One thing that might surprise people is how little we know about human genetics and what individual mutations do. The main problem is that there are many differ

One thing that might surprise people is how little we know about human genetics and what individual mutations do. The main problem is that there are many different variations, with so many of them being quite rare, that it's very difficult to estimate the effects of individual mutations. Luckily, there are a lot of good research projects that should help us identify more variants more effectively: https://www.ukbiobank.ac.uk/ https://www.ukbiobank.ac.uk/ and https://allofus.nih.gov/ https://allofus.nih.gov/ are the two most prominent ones. Hopefully those two projects should enable us to get a greater understanding and help us better risk profile patients. For those who are interested: https://www.omim.org/ https://www.omim.org/ and https://www.ncbi.nlm.nih.gov/clinvar/ https://www.ncbi.nlm.nih.gov/clinvar/ are the two main public databases for storing information about genetic diseases. If you ever get yourself sequenced, they can be quite handy.