Why is misdiagnosis more common in some rare genetic syndromes than others? A cross-sectional study in China provides us with some answers
Misdiagnosis and Second Opinion Guide
We explore why the high rate of misdiagnosis in rare diseases makes a second opinion so crucial
Misdiagnosis in rare diseasesOn their way to a confirmed diagnosis of a rare disease, many patients face a misdiagnosis. For example, it is believed that up to 56% of Ehlers Danlos patients receive a misdiagnosis at some point. This high rate of misdiagnosis causes untold issues and problems for patients and their families. It limits their access to the right medical care and the necessary support needed for living with a specific rare disease. It can lead to many years of frustration, doctor's visits, and an overwhelming lack of answers. For this reason, a second opinion is critical for patients seeking a diagnosis of a genetic syndrome. Fortunately, FDNA Telehealth provides an online telehealth platform that can get genetic diagnosis solutions directly to patients.
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The platform also allows rare disease patients the ability to be able to seek a second opinion directly. It provides them with a fast, accurate genetic analysis which can put them on the road to a more accurate diagnosis. It also connects them to a network of genetic counselors and geneticists who can provide the diagnosis they need to access the crucial support and potential treatment necessary. A second opinion should be about reaching a confirmed diagnosis, not providing a more vague analysis about which rare disease it might be. It needs to provide the genetic analysis that can help refer a patient to the specific genetic testing that will bring a definitive diagnosis.
More accurate second opinionReducing the rate of misdiagnosis in the field of rare diseases is no easy task. There is still much that is unknown about both the causes and symptoms of many genetic syndromes. This makes reaching an accurate genetic diagnosis a complicated and long process. However, the advancement of AI technology, and specifically facial analysis technology, is improving the rate and accuracy of genetic diagnosis, even while research is still ongoing into rare diseases as a whole. It also provides rare disease patients and their families with the option of a second opinion when they need it most.
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