Submitted By: May Terry / MITRE Corporation | |
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Data Element Information | |
Rationale for Separate Consideration | USCDI Level 1 includes two elements in the Genomics class: Variant Data and Variant Interpretation. The intent of variant data was to standardize the nomenclature in the variant representation using a nomenclature such as the Human Genome Variation Society (HGVS) sequence variant nomenclature or the National Institute of Health (NIH) SPDI data model that describes variants as a sequence of four attributes: sequence, position, deletion, and insertion. Molecular Consequence differs from both of them in that they further qualify the features of a variant sequence. |
Use Case Description(s) | |
Use Case Description | Predicting the molecular consequence is an essential step for the interpretation of a genomic variant (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7613081/). It supports criteria needed to determine an indication for certain targeted therapies. For example, a patient with non-small cell lung cancer (NSCLC) with a molecular consequence of DNA rearrangement in the ALK gene is an indication for the targeted therapy drug loratinib (https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020874/). |
Estimate the breadth of applicability of the use case(s) for this data element | Molecular consequence data can be applied to characterize any variant and for different species. Its implications apply to the pathogenicity of many conditions in different clinical domains, including oncology, cardiology, and neurology. |
Link to use case project page | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9020874/ |
Use Case Description | The CodeX GenomeX domain data exchange and operations use cases aim to build standardized and scalable FHIR® genomics interfaces, therefore enabling appropriate data to be sent to EHRs or genomics repositories. GenomeX members include representatives from government, life sciences, industry, and health care provider organizations. The specific use case involves a genomics reference lab sending report results which include molecular variants and a molecular consequence code which further describes the type of variant change. |
Estimate the breadth of applicability of the use case(s) for this data element | There are at least two sets of stakeholder entities involved in the exchange of molecular consequence data: 1) genomics reference labs sending the results of next-gen sequencing (NGS) genomic reports, 2) providers who receive genomic reports for assessing the implications of variants for the purposes of diagnosis, treatment, and monitoring diseases of mutations, namely in oncology, neurology, and rare diseases. |
Link to use case project page | https://confluence.hl7.org/display/COD/Genomics+-+GenomeX |
ONC Priority |
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Maturity of Use and Technical Specifications for Data Element | |
Applicable Standard(s) | The Sequence Ontology is a collaborative ontology project for the definition of sequence features used in biological sequence annotation. http://www.sequenceontology.org |
Additional Specifications | The HL7 Genomics Reporting FHIR® IG v2.1.0 (STU2) http://build.fhir.org/ig/HL7/genomics-reporting/index.html Variant profile includes the data element for molecular-consequence. |
Current Use | (Level 0) Captured, stored, or accessed in limited settings such as a pilot or proof of concept demonstration |
Extent of exchange | (Level 0) Limited environments, such as connectathons or pilots |
Supporting Artifacts |
The Office of the National Coordinator (ONC) Sync for Genes Project was launched in 2017 and aims to standardize the sharing of genomic information among laboratories, providers, patients, and researchers. It has completed 5 phases of implementation to advance the development and use of industry-supported standards for the sharing and integration of genomic information in a consistent and usable way, such as via the Health Level 7 International® (HL7®) Fast Healthcare Interoperability Resources® (FHIR®) standard. A FHIR-based exchange of the molecular consequence data element was tested as a proof-of-concept prototype at the HL7 FHIR Connectathon 33 Clinical Genomics Track in May 2023 (https://confluence.hl7.org/display/FHIR/2023+-+05+Clinical+Genomics). https://www.healthit.gov/topic/sync-genes |
Potential Challenges | |
Restrictions on Standardization (e.g. proprietary code) | There are no restrictions on the standardization of this data element. All models and codes are available for public use. |
Restrictions on Use (e.g. licensing, user fees) | There are no restrictions on the use of this data element. |
Privacy and Security Concerns | There are no privacy and/or security concerns on the exchange of this element. |
Estimate of Overall Burden | There is moderate burden in sending molecular consequence as a structured and coded data because the sequence ontology is not widely adopted by genomics reference labs and consuming applications like EHRs. Regardless, standardizing this data could positively advance precision medicine since this data is referenced in clinical guidelines such as the NCCN and ASCO cancer guidelines as well as CAP synoptic reports in informing treatment options. |
Data Element |
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Molecular Consequence
Description
Molecular consequence is a calculation of the effect of the sequence change if the allele is in a gene (source: NCBI, https://www.ncbi.nlm.nih.gov/clinvar/docs/details/). |
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