Cost-effectiveness and comparative effectiveness of cancer risk management strategies in BRCA1/2 mutation carriers: a systematic review

Abstract

Prophylactic surgery and intensive breast screening are effective and cost-effective in models of BRCA carrier risk management. Findings were based predominantly on assuming perfect adherence to recommendations without assessment of the health-care resource use and costs related to engaging patients and maximizing compliance, meaning the real-world impact on clinical outcomes and resource use remains unclear.

Population genomic screening of all young adults in a health-care system: a cost-effectiveness analysis

“…This study evaluated the impact on lifetime costs and clinical consequences of offering preventive population genomic screening to all adults aged 18–25 years in Australia, assuming a 71% testing uptake, 13 compared with current estimated rates of targeted testing (15% for cancer gene testing 12 and 5% for preconception carrier screening 23 ). For model design, inputs, and calculations, see Supplementary Materials.…”

“…CEA of population-based cancer gene testing has mostly been in the context of hereditary breast and ovarian cancer (HBOC), 4,5,12 where cost-effectiveness has been demonstrated in the US/UK unselected female population aged >30 years. 13 More recently, some of the first real-world population-based HBOC screening programs have been implemented.…”

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases

“…Some of these studies have estimated the impact on health benefits measured as quality‐adjusted life years (QALYs) or increase in life expectancy of population‐based screening strategies of some genetic conditions. Based on these studies, we estimate a potential increase of 21 years in life expectancy for the diagnosis of congenital cardiomyopathy genes (Wordsworth et al, 2010), 7.6 years for long QT (Quaglini et al, 2006) and 6.0 years in highly penetrant breast cancer genes (Long & Ganz, 2015; Petelin et al, 2018). Because two patients harbored variants in long QT genes ( DSC2 and SCN5A ), four in cardiomyopathy ( KCNH2 , LMNA , MYBPC3 and MYH7 ) and four in high‐penetrance breast cancer ( BRCA1 ( n = 2), BRCA2 and TP53 ), we may speculate an increase of 123.2 years in the life expectancy for our cohort, or 0.246 years/cohort patient.…”

Evaluation of Cancer-Based Criteria for Use in MainstreamBRCA1andBRCA2Genetic Testing in Patients With Breast Cancer

“…1,5 Identification of a BRCA mutation also provides opportunities for relatives to access improved cancer risk information, screening, and risk-reducing interventions, and it is a cost-effective cancer prevention strategy. 4,6,7,8,9,10,11…”