Table 3.
Unique patient counts and calculated disease percentages by HCS, and estimates from the medical literature
| Total patient count | NCATS | Eversana | Sanford | OHSU | Med lit | ||||
|---|---|---|---|---|---|---|---|---|---|
| 4,333,968 | * | 1,625,685 | 1,039,213 | N/A | |||||
| Disease | Unique patient count | Percentage (%) | Unique patient count | Percentage (%) | Unique patient count | Percentage (%) | Unique patient count | Percentage (%) | Estimated prevalence |
| SCD | 10,416 | 0.2400 | 38,388 | 0.0340 | 55 | 0.0034% | 259 | 0.0250 | 0.0308% [38] |
| MD | 2763 | 0.0640 | 34,956 | 0.0313 | 407 | 0.0250 | 709 | 0.0680 | 0.0769% [38] |
| CF | 2581 | 0.0600 | 13,856 | 0.0120 | 246 | 0.0151 | 567 | 0.0550 | 0.0090% [38] |
| UCD | 1487 | 0.0340 | 9423 | 0.0084 | 58 | 0.0036 | 93 | 0.0090 | 0.0029% [39] |
| HHT | 1119 | 0.0260 | 21,259 | 0.0190 | 28 | 0.0017 | 341 | 0.0330 | 0.0200% [38] |
| BD | 941 | 0.0220 | 7,821 | 0.0070 | 3 | 0.0002 | 145 | 0.0140 | 0.0030% [38] |
| LGS | 917 | 0.0210 | 42,837 | 0.0380 | 229 | 0.0141 | 503 | 0.0480 | 0.0001% [38] |
| FSGS | 859 | 0.0200 | 11,192 | 0.0100 | 128 | 0.0079 | 153 | 0.0150 | 0.0007% [38] |
| EOE | 755 | 0.0170 | 55,055 | 0.0500 | 581 | 0.0357 | 354 | 0.0340 | 0.0500% [38] |
| OI | 573 | 0.0130 | 5397 | 0.0050 | 73 | 0.0045 | 122 | 0.0120 | 0.0050% [38] |
| MNGIE | 467 | 0.0110 | 7144 | 0.0060 | 5 | 0.0003 | 66 | 0.0060 | 0.0010% [41] |
| Pheo | 250 | 0.0060 | 15,521 | 0.0138 | 19 | 0.0012 | 100 | 0.0100 | 0.0005% [40] |
| TA | 117 | 0.0030 | 1241 | 0.0011 | 14 | 0.0009 | 24 | 0.0020 | 0.0002% [38] |
Unique patient counts by disease extracted from each healthcare system database, and estimated disease percentages within each HCS and for the US population using medical literature/published data sources. Unique patient counts which were used to calculate per patient cost and the total disease cost by disease in Figs. 3, 4
SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic telangiectasia, BD Batten disease, LGS Lennox Gastaut syndrome, FSGS focal segmental glomerulosclerosis, EOE eosinophilic esophagitis, OI osteogenesis imperfecta, MNGIE mitochondrial neurogastrointestinal encephalopathy, Pheo pheochromocytoma, TA Takayasu’s arteritis, CMT Charcot Marie Tooth disease, NCATS National Center for Advancing Translational Sciences, OHSU Oregon Health and Science University, Med Lit medical literature/public data sources, N/A not applicable
*Drawn from ~ 195 million patients in the healthcare system database. Total patient count varied by disease, see Table 1