Cost—Utility Analysis of an Integrated Genetic/Epigenetic Test for Assessing Risk for Coronary Heart Disease

Abstract

Aim: New epigenetically based methods for assessing risk for coronary heart disease may be more sensitive but are generally more costly than current methods. To understand their potential impact on healthcare spending, we conducted a cost–utility analysis. Methods: We compared costs using the new Epi + Gen CHD™ test with those of existing tests using a cohort Markov simulation model. Results: We found that use of the new test was associated with both better survival and highly competitive negative incremental cost–effectiveness ratios ranging from -$42,000 to -$8000 per quality-adjusted life year for models with and without a secondary test. Conclusion: The new integrated genetic/epigenetic test will save money and lives under most real-world scenarios. Similar advantages may be seen for other epigenetic tests.

Genetic‐Guided Pharmacotherapy for Coronary Artery Disease: A Systematic and Critical Review of Economic Evaluations

“…Eight EEs examined the use of multiple gene variants to generate genetic risk scores to stratify individuals into different risk levels of CAD, such that those at certain risk levels are offered statins 38 , 39 , 40 , 41 , 42 or statin and antihypertensive medications 43 to prevent CAD. The genetic risk scores, based on up to 49 310 genetic variations (single polynucleotide polymorphisms), 40 may incorporate clinical risk factors 38 or be used alongside another clinical risk score 44 (collectively termed clinical+genetic risk score); the derivation or the validation of these scores were described or cited in the EE.…”

“…Despite the details on genes tested and the ensuing pharmacotherapy, details on the delivery of PGx testing was scant. Only 4 EEs specified the setting (hospital 45 , 46 , 47 or primary care 48 ); 3 EEs named 44 or described the test kits (the gene alleles tested 33 or buccal swab 49 ); 2 EEs 39 , 48 specified who collected the samples (eg, physicians), and 1 EE 41 accounted for genetic counseling.…”

“…Although all EEs specifying that types of test performed and the cost data sources, only 5 EEs specified what the costs of PGx testing included, albeit in varying depth. One 49 included complete cost to the payer for the laboratory service, 1 39 included the cost of the test and a telemedicine visit, 1 42 included the cost of the assay and the bioinformatics analysis, 1 44 included the cost of the assay, the equipment, and quality control (duplicate testing for randomly selected samples), and 1 52 included the costs for obtaining samples and the associated laboratory services.…”

“…In contrast, using genetic risk scores to predict CAD risk gave mostly favorable conclusions on cost‐effectiveness. Most comparisons found it less costly and more effective than clinical risk score (13/20 comparisons 39 , 42 ), or more costly, more effective, and also cost‐effective than no risk score (12/19 comparisons 40 , 43 , 48 ) or no treatment (6/9 comparisons 40 ). Despite the favorable findings, we would recommend validating the genetic risk scores by comparing their predictive accuracy versus non‐PGx risk scores (eg, American College of Cardiology/American Heart Association pooled cohort equation 63 ) in the local population, 64 before any decision on implementation, because the composition genes in the risk scores may vary across the population.…”

The Reversion of DNA Methylation at Coronary Heart Disease Risk Loci in Response to Prevention Therapy

“…Still, like most NextGen prevention technologies, such as Cologuard™, the cost of this test is currently higher than that for existing lipid-based approaches. However, cost-utility analyses show that implementation of this method would not only save lives but decrease overall healthcare costs [11]. As such, this suggests that implementation of this or a similar integrated genetic-epigenetic technology could address the current shortcoming in quantifying risk for CHD.…”