35. Has the Work Group posted its consideration of all comments received in its reconciliation document on the ballot desktop?
36. Substantive Changes Since Last Ballot?
37. Product Brief Reviewed By
Clinical Genomics Work Group
38. Date Product Brief Reviewed
Oct 20, 2020
39. Has the Product Brief changed?
43. Please Describe the Topic
44. Product Type
45. Parent standard
46. Parent Standard Status
47. Update/replace standard
This is an Informative update balloted in Jan 2018 to the STU ballot in Jan 2013.
48. Common name/search keyword
Please note that this document reflects work done by the Clinical Genomics Work Group (CG WG) prior to the development of FHIR. It is considered a historical document that is published as an informative artifact, and is not an actively maintained product of the CG WG.
The purpose of this CDA R2 Implementation Guide is to specify a standard for genetic testing reports, targeted at both human readability and machine processability. Genetic tests have recently become an important tool in clinical care that further personalizes the care processes based on the patient individual genetic makeup. Genetic testing methods are diverse and span from testing for known germline mutations in the context of single-gene disorders, to full sequencing of genes in tumor tissues looking for somatic variations in cancer cells. The GTR is a Universal spec and covers a variety of use cases.
These are categories of potential users, implementers, or other interested parties such as those that are indicated on the Project Scope Statement under “Stakeholders/Vendors/Providers”. Select those that are applicable, or suggest others:
Clinical and Public Health Laboratories, Standards Development Organizations (SDOs)
EHR, PHR, Health Care IT, Clinical Decision Support Systems, Lab
Clinical and Public Health LaboratoriesLocal and State Departments of HealthHealthcare Institutions (hospitals, long term care, home care, mental health)
Creates a common foundation of communication between various stakeholders of patient-specific genetic data, first and foremost - genetic testing laboratories and healthcare information systems.
Enables both human readability of genetic tests reports and processability by clinical decision support applications.
Supports healthcare use cases but can also be used in clinical trials settings where results of subject-specific genetic tests can be conveyed.
54. Implementations/Case Studies
The following list is from 2013. However, no pilots or implementations have been confirmed since then.
IBM Research (uHealth / BlueMedics).
Intermountain Healthcare (internal piloting).
US National Marrow Donor Program (typing report exchange).
Valencia Polytechnic University & La Fe' Hospital in Spain (Adding genetic information to the EHR through conceptual models).
Translational Software (interface prototyping).
55. Development Background
Genetic tests have recently become an important tool in clinical care that further personalizes the care processes based on the patient individual genetic makeup. Genetic testing methods are diverse and span from testing for known germline mutations in the context of single-gene disorders, to full sequencing of genes in tumor tissues looking for somatic variations in cancer cells. We also see the emerging use of gene expression testing in clinical care and it is expected to see a growing use of research techniques adjusted to healthcare.
As a consequence of that diversity and the constantly growing number of techniques yielding new result formats less familiar to clinicians, we see existing report formats having emphasis on detailed but easy-to-understand interpretations of the testing results along with recommendations. These interpretations may originate from the laboratory or they may be created by a clinician specializing in genetic/genomic medicine. This work also supports, communication within the report itself, detailed information on the tests performed including references to the appropriate scientific studies and publications in a format that looks quite often like a short abstract in a scientific journal.
Within the clinical environment, genetic test results typically flow from the genetic testing laboratory into the electronic health record (EHR). From the EHR these results may flow into another EHR or a personal health record (PHR). In some realms the first transmission of this data (from the laboratory into the EHR) is performed using the Laboratory 2.5.1 message standard. Clinical Genomics has written an implementation guide which extends this standard for the support of clinical genetics (HL7 Version 2 Implementation Guide: Clinical Genomics; Fully LOINC-Qualified Genetic Variation Model, Release 1 (US Realm) ).
In some realms, the second transmission of this data (EHR to EHR/PHR) is performed using the CCD message model (a constrained version of the CDA model). As such for the healthcare specific message, this implementation guide will minimally detail how certain data sets defined in the above mentioned implementation guide would be included using the CDA model as appropriate to the level of granularity of this human-readable report.
Note: The producers of GTR documents include genetic laboratories as well as clinical geneticists or any clinician who needs to create a report summarizing genetic testing results (and is capable and authorized to do so). In addition, all roles in a research environment that needs to summarize genetic assays are included in the scope.