The sooner the better: Genetic testing following ovarian cancer diagnosis

Fox, Edward A.; McCuaig, Jeanna; Demsky, Rochelle; Shuman, Cheryl; Chitayat, David; Maganti, Manjula; Murphy, Joan; Rosen, Barry P.; Ferguson, Sarah E.; Armel, Susan

doi:10.1016/j.ygyno.2015.03.057

Cited by 22 publications

(23 citation statements)

References 36 publications

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“…Importantly, when offered genetic testing, most patients with ovarian cancer proceed with testing7 36–40 and would prefer to receive genetic testing early on in the course of their disease 36 41. In a recent prospective analysis of >10 000 individuals referred for BRCA1/2 genetic counselling and testing, over 85% of patients with ovarian cancer consented to genetic testing and the most common reason to decline testing was concern about out-of-pocket costs, which is irrelevant in the Canadian context 40.…”

Section: Challenges and Opportunities In Brca1/2 Assessment In Canadamentioning

confidence: 99%

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

et al. 2018

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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.

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Section: Challenges and Opportunities In Brca1/2 Assessment In Canadamentioning

confidence: 99%

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

et al. 2018

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“…Additional reasons for the failure to get to the genetics team and thus not be tested include: 1) process issues with genetic counseling/testing; 2) physician lack of knowledge; 3) patient unawareness of testing; and 4) patient refusal. Patients for the most part are not the problem …”

Section: Genetics Referral/brca Testing Rates and Barriersmentioning

confidence: 99%

“…Up to 55% of patients seen at academic centers are unaware of testing, and the percentage is greater among African Americans and those who are less well educated . When informed about the value of testing, greater than 85% reported they would be tested if it had a therapeutic implication for them or a benefit to their family . In a small Australian study of 22 women, all reported that they would be tested if there was a therapeutic implication and all believed the advantages outweighed the disadvantages.…”

Section: Genetics Referral/brca Testing Rates and Barriersmentioning

confidence: 99%

“…The referral rates in the older reports were in the 10% to 32% range (Table 1). 4,5,[52][53][54][55][56][57][58][59] The more restrictive testing guidelines used, which limited testing to those at "high risk," as defined by a personal history of breast cancer or family history of breast and/or ovarian cancer, contributed somewhat to the under testing. Such restrictions will lead to 40% of inherited mutations being missed.…”

Section: Genetics Referral/brca Testing Rates and Barriersmentioning

confidence: 99%

“…Patients for the most part are not the problem. 53,58,61,62 Understanding who gets tested identifies some of the barriers. Population-based referral rates in Ontario were low despite a publically funded system and universal access.…”

Section: Genetics Referral/brca Testing Rates and Barriersmentioning

confidence: 99%

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Missed therapeutic and prevention opportunities in women with BRCA‐mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature

Hoskins

Gotlieb

2017

CA A Cancer J Clinicians

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Answer questions and earn CME/CNE Fifteen percent of women with epithelial ovarian cancer have inherited mutations in the BRCA breast cancer susceptibility genes. Knowledge of her BRCA status has value both for the woman and for her family. A therapeutic benefit exists for the woman with cancer, because a new family of oral drugs, the poly ADP-ribose polymerase (PARP) inhibitors, has recently been approved, and these drugs have the greatest efficacy in women who carry the mutation. For her family, there is the potential to prevent ovarian cancer in those carrying the mutation by using risk-reducing surgery. Such surgery significantly reduces the chance of developing this, for the most part, incurable cancer. Despite these potential benefits, referral rates for genetic counseling and subsequent BRCA testing are low, ranging from 10% to 30%, indicating that these therapeutic and prevention opportunities are being missed. The authors have reviewed the relevant available literature. Topics discussed are BRCA and its relation to ovarian cancer, the rates of referral for genetic counseling/BRCA testing, reasons for these low rates, potential strategies to improve on those rates, lack of effectiveness of current screening strategies, the pros and cons of risk-reducing surgery, other prevention options, and the role and value of PARP inhibitors. CA Cancer J Clin 2017;67:493-506. © 2017 American Cancer Society.

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Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

et al. 2021

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Objectives Identifying genetic pathogenic variants improves clinical outcomes for children with developmental and epileptic encephalopathy (DEE) by directing therapy and enabling accurate reproductive and prognostic information for families. We aimed to explore the additional personal utility of receiving a genetic diagnosis for families. Methods Semi‐structured interviews were conducted with fifteen families of children with a DEE who had received a genetic diagnosis. The interviews stimulated discussion focusing on the impact of receiving a genetic diagnosis for the family. Interview transcripts were analyzed using the six‐step systematic process of interpretative phenomenological analysis (IPA). Results Three key themes were identified: “Importance of the label,” “Relief to end the diagnostic journey,” and “Factors that influence personal utility.” Families reported that receiving a genetic label improved their knowledge about the likely trajectory of the DEE, increased their hope for the future, and helped them communicate with others. The relief of finally having an answer for the cause of their child's DEE alleviated parental guilt and self‐blame as well as helped families to process their grief and move forward. Delay in receipt of a genetic diagnosis diluted its psychological impact. Significance To date, the factors associated with the personal utility of a genetic diagnosis for DEEs have been under appreciated. This study demonstrates that identifying a genetic diagnosis for a child's DEE can be a psychological turning point for families. A genetic result has the potential to set these families on an adaptive path toward better quality of life through increased understanding, social connection, and support. Early access to genetic testing is important as it not only increases clinical utility, but also increases personal utility with early mitigation of family stress, trauma, and negative experiences.

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The sooner the better: Genetic testing following ovarian cancer diagnosis

Cited by 22 publications

References 36 publications

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Evolution of genetic assessment for BRCA-associated gynaecologic malignancies: a Canadian multisociety roadmap

Missed therapeutic and prevention opportunities in women with BRCA‐mutated epithelial ovarian cancer and their families due to low referral rates for genetic counseling and BRCA testing: A review of the literature

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

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