Patients with rare diseases incur nearly half of all health care costs in U.S.

Advocate Aurora Research Institute investigators co-author study comparing health care utilization of adult and pediatric patients with rare diseases to those without rare diseases in the U.S.

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Treatment of rare diseases accounts for nearly half of the national hospital health care bill, despite representing less than 10% of the U.S. population, according to a new study from Advocate Aurora Research Institute research scientists.

The study, recently published in the journal Genetics in Medicine, found that the cost discrepancy was a result of a higher rate of charges per discharge, longer hospital stays and a disproportionate number of hospital visits for patients with rare diseases compared to patients with common conditions. This held true for both adult and pediatric hospital inpatient stays, readmissions and emergency visits.

“Health care utilization by patients with rare diseases has not been well documented in the U.S.,” said Sheldon Garrison, PhD, senior author of the publication. Dr. Garrison was a research scientist for the Research Institute’s Ed Howe Center for Health Care Transformation while conducting the study. “Our study is a comprehensive investigation into the impact of rare disease patients within health care that far exceeds the prevalence of patients affected by these conditions.”

Researchers estimate there are more than 10,000 different rare diseases that together affect between 10 and 30 million people in the U.S. In the U.S., a rare disease is defined as one affecting fewer than 200,000 people.

“Although each of these diseases is considered rare, they are often serious, limit quality of life and are potentially life threatening,” said Angela Navarrete-Opazo, MD, PhD, senior research associate for the Howe Center and co-author of the publication. “On top of that, patients with rare diseases often experience significant psychosocial, occupational and financial hardship.”

The purpose of the study was to compare health care utilization of adult and pediatric patients with rare diseases to those without rare diseases in the U.S. The researchers used the 2016 Healthcare Cost and Utilization Project databases to extract health care utilization data using International Classification of Diseases, Tenth Revision (ICD-10) codes. The data include all inpatient, readmission and emergency department discharges from 2016, the most recent year with data from all three sources.

Hospital charges for all rare diseases in the U.S. totaled $768 billion in 2016. For individuals, the direct health care cost can reach millions of dollars per year for certain rare diseases, with cost drivers including hospitalizations, emergency room visits, medications, dental health, palliative care, outpatient visits, insurance cost and reimbursement, rehabilitation care, home health care, assistive devices, social services, and caregiver support.

The study found that a rare disease in a patient’s record was the single biggest predictor of health care services incurred.

Patients with rare diseases had longer average hospital stays (6.3 days) compared to patients with common conditions (3.8 days) and nearly double the average total charges per hospital discharge ($69,275) compared to patients with common conditions ($36,718).

Both discrepancies were even greater when looking solely at pediatric patients: an average hospital stay of 9.1 days for patients with rare diseases compared to just 2.8 days for patients with common conditions; and $89,618 per hospital discharge for patients with rare diseases compared to $14,226 per hospital discharge for patients with common conditions.

Additionally, patients with rare diseases were more likely to undergo a greater number of inpatient procedures per inpatient stay, more likely to be transferred to another health care facility, more likely to require home health care, more likely to die during inpatient stay and less likely to be routinely discharged to their homes compared to patients with common conditions.

“Part of the Howe Center’s mission is to transform health care delivery and improve cost of care outcomes,” said Michelle Simpson, PhD, RN, director of the Howe Center. “Studies like this achieve that goal by demonstrating the need for health systems to improve health care access for patients with rare diseases and to incorporate cost-saving measures.”

To learn more about Advocate Aurora Health research, visit aurora.org/research.

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About Advocate Aurora Research Institute

Advocate Aurora Research Institute is a not-for-profit, limited liability company of Advocate Aurora Health. Advocate Aurora has emerged as a national destination for patient-centered bench, translational and clinical research, and the Research Institute unifies the innovative research efforts throughout the health system. Advocate Aurora researchers focus on rapidly translating new discoveries from the scientist’s bench to the patient’s bedside and into the community we serve to improve options and outcomes that change not only the lives of individuals, but transform the health of populations.