Genomics Inform.  2016 Jun;14(2):42-45. 10.5808/GI.2016.14.2.42.

Ultra-rare Disease and Genomics-Driven Precision Medicine

• Lee S
• Choi M

• KMID: 2328164
• DOI: http://doi.org/10.5808/GI.2016.14.2.42

Abstract

Since next-generation sequencing (NGS) technique was adopted into clinical practices, revolutionary advances in diagnosing rare genetic diseases have been achieved through translating genomic medicine into precision or personalized management. Indeed, several successful cases of molecular diagnosis and treatment with personalized or targeted therapies of rare genetic diseases have been reported. Still, there are several obstacles to be overcome for wider application of NGS-based precision medicine, including high sequencing cost, incomplete variant sensitivity and accuracy, practical complexities, and a shortage of available treatment options.

Keyword

next-generation sequencing; personalized medicine; precision medicine; rare disease; whole exome sequencing; whole genome sequencing

MeSH Terms

Diagnosis
Humans
Precision Medicine*
Rare Diseases
Translating