Facilitated referral pathway for genetic testing at the time of ovarian cancer diagnosis: Uptake of genetic assessment and testing and impact on patient-reported stress, anxiety and depression.

2018 ◽  
Vol 36 (15_suppl) ◽  
pp. 5552-5552
Author(s):  
Sarah S. Lee ◽  
Melissa Kristen Frey ◽  
Deanna Gerber ◽  
Zachary Schwartz ◽  
Jessica Martineau ◽  
...  
2020 ◽  
Vol 38 (15_suppl) ◽  
pp. 1584-1584
Author(s):  
Sarah S. Lee ◽  
Melissa Kristen Frey ◽  
Deanna Gerber ◽  
Zachary Phillip Schwartz ◽  
Jessica Martineau ◽  
...  

1584 Background: This study compared patient-reported stress, anxiety, and depression between newly diagnosed ovarian cancer patients with pathogenic genetic testing results versus patients with non-informative results (i.e., variants of uncertain significance (VUS) or negative). Methods: Patients underwent genetic testing (GT) via a facilitated referral pathway (Frey et al, Gynecol Oncol 2020) through which they were referred for genetic counseling and GT by their gynecologic oncologist within six weeks of diagnosis from 10/2015 to 5/2019. English-speaking patients completed three quality of life (QoL) instruments: Impact of Events Scale (IOES), State-Trait Anxiety Questionnaire (STAI), Hospital Anxiety and Depression Scale (HADS) immediately pre-and post-GT and 6 months post GT. Two-way mixed ANOVA was performed to analyze effect of GT results on QoL over time with significance p < 0.05. Results: One hundred ten patients were enrolled in the pathway and 83 (76%) patients underwent GT. Among these, 15 (18%) had potentially actionable pathogenic mutations ( BRCA1-8, BRCA2-4, MSH2-2, MRE11A-1); 26 (31%) had VUS results; 3 (4%) had both a pathogenic mutation and a VUS result; and 42 (51%) had negative results. Sixty patients (72%) completed QoL assessments pre and post GT, and 37 (44%) patients at 6-9 months post GT. For all patients, GT results did not affect QoL scales across our time points. By mean scores across all-comers, patients demonstrated mild stress at each time point and clinically significant anxiety immediate post-GT. All patients had a statistically significance decrease in HADS depression scores over time from pre-GT to 6 months post-GT (mean score 4.98 vs 2.97, p = 0.020). Patients with VUS had lower HADS mean anxiety scores across time (3.62) compared to patients with pathogenic (7.44) or negative mutations (6.83, p = 0.029). For patients without mutations, there was a significant decrease in clinically significant anxiety by STAI-state score at 6 months (p = 0.002) and a decrease in borderline anxiety by HADS scores at 6 months (p = 0.005). This effect was not present for patients with pathogenic mutations or VUS. Conclusions: A pathogenic result does not impact QoL scales immediately pre or post GT or at 6 months post GT, though patients with negative mutations were more likely to show a decrease in anxiety over time. Patients should be recommended GT at time of diagnosis of ovarian cancer without concern of increased stress, anxiety, or depression based on GT results.


2017 ◽  
Vol 145 (2) ◽  
pp. 409
Author(s):  
E. Fox ◽  
J. McCuaig ◽  
R. Demsky ◽  
C. Shuman ◽  
D. Chitayat ◽  
...  

2018 ◽  
Vol 55 (9) ◽  
pp. 571-577 ◽  
Author(s):  
Jeanna M McCuaig ◽  
Tracy L Stockley ◽  
Patricia Shaw ◽  
Michael Fung-Kee-Fung ◽  
Alon D Altman ◽  
...  

The landscape of genetic testing in ovarian cancer patients has changed dramatically in recent years. The therapeutic benefits of poly ADP-ribose polymerase (PARP) inhibitors in treatment of BRCA1/2-related ovarian cancers has resulted in an increased demand and urgency for genetic testing results, while technological developments have led to widespread use of multi-gene cancer panels and development of tumour testing protocols. Traditional genetic counselling models are no longer sustainable and must evolve to match the rapid evolution of genetic testing technologies and developments in personalized medicine. Recently, representatives from oncology, clinical genetics, molecular genetics, pathology, and patient advocacy came together to create a national multi-disciplinary Canadian consortium. By aligning stakeholder interests, the BRCA Testing to Treatment (BRCA TtoT) Community of Practice aims to develop a national strategy for tumour and germline BRCA1/2 testing and genetic counselling in women with ovarian cancer. This article serves to provide an overview of the recent evolution of genetic assessment for BRCA1/2-associated gynecologic malignancies and outline a Canadian roadmap to facilitate change, improve genetic testing rates, and ultimately improve outcomes for hereditary ovarian cancer patients and their families.


