The IDeaS initiative: pilot study to assess the impact of rare diseases on patients and healthcare systems

Abstract

Background: Rare diseases (RD) are a diverse collection of more than 7-10,000 different disorders, most of which affect a small number of people per disease. Because of their rarity and fragmentation of patients across thousands of different disorders, the medical needs of RD patients are not well recognized or quantified in healthcare systems (HCS).

Methodology: We performed a pilot IDeaS study, where we attempted to quantify the number of RD patients and the direct medical costs of 14 representative RD within 4 different HCS databases and performed a preliminary analysis of the diagnostic journey for selected RD patients.

Results: The overall findings were notable for: (1) RD patients are difficult to quantify in HCS using ICD coding search criteria, which likely results in under-counting and under-estimation of their true impact to HCS; (2) per patient direct medical costs of RD are high, estimated to be around three-fivefold higher than age-matched controls; and (3) preliminary evidence shows that diagnostic journeys are likely prolonged in many patients, and may result in progressive, irreversible, and costly complications of their disease CONCLUSIONS: The results of this small pilot suggest that RD have high medical burdens to patients and HCS, and collectively represent a major impact to the public health. Machine-learning strategies applied to HCS databases and medical records using sentinel disease and patient characteristics may hold promise for faster and more accurate diagnosis for many RD patients and should be explored to help address the high unmet medical needs of RD patients.

Keywords: Diagnosis; Health care costs; Rare diseases; Utilization.

Fig. 1

Estimated rare disease percentages by healthcare system database and in the medical literature/published data sources. Percentage of patients with each of the 13 of the 14 representative rare diseases for which a percentage was able to be calculated (excludes CMT) in the 4 healthcare system databases, and disease percentage extrapolated to the US population from the medical literature/public data sources. SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic teleangiectasia, 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

Fig. 2

PPPY cost of care of 13 RD versus control. Average per patient per year costs calculated within 2 different healthcare systems databases A Eversana and B NCATS, versus an age-matched control. SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic teleangiectasia, 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

Fig. 3

Eversana RD versus control total costs of 13 RD over 15-year time period. Total costs within the 15-year time period 2005–2020 calculated from the Eversana HCS database for 13 representative RD. Costs were calculated by taking the average PPPY cost by disease (Fig. 2a) and multiplying by the number of patients with the disease (Table 3). SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic teleangiectasia, 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

Fig. 4

NCATS RD versus control total costs of 13 RD over 5-year time period. Total costs within the 5-year time period 2002–2007 calculated from the NCATSHCS database for 13 representative RD. Costs were calculated by taking the average PPPY cost by disease (Fig. 2b) and multiplying by the number of patients with the disease (Table 3). SCD sickle cell disease, MD muscular dystrophy, CF cystic fibrosis, HHT hereditary hemorrhagic teleangiectasia, 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

Fig. 5

Diagnostic journey maps in 2 high-cost cystic fibrosis patients. BDP MDI beclomethasone dipropionate metered dose inhaler, CC complication/comorbidity, ICU intensive care unit, PERT pancreatic enzyme replacement therapy

Fig. 6

Diagnostic journey maps in 2 high-cost batten disease patients. CLN2 late infantile neuronal ceroid lipofuscinosis type 2