Genetic Analysis for Rare Diseases

Genetic analysis is the process of assessing an individual's risk for developing a rare disease or genetic syndrome.

Understanding genetic analysis

Traditionally genetic analysis has been difficult for patients to access directly. By its very nature, it is a process that has always been conducted through in-person appointments. Recent developments in technology and genetic analysis have led to the development of advanced platforms that can provide genetic analysis to patients and their families from the comfort of their own homes. Some of these leading solutions utilize facial analyzing screening technology and techniques, and all a patient needs to start the process is a connected device with a camera. The developments are making genetic analysis more accurate, more advanced, and more accessible, all at the same time.

Online genetic analysis

Online genetic analysis tools are empowering rare disease patients like never before. They allow them to initiate their own diagnostic journey and take control over how it proceeds. More accurate initial genetic analysis at the start of this diagnostic journey means a higher chance of reaching a more accurate, confirmed diagnosis in a faster time. It not only saves precious time, but it also, importantly, reduces the risk of misdiagnosis. Misdiagnosis can lead to delayed support and potential treatment, and for these reasons reducing the rate of misdiagnosis within the rare disease field is crucial to improving patient care and outcomes.

Accessing genetic analysis

Virtual genetic analysis platforms are also removing obstacles for patients in need of analysis. Obstacles that often prevent access to in-person genetic analysis include location, scheduling, and cost. Online genetic analysis removes these barriers and increased accessibility to more potential rare disease patients. This is a significant step forward in reaching more patients, faster and it represents a new stage in rare disease diagnosis that puts patients first.

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