lunes, 19 de agosto de 2013

The utility of the traditional medical genetics di... [Genet Med. 2013] - PubMed - NCBI

The utility of the traditional medical genetics di... [Genet Med. 2013] - PubMed - NCBI

Genet Med. 2013 Aug 8. doi: 10.1038/gim.2013.99. [Epub ahead of print]

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


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


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


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