Table 1.
Precision medicine interventions in eight of 13 patients who received molecular diagnoses and had resultant changes in clinical care.
| Patient | Gene | Diagnosis name | Intervention modeled | Delphi panel consensus (Y/N) | Cost savings/ costs incurred | QALY savings |
|---|---|---|---|---|---|---|
| 6007 | PCDH19 | Early infantile epileptic encephalopathy | Pulse steroids instead of ICU transfer for midazolam infusion | Y | $9,795 | - |
| 6052 | TANGO2 | Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration (MECRCN) | Carries letter describing diagnosis/treatment recommendations. Subsequent acute encephalopathic episode improved secondary to recommendations | N | n/a | n/a |
| 6147 | TRNT1 | Sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay (SIFD) | Change in family's goals of care avoided one hospitalization, skin biopsy, and EGD/intestinal biopsies | Y | $74,556 | - |
| 6153 | AIRE | Autoimmune polyendocrinopathy syndrome, type I | Vaccination for encapsulated organisms decreased risk of mortality | Y | - | 0.12 |
| 6159 | COL4A4 | Thin basement membrane nephropathy/ Alport syndrome | Avoided a renal biopsy | Y | $8,108 | - |
| 6180 | BTK | Agammaglobulinemia, X-linked | Received 6 additional doses of IVIG | Y | -$9,856 (incurred cost) | - |
| 6193 | NALCN | Congenital contractures of the limbs and face, hypotonia, developmental delay (CLIFAHDD) | Transitioned to home care with non-invasive positive pressure ventilation on hospice instead of remaining in hospital | Y | $134,538 | - |
| 6207 | F13A1 | Factor XIIIA deficiency | Decreased risk of repeat CNS bleed and associated mortality and neurologic complication by initiating prophylactic Factor XIII replacement | Y | -$32,295 (incurred cost) | 11.98 |
| Total: | $184,846 | 12.1 |
ICU, intensive care unit; EGD, esophagogastroduodenoscopy; IVIG, intravenous immunoglobulin; CNS, central nervous system.