Table 5 One-way scenario and sensitivity analyses of total costs

From: Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial

Costs considered and parameter assumptions

Control arm, US$

WGS arm, US$

Difference between arms, US$ (95% CI)

p

Cardiology cohort

(n = 51)

(n = 49)

  

Base case

9,841

13,376

3,535 (−2,490 to 8,970)

0.236

Downstream costs analyzed

Immediately attributable services

176

5,270

5,094 (5,015 to 5,175)

<0.001

Full genetics workup

9,841

13,400

3,559 (−2,457 to 8,980)

0.234

Secondary findings reported

Omitting carrier status

9,841

13,194

3,353 (−2,634 to 8,780)

0.247

Omitting polygenic risk predictions

9,841

13,372

3,531 (−2,494 to 8,971)

0.236

Reporting criteria for secondary findings about monogenic disease risks and carrier status

Pathogenic or likely pathogenic

9,841

13,250

3,409 (−2,595 to 8,838)

0.243

Only pathogenic

9,841

13,244

3,403 (−2,601 to 8,839)

0.244

No secondary findings

9,941

13,307

3,366 (−1,042 to 7,774)

0.134

Total cost of integrating WGS (base: $5,268)

$500

9,841

8,610

−1,231 (−7,234 to 4,198)

0.371

$1,000

9,841

9,110

−731 (−6,734 to 4,698)

0.387

$2,500

9,841

10,609

769 (−5,234 to 6,198)

0.374

$10,000

9,841

18,110

8,269 (2,266 to 13,698)

0.035

Health-care costs

50% of CMS rates

5,838

10,058

4,219 (1,059 to 7,044)

0.038

75% of CMS rates

7,840

11,717

3,877 (−712 to 7,983)

0.144

150% of CMS rates

13,845

16,695

2,850 (−6,094 to 11,029)

0.323

200% of CMS rates

17,848

20,013

2,165 (−9,718 to 13,041)

0.358

Perspective

Health sector (base case)

9,841

13,376

3,535 (−2,490 to 8,970)

0.236

Third-party payer (excludes out-of-pocket costs)

9,397

13,107

3,710 (−2,272 to 9,082)

0.220

Primary care cohort

(n = 50)

(n = 50)

  

Base case

3,137

8,894

5,756 (4,196 to 7,232)

0.017

Downstream costs analyzed

Immediately attributable services

196

5,290

5,094 (4,982 to 5,211)

<0.001

Full genetics workup

3,137

9,018

5,881 (4,330 to 7,388)

0.015

Secondary findings reported a

Omitting carrier status

3,137

8,668

5,531 (3,974 to 7,014)

0.021

Omitting polygenic risk predictions

3,137

8,878

5,741 (4,177 to 7,224)

0.017

Reporting criteria for monogenic disease risk and carrier status findings

Pathogenic or likely pathogenic

3,137

8,772

5,635 (4,079 to 7,124)

0.019

Only pathogenic

3,137

8,712

5,576 (4,031 to 7,029)

0.020

Total cost of integrating WGS (base: $5,222)

$500

3,137

4,169

1,032 (−538 to 2,525)

0.617

$1,000

3,137

4,669

1,532 (−38 to 3,025)

0.054

$2,500

3,137

6,169

3,032 (1,462 to 4,525)

0.001

$10,000

3,137

13,669

10,532 (8,962 to 12,025)

<0.001

Health-care costs

50% of CMS rates

2,331

7,792

5,461 (4,331 to 6,480)

<0.001

75% of CMS rates

2,734

8,343

5,609 (4,279 to 6,866)

0.003

150% of CMS rates

3,942

9,996

6,054 (3,946 to 8,125)

0.077

200% of CMS rates

4,748

11,098

6,350 (3,689 to 9,031)

0.154

Perspective

Health sector (base case)

3,137

8,894

5,756 (4,196 to 7,232)

0.017

Third-party payer (excludes out-of-pocket costs)

2,607

8,416

5,809 (4,571 to 7,091)

0.013

  1. Analyses compared randomization arms after varying the components that were examined or cost assumptions. Costs included those associated with reviewing family-history reports, prior genetic test results (cardiology cohort, only), and whole-genome sequencing reports, if applicable; and additional health-related costs over the 6-month period afterward.
  2. CI, confidence interval; CMS, Centers for Medicare and Medicaid Services; WGS, whole-genome sequencing.
  3. aScenario analyses of primary care patients assumed monogenic disease risks were considered primary findings.
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