The main objective of the genetic newborn screening part of the Screen4Care-project is to shorten the path to rare disease diagnosis and to facilitate early intervention. Therefore, genetic newborn screening for currently treatable rare diseases (TREAT-panel approach) will be offered to families expecting a baby. Whole genome sequencing (WGS) will be offered as additional diagnostic approach to newborns participating in Screen4Care TREAT-panel approach, if they develop symptoms suggestive of a genetic disease. To evaluate to what extend genetic newborn screening has an impact on participating infants and their families, a follow-up with standardised questionnaires will be performed for all participating families.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
SCREENING
Masking
NONE
Enrollment
20,000
newborn genetic screening (panel of treatable diseases); whole genome sequencing (if newborn develops symptoms suggestive of a genetic disease)
Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, Hôpital d'Enfants
Dijon, France
RECRUITINGClinic for Neuropediatrics and Muscular Diseases, Freiburg University Medical Center
Freiburg im Breisgau, Germany
RECRUITINGOspedale Pediatrivo Bambino Gesu IRCCS
Rome, Lazio, Italy
RECRUITINGUnit Medical Genetics, Azienda Ospedaliero-Universitaria Sant'Anna
Ferrara, Italy
RECRUITINGAzienda Ospedaliero Universitaria di Modena, Neonatology Unit
Modena, Italy
RECRUITINGSan Pietro Fatebenefratelli Hospital
Roma, Italy
RECRUITINGTREAT-panel
• Percentage of eligible couples who will accept to participate to the genetic newborn screening
Time frame: 1 year
TREAT-panel
• Percentage of infants in whom pathogenic or likely pathogenic variants that predict one of the target diseases will be identified
Time frame: 1 year
Whole Genome Sequencing
• Percentage of symptomatic patients whom parents will accept to be enrolled in whole genome sequencing
Time frame: 2 years
Whole Genome Sequencing
• Percentage of known disease genes where pathogenic variations will be identified by whole genome sequencing in enrolled patients
Time frame: 2 years
Whole Genome Sequencing
• Percentage of infants where genetic diagnosis is achieved by whole genome sequencing
Time frame: 2 years
TREAT-panel
• Clinical follow-up of infants with positive findings in gNBS
Time frame: 1 year
TREAT-panel
• Impact of genetic NBS on parents as assessed by standardized questionnaires
Time frame: 1 year
TREAT-panel
• Carrier frequency of recessive diseases (both autosomal and X-linked) and percentage of variants of unknown significance identified through gNBS.
Time frame: 1 year
TREAT-panel
• Percentage of study participants who develop symptoms of a genetic disease after negative newborn screening and are diagnosed by whole genome sequencing (aggregated data analysis, not reported to participants)
Time frame: 1 year
TREAT-panel
• Impact of positive findings in gNBS on the health care and outcome of study participants
Time frame: 1 year
Whole Genome Sequencing
• Percentage of novel disease genes (phenotype discovery) where pathogenic variations will be identified by Whole Genome Sequencing in enrolled patients
Time frame: 2 years
Whole Genome Sequencing
• Number of VUS identified in known disease genes
Time frame: 2 years
Whole Genome Sequencing
• Number of VUS identified in novel disease genes/phenotypes
Time frame: 2 years
Whole Genome Sequencing
• Diagnostic yield of Whole Genome Sequencing compared to genetic newborn screening
Time frame: 2 years
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