Misdiagnosis and Rare Genetic Syndromes

Understanding misdiagnosis and what we can do to improve rates of confirmed diagnosis for all patients.

A recent study in China of 2040 rare disease patients is shedding light on misdiagnosis in rare disease, and how it may be affected by various factors, including demographics, socioeconomic status, medical history, and access to information about genetic syndromes.

The study overwhelmingly found that rare disease patients who could not access information related to the disease were two to five times more likely to be misdiagnosed. This was true even after accounting for their age, gender, socioeconomic status, and education level. Access to the right information about rare diseases has a considerable influence on whether patients receive a diagnosis rather than a misdiagnosis. 

The study emphasizes the importance of making sure that the information on rare diseases is available through ongoing research and accessible for patients who need it. How this information can be made more accessible is where we should be focusing our efforts in lowering the rate of misdiagnosis amongst rare disease patients.

Promoting genetic counseling as one means of accessing this information is critical, as is building networks of support for families facing a rare disease diagnostic odyssey or diagnosis. 

A misdiagnosis means that a patient and their family cannot access the support and medical care they may need to manage their syndrome or disease. This, in turn impacts on quality of life. An accurate diagnosis is crucial to ensuring optimum care and care management for patients with a rare genetic syndrome. 

FDNA Health is committed to utilizing its AI technology and facial recognition software, for genetic analysis, to help rare disease patients and their families find a diagnosis. Reducing the rates of misdiagnosis in the field of genetic and rare diseases is what drives our technology and service. 

To read the study in full: 

Dong, D., Chung, R.Y., Chan, R.H.W. et al. Why is misdiagnosis more likely among some people with rare diseases than others? Insights from a population-based cross-sectional study in China. Orphanet J Rare Dis 15, 307 (2020). https://doi.org/10.1186/s13023-020-01587-2


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