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Publication Request

Publication Request

1. Published Name of the Standard for which request is being made

CDA Implementation Guide for Genetic Testing Reports

2. Standards Material/Document

Informative

3. Date of Request

Sep 18, 2020

4. Use Period

5. Reason for extension, timeline, and actions

6. Original Publication Date

7. End date of the current STU period

8. Length of the requested extension

9. Review Process

10. HL7 Work Group making this request and date

Clinical Genomics

10a. Requesting WG Date

May 26, 2020

11. URL of approval minutes

https://confluence.hl7.org/display/CGW/CG-2020-05-26

12. HL7 Product Management Group

CDA Management Group

12a. Management Group Date of Approval

13. URL of approval minutes

14. Is the artifact ready for final publication?

Yes

15. If not ready, please describe remaining steps.

16. Tool name used to produce the machine processable artifacts in the IG

MS Word

17. The name of the “IG artifact” within the context of the above mentioned tool.

CDAR2_IG_GENTESTRPT_R1_I1_2018JAN

18. Balloted Name of the standard for which request is being made

HL7 CDA® R2 Implementation Guide: Genetic Testing Reports, Release 1

19. Requested name for published standard

HL7 CDA® R2 Implementation Guide: Genetic Testing Reports, Release 1

20. If CMET, list IDs balloted

21. Project Insight Number

460

22. Document Realm

Universal

23. Ballot cycle in which the document was successfully balloted

2018-Jan

24. Results of that ballot (following reconciliation activities):

24. Results of that ballot (following reconciliation activities):

(not needed for errata, STU extension, or unballoted STU update)

25. Affirmative

31

26. Negative

10

27. Abstentions

76

28. Not Returned

23

29. Total in ballot pool

140

30. Date on which final document/standards material was supplied to HQ

Jun 05, 2020

31. URL of publication material/ SVN repository

https://www.hl7.org/implement/standards/la.cfm?file=/documentcenter/public/standards/dstu/CDAR2_IG_GENTESTRPT_DSTU_R1_2013FEB.zip

32. Publishing Facilitator

Bob Milius

33. Special Publication Instructions

34. URL of ballot reconciliation document

http://www.hl7.org/documentcenter/public/ballots/2018JAN/reconciliation/recon_cdar2_ig_gentestrpt_r1_i1_2018jan.xls

35. Has the Work Group posted its consideration of all comments received in its reconciliation document on the ballot desktop?

Yes

36. Substantive Changes Since Last Ballot?

No

37. Product Brief Reviewed By

Clinical Genomics Work Group

38. Date Product Brief Reviewed

Oct 20, 2020

39. Has the Product Brief changed?

Product Brief

Product Brief

40. Family

CDA

41. Section

Implementation Guides

42. Topic

Clinical Genomics

43. Please Describe the Topic

44. Product Type

Implementation Guide

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

CDA GTR

49. Description

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.

Targets

Targets

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:

50. Stakeholders

Clinical and Public Health Laboratories, Standards Development Organizations (SDOs)

51. Vendors

EHR, PHR, Health Care IT, Clinical Decision Support Systems, Lab

52. Providers

Clinical and Public Health Laboratories Local and State Departments of Health Healthcare Institutions (hospitals, long term care, home care, mental health)

53. Benefits

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.