consider scope.

[harryhoch]

"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.

[cmungall]

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]

Ok, so this is a messaging question.

My suggestion - we should present the model as initially focusing on and scoped for rare disease and to invite extension/collaboration for other cases. Even though we don't want to tackle those cases immediately, coordination of efforts and moving other areas (common disease, GWAS, cancer, etc.) in a similar direction would be hugely helpful...

Meta-suggestion - we should turn the reqs doc into an explicitly enumerated set of goals/principles, with justification....would help tie the paper together.

[drseb]

And who decides which diseases are rare or common? This may change over time, right!?

Meta-suggestion - we should turn the reqs doc into an explicitly enumerated set of goals/principles, with justification....would help tie the paper together.

Agree!
I think this is now collecte in this document