Health Professionals' Preferences for Next-Generation Sequencing in the Diagnosis of Suspected Genetic Disorders in the Paediatric Population.

Next-generation sequencing (NGS) can explain how genetics influence morbidity and mortality in children. However, it is unclear whether health providers will perceive and use such treatments. We conducted a discrete choice experiment (DCE) to understand Italian health professionals' preferences for NGS to improve the diagnosis of paediatric genetic diseases.

An ecological comparison to inspect the aftermath of post COVID-19 condition in Italy and the United States.

Post COVID-19 Condition (PCC) is a clinical syndrome following COVID-19 disease. PCC symptoms in adults entail significant productivity loss and reduced quality of life. This study aimed at estimating the epidemiological and economic burden of PCC among the working-age population of Italy and the US.

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

Importance: The diagnosis of rare diseases and other genetic conditions can be daunting due to vague or poorly defined clinical features that are not recognized even by experienced clinicians. Next-generation sequencing technologies, such as whole-genome sequencing (WGS) and whole-exome sequencing (WES), have greatly enhanced the diagnosis of genetic diseases by expanding the ability to sequence a large part of the genome, rendering a cost-effectiveness comparison between them necessary.

Objective: To assess the cost-effectiveness of WGS compared with WES and conventional testing in children with suspected genetic disorders.

Bayesian cost-effectiveness analysis of Whole genome sequencing versus Whole exome sequencing in a pediatric population with suspected genetic disorders.

Genetic diseases are medical conditions caused by sequence or structural changes in an individual's genome. Whole exome sequencing (WES) and whole genome sequencing (WGS) are increasingly used for diagnosing suspected genetic conditions in children to reduce the diagnostic delay and accelerating the implementation of appropriate treatments. While more information is becoming available on clinical efficacy and economic sustainability of WES, the broad implementation of WGS is still hindered by higher complexity and economic issues.

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.

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.