cmungall
commented
8 years ago Not a Q of why they won't work per se, just there is a different information ecosystem here. There is no point a common heart disease patient registering in a patient registry to find people with a similar condition. No one will publish on this patient individually. They might be of interest as a datapoint in a GWAS, but the entire flow of information is different, with a study being created using a set questionaire rather than open ended phenotype recording. They might also be of interest in a datapoint in a dataset mined from EHRs but we won't supplant EHRs here. Of course, the same datamodel can be shared but that's the trivial part. It seems the hard part is inserting a simple enough format at the required points, but @mellybelly can confirm
harryhoch
drseb
"The format is intended for rare and undiagnosed disease patients. It is not intended for cancer patients (although presence of cancer may be a feature of the disease). It is not intended for common disease patients."
Cancer is certainly a special case that will create many difficulties (some of which we're working on), but why not common diseases? Can we define the format as something that might reasonably be extended to handle common disease?
If not, we should say why common diseases won't work.