Table 3.
Impact of rWES on changes in acute healthcare utilisation and associated healthcare costs in eight patients.
| Patient | Clinical presentation | Gene (Diagnosis) | Expected management / outcome without diagnosis | Healthcare utilisation | Total costs (HKD) | Cost saved (HKD) |
|---|---|---|---|---|---|---|
| RAP014 | Failed Kasai procedure with persistent cholestasis and liver function derangement | JAG1 (Alagille syndrome 1) | Liver transplant | Optimised medical treatment; avoided liver transplant | - | $427,937 |
| RAP022 | Fetal akinesia, generalised hypotonia | ACTA1 (Nemaline myopathy) | Proceed to further invasive diagnostic tests; prolonged NICU stay with futile and ineffective treatment | Avoided EMG, muscle biopsy, NCV test; 47 NICU days (redirection of care at 47 days of life) | $1,146,800 | $3,957,321 |
| RAP022_control | EMG, muscle biopsy, NCV test; 205 NICU days (redirection of care at 205 days of life) | $5,103,110 | ||||
| RAP038 | Fetal akinesia | KLHL40 (AR-nemaline myopathy) | Progressive deterioration; proceed to further invasive diagnostic tests; prolonged NICU stay | Avoided EMG, muscle biopsy, sural nerve biopsy, NCV test; 61 NICU days (redirection of care at 61 days of life) | $1,632,920 | $3,558,705 |
| RAP038_control | EMG, muscle biopsy, sural nerve biopsy, NCV test; 342 IP days and 127 NICU days (passed away at 16 months old) | $5,045,660 | ||||
| RAP042 | Recurrent hypoglycaemia, intermittent hepatomegaly, neutropenia | G6PC (GSD1a) | Continue to manage patient as GSD1b using GM-CSF | Avoided liver biopsy and the use of GM-CSF as treatment | - | $22,230 |
| RAP051 | Recurrent angioedema | SERPING1 (HAE type I) | Continue to manage angioedema with ineffective anti-allergic medications including anti-histamines and steroids | Prescribed anti-histamines and steroids for 32 days; C1 esterase inhibitor indicated in future events | $54 | $6,139 |
| RAP051_control | Continued treatment with antihistamines and steroids for 23 years with poor response | $6,193 | ||||
| RAP068 | Severe congenital pancytopenia | NUDT15 (THPM2) | Proceed to invasive diagnostic procedures for bone marrow failure | Avoided bone marrow aspiration and trephine biopsy | - | $56,075 |
| RAP118 | Recurrent abdominal distension, severe failure to thrive | BRAF (CFC syndrome) | Proceed to full-thickness rectal biopsy to rule out Hirschsprung disease | Avoided full-thickness rectal biopsy | - | $11,332 |
| RAP119 | Recurrent episodes of hyperkalaemia with poor control, elevated renin and aldosterone | WNK4 (PHA type IIB) | Continue to manage patient as RTA type IV with lifelong ineffective medications including frusemide, fludrocortisone and sodium supplements | Prescription of hydrochlorothiazide; stopped frusemide, fludrocortisone, and sodium supplements | Annual cost of $128 | Annual cost of $4,510 |
| Prior diagnosis: prescribed frusemide, fludrocortisone, and sodium supplements | Annual cost of $4638 | |||||
| Total healthcare savings | $8,044,250 (GBP£796,460) | |||||
| Cost of rWES for 102 families | $2,719,063 (GBP£269,214) | |||||
| Net healthcare savings | $5,325,187 (GBP£527,246) | |||||
AR autosomal recessive; CFC Cardiofaciocutaneous; EMG electromyogram; GM-CSF granulocyte-macrophage colony stimulating factor; GSD1a glycogen storage disorder type 1a; GSD1b glycogen storage disorder type 1b; HAE hereditary angioedema; HKD Hong Kong dollars; IP inpatient; NICU neonatal intensive care unit; NCV nerve conduction velocity; PHA Pseudohypoaldosteronism; RTA renal tubular acidosis; THPM2 Thiopurines, poor metabolism of, 2