Imperial College London
Portrait Picture

Dr. Anna C. Need

Faculty of Medicine, Department of Brain Sciences

Honorary Lecturer
 
 
 
//

Contact

 

+44 (0)20 3313 8436a.need Website

 
 
//

Location

 

7N2aCommonwealth BuildingHammersmith Campus

//

Summary

 

Publications

Citation

BibTex format

@article{Shashi:2014:10.1038/gim.2013.99,
author = {Shashi, V and McConkie-Rosell, A and Rosell, B and Schoch, K and Vellore, K and McDonald, M and Jiang, Y-H and Xie, P and Need, A and Goldstein, DB},
doi = {10.1038/gim.2013.99},
journal = {Genet Med},
pages = {176--182},
title = {The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.},
url = {http://dx.doi.org/10.1038/gim.2013.99},
volume = {16},
year = {2014}
}
Download

RIS format (EndNote, RefMan)

TY  - JOUR
AB  - 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.
AU  - Shashi,V
AU  - McConkie-Rosell,A
AU  - Rosell,B
AU  - Schoch,K
AU  - Vellore,K
AU  - McDonald,M
AU  - Jiang,Y-H
AU  - Xie,P
AU  - Need,A
AU  - Goldstein,DB
DO  - 10.1038/gim.2013.99
EP  - 182
PY  - 2014///
SP  - 176
TI  - The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
T2  - Genet Med
UR  - http://dx.doi.org/10.1038/gim.2013.99
UR  - https://www.ncbi.nlm.nih.gov/pubmed/23928913
VL  - 16
ER  -
Download