Disease-targeted sequencing: a cornerstone in the clinic

Area of Science:

• Genetics
• Molecular Biology
• Clinical Diagnostics

Background:

• Decreasing sequencing costs enable comprehensive genetic analysis.
• Numerous disease-associated genes are continually being discovered.
• Disease-targeted testing is a key component of diagnostic evaluations.

Purpose of the Study:

• To examine the current status of clinical disease-targeted sequencing.
• To evaluate the advantages and challenges of integrating sequencing tests into patient care.

Main Methods:

• Review of current clinical disease-targeted sequencing practices.
• Analysis of benefits and challenges associated with sequencing test implementation.

Main Results:

• Disease-targeted sequencing allows examination of hundreds of genes in a single test.
• Exome- and genome-sequencing are emerging alternatives.
• Disease-targeted testing retains specific benefits in diagnostics.

Conclusions:

• Disease-targeted sequencing remains a vital diagnostic tool.
• Careful evaluation is needed for incorporating sequencing tests into patient care.