Data-Related and Methodological Challenges in Assessing the Cost-Effectiveness of Traditional and Genomic Newborn...

Area of Science:

• Health Economics
• Public Health Policy
• Genomics

Background:

• Newborn screening (NBS) programs are expanding, necessitating economic evaluations to guide policy decisions.
• Economic evaluations are inconsistently used globally to inform NBS program expansion.
• Advancements in genomic technologies increase the number of conditions suitable for NBS.

Purpose of the Study:

• To review data-related and methodological challenges in cost-effectiveness analyses (CEAs) for NBS programs.
• To highlight issues hindering reliable evidence generation for NBS expansion decisions.
• To emphasize the need for improved data collection and methodological approaches.

Main Methods:

• Narrative review of existing literature on CEAs for NBS.
• Identification and discussion of data gaps and methodological limitations.
• Exploration of challenges specific to genomic NBS.

Main Results:

• Significant challenges exist in identifying comparators and obtaining relevant data.
• Gaps in understanding health outcomes and costs for screened and non-screened populations.
• Difficulties in isolating screening effects from treatment improvements and limited societal cost data.
• Genomic NBS introduces complexities related to simultaneous condition identification and genotype-phenotype knowledge gaps.

Conclusions:

• Addressing data and methodological challenges is imperative for robust CEAs of NBS programs.
• Improved data collection and cross-disciplinary collaboration are needed.
• Reliable economic evidence is essential for informed policymaking on NBS expansion.