Existing Wording: This is the narrative for the resource. See also the XML (obs-genetics-example1-

somatic.xml.html) or JSON (obs-genetics-example1-somatic.json.html) format. This example

conforms to the profile Standard Profile for Genetics (observation-genetics-cg-prf-

1a-genetics.html) (FHIR Specification Core)).

Comment:

The JSON does probably match the current FHIR structure. But the narrative report leaves out most of the real information - most importantly the fact that the patient has that mutation.

But this raises a general problem of how how much to say and show and the mis fit with of the general model with existing reporting styles for some content. Which tends to report the mutations looked for (this one is a sequencing) and then those found (if any). The example Mayor report descries what was found as "wild type" See below The blue text is inserted to show how these are sometimes being reported with LOINC labels in HL7 messages

Example report on mayo web site

EGFR Gene, Mutation Analysis, Tumor

RECEIVED: 06/11/2013 12:04 REPORTED: 06/11/2013 17:05

Specimen Tissue-Tumor MCR

Specimen ID 1062170 MCR

Order Date 11 Jun 2013 13:12 MCR

Reason for Referral MCR

Evaluate tumor DNA for presence of a mutation in exons 18-21

of the EGFR gene.

Method MCR

Microscopic examination was performed by a pathologist to

identify areas of tumor for enrichment by macro dissection.

A PCR based assay employing allele specific amplification

was used to test for the presence of

21666-3 EGFR gene mutations tested for 29 mutations within exons 18-21 of the EGFR gene (G719A, G719S, G719C in exon

18; small deletions in exon 19; T790M, S768I, and small

insertions in exon 20; and L858R and L861Q in exon 21).

Mutation nomenclature is based on GenBank accession number;

48013-7 Genomic reference sequence NM005228.3. (This may not be the right format which I think would be NM_005228.3

Result MCR

Tumor type: Lung Adenocarcinoma

-

21665-5 EGFR gene mutations found EGFR status: Wild-type

Interpretation MCR

THIS IS REALLY BOILER PLATE COMMENT:Current data suggest that patients with non-small cell lung

cancer with mutations in the tyrosine kinase domain (exons

18-21) of EGFR may respond to EGFR tyrosine kinase inhibitor

therapies. Thus, the absence of an EGFR mutation within

this tumor specimen suggests that these therapies may have

limited therapeutic value for this patient.

The predictive value of EGFR testing applies to EGFR

tyrosine kinase inhibitor therapies, not to other

therapeutic agents.

This result does not rule out the presence of a mutation

that may be present but below the limits of detection for

this assay (approximately 5%) or an EGFR mutation that is

not part of this panel. It is estimated that this panel

detects greater than 95% of pathogenic mutations (exons

18-21) associated with response/resistance to EGFR-targeted

therapies.