Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement

Abstract

Use of WES early in the diagnostic pathway more than triples the diagnostic rate for one-third the cost per diagnosis, providing strong support for reimbursement as a clinical test.Genet Med advance online publication 26 January 2017.

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature

“…After titles and abstracts were screened and full-text publications assessed for eligibility, 14 publications were identified that fulfilled the inclusion criteria. A review of the reference lists of retrieved publications and the publications of recognized authors in this field identified 22 additional relevant publications (7 of which were identified after July 2016, the planned end date for literature screening [18][19][20][21] ). Overall, 36 relevant publications were identified.…”

“…5,6,[8][9][10][46][47][48] Of the eight full economic evaluations, two were CUAs 22,23 and six were CEAs, published between 2014 and 2017 in Australia (2), the United States (1), the UK (1), the Netherlands (1), and Canada (1). [18][19][20][21][28][29][30] Of these publications, the study by Soden et al 29 did not directly report WES costs but estimated Population unclear 2 (6) No study population 6 (17) WES, whole-exome sequencing; WGS, whole-genome sequencing. a Two costutility analyses, six cost-effectiveness analyses.…”

“…38 Thirteen publications stated that costs were estimated within the study; nine of these publications reported their costing approach. [19][20][21][26][27][28]36,37,45 Many publications did not state which components were included in the cost estimate. The costs for reagents ranged from £291 ($420) 35 to £1,171 ($1,685).…”

“…Stark et al 19 examined the cost-effectiveness of three scenarios for implementing WES as a routine clinical test for infants with suspected monogenic disorders. Integrating WES after standard investigations (including biochemical investigations, imaging, and neurophysiological studies) cost £3,830 ($5,518) per additional diagnosis, replacing a subset of existing investigations with WES cost £1,238 ($1,784) per additional diagnosis, and implementing WES as a first-line test to replace most investigations saved £1,030 ($1,484) per additional diagnosis.…”

From the Data on Many, Precision Medicine for “One”: The Case for Widespread Genomic Data Sharing

“…Australian Genomics has published health economic data demonstrating the value for childhood syndrome patients seen at the Royal Children's Hospital of Melbourne, where the use of whole-exome sequencing increased the diagnostic rate 5-fold over traditional diagnostic tests while decreasing the average cost per patient by 75% [9]. Additionally, 4 times more patients saw improvements in their medical care.…”