We have a requirement from a PHR application developer to model genomics data into the EHR of the person. From our research so far we feel that a person’s VCF file has all the relevant genetic information that will be required in healthcare and so can be assumed to be part of their EHR. While investigating further, we realized that a typical person’s VCF file may have 1000s of variant data sets and if we model the VCF file completely, that can add a large amount of data.
We have a couple of questions
- Is our approach correct? If not what is the recommended best practice for managing genetic information in openEHR?
- Are there any archetypes in the CKM that have been designed for this purpose?
- If we model every row in the VCF file as a cluster instance, the composition can have a very large number of occurrences of that cluster. Is there any best practice on the number of occurrences in one composition
I have imported the aample of a VCF file int a google sheet here https://docs.google.com/spreadsheets/d/1Keh4HXL2fOCj9s5Y-xkdTEFu2G5LLP0Gj3SpzTn7rwM/edit?usp=sharing
If anybody has attempted this before, your advise will be appreciated.