Clinical utility of genomic sequencing

Matthew B. Neu, Kevin M. Bowling, Gregory M. Cooper

Research output: Contribution to journalReview articlepeer-review

12 Scopus citations


Purpose of review Identifying pathogenic variation underlying pediatric developmental disease is critical for medical management, therapeutic development, and family planning. This review summarizes current genetic testing options along with their potential benefits and limitations. We also describe results from large-scale genomic sequencing projects in pediatric and neonatal populations with a focus on clinical utility. Recent findings Recent advances in DNA sequencing technology have made genomic sequencing a feasible and effective testing option in a variety of clinical settings. These cutting-edge tests offer much promise to both medical providers and patients as it has been demonstrated to detect causal genetic variation in ∼25% or more of previously unresolved cases. Efforts aimed at promoting data sharing across clinical genetics laboratories and systematic reanalysis of existing genomic sequencing data have further improved diagnostic rates and reduced the number of unsolved cases.SummaryGenomic sequencing is a powerful and increasingly cost-effective alternative to current genetic tests and will continue to grow in clinical utility as more of the genome is understood and as analytical methods are improved. The evolution of genomic sequencing is changing the landscape of clinical testing and requires medical professionals who are adept at understanding and returning genomic results to patients.

Original languageEnglish
Pages (from-to)732-738
Number of pages7
JournalCurrent opinion in pediatrics
Issue number6
StatePublished - Dec 1 2019


  • genetic diagnostics
  • genetic testing
  • genome sequencing
  • pediatrics
  • rare disease


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