Results from MAGENTA: A national randomized four-arm noninferiority trial evaluating pre- and post-test genetic counseling during online testing for breast and ovarian cancer genetic risk.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1506-1506 ◽  
Author(s):  
Elizabeth M. Swisher ◽  
Nadine Rayes ◽  
Deborah Bowen ◽  
Christine B Peterson ◽  
Tara Coffin ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Genetic Education ◽  
Breast And Ovarian Cancer ◽  
Post Test ◽  
Anxiety Depression ◽  
Decisional Regret ◽  
Test Completion

1506 Background: Hereditary breast and ovarian cancer (HBOC) is preventable when genetic risk is identified. We aimed to test whether pre and/or post-test genetic counseling is needed to optimally deliver online accessible genetic testing. Methods: MAGENTA (Making GENetic Testing Accessible) is a four-arm non-inferiority trial evaluating electronic genetic education and results delivery alone or combined with pre-test only, or post-test only telephone genetic counseling compared to mandatory pre- and post-test counseling (control arm) in women at risk of HBOC (NCT02993068). Regardless of assigned arm, all subjects with a pathogenic mutation received post-test telephone counseling. All subjects were enrolled electronically as part of either a family history cohort (FHC) or a cascade cohort (CC, known familial mutation). The primary outcome was cancer risk distress at 3 months and the trial was powered for the FHC. Secondary outcomes included completion of testing (i.e., received results), anxiety, depression, quality of life, and decisional regret, all measured by standardized scales. Results: Enrollment is complete and a total of 3,822 participants were randomized, 3,111 in FHC and 711 in CC. Participants were enrolled from all 50 states, but most were white/non-Hispanic (88%). Among participants that completed genetic testing, 173 (7.2%) had a mutation in a breast or ovarian cancer gene, with 114 (5.7%) of FHC and 59 (14.2%) of CC. In the primary intention-to-treat analysis of FHC, each of the three experimental arms was non-inferior to the control arm for distress at 3 months (p < 0.025/3 = 0.0083). In the CC, no and pre-test only counseling were also non-inferior (p < 0.025/3 = 0.0083). Distress was lowest in the arm with neither pre nor post-test counseling. Overall, 318 (18%) participants had very high distress at three month follow-up, and this rate was not significantly different across arms. Anxiety, depression and decisional regret did not have statistically significant differences across arms at follow-up. Test completion was highest in the no counseling arm (86.4%) and lowest in the control arm (60.6%). Conclusions: Electronic genetic education and results release without genetic counseling was non-inferior with regard to patient distress and was associated with higher test completion and lower distress. These results support use of a genetic testing paradigm providing individualized genetic counseling only for patients with positive test results. Clinical trial information: NCT02993068.

The impact of live education on the competence and performance of oncology practitioners who care for patients with ovarian cancer.

2021 ◽  
Vol 39 (15_suppl) ◽  
pp. e23010-e23010
Author(s):  
Vanessa Carranza ◽  
Bryan Carson Taylor ◽  
Susan H. Gitzinger ◽  
Joan B. Fowler ◽  
Jessica Hall
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Parp Inhibitor ◽  
Inhibitor Therapy ◽  
Community Based ◽  
Educational Initiatives ◽  
Post Test ◽  
Chi Square Analysis

