General Feedback - Family Module (GA4GH Pedigree)

[JamedFV]

What were you reviewing?

Family Module

Overview:

This issue will act as a placeholder for discussed changes to align the NCPI FHIR IG's Family Module with the GA4GH Pedigree (consensus reached on 02/25/25 -- notes here)

Additional Comments:

Work for this iteration was proposed and initially merged in #113. However, this PR was closed as it was opened from a fork which causes issues with deployment scripts.

[RadixSeven]

I'll start working on this again today.

[JamedFV]

Good morning @RadixSeven! Checking in ahead of Tuesday's WG, any updates on the Family Module iterations? Hoping to unblock modules wherever possible ahead of the 22nd.

[RadixSeven]

@JamedFV I finally have something for you to look at. The PR also includes some related issues (reducing warnings, dealing with minor problems I encountered during the family module update).

One thing I didn't do was update the family module overview documentation itself. I was focused on just the relationships, their associated documentation, and the related examples.

The most significant off-task modification I made was e3c010f - changing the discussions of what system to use for dbGaP identifiers. My take is an improvement on what was there, but I need to run it by Ming Ward and Mike Feolo. I decided that could be part of the PR process.

[RobertJCarroll]

@RadixSeven Thanks for the update! I just talked with Jamed and the team on this. A couple of thoughts:

1. Is it possible to separate out the work you did on cleaning up the repo? I see a number of good changes in there, but it makes it harder to track what's changed for this complex implementation.
2. It looks like you've re-implemented the profile from GA4GH in our IG. Was it not possible to reference their profile? I'm interested in your rundown on the constraints you hit and interoperability impacts of this approach.

We have this tentatively up for discussion on the 12 August if that works.

[RadixSeven]

@RobertJCarroll

Is it possible to separate out the work you did on cleaning up the repo?

I can separate most of it. But there are some interactions, and it will take rewriting history. I'll need to make a separate branch and discard the current PR. It's probably an extra week's worth of work.

We can talk about alternative, lower-cost processes.

It looks like you've re-implemented the profile from GA4GH in our IG.

Unfortunately, their profile required codes from their own profile. I explain not using it directly in the relationship intro Markdown file

This FamilyRelationship resource is almost compatible with the GA4GH Family Relationships specification. However, we cannot include it in the profile because the GA4GH specification restricts relationships to the codes defined in that standard. Unfortunately, that set of codes does not meet our use cases or interoperability requirements. If the binding had been extensible, we could have inherited from the GA4GH Family Relationships profile and encouraged the use of better codes. However, software written for that profile might be able to read our FamilyRelationship resources as long as it does not rely on the "required" binding.