Micro-costing diagnostic genomic sequencing: a systematic review.

PURPOSE: Micro-costing can provide valuable economic evidence to inform the translation of genomic sequencing to clinical practice. A systematic literature review was conducted to identify studies employing micro-costing methods to estimate the cost of genomic sequencing to diagnose cancer and rare diseases.

METHODS: Four electronic databases, MEDLINE, Embase, Econlit and CINAHL were searched. Reference lists of identified studies were also searched. Studies were included if they had estimated the cost of genome (GS) or exome sequencing (ES) for cancer or rare disease diagnosis using micro-costing methods.

RESULTS: Seven studies met the inclusion criteria. Cost estimates for GS and ES ranged between US$2,094-$9,706 and US$716-$4,817 per patient respectively. All studies disaggregated resource use and cost inputs into labor, equipment, and consumables, with consumables being the main cost component. Considerable differences in the level of detail utilized to report the steps and resources utilized in each of the sequencing steps limited study comparisons.

CONCLUSION: Defining a standard micro-costing methodology is challenging due to the heterogeneous nature of genomic sequencing. Reporting of detailed and complete sequencing procedures, inclusion of sensitivity analyses and clear justifications of resource use and measurement of unit costs can improve comparability, transferability and generalizability of study findings.