2019 ◽  
Vol 5 (Supplement_1) ◽  
pp. 4-4
Author(s):  
Makayla L. Kochheiser ◽  
Toyin I.G. Aniagwu ◽  
Prisca O. Adejumo ◽  
Olufunmilayo I. Olopade

PURPOSE Breast cancer is the leading cause of cancer-related death among women, and ovarian cancer has the highest case fatality rate of all gynecologic cancers. In Nigeria, approximately 80% of breast and ovarian cancer cases are diagnosed at advanced stages. Genetic testing has the potential to reduce the morbidity and mortality associated with late cancer diagnosis. The introduction of genetic testing for cancer risk assessment at University College Hospital (UCH), Ibadan will serve as a model for the rest of Nigeria. The objective of this study was to introduce genetic testing for cancer risk assessment in patients with breast and ovarian cancer in Ibadan, Nigeria and to determine the demographics of women undergoing testing and their perceptions concerning the benefits of and barriers to genetic testing. METHODS Patients with breast or ovarian cancer were recruited at UCH. All patients received genetic counseling and had the opportunity to consent to the Color Genomics Hereditary Cancer Panel Test, free of charge, after due ethical approval. Patients were tested for 30 gene mutations with known associations to eight hereditary cancers. After testing, patients completed a semistandardized questionnaire assessing their sociodemographic information, family cancer history, and perceived benefits and barriers to genetic testing. RESULTS Seven patients with ovarian cancer and 40 patients with breast cancer received genetic counseling, and all chose to undergo subsequent genetic testing. The average age at testing was 49 years, and the average age at cancer diagnosis was 47 years. Eight women reported a known family cancer history, and there were more perceived benefits than barriers to genetic testing. The genetic test results revealed 27 negative mutations, 16 variants of unknown significance, and four pathogenic mutations. CONCLUSION Patients with breast and ovarian cancer at UCH associate genetic testing with benefits for their care. These results suggest potential for growth and sustainability of genetic testing for cancer risk management in Nigeria.


2021 ◽  
Vol 28 (2) ◽  
pp. 1459-1471
Author(s):  
Jeanna M McCuaig ◽  
Emily Thain ◽  
Janet Malcolmson ◽  
Sareh Keshavarzi ◽  
Susan Randall Armel ◽  
...  

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.


2017 ◽  
Vol 35 (15_suppl) ◽  
pp. e13024-e13024
Author(s):  
Melissa Kristen Frey ◽  
Sarah S. Lee ◽  
Zachary Schwartz ◽  
Deanna Gerber ◽  
Jessica Martineau ◽  
...  

e13024 Background: Genetic assessment (GA) is recommended for all women with ovarian cancer however little is known about the psychological implications of this intervention. We sought to evaluate the psychological response to GA in newly diagnosed ovarian cancer patients as part of our facilitated genetics referral pathway. Methods: English-speaking patients with ovarian cancer undergoing GA at the time of cancer diagnosis completed three validated anxiety, stress and depression survey instruments immediately prior to and following GA and again 6-9 months after GA. Results: Forty-eight English-speaking patients underwent GA; 43 (90%) completed the pre-GA survey, 32 (67%) post-GA survey and 11 (23%) 6-9 months follow-up survey. Eight patients (17%) had documented psychiatric diagnoses (5 anxiety, 2 depression, 1 anxiety+depression) prior to cancer diagnosis. Overall, patients demonstrated mild to moderate stress, clinically significant anxiety and borderline depression (Table 1). There was no change in depression, anxiety or stress scores when comparing pre- to post-GA surveys. Age, stage, method of treatment, performance status at enrollment and history of psychiatric disorders were not associated with anxiety, stress or depression. Conclusions: A genetic testing pathway whereby GA is encouraged and facilitated at the time of diagnosis has not increased patient depression, anxiety or stress in our cohort. Concern about causing additional emotional distress should not deter clinicians from early genetics referral. [Table: see text]


2015 ◽  
Vol 137 (3) ◽  
pp. 423-429 ◽  
Author(s):  
E. Fox ◽  
J. McCuaig ◽  
R. Demsky ◽  
C. Shuman ◽  
D. Chitayat ◽  
...  

2021 ◽  
Vol 11 (9) ◽  
pp. 850
Author(s):  
Rachele M. Hendricks-Sturrup ◽  
Lucson Joseph ◽  
Christine Y. Lu

Background: Patient-reported outcomes (PROs) and PRO measures (PROMs) are real-world evidence that can help capture patient experiences and perspectives regarding a clinical intervention such as genetic testing. Objective: To identify and capture methods and qualitative PRO themes among studies reporting PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Methods: A systematic review was conducted via PubMed/MEDLINE, EMBASE, and Yale University’s TRIP Medical Databases on articles published by April 2021. Results: We identified 24 studies published between 1996 and 2021 representing 4279 participants that reported PROs following genetic testing for FH, breast and ovarian cancer syndrome, and Lynch syndrome. Studies collected and reported PROs from validated PROM instruments (n = 12; 50%), validated surveys (n = 7; 26%), and interviews (n = 10; 42%). PRO themes ranged across all collection methods (e.g., psychological, knowledge, coping and satisfaction, concern about stigma/discrimination, etc.). Conclusions: Important gaps identified include (1) most studies (n = 18; 75%) reported PROs following genetic testing for breast and ovarian cancer, and (2) populations reporting PROs overall were largely of White/Caucasian/Northern European/Anglo-Saxon descent. We offer recommendations and describe real-world implications for the field moving forward.


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