Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis

Abstract

The increasing use of advanced nucleic acid sequencing technologies for clinical diagnostics and therapeutics has made vital understanding the costs of performing these procedures and their value to patients, providers, and payers. The Association for Molecular Pathology invested in a cost and value analysis of specific genomic sequencing procedures (GSPs) newly coded by the American Medical Association Current Procedural Terminology Editorial Panel. Cost data and work effort, including the development and use of data analysis pipelines, were gathered from representative laboratories currently performing these GSPs. Results were aggregated to generate representative cost ranges given the complexity and variability of performing the tests. Cost-impact models for three clinical scenarios were generated with assistance from key opinion leaders: impact of using a targeted gene panel in optimizing care for patients with advanced non-small-cell lung cancer, use of a targeted gene panel in the diagnosis and management of patients with sensorineural hearing loss, and exome sequencing in the diagnosis and management of children with neurodevelopmental disorders of unknown genetic etiology. Each model demonstrated value by either reducing health care costs or identifying appropriate care pathways. The templates generated will aid laboratories in assessing their individual costs, considering the value structure in their own patient populations, and contributing their data to the ongoing dialogue regarding the impact of GSPs on improving patient care.

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

“…Plöthner et al 26 investigated the costs associated with executing WGS in German clinical practice. Sabatini et al 27 conducted a bottom-up cost study of WES in Canada and compared the findings with the costs of the traditional clinical pathway for diagnosing neurodevelopmental disorders, using payer cost-impact models. Van Nimwegen 28 constructed a decision model to examine the cost-effectiveness of WES in clinical practice in the Netherlands.…”

“…3,[31][32][33][34][35][36][37][38][39][40][41][42] Seven studies presented data on the costs of WES or WGS testing pathways, [24][25][26][27][43][44][45] and eight studies presented data on clinically relevant outcome measures for these tests. 5,6,[8][9][10][46][47][48] Of the eight full economic evaluations, two were CUAs 22,23 and six were CEAs, published between 2014 and 2017 in Australia (2), the United States (1), the UK (1), the Netherlands (1), and Canada (1).…”

“…Towne et al 44 estimated the cost of using WES to achieve a diagnosis in rare presentations in a pediatric population. The studies by the Foundation for Genomics and Population Health, 25 Sabatini et al, 27 and Plöthner et al 26 have been described previously.…”

“…38 Thirteen publications stated that costs were estimated within the study; nine of these publications reported their costing approach. [19][20][21][26][27][28]36,37,45 Many publications did not state which components were included in the cost estimate. The costs for reagents ranged from £291 ($420) 35 to £1,171 ($1,685).…”

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer

“…5,6 The NGS high-throughput platform is more efficient and less expensive and provides information that is not provided by single gene-by-gene Sanger DNA sequencing analysis or by gene-specific targeted hot spot mutation assays. 7 The vast number of variants identified by NGS in tumor tissue is attributed to the complexity of carcinogenesis, including the multistep process of genetic mutations and tumor heterogeneity (ie, multiple clones of cells with related but distinct molecular signatures within tumors). 8,9 Herein, tumor refers to tissue deriving from either a benign or malignant neoplasm.…”