The work of Nephi Walton, Clinical Geneticist at Geisenger, to map gnomic reports he is using into our IG, requires a data element for InheritanceOfVariant with values De Novo, Unknown, Father (Paternal), Mother (Maternal). The element is meant to indicate weather the variant was found in the patient's parent. This is typical reported in a TRIO analysis (where the patient's genome is compared to close relatives - typically mother and father). The reports generated from these analysis do not always provide supporting documentation. The value is simply stated as metadata that the Lab has regarding the variant.

My proposal is to create a new component in our IG before publishing to accommodate the element.

Looking in our IG, For sequence phase relationship(http://build.fhir.org/ig/HL7/genomics-reporting/obs-sequence-phase-reltn.html) we use the LOINC code for Allelic Phase ( https://r.details.loinc.org/LOINC/82120-7.html) but with a required value set of cis, trans, indeterminate, unknown. This element is specifically for relating a variant observation with other variant observations. I do not think it applicable to Nephi's requirement as De Novo is not a relationship between variants.

The element provides a place for the lab to state whom the variation was inherited from, not the phase.

Full-term name:Variant Inheritance

Shorthand name: InheritanceOfVariant

Definition: Weather or not the variant was inherited from the patient's mother or father.

Value Set: De Novo, Uknown, Maternal, Paternal

I think a component would be best as this is a property of the variant and has no meaning without being a part of an observation of a variant.