Stream: genomics
Topic: genetic test results
Craig Newman (Dec 19 2019 at 15:38):
I've posted a genetics/genomics testing (but not strictly FHIR related) question on the HL7 Zulip site. While it's not FHIR related only, it was suggested I post here too because more people may be watching here than there. I'll repost the question here, but if you have insights, please post your response on the HL7 Zulip site if you don't mind. Thanks.
https://chat.hl7.org/#narrow/stream/102480-general/topic/genetic.20test.20results
Craig Newman (Dec 19 2019 at 15:39):
I’m working on a project about providers reporting birth defect incidents to a jurisdictional public health system. As part of this, I’m wondering if EHRs are doing much with genetic test results (things like karyotype, single gene sequencing, large scale (whole genome or whole exome) sequencing, micro-array, etc). I’m assuming that at a high-level, there is still a summary ‘result’ and the typical normal/abnormal flag but are other types of discrete data being captured too? The discrete results are likely to be very complex and varied depending on the type of test, so I'm wondering how much of that actually gets into the EHR. I'm not so concerned at this point with exchanging data (although that may come in the future), but more about what data might even be available in the EHR. Any insight would be appreciated. Thanks.
Bret H (Jan 13 2020 at 16:03):
depends on the system. My recommendation is to go directly to the systems that the specific providers use (not just the EMR vendor but the actual IS teams associated with the systems. such as contacting the CMIO).
Last updated: Apr 12 2022 at 19:14 UTC
