- Patient Data Registry Approach May Enhance Rare Disease Research
According to the study, those with rare diseases see costs three to five times greater than those without a rare disease. Additionally, most of the approximately 7,000 to 10,000 known rare diseases disproportionately impact children, adolescents, and young adults.
Rare diseases are collectively common and impact about 25 million to 30 million people in the United States. Many of the diseases are genetically caused and can be serious, life-threatening, and difficult to diagnose and treat.
The pilot study was a joint effort among NCATS, Eversana Life Sciences (Chicago), Oregon Health & Science University (Portland), Sanford Health (Sioux Falls), and a health insurer in Australia. Pariser and the team analyzed patients’ diagnosis data in medical records and billing codes.
Researchers used International Classification of Disease (ICD) codes to determine those with rare diseases and their direct medical costs for 14 rare diseases in four health care systems compared to patients without rare diseases of a similar age.
The pilot study aimed to test the viability of this approach in analyzing data on rare disease prevalence and costs. According to the researchers, the 14 rare diseases represent a diverse set of disorders that are different in prevalence, affected organ systems, age of onset, clinical course, and availability of an approved treatment or specific ICD code.
The analysis indicated wide variations of rare disease prevalence in different healthcare systems, which researchers said could be due to demographic differences and health insurance. Additionally, some genetic diseases are more common among certain populations.
The researchers identified the approximate medical cost by studying healthcare system data from NCASTs and Eversana. In every case, the cost per patient per year (PPPY) for those with a rare disease was significantly higher than those without a rare disease of the same age.
According to the Eversana healthcare system databases, PPPY costs ranged from $8,812 to $140,044 for rare diseases patients versus $5,862 for those without a rare disease.
The NCATS data had PPPY costs ranging from $4,859 to $18,994 for rare diseases patients compared to $2,211 for individuals without a rare disease.
“The team reported that extrapolating the average costs estimate for the approximately 25 to 30 million individuals with rare diseases in the United States would result in total yearly direct medical costs of approximately $400 billion, which is similar to annual direct medical costs for cancer, heart failure, and Alzheimer’s disease,” the press release stated.
Additionally, the researchers used patient medical records to trace to diagnostic journeys of four patients with rare diseases. The data provided detailed information regarding the direct medical costs and provided insights into patient clinical management before and after disease diagnosis.
The researchers also found that many of the patients with rare diseases shared similar symptoms. According to NCATS Acting Director Joni L. Rutter, PhD, a co-author of the study, shared commonalities could pave the way for machine learning techniques for healthcare system databases to improve diagnoses.
“Ultimately, to improve the lives of people with rare diseases,” said Rutter, “we need to find innovative ways, including new technologies, to help shorten the lengthy diagnostic odysseys so many patients and families experience and make more treatments available faster.”
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