Will Genetic Testing Alter the Management of Disease Caused by Infectious Agents? A Cost‐Effectiveness Analysis of Gene‐Testing Strategies for Prevention of Rheumatic Fever

Abstract

Cost-effectiveness analysis was done to evaluate the potential health and economic effects of a genetic screening program to identify individuals at risk for rheumatic fever (RF). The current RF prevention strategy was compared with a new, primary prevention strategy involving early genetic testing and intensive prophylaxis to prevent a first attack among individuals at high risk for RF. When analysis of a hypothetical 2000 birth cohort was done from a societal perspective, the prevention strategy involving genetic screening and prophylaxis for high-risk persons reduced the number of RF cases and increased life span at an estimated discounted cost of $7900 per quality-adjusted life-year gained. Genetic screening became the preferred (least expensive) strategy if the test specificity was >/=98%, the annual cost of prophylaxis was <$550, or the annual cost of caring for an individual with severe rheumatic heart disease increased to >$32,000. When used with available antibiotic prophylaxis, genetic testing has the potential to provide a cost-effective strategy for the primary prevention of RF and its sequelae.

Economic Considerations for Health Insurance Coverage of Emerging Genetic Tests

“…For example, the research question from Grann et al [11]may be expressed thus: ‘What is the net cost to society (from a “societal or public health perspective”) per year of life saved of testing Ashkenazi Jewish women unselected for a family history of breast or ovarian cancer for three specific mutations on BRCA1 or BRCA2 genes related to hereditary breast cancer and ovarian cancer using Myriad genetics Inc.’s testing protocol, for the purpose of guiding disease detection and intervention for preventing early death from breast cancer, as compared to the alternative of routine preventive health surveillance (i.e., regular gynecologic examinations and mammography)?’ Filling in the basic elements of the research question helps identify what the study’s evidence is – and is not – about. For policy analysis purposes, it is noteworthy that two of the published studies evaluate applications of genetic testing that are ethically or legally controversial [27, 28]: routine genetic screening of newborns [13]and genetic screening of workers for susceptibility to occupational hazards [15]. …”

“…One study focuses on costs to employers (i.e., health care and worker’s compensation for occupational illnesses) [15]. The remaining 8 studies take a ‘societal’ perspective [7, 8, 11, 13, 14, 16, 17, 19]. A societal perspective should consider comprehensive costs – direct and indirect – regardless of who (health care payers, families, individuals, social programs) incurs them.…”

“…The remaining 14 papers reported economic evaluations that empirically estimated and weighed the costs and effects of molecular genetic tests [6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19]. Basic characteristics of these studies are summarised in table 1; they address a range of health conditions including cancers, thrombosis, cystic fibrosis, mental retardation, occupational illnesses, and rheumatic fever.…”

“…Some economic evaluations conjecture the availability of genetic tests for certain conditions. For example, a study of rheumatic fever screening hypothesises that relevant gene(s) and mutations have been identified, although they have not, and that an effective test has been developed although none is available [13]. A cost-benefit analysis of screening for genetic susceptibility to occupational toxicants is premised on the availability of sufficiently predictive tests, which are not, to date, available [15].…”

“…We illustrate the issues using the 14 full economic evaluations of molecular genetic tests published over the past 5 years [6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19]. Our purpose is not to appraise the methodological rigour of these studies, but rather to show how different researchers have framed key cost-effectiveness issues, and to survey the broader methodological choices available to evaluators.…”