International Perspectives of Extended Genetic Sequencing When Used as Part of Newborn Screening to Identify Cystic...

Area of Science:

• Genetics
• Newborn Screening
• Pediatric Medicine

Background:

• Extended genetic sequencing (EGS) is being explored for newborn screening (NBS) of cystic fibrosis (CF).
• Implementation of EGS impacts the identification of CRMS/CFSPID (cystic fibrosis transmembrane conductance regulator (CFTR)-related metabolic syndrome/CF Screen Positive Inconclusive Diagnosis), carriers, and missed CF cases.
• Uncertainty in CRMS/CFSPID diagnosis causes parental and professional anxiety.

Purpose of the Study:

• To survey international CF health professionals on preferred EGS approaches for NBS.
• To compare the implications of EGS-specific versus sensitive strategies on diagnostic outcomes.
• To understand the rationale behind preferred EGS implementation in CF NBS.

Main Methods:

• An international survey of cystic fibrosis (CF) health professionals.
• Gathering expert opinions on two distinct EGS implementation strategies: EGS-specific and sensitive.
• Analyzing professional preferences based on potential impacts on CRMS/CFSPID detection and missed CF diagnoses.

Main Results:

• Health professionals acknowledged the anxiety associated with CRMS/CFSPID uncertainty.
• The majority favored a sensitive EGS approach.
• Identifying more CRMS/CFSPID cases was deemed less harmful than missing a CF diagnosis.

Conclusions:

• A sensitive EGS approach in NBS for CF is preferred by most health professionals.
• Early diagnosis and treatment of CF are crucial for improved health outcomes and reduced diagnostic odysseys.
• Increased identification of CRMS/CFSPID may enhance understanding of its management.