Organizational Aspects of the Implementation and Use of Whole Genome Sequencing and Whole Exome Sequencing in the Pediatric Population in Italy: Results of a Survey

Abstract

This study explores the organizational aspects of whole genome sequencing (WGS) implementation for pediatric patients with suspected genetic disorders in Italy, comparing it with whole exome sequencing (WES). Health professionals’ opinions were collected through an internet-based survey and analyzed using a qualitative summative content analysis methodology. Among the 16 respondents, most were clinical geneticists performing only WES, while 5 also used WGS. The key differences identified include higher needs for analyzing genome rearrangements following WES, greater data storage and security requirements for WGS, and WGS only being performed in specific research studies. No difference was detected in centralization and decentralization issues. The main cost factors included genetic consultations, library preparation and sequencing, bioinformatic analysis, interpretation and confirmation, data storage, and complementary diagnostic investigations. Both WES and WGS decreased the need for additional diagnostic analyses when not used as last-resort tests. Organizational aspects were similar for WGS and WES, but economic evidence gaps may exist for WGS in clinical settings. As sequencing costs decline, WGS will likely replace WES and traditional genetic testing. Tailored genomic policies and cost-effectiveness analyses are needed for WGS implementation in health systems. WGS shows promise for enhancing genetics knowledge and expediting diagnoses for pediatric patients with genetic disorders.

Cost-Effectiveness of Whole-Genome vs Whole-Exome Sequencing Among Children With Suspected Genetic Disorders

“…Additionally, omitting data storage needs for WGS and WES is another potential limitation given WGS’s resource-intensive demands . The analysis did not include structural rearrangements analyses costs, which are more often necessary after WES than WGS …”

“… 34 The analysis did not include structural rearrangements analyses costs, which are more often necessary after WES than WGS. 16 , 53 …”

“…The clinical pathway was retrieved using the scientific literature. Briefly, after consultation with medical specialists in the pediatric field, if clinical conditions were suggestive, patients were referred to a genetic specialist who performed genetic consultation and chose the genomic test . Overall, 300 patients received the standard of care (SOC); 480, WES; and 90, WGS.…”