HL7 Model Identifies Clinical Genomics Workflows, Use Cases
HL7’s Clinical Genomics Work Group has published an HL7 Domain Analysis Model (DAM) to identify common workflows and use cases to facilitate scalable and interoperable data standards for the breadth of clinical genomics scenarios.
The Domain Analysis Model (DAM), which has underdone a rigorous ISO/ANSI-compatible balloting process, covers a myriad of use cases, including emerging ones such as pre-implantation genetic diagnosis, whole-exome sequencing, RNA sequencing and proteomics.
The effort “builds on the DAM Clinical Sequencing work that is already being used to design precision medicine workflows at hospitals across the country,” said Gil Alterovitz, Ph.D., an HL7 Clinical Genomics Work Group co-chair, in a prepared statement. He also serves as a Harvard professor with the Computational Health Informatics Program/Boston Children’s Hospital.
The Clinical Sequencing DAM fueled the design of FHIR Genomics, the subset of HL7’s FHIR standard designed to communicate clinical genomic information. “By extending to broader domains, it can serve as a standard going forward to aid in the design of workflows, exchange formats as well as other areas,” Alterovitz added,
The document presents narrative context and workflow diagrams to guide readers through the stages of each use case and details steps involving the various stakeholders such as patients, health care providers, laboratories and geneticists. This contextual knowledge aids in the development and implementation of software designed to interpret and communicate the relevant results in a clinical computer system, especially a patient's electronic health record.
The HL7 Clinical Genomics Work Group developed several new applications and refinements in the Domain Analysis Model beyond its original scope of clinical sequencing. One notable addition is the analysis of the common workflows for pre-implantation genetic diagnosis (PGD). For those undergoing in-vitro fertilization, advanced pre-implantation genetic screening has become increasingly popular as it avoids the implantation of embryos carrying chromosomal aneuploidies, a common cause of birth defects. Implementers can follow the workflow diagram and see the context for each transfer of information, including the types of tests performed such as blastocyst biopsy and embryo vitrification.
As the clinical utility of proteomics (detecting, quantifying and characterizing proteins) and RNA-sequencing increases, the DAM also outlines clinical and laboratory workflows to capitalize on these emerging technologies.
HL7 notes that future challenges arise from uncertainty about the specific storage location of genomic data, such as a Genomics Archive and Computer/Communication System (GACS), as well as the structure of a patient’s genomic and other omics data for access on demand, both by clinicians and laboratories. Best practices in handling such considerations are being formulated within HL7 and include international input from across the spectrum of stakeholders. In parallel, the HL7 Clinical Genomics Work Group has been preparing an implementation guide for clinical genomics around many of these use cases, to be leveraged alongside the newly published HL7 FHIR Release 4 standard.
