Welcome to SymptomMatcher
Why genetic diseases are difficult to diagnose
With many genetic diseases, the symptoms often seem unrelated, and so patients and their doctors don't recognize them as co-occuring symptoms. Many of these diseases are also extremely rare, so they may not be considered by an average family practice doctor.
Many patients and their doctors only look to genetic diseases as the culprit after exhausting all other possibilities.
What SymptomMatcher does (and doesn't) do
SymptomMatcher doesn't replace your doctor. It helps you to determine if a genetic disease is a likely cause for your symptoms. We generate a report of the markers and reasons why we think a particular disease is a match, which you can then take to your doctor and discuss where to go from there. It is not a diagnosis. Your doctor or another specialist will do a thorough examination and any tests to diagnose the genetic disease or disorder.
Gene will guide you through the process
We created Gene to guide you through the SymptomMatcher process. He'll ask you questions much like a real Genetic Counselor would to help find co-occuring symptoms you might not think about and narrow the list of possible genetic disease matches.
This is a time consuming process. Our average user spends about 20 minutes using the SymptomMatcher tool. That's why creating an account is important. It will allow you to save your progress and pickup where you left off so that you don't need to complete it all in one sitting.
We won't leave you hanging
When your finished, we'll present you with any genetic diseases that are likely causes for the symptoms you are experiencing. You can then explore out knowledgebase about the disease(s) to learn more about them, any treatment options, what it's like to live with the disease, and more.
You'll also get a generated report with all of your answers and the criteria we used to determine the disease match. You can take that report to your doctor to start the discussion about next steps.