title: Genomic Sequencing Procedure Microcosting Analysis and Health Economic Cost-Impact Analysis: A Report of the Association for Molecular Pathology.
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.
authors.affiliation: Genomic Sequencing Procedures Pricing Project Oversight Committee, a Working Group of the Association for Molecular Pathology Economic Affairs Committee, Bethesda, Maryland; Department of Pathology and Laboratory Medicine, NorthShore University HealthSystem, Evanston, Illinois. Electronic address: lsabatini@northshore.org.
authors.forename: Linda M
authors.initials: LM
authors.lastname: Sabatini
authors.affiliation: Boston Healthcare Associates, Boston, Massachusetts.
authors.forename: Charles
authors.initials: C
authors.lastname: Mathews
authors.affiliation: Boston Healthcare Associates, Boston, Massachusetts.
authors.forename: Devon
authors.initials: D
authors.lastname: Ptak
authors.affiliation: Boston Healthcare Associates, Boston, Massachusetts.
authors.forename: Shivang
authors.initials: S
authors.lastname: Doshi
authors.affiliation: Tynan Consulting, San Francisco, California.
authors.forename: Katherine
authors.initials: K
authors.lastname: Tynan
authors.affiliation: Genomic Sequencing Procedures Pricing Project Oversight Committee, a Working Group of the Association for Molecular Pathology Economic Affairs Committee, Bethesda, Maryland; Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia.
authors.forename: Madhuri R
authors.initials: MR
authors.lastname: Hegde
authors.affiliation: Association for Molecular Pathology, Bethesda, Maryland.
authors.forename: Tara L
authors.initials: TL
authors.lastname: Burke
authors.affiliation: Genomic Sequencing Procedures Pricing Project Oversight Committee, a Working Group of the Association for Molecular Pathology Economic Affairs Committee, Bethesda, Maryland; Department of Pathology, University of Iowa, Iowa City, Iowa.
authors.forename: Aaron D
authors.initials: AD
authors.lastname: Bossler
mesh_terms: D015415:Biomarkers; D002289:Carcinoma, Non-Small-Cell Lung / Q000175:diagnosis / Q000235:genetics; D003365:Costs and Cost Analysis; D059472:Exome; D023281:Genomics / Q000191:economics* / Q000379:methods*; D017048:Health Care Costs; D006319:Hearing Loss, Sensorineural / Q000175:diagnosis / Q000235:genetics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008175:Lung Neoplasms / Q000175:diagnosis / Q000235:genetics; D018803:Models, Economic; D065886:Neurodevelopmental Disorders / Q000175:diagnosis / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000191:economics* / Q000379:methods*
chemical_list: D015415:Biomarkers