lunes, 19 de agosto de 2013

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders : Genetics in Medicine : Nature Publishing Group

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders : Genetics in Medicine : Nature Publishing Group



Genetics in Medicine | Original Research Article



The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders




Genetics in Medicine
(2013)
doi:10.1038/gim.2013.99


Accepted


Published online




Abstract




Purpose:



The purpose of this study was to assess the diagnostic yield of the traditional, comprehensive clinical evaluation and targeted genetic testing, within a general genetics clinic. These data are critically needed to develop clinically and economically grounded diagnostic algorithms that consider presenting phenotype, traditional genetics testing, and the emerging role of next-generation sequencing (whole-exome/genome sequencing).


Methods:



We retrospectively analyzed a cohort of 500 unselected consecutive patients who received traditional genetic diagnostic evaluations at a tertiary medical center. We calculated the diagnosis rate, number of visits to diagnosis, genetic tests, and the cost of testing.


Results:



Thirty-nine patients were determined to not have a genetic disorder; 212 of the remaining 461 (46%) received a genetic diagnosis, and 72% of these were diagnosed on the first visit. The cost per subsequent successful genetic diagnosis was estimated at $25,000.


Conclusion:



Almost half of the patients were diagnosed using the traditional approach, most at the initial visit. For those remaining undiagnosed, next-generation sequencing may be clinically and economically beneficial. Estimating a 50% success rate for next-generation sequencing in undiagnosed genetic disorders, its application after the first clinical visit could result in a higher rate of genetic diagnosis at a considerable cost savings per successful diagnosis.

Genet Med advance online publication 8 August 2013

View full text



Keywords:


genetic diagnosis; genetic testing; medical genetics evaluation; next-generation sequencing; undiagnosed genetic disorder



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Author information





Affiliations




  1. Department of Pediatrics, Division of Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA



    • Vandana Shashi,

    • Allyn McConkie-Rosell,

    • Bruce Rosell,

    • Kelly Schoch,

    • Kasturi Vellore,

    • Marie McDonald &

    • Yong-Hui Jiang




  2. Center for Human Genome Variation, Duke University Medical Center, Durham, North Carolina, USA



    • Pingxing Xie,

    • Anna Need &

    • David G Goldstein







Corresponding author



Correspondence to:






Supplementary information



Word documents





  1. Supplementary Table S1 (32 KB)






  2. Supplementary Table S2 (30 KB)




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