Table 3 Effect of rWGS-based precision medicine on acute healthcare utilization in six infants and three matched controls

From: Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Subject ID

Presentation and modeled change in care

Gene

Time-to-diagnosis, days (method)

Hospital stay, Days

Decreased hospital stay, days (%)

Total cost

Cost avoided

6011

Cholestasis. 1st admision for etiologic Dx

NPC1

7 (G)

8

15 (35%)

$ 25,278

$ 27,004

Cholestasis. 2nd admission for etiologic Dx

15

$ 27,004

6012

Palliative care started DOL 250

ARID1B

26 (G)

250

42 (17%)

$ 1,949,438

$ 327,506

Palliative care started DOL 292

292

$ 2,276,944

6014

Hypotonia. Avoided EMG, GA, muscle biopsy

NEB1

7 (G)

45

2 (6%)

$ 156,914

$ 9900

Control 1

Electromyogram, GA, muscle biopsy

$ 9900

6026

Cholestasis and congenital heart disease. Avoided hepatoportoenterosomy

JAG1

3 (G)

11

3 (18%)

$ 50,327

$ 131,795

Control 2

Kasai hepatoportoenterostomy

$ 44,451

Avg cost

Cost of liver transplant × 43% occurrence

    

$ 87,344

6041

Seizures. Diagnosis DOL 4

KCNQ2

4 (G)

18

41 (69%)

$ 79,675

$ 181,481

Seizures. Diagnosis DOL 42

42 (S)

59

$ 261,156

6053

Hypoglycemia. Diagnosis DOL 12

ABCC8

7 (G)

10

21 (68%)

$ 59,769

$ 125,514

Hypoglycemia. Diagnosis DOL 32

28 (S)

31

$ 185,283

Healthcare savings

  

398

  

$ 803,199

Cost of rWGS in 42 families

     

$ 674,645

Net healthcare savings

     

$ 128,554

  1. GA general anesthesia, G rWGS, GI inpatient gastroenterology, S standard genetic diagnostic test, Avg average
  2. Change in Healthcare costs due to whole-genome sequencing. Patient 6011 would have avoided second hospitalization if NPC1 diagnosis was made on first admission, saving $27,004. Patient 6012 had compassionate withdrawal of care after diagnosis of ARID1B negating need for 42 day planned antibiotic course and continued intensive care stay with a projected cost of $327,506. Patient 6014 avoided a muscle biopsy and EMG and likely need for recovery in NICU from anaesthesia due to hypotonia, saving $9900. Patient 6026 avoided the need for a Kasai saving $44,451 and also avoided 43% increased likelihood of needing liver transplant if the Kasai had been performed resulting in net savings of $87,344 ($203,125 (cost of surgery and 90 days post-transplant) × 43%). Patient 6041 had diagnosis made 38 days earlier than case control who had standard work up one year earlier resulting in savings of $181,481. Patient 6053 had diagnosis of ABCC8 made 21 days earlier than what is the standard from the literature resulting in a net savings of $125,514 from shortened stay in NICU while trying to control severe hypoglycaemia. Total savings was $803,200 which was $128,555 less than actual cost of sequencing all 42 families
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