Study of the Week: The High Cost Burden of Rare Diseases

Welcome to Study of the Week from Patient Worthy. In this segment, we select a study we posted about from the previous week that we think is of particular interest or importance and go more in-depth. In this story we will talk about the details of the study and explain why it’s important, who will be impacted, and more.

If you read our short form research stories and find yourself wanting to learn more, you’ve come to the right place.


This week’s study is…

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

We previously published about this research in a story titled “Studies Show a Rare Disease Diagnosis Comes with Tremendously High Health Care Costs,” which can be found here. The study was originally published in the Orphanet Journal of Rare Diseases. You can view the full text of the study here.

What Happened?

It is well understood in the rare disease patient community that rare disease patients deal with significantly higher healthcare costs than patients affected by more common illnesses. This understanding has been consistently backed up by research over the years, and the latest study on this subject confirms that this is an ongoing issue. This research found that rare disease patients paid, on average, three to five times more in healthcare costs than other patients.

Using medical records and insurance records from the Eversana Health Care System and the National Center for Advancing Translational Sciences (NCATS), the researchers sought to quantify the medical costs of rare patients as part of the Impact of Rare Diseases on Patients and Healthcare Systems, which is a retrospective pilot study. Using International Classification of Diseases (ICD) codes, the team looked at the costs associated with 14 different rare diseases.

Along with the data from rare patients, the team also used a control group of non-rare patients so that they could compare costs. The team looked at findings from the Eversana database first. In comparison to the control group, the team found that rare disease costs ranged from 1.5 times to up to 23.9 times higher. This translates into per patient per year (PPPY) costs that were in the range of $8,812 to $140,044; meanwhile, the average PPPY in the control group was just $5,862. Of the 14 rare diseases analyzed in this study, the top three most expensive by PPPY were urea cycle disorder ($140,044), Lennox-Gastaut syndrome ($55,494), and Batten disease ($38,569). The least expensive were sickle cell disease ($15,700), hemorrhagic telangiectasia ($14,265), and eosinophilic esophagitis ($8,812).

The NCATS data found PPPY costs for rare disease patients ranging from $4,859 to $18,994; meanwhile, the average for the control group was just $2,221. The most costly rare diseases from this data included mitochondrial neurogastrointestinal encephalopathy ($18,722), muscular dystrophy ($13,337), and urea cycle disorder ($11,937); the least costly were pheochromocytoma ($6,265), hereditary hemorrhagic telangiectasia ($5,590), and eosinophilic esophagitis ($4,859). NCATS drew exclusively from Medicaid data.

The average PPPY for rare disease patients in the Eversana study was $16,644, and for NCATS it was $10,695. While there are clear differences in that figure, what matters is that the average PPPY was far higher for rare disease patients than for the control groups. 

Why Does it Matter?

These statistics demonstrate that the health system is placing a disproportionate burden on the rare disease patient population. Based on these estimates (along with a rare disease population in the US of around 25 million), direct medical costs are around $400 billion annually. This is comparable to other high-fatality diseases like cancer and heart disease. 

This may seem like a staggering number. However, it’s important to understand that while a single rare disease may not affect a lot of people, when the 7,000 to 10,000 different rare diseases are combined, almost ten percent of the population is impacted directly. With these figures in hand, it’s clear that rare diseases are a major cost burden:

The findings “suggest that rare diseases represent a major impact to public health, have high unmet medical needs, and that there is an urgent and considerable need for earlier and accurate rare disease diagnosis and intervention to address medical management for rare disease patients,” – Anne Pariser, MD

It isn’t very difficult to think of some reasons why costs for rare disease treatment may run higher. First and foremost, delays in diagnosis and treatment (along with misdiagnosis) are bound to be major factors. Some rare disease patients wait months, years, or even decades before getting the correct diagnosis, and in that time frame, they often waste money on incorrect treatments.

Another factor is that therapies for rare diseases can often be exceptionally expensive. In fact, many of the most expensive treatments in the world are intended to treat a rare disease. Pariser and the rest of the research team conclude their study by recommending that physicians get informed about rare diseases. This will allow them to consider the possibility of rare diseases or genetic disorders more often when attempting diagnosis. Additionally, the team states that patients should be referred to a specialist more quickly.

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