Table 3.
Effect of rWGS-based precision medicine on acute healthcare utilization in six infants and three matched controls
| 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 | ||||||
GA general anesthesia, G rWGS, GI inpatient gastroenterology, S standard genetic diagnostic test, Avg average
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