e23010 Background: About a third of ovarian cancer patients in the US have limited access to a gynecologic oncologist (GO) due to geographic disparities. A survey by The Society of Gynecologic Oncology (SGO) found that the majority of GOs found it was vital to coordinate local access to care, from diagnosis to survivorship, for patients living in areas of disparity. This allows rural/underserved patients broader access to novel therapies, as they increasingly become standard of care. It is critical for not only GOs to be current on the latest ovarian cancer data, but all clinicians who care for these patients. Methods: CEC Oncology developed two educational initiatives focused on PARP inhibitor therapy in ovarian cancer, which was targeted to all US healthcare professionals caring for ovarian cancer patients. Evaluations were collected from attendees attending an SGO Symposium and Ground Round (GR) series to assess impact on practice, increased competency, and intent to make a change in practice. Learning, knowledge, and competence was objectively assessed by analyzing pre-test, post-test, and follow-up survey data (sent 4-6 weeks post-activity). Chi-square analysis was conducted with a priori significance set at 0.05. Results: A total of 830 clinicians were educated, with SGO attendees primarily practicing in academic settings and GR attendees mostly from community practices. SGO attendees were asked case questions at baseline, immediately after the activity, and 4-6 weeks after the activity. Knowledge increased from pre- to post-test regarding current genetic testing recommendations (23% increase; P= .004) and appropriate selection of PARP inhibitor therapy (25% increase; P= .017). Knowledge was sustained at follow-up analysis. At follow-up, 90% of SGO and 84% of GR attendees made a change as a result of attending the activities. More attendees were able to incorporate germline multigene testing into practice, than originally intended; increase of 29% for SGO and 7% for GR audiences. All attendees experienced the barrier lack of patient education about the importance of genetic testing/counseling more than anticipated; increase of 7% for SGO and 13% for GR audiences. At follow-up, there was a 9% increase in GR attendees listing staying current with trial data and practice guidelines as a barrier. Conclusions: There were some notable differences seen in competence/performance among attendees of the two ovarian cancer educational initiatives. Differences may be attributed to practice setting (SGO primarily academic; GR primarily community.) Overall, GR attendees were more likely to face barriers, suggesting that community-based clinicians have fewer resources and experience more barriers to implementing best practices. Thus, it is vital to offer education for clinicians in community-based practices, particularly in areas that are considered ‘geographically disparate’.

Population genetic screening for hereditary breast and ovarian cancer in at-risk patients: A novel testing and prevention model for community hospitals reveals high mutation rates rurally.

2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1575-1575
Author(s):  
Charles Hendrix Shelton ◽  
Leigh Boehmer ◽  
Christine B. Weldon ◽  
William C. Guenther ◽  
Julia Rachel Trosman ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
High Risk ◽  
Genetic Screening ◽  
Systematic Approach ◽  
Germline Mutations ◽  
Breast And Ovarian Cancer ◽  
Risk Patients

1575 Background: Genetic testing for at risk non-cancer patients continues to increase (Guo F, et al Cancer 2020). We identified a high risk of familial breast and ovarian cancer in rural eastern North Carolina, and created a systematic approach for genetic screening, counseling and testing. Methods: A family history questionnaire was designed to assess for the risk for hereditary breast and ovarian cancer (HBOC) using NCCN guidelines, and used at key intake points within the unaffected population to determine eligibility for genetic testing. First it was offered at the time of all mammograms. Second, we offered it in the primary gynecology care setting to capture younger patients not participating in screening mammography. Patients meeting HBOC criteria were sent a letter and two phone calls to schedule genetic counseling. Analysis via descriptive statistics. Results: 3000 rural women screened using our systematic approach to genetic risk assessment. 22.4% (673/3000) of female patients met NCCN criteria for HBOC panel testing. All offered consultation and counseling. With a backlog to see patients due to higher than expected accrual, 217 patients have completed pre-test genetic counseling, 201 completed local 19-gene panel test, and 201 had post-test counseling. Germline mutations (=>1) that predict for genetic susceptibility to cancer(s) occur in 7.8% of our screened and tested population. Currently 1 in 400 patients screened in our unaffected population carry a BRCA mutation, and 1 in 200 carry some pathogenic mutation that increases risk for HBOC. Conclusions: This rural model of screening and prevention of at risk patients for HBOC is successful at detecting pathogenic mutations in unaffected patients before they are diagnosed with cancer. Interestingly, the rate of positivity in the unaffected population (meeting criteria) is as high as the known breast cancer population rate of germline mutations (5-10%), validating the use of testing guidelines with our model. Discovering this susceptibility before a cancer diagnosis resulted in appropriate high risk management with prevention and risk reduction strategies. We plan to expand this model to the male screening population in 2021, and streamline genetic assessment and testing for the larger population at risk by engaging more rural primary care clinics over time to increase testing compliance. We also plan to consider broader gene panels as newer mutations become linked to HBOC. Clinical trial information: UMCIRB 19-001052.

