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

Abstract

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.

Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service

“…Clinical cancer genetics is a subspecialty in oncology which aims to identify individuals at increased risk of developing cancer, enabling important informed cancer risk management decisions to be made (Robson et al 2010). These interventions have been demonstrated to have a significant impact on cancer prevention, early detection and outcome (Desmond et al 2015;Finch et al 2014;Wang et al 2012), which is cost-effective and has been found to decrease long-term healthcare costs overall (Barrow et al 2015;Eccleston et al 2017).…”

The New Genomics Era: Integration of genomics into mainstream oncology and implications for psycho‐oncological care

“…Different mainstream models of integrating BRCA testing into the breast cancer pathway have been implemented internationally with great success and high levels of patient and clinician satisfaction . In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer .…”

“…Different mainstream models of integrating BRCA testing into the breast cancer pathway have been implemented internationally with great success and high levels of patient and clinician satisfaction. [14][15][16][17][18] In the United Kingdom, the Mainstreaming Cancer Genetics programme ran from 2013 to 2018 and included testing at diagnosis for young onset (≤45), triple negative, two primary breast cancers ≤60, male breast cancer, or breast cancer plus a first degree relative with breast cancer. 16 It is predicted that if the United Kingdom adopted the MCG breast cancer mainstream testing guidelines, this would result in 2500 BRCA mutations identified per year and find all BRCA mutations from testing only a third of breast cancer patients most likely to carry a mutation.…”

Paradoxes of genetic testing for cancer susceptibility: Empowerment and risk

“…Авторы рассчитали модель, включающую риски и эффекты при обращении к превентивным мерам (операция), а также стоимость и влияние на снижение уровня смертности от онкологических заболеваний. В итоге ученые сформулировали основной вывод: направление всех пациенток с раком яичников на прохождение генетического тестирования будет эффективным в долгосрочной перспективе и позволит сократить смертность [15]. Кроме того, в фокусе внимания представителей данного направления оказывается анализ жизненных шансов индивидов в зависимости от таких структурных переменных, как класс, возраст, гендер, раса, коллективность, условия жизни.…”

“…Парадокс 2: Генетическое тестирование одновременно производит ощущение контроля над ситуацией и риск. Это проявляется на нескольких уровнях: а) когда человек узнает, что в семье были случаи рака молочной железы; б) когда человек переходит на новую модель повседневной жизни и постоянно проходит скрининги [20]; в) когда человек решается пройти тест на наличие генетических мутаций и узнает о положительном результате; г) когда человек осознает свою ответственность перед семьей за то, чтобы они тоже прошли этот тест (наиболее остро этот вопрос стоит в отношении детей, в частности ситуации планирования детей); д) когда человек решается на оперативное удаление груди или медикаментозное лечение [15]. Все эти ситуации объединяет то, что, с одной стороны, обретая информацию о предрасположенности к развитию онкологического заболевания, человек получает больший контроль над своей жизнью.…”