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Disease-targeted sequencing: a cornerstone in the clinic

2013; Nature Portfolio; Volume: 14; Issue: 4 Linguagem: Inglês

10.1038/nrg3463

1471-0064

Heidi L. Rehm,

Cancer Genomics and Diagnostics

Clinical sequencing tests that focus on genes linked to specific diseases or phenotypes are increasingly widely being used. This article discusses how disease-targeting tests retain several advantages despite moves towards the clinical application of whole-genome or exome sequencing. With the declining cost of sequencing and the ongoing discovery of disease genes, it is now possible to examine hundreds of genes in a single disease-targeted test. Although exome- and genome-sequencing approaches are beginning to compete, disease-targeted testing retains certain advantages and still holds a firm place in the diagnostic evaluation. Here I examine the current state of clinical disease-targeted sequencing and evaluate the benefits and challenges of incorporating sequencing tests into patient care.