Table 2 Recent studies reporting the cost of delivering a diagnostic ES service

From: The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study

Study

1. Reported per-sample cost

2. One-time costs

3. Estimated per-trio cost (original currency)

4. Currency

5. Singleton ES cost (2016 Canadian dollars)

6. Trio ES cost (2016 Canadian dollars)

7. Cost inputs

Lazaridis et al.23

—

—

$7,961

2013 USD

—

$10,866

E, S, Ca

Monroe et al.11

—

—

3,600 €

2014 Euros

—

$5,352

E

Neveling et al.30

1,900 €

450.00 €

4,800 €

2013 Euros

$2,873

$7,257

E, S

PHG Foundation 22

£1,354

£54

£3,954

2015 GBP

$2,432

$7,102

E, S, C

Sabatini et al.—Lab 1 19

$1,499

$163

$4,171

2014 USD

$2,016

$5,609

E, S

Sabatini et al.—Lab 2 19

$3,388

$1,670

$6,824

2014 USD

$4,556

$9,177

E, S

Sabatini et al.—Lab 3 19

$2,428

$659

$5,966

2014 USD

$3,265

$8,023

E, S

Stark et al.13

$3,154.79

$1,154.79

$7,155

2015 AUD

$3,161

$7,169

E, C

Tan et al.31

$3,468.41

$1,010.84

$7,011

2015 AUD

$3,475

$7,025

E, S, C

Tsiplova et al.33

$1,654.8

$159

$4,646

2015 CAD

$1,678

$4,711

E, S

van Nimwegen et al.32

791.75 €

97.69 €

2,180 €

2015 Euros

$1,169

$3,218

E

Vissers et al.18

1,800 €b

—

3,500 €b

2015 Euros

$2,634

$5,131

E

   

Mean =

 

$2,726

$6,720

 
   

Standard deviation =

 

$974

$2,080

 
   

Log-normal cost distribution parameters

 

μlog(cost) = 7.846, σlog(cost) = 0.125

μlog(cost) = 8.766, σlog(cost) = 0.094

 
  1. All costs were converted to 2016 Canadian dollars (column 5) using exchange rates drawn from the Bank of Canada’s Year Average of Exchange Rates for 2016 (1 Australian dollar = 0.9852 Canadian dollars; 1 Euro = 1.4660 Canadian dollars; 1 US dollar = 1.3248 Canadian dollars; 1 UK pound = 1.7962 Canadian dollars) and consumer price index inflation rates for each country (the Netherlands: 1.7% in 2013, 0.7% in 2014, 0.7% in 2015; United States: 1.5% in 2013, 0.8% in 2014, and 0.7% in 2015; Australia: 1.7% in 2015; United Kingdom: 0% in 2015; Canada: 1.4% in 2015). Column 7 shows the elements of a diagnostic ES service that were accounted for in the cost of delivery reported by each study. E, exome sequencing costs; S, Sanger confirmation costs; C, consultation costs; ES, exome sequencing.
  2. aWES costs include all clinical laboratory costs except for Sanger confirmation (i.e., the cost of exome sequencing, bioinformatics analysis, and interpretation).
  3. bStudy reports lab costs for both solo and trio ES.
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