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Updated: Aug 6, 2025

Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies

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Microcosting diagnostic genomic sequencing: A systematic review.

Francisco Santos Gonzalez¹, Dylan Mordaunt¹, Zornitza Stark²

¹Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, The University of Melbourne, Melbourne, Victoria, Australia; Murdoch Children's Research Institute, The Royal Children's Hospital, Melbourne, Victoria, Australia.

Genetics in Medicine : Official Journal of the American College of Medical Genetics

|March 20, 2023

Summary

This summary is machine-generated.

Microcosting studies reveal genomic sequencing costs for cancer and rare diseases range from $716 to $9706 per patient. Standardizing methods is crucial for comparing economic evidence in clinical practice.

Keywords:

Cancer Genomic testing Microcosting Precision medicine Rare diseases

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Metagenomic Analysis of Silage

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Published on: January 13, 2017

Area of Science:

Health Economics
Genomic Medicine
Clinical Diagnostics

Background:

Genomic sequencing offers diagnostic potential for cancer and rare diseases.
Economic evidence is vital for integrating genomic sequencing into clinical practice.
Microcosting provides detailed economic insights into healthcare interventions.

Approach:

A systematic literature review identified studies using microcosting for genomic sequencing cost estimation.
Searches were conducted across four major databases (Medline, Embase, EconLit, CINAHL) and reference lists.
Inclusion criteria focused on microcosting studies of genome or exome sequencing for cancer/rare disease diagnosis.

Key Points:

Seven studies met the inclusion criteria.
Genome sequencing costs ranged from $2094–$9706 per patient; exome sequencing costs ranged from $716–$4817 per patient.
Consumables represented the primary cost driver, but study heterogeneity limited direct comparisons.

Conclusions:

Standardizing microcosting methodology for genomic sequencing is challenging due to its complex nature.
Improved reporting of procedures, resource use, sensitivity analyses, and unit costs can enhance comparability and generalizability.
Consistent economic data is essential for informed clinical translation of genomic technologies.