Pilot Study Evaluating Genome Sequencing for Newborn Screening of Rare Treatable and Actionable Diseases in France

What this Trial Is About

Researchers are studying the use of genome sequencing GS for newborn screening NBS in France, focusing on rare pediatric diseases that may be treatable or actionable early in life. The PERIGENOMED project aims to evaluate the feasibility, acceptability, and clinical relevance of this genomic-based screening method, known as pGS-NBS, by screening newborns for genetic variants linked to early-onset rare diseases. This pilot study will provide insights into the benefits, challenges, and ethical considerations of using genome sequencing in routine newborn screening. The study involves screening approximately 2,500 newborns using pGS-NBS, which uses bioinformatics tools to analyze genome data and identify specific variants associated with treatable or actionable rare diseases. The pilot phase targets two gene lists related to treatable and actionable conditions, with results returned to clinicians within four weeks. Alongside genomic testing, linked humanities and social sciences studies will explore parents reasons for participation or refusal and the psychosocial impact of receiving screening results. Participants will be newborns less than 28 days old from five healthcare centers in France, with parental consent required. The study includes collecting samples, returning results to clinicians, and follow-up medical evaluations for children with positive results for up to five years. Parents will complete questionnaires on satisfaction and psychosocial effects. Researchers will measure acceptance rates, result turnaround times, screening performance, and long-term clinical outcomes to inform the potential expansion of genomic newborn screening in France.

A Pilot Study to Assess the Feasibility and Acceptability of Newborn Screening Using in Silico Panel-based Solo Genome Sequencing in France