How does genetic testing influence anxiety, depression, and quality of life? A hereditary breast and ovarian cancer syndrome suspects trial

2020 ◽  
Author(s):  
Francisca Fernanda Barbosa Oliveira ◽  
Paulo Goberlânio de Barros Silva ◽  
Rosane Oliveira de Sant’Ana ◽  
Clarissa Gondim Picanço de Albuquerque ◽  
Maria Júlia Barbosa Bezerra ◽  
...  
Keyword(s):  
Quality Of Life ◽  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Syndrome ◽  
Breast And Ovarian Cancer ◽  
Anxiety Depression

scholarly journals A Comparison of Patient-Reported Outcomes Following Consent for Genetic Testing Using an Oncologist-or Genetic Counselor-Mediated Model of Care

2021 ◽  
Vol 28 (2) ◽  
pp. 1459-1471
Author(s):  
Jeanna M McCuaig ◽  
Emily Thain ◽  
Janet Malcolmson ◽  
Sareh Keshavarzi ◽  
Susan Randall Armel ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Testing ◽  
Cancer Patients ◽  
Genetic Counselor ◽  
Clear Understanding ◽  
Breast And Ovarian Cancer ◽  
Panel Testing ◽  
Gene Panel Testing ◽  
Patient Reported ◽  
Post Test

This study compares knowledge, experience and understanding of genetic testing, and psychological outcomes among breast and ovarian cancer patients undergoing multi-gene panel testing via genetic counselor-mediated (GMT) or oncologist-mediated (OMT) testing models. A pragmatic, prospective survey of breast and ovarian cancer patients pursuing genetic testing between January 2017 and August 2019 was conducted at the Princess Margaret Cancer Centre in Toronto, Canada. A total of 120 (80 GMT; 40 OMT) individuals completed a survey administered one week following consent to genetic testing. Compared to OMT, the GMT cohort had higher median knowledge (8 vs. 9; p = 0.025) and experience/understanding scores (8.5 vs. 10; p < 0.001) at the time of genetic testing. Significant differences were noted in the potential psychological concerns experienced, with individuals in the GMT cohort more likely to screen positive in the hereditary predisposition domain of the Psychosocial Aspects of Hereditary Cancer tool (55% vs. 27.5%; p = 0.005), and individuals in the OMT cohort more likely to screen positive in the general emotions domain (65.0% vs. 38.8%; p = 0.007). The results of this study suggest that OMT can be implemented to streamline genetic testing; however, post-test genetic counseling should remain available to all individuals undergoing genetic testing, to ensure any psychologic concerns are addressed and that individuals have a clear understanding of relevant implications and limitations of their test results.

The impact of Angelina Jolie's (AJ) story on genetic referral and testing at an academic cancer centre.

2014 ◽  
Vol 32 (26_suppl) ◽  
pp. 44-44 ◽  
Author(s):  
Jacques Raphael ◽  
Sunil Verma ◽  
Paul Hewitt ◽  
Andrea Eisen
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Breast And Ovarian Cancer ◽  
Before And After ◽  
History Of ◽  
The Media ◽  
The Impact

