Genomic sequencing in clinical practice: applications, challenges, and opportunities

The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screen...

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Bibliographic Details
Published in:Dialogues in clinical neuroscience 2016-09, Vol.18 (3), p.299-312
Main Authors: Krier, Joel B., Kalia, Sarah S., Green, Robert C.
Format: Article
Language:English
Subjects:
clinical genomics
Clinical Research
exome sequencing
Genetic Testing
genome sequencing
genomic sequencing
Genomics
High-Throughput Nucleotide Sequencing
Humans
medical genomics
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Summary:The development of massively parallel sequencing (or next-generation sequencing) has facilitated a rapid implementation of genomic sequencing in clinical medicine. Genomic sequencing (GS) is now an essential tool for evaluating rare disorders, identifying therapeutic targets in neoplasms, and screening for prenatal aneuploidy. Emerging applications, such as GS for preconception carrier screening and predisposition screening in healthy individuals, are being explored in research settings and utilized by members of the public eager to incorporate genomic information into their health management. The rapid pace of adoption has created challenges for all stakeholders in clinical GS, from standardizing variant interpretation approaches in clinical molecular laboratories to ensuring that nongeneticist clinicians are prepared for new types of clinical information. Clinical GS faces a pivotal moment, as the vast potential of new quantities and types of data enable further clinical innovation and complicated implementation questions continue to be resolved.
ISSN:1958-5969
1294-8322
1958-5969
DOI:10.31887/DCNS.2016.18.3/jkrier