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Bottlenecks in molecular testing for rare genetic diseases
Author(s) -
Willems Patrick J.
Publication year - 2008
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.20756
Subject(s) - biology , genetic testing , disease , molecular genetics , rare disease , genetics , genetic diagnosis , computational biology , gene , medicine , pathology
Despite the impressive progress in our understanding of the genetic causes of genetic diseases over the past decade, molecular diagnosis for rare genetic disorders is still in its infancy, being slow, expensive, unreliable, insufficient, and ill‐organized in many countries. This leaves the gap between the hype of the current genomic research and the hope for a simple genetic diagnosis too large for patients and families affected with genetic disease. The bottlenecks in the molecular testing for rare genetic disorders are discussed below. Hum Mutat 29(6), 772–775, 2008. © 2008 Wiley‐Liss, Inc.