44 Background: In May 2013, AJ revealed to the media that she had undergone preventive double mastectomy. The actress had a family history of breast and ovarian cancer and tested positive for the BRCA1 gene mutation. Media coverage has been extensive, but it’s not clear what messages the public and professional medical staff took from this personal story that sometimes could be misleading. Methods: We conducted a retrospective review in our centre using data from the clinical database of the Familial Cancer Program in a tertiary care cancer centre. The impact of AJ’s story on genetic counseling referrals was assessed by comparing the number of referrals made 6 months before and after the story. In addition, the quality of referrals was reported by comparing the number of patients who qualified for genetic testing as defined by the Ontario Ministry of Health and Long Term Care and the ones who carried a BRCA1/2 mutation before and after the media release. Results: The number of women referred for genetic counseling increased by 85% after the release of AJ’s story (479 before versus 887 after). This translated to an increase of 99% in the number of women who qualified for a genetic testing (211 before versus 419 after). Among them, 120 and 254 women had a history of breast and ovarian cancer in their family, 16 and 37 women had a history of male breast cancer in their family, and 28 and 15 women were diagnosed with breast cancer at the age of 35 or less before and after AJ’s story respectively. Furthermore, the number of BRCA1/2 carriers identified increased by 107% (29 (14 BRCA1, 15 BRCA2) before and 60 (32 BRCA1, 28 BRCA2) after). Conclusions: This study clearly shows that the number of genetic referrals doubled after AJ’s story. Nevertheless, the quality of referral remained the same with nearly the same percentage of patients who qualified for genetic testing and who were identified as BRCA1/2 carriers. The challenge is to meet the increased demand for cancer genetic services including screening, counseling, testing, and preventive surgery. After AJ’s story the current model of genetic counseling may need to be revisited.

What you don't know can hurt you: adverse psychologic effects in members of BRCA1-linked and BRCA2-linked families who decline genetic testing.

1998 ◽  
Vol 16 (5) ◽  
pp. 1650-1654 ◽  
Author(s):  
C Lerman ◽  
C Hughes ◽  
S J Lemon ◽  
D Main ◽  
C Snyder ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Depressive Symptoms ◽  
Genetic Testing ◽  
Family Members ◽  
Outcome Variable ◽  
Breast And Ovarian Cancer ◽  
Stress Symptoms ◽  
Related Stress

PURPOSE To identify members of hereditary breast and ovarian cancer families who are at risk for adverse psychologic effects of genetic testing. PATIENTS AND METHODS A prospective cohort study with baseline (preeducation) assessments of predictor variables (ie, sociodemographic factors, cancer history, and cancer-related stress symptoms) was performed. The primary outcome variable (presence of depressive symptoms) was assessed at baseline and at 1- and 6-month follow-up evaluations. Participants were 327 adult male and female members of BRCA1- and BRCA2-linked hereditary breast and ovarian cancer families, who were identified as carriers, noncarriers, or decliners of genetic testing. RESULTS The presence of cancer-related stress symptoms at baseline was strongly predictive of the onset of depressive symptoms in family members who were invited but declined testing. Among persons who reported high baseline levels of stress, depression rates in decliners increased from 26% at baseline to 47% at 1-month follow-up; depression rates in noncarriers decreased and in carriers showed no change (odds ratio [OR] for decliners v noncarriers=8.0; 95% confidence interval [CI], 1.9 to 33.5; P=.0004). These significant differences in depression rates were still evident at the 6-month follow-up evaluation (P=.04). CONCLUSION In BRCA1/2-linked families, persons with high levels of cancer-related stress who decline genetic testing may be at risk for depression. These family members may benefit from education and counseling, even if they ultimately elect not to be tested, and should be monitored for potential adverse effects.

scholarly journals Breadth of Genetic Testing Selected by Patients at Risk of Hereditary Breast and Ovarian Cancer

2018 ◽  
Vol 28 (1) ◽  
pp. 26-33 ◽  
Author(s):  
J. Brian Szender ◽  
Jasmine Kaur ◽  
Katherine Clayback ◽  
Mollie L. Hutton ◽  
June Mikkelson ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
At Risk ◽  
Genetic Counseling ◽  
Genetic Testing ◽  
Confidence Interval ◽  
Categorical Variables ◽  
Breast And Ovarian Cancer ◽  
Clinical Genetic ◽  
Patients At Risk ◽  
The Impact

