%0 Journal Article
%T A Systematic Approach to Implementing Monogenic Genomic Medicine: Genotype-Driven Diagnosis of Genetic Diseases
%A Sarah Elizabeth Soden
%A Carol Jean Saunders
%A Darrell Lee Dinwiddie
%A Neil Andrew Miller
%A Andrea Michelle Atherton
%A Noor Abu Alnadi
%A J. Steve Leeder
%A Laurie Denise Smith
%A and Stephen Francis Kingsmore
%J Journal of Genomes and Exomes
%D 2012
%I 
%R 10.4137/JGE.S10091
%X Genomic medicine is an emerging paradigm for disease diagnosis and management that incorporates individual genome sequence information based on and identified by next-generation sequencing. Here we report on the initial experience in implementing genomic medicine for inherited diseases in a large childrenĄ¯s hospital. In two families, next-generation sequencing identified molecular diagnoses that had not been disclosed by years of traditional diagnostic tests. Two sisters with progressive ataxia were found to have a mutation in aprataxin gene (APTX c.717G > A, p.Trp239X) and were treated with oral Coenzyme Q10. Two brothers with intellectual disability, dysmorphic features, doughy skin, and truncal obesity were found to have autosomal recessive cutis laxa caused by mutations in pyrroline-5-carboxylate reductase, type 1 (PYCR1 c.120_121delCA). Pediatric genomic medicine appears to enable early diagnosis of inherited diseases that feature clinical or genetic heterogeneity and it may allow for targeted treatment. We discuss several bottlenecks to improving care though genomic medicine, as well as potential solutions.
%U http://www.la-press.com/a-systematic-approach-to-implementing-monogenic-genomic-medicine-genot-article-a3448