Clinical whole-exome sequencing: are we there yet?

Atwal, P. S. et al. (2014) Clinical whole-exome sequencing: are we there yet? Genetics in Medicine, 16(9), pp. 717-719. (doi: 10.1038/gim.2014.10) (PMID:24525916)

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Abstract

Background: Clinical laboratories began offering whole-exome sequencing in 2011 at a cost between $4,500 and $9,000. Reported detection rates for deleterious mutations range from 25 to 50%. Based on the experience of our clinical genetics service, actual success rates may be lower than estimated rates. We report results from our own experience along with a survey of clinical geneticists to ascertain (i) current success rates for causal gene detection in a clinical setting; (ii) if there are insurance authorization issues; and (iii) if turnaround times quoted by the clinical laboratories are accurate; we also gauge provider opinions toward clinical whole-exome sequencing. Methods: We reviewed our results and the results of a survey that was electronically distributed to 47 clinical genetics centers. Results: A total of 35 exome reports were available. If all positive results are collated, we observe a success rate of 22.8%. One result incorrectly identified a known benign variant as pathogenic. Some insurers covered all testing, whereas others denied any insurance coverage. Only three (23.1%) of our reports were available within the laboratory’s quoted turnaround times. More than 50% of clinicians queried in our survey had not ordered whole-exome sequencing at the current time, many stating concerns regarding interpretation, insurance coverage, and cost. Conclusion: Clinical whole-exome sequencing has proven diagnostic utility; however, currently many clinicians have concerns regarding interpretation of results, insurance coverage, and cost.

Item Type:Articles
Status:Published
Refereed:Yes
Glasgow Author(s) Enlighten ID:Atwal, Dr Paldeep
Authors: Atwal, P. S., Brennan, M.-L., Cox, R., Niaki, M., Platt, J., Homeyer, M., Kwan, A., Parkin, S., Schelley, S., Slattery, L., Wilnai, Y., Bernstein, J. A., Enns, G. M., and Hudgins, L.
College/School:College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing
Journal Name:Genetics in Medicine
Publisher:American College of Medical Genetics and Genomics
ISSN:1098-3600
ISSN (Online):1530-0366
Published Online:13 February 2014

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