domingo, 9 de octubre de 2016

Next generation sequencing: Coping with rare genetic diseases in China. - PubMed - NCBI

Next generation sequencing: Coping with rare genetic diseases in China. - PubMed - NCBI



 2016 Aug;5(3):140-4. doi: 10.5582/irdr.2016.01020.

Next generation sequencing: Coping with rare genetic diseases in China.

Abstract

With a population of 1.4 billion, China shares the largest burden of rare genetic diseases worldwide. Current estimates suggest that there are over ten million individuals afflicted with chromosome disease syndromes and well over one million individuals with monogenic disease. Care of patients with rare genetic diseases remains a largely unmet need due to the paucity of available and affordable treatments. Over recent years, there is increasing recognition of the need for affirmative action by government, health providers, clinicians and patients. The advent of new next generation sequencing (NGS) technologies such as whole genome/exome sequencing, offers an unprecedented opportunity to provide large-scale population screening of the Chinese population to identify the molecular causes of rare genetic diseases. As a surrogate for lack of effective treatments, recent development and implementation of noninvasive prenatal testing (NIPT) in China has the greatest potential, as a single technology, for reducing the number of children born with rare genetic diseases.

KEYWORDS:

Next generation sequencing (NGS); chromosome disease; monogenic disease; noninvasive prenatal testing (NIPT); whole exome sequencing (WES)

PMID:
 
27672536
 
PMCID:
 
PMC4995420
 
DOI:
 
10.5582/irdr.2016.01020

[PubMed] 
Free PMC Article