Can we afford to sequence every newborn baby's genome?

Area of Science:

• Genomics
• Healthcare Economics
• Clinical Genetics

Background:

• Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are increasingly used in clinical settings.
• Decreasing sequencing costs prompt consideration of population-wide genomic screening.
• Current cost analyses often overlook interpretation and results return expenses.

Purpose of the Study:

• To evaluate the feasibility of widespread population genomic screening.
• To identify the economic challenges associated with large-scale WES and WGS implementation.
• To argue against the current practicality of population genomic screening.

Main Methods:

• Critical analysis of existing cost-effectiveness models for genomic sequencing.
• Review of the logistical and economic implications of genomic data interpretation.
• Assessment of the challenges in returning genomic information to individuals.

Main Results:

• Cost estimates for WES and WGS frequently underestimate the expenses of accurate data interpretation.
• The process of effectively returning genomic information to individuals presents significant, unaddressed costs.
• Current resources are insufficient for the widespread generalization of population genomic screening.

Conclusions:

• The optimism for broad population genomic screening is currently unfounded.
• Significant advancements in cost-effective interpretation and results return are necessary before widespread implementation.
• Without such advancements, population genomic screening risks overwhelming healthcare systems.