Cost analysis of whole genome sequencing in German clinical practice

Abstract

The estimated costs of WGS currently exceed the prediction of a 'US$1000 per genome', by more than a factor of 3.8. In particular, the material costs in themselves exceed this predicted cost.

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

“…The report by the Foundation for Genomics and Population Health 25 described the costs of WES for colorectal cancer in three UK National Health Service laboratories. Plöthner et al 26 investigated the costs associated with executing WGS in German clinical practice. Sabatini et al 27 conducted a bottom-up cost study of WES in Canada and compared the findings with the costs of the traditional clinical pathway for diagnosing neurodevelopmental disorders, using payer cost-impact models.…”

“…3,[31][32][33][34][35][36][37][38][39][40][41][42] Seven studies presented data on the costs of WES or WGS testing pathways, [24][25][26][27][43][44][45] and eight studies presented data on clinically relevant outcome measures for these tests. 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).…”

“…Towne et al 44 estimated the cost of using WES to achieve a diagnosis in rare presentations in a pediatric population. The studies by the Foundation for Genomics and Population Health, 25 Sabatini et al, 27 and Plöthner et al 26 have been described previously.…”

“…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).…”

“…40,41 Six studies estimated the cost of WGS, four of which used data from commercial sources. 24,26,28,43 Cost estimates ranged from £1,312 ($1,906) for sequencing using the HiSeq X in Germany 26 to £17,243 ($24,810) for an unspecified platform in Canada. 24 Four studies used a transparent bottom-up approach to estimate the cost of WGS.…”