Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review

Eccles, Diana; Balmañà, Judith; Clune, Joe; Ehlken, B; Gohlke, Annegret; Hirst, Ceri; Potter, Danielle; Schroeder, Claudia P.; Tyczynski, Jerzy E.; Gómez-García, Encarna B.

doi:10.1007/s12325-016-0281-1

Cited by 49 publications

(45 citation statements)

References 54 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Several recent studies have shown that any woman with epithelial ovarian cancer is eligible by this criterion [5], [6], [7], [8], [9]. Many centers use family history of cancer to determine test eligibility, but this is much less effective in identifying women with BRCA mutations [45]. Some centers restrict testing to nonmucinous or high-grade serous ovarian cancer.…”

Section: Discussionmentioning

confidence: 99%

A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer

Eccleston¹,

Bentley²,

Dyer

et al. 2017

Value in Health

View full text Add to dashboard Cite

ObjectivesTo evaluate the long-term cost-effectiveness of germline BRCA1 and BRCA2 (collectively termed “BRCA”) testing in women with epithelial ovarian cancer, and testing for the relevant mutation in first- and second-degree relatives of BRCA mutation–positive individuals, compared with no testing. Female BRCA mutation–positive relatives of patients with ovarian cancer could undergo risk-reducing mastectomy and/or bilateral salpingo-oophorectomy.MethodsA cost-effectiveness model was developed that included the risks of breast and ovarian cancer; the costs, utilities, and effects of risk-reducing surgery on cancer rates; and the costs, utilities, and mortality rates associated with cancer.ResultsBRCA testing of all women with epithelial ovarian cancer each year is cost-effective at a UK willingness-to-pay threshold of £20,000/quality-adjusted life-year (QALY) compared with no testing, with an incremental cost-effectiveness ratio of £4,339/QALY. The result was primarily driven by fewer cases of breast cancer (142) and ovarian cancer (141) and associated reductions in mortality (77 fewer deaths) in relatives over the subsequent 50 years. Sensitivity analyses showed that the results were robust to variations in the input parameters. Probabilistic sensitivity analysis showed that the probability of germline BRCA mutation testing being cost-effective at a threshold of £20,000/QALY was 99.9%.ConclusionsImplementing germline BRCA testing in all patients with ovarian cancer would be cost-effective in the United Kingdom. The consequent reduction in future cases of breast and ovarian cancer in relatives of mutation–positive individuals would ease the burden of cancer treatments in subsequent years and result in significantly better outcomes and reduced mortality rates for these individuals.

show abstract

Section: Discussionmentioning

confidence: 99%

A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer

Eccleston¹,

Bentley²,

Dyer

et al. 2017

Value in Health

View full text Add to dashboard Cite

show abstract

“…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 . However, even in the current era of more inclusive testing criteria, the majority of women are still not referred for genetic counseling/testing .…”

Section: Genetics Referral/brca Testing Rates and Barriersmentioning

confidence: 99%

“…Such restrictions will lead to 40% of inherited mutations being missed. 3,60 However, even in the current era of more inclusive testing criteria, the majority of women are still not referred for genetic counseling/ testing. 5,55,56 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.…”

Section: Genetics Referral/brca Testing Rates and Barriersmentioning

confidence: 99%

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

View full text Add to dashboard Cite

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.

show abstract

“…There is an inherited component to ovarian cancer; between 5.8% and 24.8% of cases can be attributed to germline mutations in BRCA1 and BRCA2 genes 2. Until recently, BRCA genetic testing has been provided by clinical genetics services.…”

Section: Introductionmentioning

confidence: 99%

Mainstreamed genetic testing for women with ovarian cancer: first-year experience

et al. 2018

View full text Add to dashboard Cite

show abstract

Selecting Patients with Ovarian Cancer for Germline BRCA Mutation Testing: Findings from Guidelines and a Systematic Literature Review

Abstract: AstraZeneca.

Cited by 49 publications

References 54 publications

A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer

A Cost-Effectiveness Evaluation of Germline BRCA1 and BRCA2 Testing in UK Women with Ovarian Cancer

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

Mainstreamed genetic testing for women with ovarian cancer: first-year experience

Contact Info

Product

Resources

About