Health care costs for people with rare diseases have been underestimated, study shows

A new, retrospective study of medical and insurance records indicates health care costs for people with a rare disease have been underestimated and are three to five times greater than the costs for people without a rare disease. The study, led by the National Institutes of Health’s National Center for Advancing Translational Sciences (NCATS), provides new evidence of the potential impact of rare diseases on public health, suggesting that nationwide medical costs for individuals with rare diseases are on par with those for cancer and heart failure. The study’s results were published Oct. 21 in the Orphanet Journal of Rare Diseases.

There needs to be greater public awareness of the large and growing medical footprint of rare diseases in society. Only about 10% of rare diseases have an FDA-approved therapy for their treatment. The findings underscore an urgent need for more research, and earlier and more accurate diagnoses of and interventions for these disorders.”


Anne Pariser, M.D., senior author, director, NCATS Office of Rare Diseases Research

Most of the approximately 7,000 to 10,000 known rare diseases disproportionately affect children, adolescents and young adults. Individually, most rare diseases might affect only a few hundred to a few thousand people worldwide. However, rare diseases are collectively common, affecting an estimated 25 million to 30 million people in the United States. Many of these diseases have a genetic cause, are serious or life-threatening and are hard to diagnose and treat.

The pilot study was a collaborative effort among NCATS; Eversana Life Sciences, Chicago; Oregon Health & Science University, Portland; Sanford Health, Sioux Falls, South Dakota; and a health insurer in Australia. Pariser and colleagues analyzed patients’ diagnosis information in medical records and billing codes. They used International Classification of Diseases (ICD) codes, which designate a disease diagnosis and other methods, to determine those individuals with rare diseases and their direct medical costs for 14 rare diseases in four health care systems compared to non-rare disease patients of a similar age.

The pilot study aimed to test the feasibility of this approach in analyzing data on rare diseases prevalence and costs. The 14 rare diseases represented a diverse set of disorders that differ in prevalence, organ systems affected, age of onset, clinical course, and availability of an approved treatment or specific ICD code. Examples of the selected rare diseases include sickle cell disease, muscular dystrophy and eosinophilic esophagitis.

The

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Health officials investigating cluster of rare Legionnaires’ disease cases in New York

Health officials on Long Island are investigating 10 reported cases of Legionnaires’ disease — a rare form of pneumonia caused by a bacteria called Legionella. The source of the cluster has yet to be identified, but New York is seeing an uptick in Legionnaires cases statewide, the Nassau County Department of Health said. 

The 10 cases of the disease, first identified in October, have been reported within a one-mile radius in a Long Island neighborhood, the county’s health department said. According to CBS New York, medical teams are working on contact tracing, as well as swabbing and sampling on site to find the cases’ origins. 

The cluster of cases include people between the ages of 35 and 96. As of Saturday, one person has died from Legionnaires, two are hospitalized and seven have been released from the hospital, CBS New York reported. 

People can contract Legionnaires by breathing in a mist or vapor containing the Legionella bacteria, which occur naturally in the environment, according to the county health department. Legionella are commonly found in fountains, spray parks, hot tubs, showers and faucets. The disease is not spread from person to person, the health department said. 

In 2018, there were nearly 10,000 cases of Legionnaires reported in the United States, according to the Centers for Disease Control and Prevention. But the number of cases could have been 2.7 times higher than what was reported because it is often misdiagnosed as one of the more common forms of pneumonia, the CDC said. 

Symptoms of Legionnaires typically begin between two to 10 days after exposure to the bacteria and include shortness of breath, high fever, cough, muscle aches and headache. The disease usually lasts between two to five days and can range from a mild cough to a “rapidly fatal” case of pneumonia, according to the World Health Organization. Complications from the disease can include respiratory failure, shock and acute kidney failure. 

The general death rate for the disease ranges from 5 to 10%, and typically depends on how severe of a case it is, where the disease was acquired, and if the patient has preexisting conditions. Those over the age of 50, current and past smokers, those with chronic lung disease and immunocompromised people are at higher risk of coming down with Legionnaires, the Nassau County Department of Health said. 

Those with Legionnaires are usually treated with antibiotics, and

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