Disease-targeted sequencing: a cornerstone in the clinic
By H. Rehm. 2013
396 citations recorded by the source corpus.
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.
Subfields: Cancer Research, Genetics, Pathology and Forensic Medicine
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Citations in the corpus
- Genes and mutations causing retinitis pigmentosa (2013, background): “Targeted capture, the third NGS strategy, limits testing to exons of known disease-causing genes (41) – in the case of retinal diseases, for example, testing only the 190-plus genes in RetNet (5).”
- Next-generation sequencing: methodology and application. (2013, background): “In addition, sequencing panels that target common regions of interest can be purchased for clinical use; these include panels that target hotspots for cancer-causing mutations (Rehm, 2013).”
- Guidelines for diagnostic next-generation sequencing (2015, methodology): “(2012) and Rehm et al. (2013). Rehm et al. (2013) propose to first perform a disease-targeted panel test. In such a test, only genes with sufficient scientific evidence for a causative role in the disease should be included and physicians must have the possibility to restrict analysis to a subpanel ”