2012 ◽  
Vol 30 (15_suppl) ◽  
pp. 1520-1520
Author(s):  
Molly S Daniels ◽  
Sheri Babb ◽  
Robin King ◽  
Diana Urbauer ◽  
Christopher I. Amos ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Cancer Patients ◽  
Goodness Of Fit ◽  
Brca2 Mutation ◽  
Model Performance ◽  
High Grade ◽  
Serous Ovarian Cancer ◽  
Goodness Of Fit Test

1520 Background: 10-15% of ovarian cancer patients have a germline BRCA1 or BRCA2 mutation, with significant management implications for both patients and relatives. Genetic testing decisions are guided in part by the estimated likelihood of identifying a mutation. The BRCAPRO model uses personal and family history of breast and ovarian cancer to calculate the likelihood of a BRCA1/2 mutation. This study’s purpose was to assess the ability of BRCAPRO to accurately determine this likelihood. Methods: BRCAPRO scores were calculated using CancerGene v5.1 for 589 ovarian cancer patients referred for genetic counseling at three institutions. The study population was divided into quintiles by BRCAPRO score, with cutpoints chosen such that each quintile represented 20% of the sample. Chi-square goodness-of-fit test was used to compare observed BRCA1/2 mutations to the number predicted. ANOVA models were used to assess factors impacting BRCAPRO accuracy. Results: 180/589 (31%) ovarian cancer patients tested positive for a BRCA1/2 mutation. At BRCAPRO scores under 40%, more mutations were observed than expected (93 observed vs. 34.1 expected, p<0.001). If patients with BRCAPRO scores <10% had not been offered genetic testing, almost one-third of mutations (51/180, 28%) would have been missed. Multivariate analysis demonstrated that BRCAPRO underestimated risk for high grade serous ovarian cancers but overestimated risk for other histologies (p<0.0001), underestimation increased as age at diagnosis decreased (p=0.02), and model performance varied by institution (p=0.02). Conclusions: Ovarian cancer patients classified as low risk by BRCAPRO are more likely to test positive than predicted, therefore the BRCAPRO prediction could falsely reassure patients considering genetic testing. BRCAPRO performance could be improved by incorporating factors such as ovarian cancer histology. Alternatively, given the high prevalence of BRCA1/2 mutations in high grade serous ovarian cancer and the apparent limitations of using family history to predict mutation probability, BRCA1/2 genetic testing could be offered to high grade serous ovarian cancer patients regardless of family history.

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.

EMR documentation of genetics evaluations in patients with ovarian cancer.

2019 ◽  
Vol 37 (15_suppl) ◽  
pp. e13156-e13156
Author(s):  
Payal Deepak Shah ◽  
Heather Symecko ◽  
Melissa Batson ◽  
Stacy Pundock ◽  
Neil Rustgi ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Family History ◽  
Cancer Genetics ◽  
Retrospective Chart Review ◽  
University Of Pennsylvania ◽  
Study Cohort ◽  
Problem List ◽  
Clinical Diagnoses ◽  
History Of

e13156 Background: Genetic testing for hereditary cancer predisposition has become increasingly complex yet impactful. Provider knowledge of test results influences risk management, implications for family members, and therapeutics. Currently, it’s unknown if genetic test (GT) results are appropriately recorded and accessible within the electronic medical record (EMR). Methods: We conducted a single-institution retrospective chart review to examine clinical diagnoses, family history of cancer, genetics referrals, and genetics services received at University of Pennsylvania’s Cancer Risk Evaluation Program (CREP) or elsewhere. The study cohort included new and prevalent cases of ovarian cancer (OC) seen by either a gynecologic or medical oncologist at the University of Pennsylvania in 2016. Analyses were conducted using SAS 9.4. Results: 667 women (83% white, 9% black, 4% Asian; mean age 61) with OC were included. 58% had a documented family history of breast, ovarian, prostate or pancreas cancer. 48% had documentation of referral to genetic testing and an additional 26% had documentation of testing outside of CREP. 26% had no documentation of referral or testing. Of those referred to CREP, 75% had genetic testing: in total 62% of the cohort had documented testing. 94% of those tested had a result documented in a provider note, and 64% had a scanned testing report uploaded into the EMR, including 74.3% of those tested through CREP and 25.7% of those tested outside. Among the 118 pathogenic mutations, 70% were documented on the EMR “problem list.” Conclusions: In this study, most, though not all, OC patients had documentation of a GT referral or testing in the EMR. Although GT results were routinely included in progress notes, these reports were less commonly scanned into the EMR (particularly for those tested outside Penn) or included in the EMR “problem list” which is both searchable and immediately visible. Capturing genetic data in a uniform and easily accessible manner within the EMR is necessary to maximize clinical utility of this information and should be a focus for EMR module development.

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