Clinical utility of genomic sequencing.

Abstract:

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. SUMMARY:Genomic 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.

journal_name

Curr Opin Pediatr

authors

Neu MB,Bowling KM,Cooper GM

doi

10.1097/MOP.0000000000000815

subject

Has Abstract

pub_date

2019-12-01 00:00:00

pages

732-738

issue

6

eissn

1040-8703

issn

1531-698X

pii

00008480-201912000-00008

journal_volume

31

pub_type

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