Genetic diseases are frequent causes of neonatal morbidity and mortality. To the best of our knowledge, more than four thousand genetic disorders including monogenic, chromosomal, and mitochondrial diseases of known cause are present during the first 28 days of life. Meanwhile, early clinical diagnosis remains a challenge, as disease presentations are often undifferentiated in the neonatal period. Recent advances in next-generation sequencing technologies have raised the possibility of its routine implementation in molecular diagnosis, which has revolutionarily promised a new era in precision medicine in newborn healthcare. Genomic screening of newborns empowers clinicians to identify specific genetic disorders before the appearance of symptoms, and re-analyze the genomic data throughout the individual’s life whenever new indications arise, which could provide access to effective interventions for genetic risk factors. Performing genomic sequencing for diagnosis at an early stage can avoid diagnostic odyssey, guide clinical intervention and precise drug usage, and assist in further reproductive planning. Last but not least, the cutting-edge technology of therapies such as CRISPR/Cas9, and AAV-related RNA injection remain to be explored.
In this Research Topic, we would like to provide an overview of the potential opportunities and challenges of genomic sequencing in the clinical application for newborns from screening to diagnosis and treatment.
This Research Topic aims to publish significant research including original research, case report, clinical trial, review, study protocols, and systematic reviews that highlight the utility of genetic screening and diagnosis in the neonatal period. Special focus will be given (but is not restricted) to the following topics:
• Concerns and interests towards newborn screening with genomic sequencing
• Studies showing the application of NGS in the healthcare setting of newborns to accelerate clinical diagnosis, with discussion on the utilities of rapid genomic sequencing.
• Exploration of genotype-phenotype correlation for neonates with genetic disorders.
• New causal gene identification.
• Bioinformatic analysis approaches for pathogenicity interpretation from genomic data.
• Novel therapeutic development strategies for newborns with genetic disorders.
• Exploratory studies examining the cost-effectiveness of NGS application in newborns.
Genetic diseases are frequent causes of neonatal morbidity and mortality. To the best of our knowledge, more than four thousand genetic disorders including monogenic, chromosomal, and mitochondrial diseases of known cause are present during the first 28 days of life. Meanwhile, early clinical diagnosis remains a challenge, as disease presentations are often undifferentiated in the neonatal period. Recent advances in next-generation sequencing technologies have raised the possibility of its routine implementation in molecular diagnosis, which has revolutionarily promised a new era in precision medicine in newborn healthcare. Genomic screening of newborns empowers clinicians to identify specific genetic disorders before the appearance of symptoms, and re-analyze the genomic data throughout the individual’s life whenever new indications arise, which could provide access to effective interventions for genetic risk factors. Performing genomic sequencing for diagnosis at an early stage can avoid diagnostic odyssey, guide clinical intervention and precise drug usage, and assist in further reproductive planning. Last but not least, the cutting-edge technology of therapies such as CRISPR/Cas9, and AAV-related RNA injection remain to be explored.
In this Research Topic, we would like to provide an overview of the potential opportunities and challenges of genomic sequencing in the clinical application for newborns from screening to diagnosis and treatment.
This Research Topic aims to publish significant research including original research, case report, clinical trial, review, study protocols, and systematic reviews that highlight the utility of genetic screening and diagnosis in the neonatal period. Special focus will be given (but is not restricted) to the following topics:
• Concerns and interests towards newborn screening with genomic sequencing
• Studies showing the application of NGS in the healthcare setting of newborns to accelerate clinical diagnosis, with discussion on the utilities of rapid genomic sequencing.
• Exploration of genotype-phenotype correlation for neonates with genetic disorders.
• New causal gene identification.
• Bioinformatic analysis approaches for pathogenicity interpretation from genomic data.
• Novel therapeutic development strategies for newborns with genetic disorders.
• Exploratory studies examining the cost-effectiveness of NGS application in newborns.