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.
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.
Authors: Chloe M Reuter; Jennefer N Kohler; Devon Bonner; Diane Zastrow; Liliana Fernandez; Annika Dries; Shruti Marwaha; Jean Davidson; Elly Brokamp; Matthew Herzog; Joyce Hong; Ellen Macnamara; Jill A Rosenfeld; Kelly Schoch; Rebecca Spillmann; Joseph Loscalzo; Joel Krier; Joan Stoler; David Sweetser; Christina G S Palmer; John A Phillips; Vandana Shashi; David A Adams; Yaping Yang; Euan A Ashley; Paul G Fisher; John J Mulvihill; Jonathan A Bernstein; Matthew T Wheeler Journal: J Genet Couns Date: 2019-09-03 Impact factor: 2.537