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Finding undiagnosed rare genetic disease patients is incredibly difficult. Despite the challenge, one fact remains true. Nearly all patients on the quest for a diagnosis retreat to the internet out of desperation. Many spend hours searching the web for the underlying cause of their symptoms, and it’s not because they do not trust their doctors. The reality is that physicians must divide their time between all of their patients. Inevitably, some are unintentionally neglected. They spend years seeking answers. It is nearly impossible to diagnose a patient as quickly as they deserve.
In the case of rare diseases, time is of the essence. That is why Probably Genetic develops technology to find undiagnosed patients faster and provide them with genetic testing. The process begins with Probably Genetic’s online symptom checker.
The symptom checker is applied during Probably Genetic’s sponsored testing programs in which eligible patients meeting the criteria for the target disease receive genetic testing at no cost to them. Patients choose what symptoms they experience after reviewing several lists of symptoms.
Of course, patients may have symptoms that are not on the list. There is a second section where patients can list symptoms that were previously missed.
Probably Genetic highly respects physicians and does not intend to omit them from the diagnostic process. Although Probably Genetic’s testing is patient initiated, each case is reviewed by a licensed physician. Additionally, Probably Genetic also asks patients to submit the names of their treating physician(s). Drug developers need to know which physicians are treating patients with specific conditions in order to let those physicians know if clinical trials or approved treatments become available for their patients.
Probably Genetic never shares identifiable information with third parties without the explicit consent of patients.
Over 100,000 patients have created a profile with Probably Genetic to confirm their eligibility for our free genetic testing and counseling programs.