ObjectiveThe aim of this study was to evaluate the ability of patients at risk of hereditary breast and ovarian cancer (HBOC) syndrome to select the extent of genetic testing personally preferred and the impact of demographic factors on the breadth of testing pursued.MethodsA single-institution cohort was enumerated consisting of patients referred for clinical genetic counseling secondary to risk of HBOC syndrome. This was a retrospective study of consecutive patients seen for genetic counseling; all patients completed an epidemiologic questionnaire and provided personal and family medical histories. Patients meeting guidelines for testing were offered testing at 3 levels: single gene/condition (Single), small panels with highly penetrant genes (Plus), and large panels with high and moderately penetrant genes (Next). Associations between personal or family-related factors and breadth of testing selected were investigated. Continuous and categorical variables were compared using Student t and χ2 tests, as appropriate. Joint classification tables were used to test for effect modification, and a log-binomial model was used to compute rate ratios (RR) with a threshold of P < 0.05 considered significant.ResultsWe identified 253 patients who underwent genetic counseling for HBOC syndrome. Most patients were personally affected by cancer (63.6%), reported at least some college (79.2%), met the National Comprehensive Cancer Network guidelines for BRCA testing (94.5%), and opted to undergo genetic testing (94.1%). Most (84.9%) patients opted for panel testing. An increased likelihood of choosing Next-level testing was found to be associated with patients having any college experience (RR, 1.53; 95% confidence interval, 1.02–2.30), as well as being unaffected by cancer (RR, 1.30; 95% confidence interval, 1.03–1.64).ConclusionsClinical genetic counseling is a highly specialized service, which should be provided to patients at risk of hereditary cancer syndromes. Although some epidemiologic factors can predict a patient's preference for testing breadth, patients were sufficiently able to self-identify the level of testing they were comfortable with after receiving genetic counseling. Most practitioners do not have the time or expertise to provide the degree of counseling needed to enable and empower patients to choose the level of testing they are comfortable with. When available, referral to genetic counselors remains an important component of comprehensive care for women with a personal or family history of cancer suggestive of hereditary risk.

Evaluation of a Genetic Counseling Aid for Hereditary Breast and Ovarian Cancer

2015 ◽  
Vol 2 (2) ◽  
pp. 103-109
Author(s):  
Deborah Cragun ◽  
Lucia Camperlengo ◽  
Emily Robinson ◽  
Pauleena Pal ◽  
Jongphil Kim ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Breast And Ovarian Cancer

scholarly journals A Collaborative Model to Implement Flexible, Accessible and Efficient Oncogenetic Services for Hereditary Breast and Ovarian Cancer: The C-MOnGene Study

Cancers ◽  
2021 ◽  
Vol 13 (11) ◽  
pp. 2729
Author(s):  
Julie Lapointe ◽  
Michel Dorval ◽  
Jocelyne Chiquette ◽  
Yann Joly ◽  
Jason Robert Guertin ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Ovarian Cancer ◽  
Genetic Counseling ◽  
Evidence Base ◽  
Annual Number ◽  
Breast And Ovarian Cancer ◽  
Patient Centered ◽  
Collaborative Model ◽  
Counseling And Testing ◽  
Number Of Patients

Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants’ understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.

scholarly journals A framework for the evaluation of patients with congenital facial weakness

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Bryn D. Webb ◽  
Irini Manoli ◽  
Elizabeth C. Engle ◽  
Ethylin W. Jabs
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Patient Population ◽  
Clinical Care ◽  
Diagnostic Algorithm ◽  
Accurate Diagnosis ◽  
Facial Weakness ◽  
The Core ◽  
Follow Up Studies

AbstractThere is a broad differential for patients presenting with congenital facial weakness, and initial misdiagnosis unfortunately is common for this phenotypic presentation. Here we present a framework to guide evaluation of patients with congenital facial weakness disorders to enable accurate diagnosis. The core categories of causes of congenital facial weakness include: neurogenic, neuromuscular junction, myopathic, and other. This diagnostic algorithm is presented, and physical exam considerations, additional follow-up studies and/or consultations, and appropriate genetic testing are discussed in detail. This framework should enable clinical geneticists, neurologists, and other rare disease specialists to feel prepared when encountering this patient population and guide diagnosis, genetic counseling, and clinical care.

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