Approximately 20% of rare diseases get diagnosis in my lab. Note these are usually very extreme cases where the people are quite sick. More common genetic disea

Approximately 20% of rare diseases get diagnosis in my lab. Note these are usually very extreme cases where the people are quite sick. More common genetic diseases are picked up by routine clinical genetics which don’t reach me. Interestingly some of the hardest illnesses to detect are those which are common but no known mechanism - since they are common they are hard to detect statistically. If you have a genetic diagnosis you are more likely to get medical care targeting the root cause instead of treatments that can only treat the general symptoms - like anti inflammatory drug, etc. In rare cases people may get transfusions to replace their protein deficiency, etc.