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Genomics case study proposal

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The Clinical Genomics SIG would like present on our experience developing the Family History message. This has been developed over the last 3 years, has been implemented across several vendor packages, and recently received approval as the ANSI standard. We are now testing the Genotype DSTU for transmission of genetic test information.

We have hit most roadblocks and have managed to overcome them, and have managed to navigate the ever-changing landscape of the HL7 committee process. We would love to share our experience.

In terms of your specific request:

Of particular interest are the things that you have had to make project-specific decisions on - version management,

The approved version was version 16. Constant writing and rewriting of translators produced many challenges and costs, many of which were avoidable.


A source of one of the new versions, accepted to gain the support of some HL7 members!

and vocabulary bindings

An ongoing issue, identified weaknesses in several vocabulary systems, difficulties in finding help within the HL7 group, and a source of at least 2 negative votes (Later resolved)

, infrastructure issues,

Depends what you are thinking, but most created from scratch.


Write, test, rewrite, test, new version, test...Huge amounts of time and effort at significant cost

and conformance, more....

This is one session at the WGM that is all about what to do to make implementations work, and only incidentally about how to make the standard better.

We did both, but also found areas where the standards process cost time and money without improving quality.

"What are the top things that you know now that you wish you had known when you started / earlier in the process of implementation?".

We may need more tha 1.5 hours


"What top tips do you have for others implementing using version 3 specifications?"