# Presentation: 120630

## Intermountain Healthcare Clinical Genetics Institute Marc S. Williams MD, DirectorGrant M. Wood, Senior IT StrategistAHIC PHC WorkgroupMay 15, 2007

- HL7 Clinical Genomics Update

**The Locus **
**and its Alleles**

**Sequence**
**Variations**

**Expression**
**Data**

**Sequence**
**and**
**Proteomics**

**Clinical**
**Phenotypes**

**The GeneticLocus Model - Focal Areas:**

## Core Genomic Models

**Genome**
**Locus and non-locus data**

**GeneticLoci**
**A set of loci like haplotype, gene expression panel, **
**genetic testing battery, etc.**

**GeneticLocus**
**Locus, alleles, sequence, sequence variation**
**Expression, proteomics**

**ClinicalPhenotype**

**Clinical Genomics **
**Query**

**Genetic Testing**
**Order**

**Utility**

**Rolling out the V3 Lab model:**

**normative**

**normative**

**Draft**

**normative**

**Draft**

**Draft**

- Amnon Shabo, IBM Haifa Research Lab

## HL7 Clinical Genomics

-  Genotype models are designed to store genomic data in the EHR for use by clinical decision support applications.
-  Need to finalize GeneticLoci and GeneticLocus models for normative balloting.
-  To complete our vocabulary effort, we have discussed the use of NCI terms/codes. The NCI is working on a controlled vocabulary.
-  Does the four modules cover all genetic testing use cases? (gap analysis report)
-  Need to pilot the models in both clinical research and clinical practice environments, as well as testing messaging between reference labs and healthcare providers.
-  Need implementation by early adopters and collaborative partners to test the exchange of clinical genomic and family history data.
-  We want to work with healthcare information technology users to ensure that HL7 standards meet real-world requirements.

## Logical Observations Identifiers Names and Codes

-  LOINC was developed to provide a universal standard for identifying clinical information in electronic reports
-  The LOINC database provides a set of universal names and ID codes for identifying laboratory and clinical test results, including genetic tests
-  LOINC codes are intended to identify the test result or clinical observation
-  Codes work for both orders and observations
-  662 molecular/genetic codes created so far
-  LOINC code gets wrapped inside of a HL7 message

## For More Information

**From HPCGG RFI dated January 10, 2007 to DHHS AHIC PHC workgroup**

## HPCGG cite

- Response to the
**Department of Health and Human Services **
- Request for Information on
**Improving Health and Accelerating Personalized Health Care through Health Information Technology and Genomic Information in Population- and Community-based Health Care Delivery Systems**** **
*Submitted by *
*The Harvard Medical School-Partners HealthCare *
*Center for Genetics and Genomics (HPCGG) *
*On *
*January 10, 2007 *
*Document Version *
- 1.0
- Copyright 2007 – Harvard Medical School – Partners Healthcare Center for Genetics and Genomics – All rights Reserved
- Cite for previous slide

## For More Information

- Personalized Healthcare RFI written by Harvard-Partners Center for Genetics and Genomics _[http://www.hpcgg.org/News/HPCGG_RFI_Response_1_0.pdf](http://www.hpcgg.org/News/HPCGG_RFI_Response_1_0.pdf)_
- For the Genetic Locus, Genetic Loci, and Family History model walkthroughs and XML Schemas, go to _[http://hl7.org/Special/committees/clingenomics/docs.cfm](http://hl7.org/Special/committees/clingenomics/docs.cfm)_
- Send any further questions to Amnon Shabo, Co-Chair HL7 Clinical Genomics Special Interest Group, IBM Research Lab in HaifaE-mail: _[shabo@il.ibm.com](mailto:shabo@il.ibm.com)_
- Find HL7 website at _[www.hl7.org](http://www.hl7.org/)_
- Contact me at via e-mail at _[grant.wood@intermountainmail.org](mailto:grant.wood@intermountainmail.org)_