Bottlenecks in molecular testing for rare genetic diseases

Human Mutation
Patrick J Willems

Abstract

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.

References

Aug 13, 2002·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Gary A ChaseSusan Spear Bassett
Jan 14, 2004·European Journal of Human Genetics : EJHG·Béatrice GodardSégolène Aymé
Oct 8, 2004·Nature Biotechnology·Dolores IbarretaElisabeth Dequeker
May 26, 2006·European Journal of Human Genetics : EJHG·Bruno DallapiccolaRita Mingarelli

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Citations

Dec 1, 2009·Journal of Paediatrics and Child Health·Adam JaffeElizabeth Elliott

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