Feb 15, 2014

Clinical whole-exome sequencing: are we there yet?

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Paldeep Singh AtwalLouanne Hudgins

Abstract

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. We reviewed our results and the results of a survey that was electronically distributed to 47 clinical genetics centers. 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 ...Continue Reading

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  • Citations24

References

Mentioned in this Paper

Pathogenic Organism
Genetic Screening Method
Clinical Genetics
Sequencing
High-Throughput Nucleotide Sequencing
Exome
Genetic Diseases, Inborn
National Hospital Discharge Survey

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