Study reveals racial disparities in Huntington’s disease diagnoses
New led by UCLA Health revealed that Black patients with Huntington's disease in the U.S. and Canada received their diagnoses, on average, one year later compared to White patients after symptoms first appear.
Huntington’s disease is a rare, incurable genetic disease that causes a gradual death of nerve cells, resulting in a variety of symptoms affecting movement, emotions and cognition. About 41,000 Americans have the disease and 200,000 are at risk of inheriting it, according to the Huntington’s Disease Society of America. Children of a parent with Huntington’s disease has a 50% of getting it.
The study, published in the journal Neurology: Clinical Practice, analyzed health data collected from nearly 5,000 Huntington’s disease patients from the U.S. and Canada.
Dr. Adys Mendizabal, lead author of the study and UCLA Health assistant professor of neurology, said early diagnosis is essential for allowing patients to access appropriate care and prepare for the significant life changes resulting from the neurodegenerative disease.
“The sooner people come into care, the more information they have and the more they can plan,” Mendizabal said. “Ultimately, we cannot yet change of the progression of the disease but we can definitely change the quality of life that people and their families experience while having the disease.”
While the data does not include specific information as to why Black patients receive a later diagnosis, Mendizabal said studies have documented racial and ethnic disparities in healthcare access to general neurologists and specialists for neurological care.
Delayed diagnoses also have implications in exacerbating underrepresentation of minority groups in clinical trials for treatments.
“We have a lot of clinical trials in Huntington’s that focus on disease modification, trying to prevent or slow down the onset of symptoms,” Mendizabal said. “But if you know that we have certain subgroups of patients that are experiencing delayed diagnoses or coming in with more severe disease, then they may not be eligible to be part of a clinical trial.”
The findings rely on the multicenter research platform. Led by the privately-funded CDHI Foundation, the platform is the world’s largest observational study of Huntington’s disease patients and provides publicly available health data for researchers.
UCLA Health used the data to investigate whether the time it takes to diagnose Huntington's disease after symptoms first appear is influenced by factors such as race, socioeconomic status, initial symptoms, and family history awareness.