HL7 FHIR® Implementation Guide: Breast Cancer Data, Release 1 - US Realm (Draft for Comment)

This page is part of the Breast Cancer Data Logical Models and FHIR Profiles (v0.1.0: STU 1 Draft) based on FHIR R3. . For a full list of available versions, see the Directory of published versions

Primary profiles defined as part of this Implementation Guide

Name Based On Definition
BreastCancerHistologicGrade Observation The Elston Grade/Nottingham Score, representative of the aggressive potential of the tumor. Well differentiated cells (Grade 1) look similar to normal cells and are usually slow growing, while poorly differentiated cells (Grade 3) look very different than normal and are fast-growing.
BreastCancerPresenceStatement Condition Diagnosis of cancer originating in the tissues of the breast, and potentially spread to other organs of the body. The BreastCancerPresenceStatement is a subclass of ConditionPresenceStatement, which is a departure from CIMI. In CIMI, this would be a archetype of ClinicalStatement combining a BreastCancerConditionTopic with the ConditionPresenceContext. This would require definition of BreastCancerConditionTopic in the reference model, follwed by introduction of constraints on Value, Category, Stage, and MorphologyBehavior in the corresponding archetype. CIMI Alignment (and question for reviewers): The Topic of this statement is 'Neoplasm of the breast', not 'Assertion', with the logic that the topic of the statement is more specific than 'Assertion'. The result (the value) gives the particular type (histologic type) of the condition. Does this make sense?
BreastCancerStage Observation The stage of a breast cancer. Different staging systems use different staging groups, so there are currently no terminology bindings associated with this class.
BreastSite BodySite A body site specific to the breast structure.
BreastSpecimen Specimen Specimen resulting from biopsy or excision of breast and surrounding tissue.
DCISNuclearGrade Observation An evaluation of the size and shape of the nucleus in tumor cells and the percentage of tumor cells that are in the process of dividing or growing. Cancers with low nuclear grade grow and spread less quickly than cancers with high nuclear grade.
EstrogenReceptorStatus Observation Estrogen receptor alpha is the predominant estrogen receptor expressed in breast tissue and is overexpressed in around 50% of breast carcinomas. ER status (positive=present or overexpressed; negative=absent) is a factor in determining prognosis and treatment options. We are seeking feedback if it is better to put the positive/negative status in Value or Interpretation. The current approach is that positive/negative designation is a value, even though that value is (in fact) an interpretation of evidence (NuclearPositivity and AverageStainingIntensity).
HER2ReceptorStatus Observation HER2 receptor status. HER2 is a member of the human epidermal growth factor receptor family of proteins and is encoded by the ERBB2 oncogene. HER2 is overexpressed in 20-30% of breast tumors,10 and is associated with an aggressive clinical course and poor prognosis. HER2 status (positive=present or overexpressed; negative=absent) is a factor in determining prognosis and treatment options. We are seeking feedback if it is better to put the positive/negative status in Value or Interpretation. The current approach is that positive/negative designation is a value, even though that value is (in fact) an interpretation of evidence from HER2 by IHC and/or HER2 by ISH tests, not a direct observation.
HER2byIHC Observation HER2 receptor status as determined by Immunohistochemistry (IHC).
HER2byISH Observation HER2 receptor status as determined by In Situ Hybridization (ISH).
MammaprintRecurrenceScore Observation Breast cancer genomic signature assay for 10-year risk of distant recurrence score calculated by Mammaprint. In the United States, MammaPrint can only be used on cancers that are stage I or stage II, invasive, smaller than 5 centimeters, and estrogen-receptor-positive or -negative. Scores range from -1.0 to +1.0, with scores less than 0 indicating high risk, and scores greater than 0 indicating low risk. The is currently no LOINC code for Mammaprint test.
OncotypeDxDCISRecurrenceScore Observation The Oncotype DX test for DCIS (Ductal Carcinoma in Situ) breast cancer. Risk scores range from 0 to 100 with the following interpretations: 0-38: Low-Risk, 39-54: Intermediate-Risk, 55+: High-Risk. No LOINC code currently exists for this test. We are seeking feedback on the value of separating OncotypeDx scores for DCIS and invasive breast carcinomas. Does it make more sense to report the OncotypeDx as a single score, regardless of the type of cancer?
OncotypeDxInvasiveRecurrenceScore Observation The Oncotype DX test for invasive breast cancer examines the activity of 21 genes in a patient’s breast tumor tissue to provide personalized information for tailoring treatment based on the biology of their individual disease. The value from 0 to 100 indicates the estimated risk of recurrence, with the highest risk indicated by a score greater than 31. No LOINC code currently exists for this test. We are seeking feedback on the value of separating OncotypeDx scores for DCIS and invasive breast carcinomas. Does it make more sense to report the OncotypeDx as a single score, regardless of the type of cancer?
ProgesteroneReceptorStatus Observation Progesterone receptor status is a factor in determining prognosis and treatment options. The value is the percentage of cells that test (stain) positive for the presence of a receptor. The interpretation of positive or negative (found in the interpretation property) is based on the staining percentage, and may take into account the staining intensity. Based on discussion with Cancer Interoperability Group subject matter experts, there was insufficient rationale to include the following components in the data model: StainingControl, PrimaryAntibody, Allred Score (both total and component scores). We are seeking feedback on whether or not those components should be included in this model. We are seeking feedback if it is better to put the positive/negative status in Value or Interpretation. The current approach is that positive/negative designation is a value, even though that value is (in fact) an interpretation of evidence (NuclearPositivity and AverageStainingIntensity).
ProsignaRecurrenceScore Observation Breast cancer genomic signature assay for 10-year risk of distant recurrence score calculated by Prosigna. The Prosigna Score is reported on a 0 -100 scale (referred to as ROR Score or Risk of Recurrence Score in the literature), which is correlated with the probability of distant recurrence at ten years for post-menopausal women with hormone receptor positive, early stage breast cancer.

