Skip to content

Commit

Permalink
update wording of GA4GH reference
Browse files Browse the repository at this point in the history
  • Loading branch information
calkinsh committed Sep 26, 2024
1 parent 9c869ea commit f790be8
Showing 1 changed file with 1 addition and 1 deletion.
2 changes: 1 addition & 1 deletion input/pagecontent/module_family.md
Original file line number Diff line number Diff line change
Expand Up @@ -5,7 +5,7 @@ This module describes family groups and family relationships, often used in geno

This does not include specific methods for managing reports of “family history”. Those elements can either be encoded as specific “Participants” for which data are recorded as assertions and their family relationship to the Participant are recorded OR encoded as assertions from the Participant (eg, “family history of hypertension” or “Maternal history of hypertension”).

We are aware of the extensive work done by GA4GH to model family health history and family relationships via the [Pedigree IG](https://github.com/ga4gh/pedigree-fhir-ig), including their development of the [KIN ontology](https://github.com/ga4gh/pedigree_family_history_terminology). We are working to align our family, family relationship, and family history modeling as closely as possible with the efforts of the Pedigree IG while still supporting the needs of the NCPI partner groups.
We are aware of the work done by GA4GH to model family health history and family relationships via the [Pedigree IG](https://github.com/ga4gh/pedigree-fhir-ig), including their development of the [KIN ontology](https://github.com/ga4gh/pedigree_family_history_terminology). We are engaging to ensure compatibility and meeting needs our family, family relationship, and family history modeling with the efforts of the Pedigree IG while still supporting the needs of the NCPI partner groups.

### Family Study
Family Study describes a group of Participants that are related. This is not an expression of all individuals in a “family”, but a tool to identify “family members of interest” that were studied. For example, a family trio in a rare disease study does not exclude the existence of other siblings. Family Studies do not require much detail, but there are often attributes of those families that may be of use to researchers.
Expand Down

0 comments on commit f790be8

Please sign in to comment.