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Sequencing-based diagnostics for pediatric genetic diseases: progress and potential.

Ahmad N Abou Tayoun1,2, Bryan Krock1,2, Nancy B Spinner1,2

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Next Generation Sequencing (NGS) has revolutionized pediatric diagnostics, enabling molecular diagnoses for genetic diseases in children. Challenges remain, but NGS applications are expanding into prenatal and other areas.

Keywords:
Genomic diagnosticsexome sequencinggenome sequencingnext generation sequencingpediatric diagnosticsvariant interpretation

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Area of Science:

  • Genomics
  • Pediatric Diagnostics
  • Molecular Biology

Background:

  • The Human Genome Project and Next Generation Sequencing (NGS) have driven significant advancements in clinical diagnostics over the past two decades.
  • Genetic diseases in children represent a substantial area of clinical concern, necessitating accurate and timely diagnoses.

Purpose of the Study:

  • To review the current applications of sequencing-based diagnostics in pediatrics.
  • To discuss the technical aspects and diagnostic strategies utilizing NGS for pediatric genetic diseases.
  • To identify and analyze the challenges and future prospects of genomic sequencing in this field.

Main Methods:

  • Review of current literature on sequencing-based pediatric diagnostics.
  • Analysis of technical aspects of Next Generation Sequencing (NGS).
  • Discussion of strategies for molecular diagnosis in pediatric genetic disorders.

Main Results:

  • NGS has become a transformative technology, narrowing the gap between research and clinical practice.
  • Emerging therapeutic interventions are increasingly based on genomic findings.
  • Applications of NGS are expanding into prenatal genetics, epigenomics, and transcriptomics.

Conclusions:

  • Sequencing-based diagnostics, particularly NGS, are crucial for advancing pediatric genetic disease diagnosis.
  • Addressing challenges in genomic sequencing, such as variant knowledge gaps and data limitations, is essential for further progress.
  • The integration of NGS into clinical practice holds significant promise for improved pediatric healthcare outcomes.