Supporting profiles defined as part of this Implementation Guide

Name Based On Definition
AnatomicalLocation BodySite A location or structure in the body, including tissues, regions, cavities, and spaces; for example, right elbow, or left ventricle of the heart. CIMI Alignment: In CIMI V0.0.4, AnatomicalLocation has no parent class. This appears to have been an oversight, and the parent should have been Entity, as modeled here.
ConditionPresenceStatement Condition A condition that is or may be present in a subject. 'Condition' is interpreted broadly and could be a disorder, abnormality, problem, injury, complaint, functionality, illness, disease, ailment, sickness, affliction, upset, difficulty, disorder, symptom, worry, or trouble. In CIMI terms, it is an archetype of ClinicalStatement that combines a ConditionTopic with the ConditionPresenceContext context. The core attributes of ClinicalStatement are not included here because of mapping difficulties to FHIR DomainResource.
EvaluationResultRecorded Observation Represents the result of evaluations (measurements, tests, or questions) that have been performed. EvaluationResultRecorded has a value representing the result (answer), or an ExceptionValue indicating why the value is not present. The subject of a finding can be the entire patient, or an entity such as a location body structure, intervention, or condition. Things observed about the subject can include social and behavioral factors, subjective and objective observations, and assessments.
LaboratoryTestResultRecorded Observation Measurement resulting from a laboratory analysis. The category is fixed to 'laboratory' to align with US-Core.
PercentageRange Range A range of percentage values.
Range Range An interval defined by a quantitative upper and/or lower bound. One of the two bounds must be specified, and the lower bound must be less than the upper bound. When Quantities are specified, the units of measure must be the same.
Ratio Ratio A unit of measurement for the quotient of the amount of one entity to another.
SimplifiedLaboratoryTestResultRecorded Observation The usual case for a test result from a pathology lab, based on a specimen taken from a patient. Note that the body site is not explicit here; it is part of the specimen resource associated with the lab result.
Specimen Specimen A specimen is a substance, physical object, or collection of objects, that the laboratory considers a single discrete, uniquely identified unit that is the subject of one or more steps in the laboratory workflow. A specimen may include multiple physical pieces as long as they are considered a single unit within the laboratory workflow. A specimen results from one to many specimen collection procedures, and may be contained in multiple specimen containers. Specimen may have one or more processing activities. CIMI Alignment: This class has been cut down to parts relevant to the current oncology ballot. The attribute parentSpecimenIdentifier has been changed from an Identifier to a reference to a Specimen, to make it possible to map to FHIR.