Friends:
One of the outcomes of the OHDSI Symposium was to begin work on an updated version of OMOP Genomic. The last release was in February 2024, and it’s time for a refresh—especially given the growing interest in genomic marker representation to support clinical use cases and the central role of genomics in cancer research.
Before we start, we would like to gather input from all of you to make sure we’re building on what matters most.
Specifically, we would love your feedback on:
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Gaps or missing elements in the current OMOP Genomic concepts. For example, limitations in representing genomic variation, lack of support for capturing clone- or assay-specific information used in genomic testing, missing metadata, distinctions between germline and somatic mutations, or other model and vocabulary gaps that directly impact your use cases.
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Use cases that are currently limited or blocked by these gaps. Without this context, it will be difficult to prioritize and plan for inclusion of any identified gaps in the v3 update.
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Sources and formats of genomic data you typically work with (e.g., JSON, VCF, text, PDF, etc.) — this will help us plan how to expand KOIOS support
Let’s use November and December to gather feedbacks and use cases. In January, we’ll summarize community input, outline priorities for the update, and develop a shared roadmap for OMOP Genomic v3.
Please share your thoughts here under this post or here in Teams under this post.
Thanks!
Asieh
