Consolidated Health Informatics

Standards Adoption Recommendation

Genes and Proteins

**[Index]{.underline}**

1.  **Part I -- Sub-team & Domain Scope Identification** -- basic
    information defining the team and the scope of its investigation.

2.  **Part II -- Standards Adoption Recommendation** -- team-based
    advice on standard(s) to adopt.

3.  **Part III -- Adoption & Deployment Information** -- supporting
    information gathered to assist with deployment of the standard (may
    be partial).

####### Summary

Domain: Genes and Proteins

**Standards Adoption Recommendation:**

Human Gene Nomenclature (HUGN) for genes. None for proteins.

SCOPE

To allow the federal health care sector to exchange information
regarding the role of genes in biomedical research and healthcare, using
a single unambiguous genetic nomenclature.

**RECOMMENDATION**

Human Gene Nomenclature (HUGN) sponsored by the Human Genome
Organization (HUGO). No recommendation for Protein Nomenclature.

## OWNERSHIP

HUGO is a non-profit body that is jointly funded by the UK Medical
Research Council (40%) and the US National Institutes of Health,
contract N01-LM-9-3533 (60%). 

##### APPROVALS AND ACCREDITATIONS

##### -NA-

##### 

# ACQUISITION AND COST

HUGN is free for nonprofit use, but requires a license for commercial
use (see
<http://www.gene.ucl.ac.uk/nomenclature/information/commercial.html> )

####### Part I -- Team & Domain Scope Identification

**[Target Vocabulary Domain]{.underline}**

+-----------------------------------------------------------------------+
| ***Common name used to describe the clinical/medical domain or        |
| messaging standard requirement that has been examined**.*             |
|                                                                       |
| Genes and Proteins                                                    |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| ***Describe the specific purpose/primary use of this standard in the  |
| federal health care sector (100 words or less**)*                     |
|                                                                       |
| To allow the federal health care sector to exchange information       |
| regarding the role of genes in biomedical research and healthcare,    |
| using a single unambiguous genetic nomenclature. This information     |
| would be used to support the federal health care sector in a wide     |
| variety of emerging sectors such as pharmacogenomics, genomic         |
| medicine, genomic applications of clinical trials, early detection of |
| malignancies, as well as a wide variety of uses in infectious disease |
| such as epidemiology and disease surveillance. As an initial step it  |
| is necessary that a genetic nomenclature be adopted that allows the   |
| unambiguous assignment of a gene so that this can be correlated to    |
| other relevant information including the genes localization. The work |
| group researched the current status of protein nomenclatures, and     |
| determined that none were sufficiently mature to warrant adoption at  |
| this time. Finally the work group researched the status of            |
| vocabularies that might bridge genomics with the sub-domains of       |
| Inherited Genetic Variation, Acquired Genetic Changes, and Infectious |
| Disease. Again no vocabularies were found that were sufficiently      |
| mature to warrant adoption at this time, however the work group has   |
| determined that a focused effort to study the adequacy of other CHI   |
| endorsed vocabularies and see if new ones need be developed would     |
| greatly accelerate progress in this field. Additional recommendations |
| may be found in the GAPS section.                                     |
+-----------------------------------------------------------------------+

**[Scope]{.underline}**

*(Content: Brief description of domain definition to include what is
considered in scope and what is considered out of scope. Rationale and
issues that were identified by team will be included.)*

+--------------------------------------------------+-------------------+
| > **Domain/Sub-domain**                          | > **In-Scope      |
|                                                  | > (Y/N)**         |
+--------------------------------------------------+-------------------+
| > Inherited Genetic Variation (e.g. Genetic      | > Y               |
| > disease, Pharmacogenomics, Disease             |                   |
| > susceptibility traits)                         |                   |
+--------------------------------------------------+-------------------+
| > Acquired Genetic Changes (e.g. Cancer)         | > Y               |
+--------------------------------------------------+-------------------+
| > Infectious Disease: Genes/Proteins involved in | > Y               |
| > pathogenesis, drug resistance, or              |                   |
| > identification                                 |                   |
+--------------------------------------------------+-------------------+
| > Protein Nomenclature                           | > Y               |
+--------------------------------------------------+-------------------+
| > Gene Nomenclature                              | > Y               |
+--------------------------------------------------+-------------------+

**[Information Exchange Requirements (IERs)]{.underline}** *Using the
table at appendix A, list the IERs involved when using this vocabulary.*

  -----------------------------------------------------------------------
  Customer Health Care Information

  Care Management Information

  Customer Risk Factors

  Case Management Information

  Body of Health Services Knowledge

  Clinical Guidelines

  Population Member Health Data
  -----------------------------------------------------------------------

**[Team Members]{.underline}** *Team members' names and agency names
with phone numbers.*

  ----------------------------------------------- -----------------------
  Name                                            Agency/Department

  **James Sorace MD MS (Team Lead)**              CMS

  Frank Hartel                                    NCI

  Sue Dubman                                      NCI

  John Leighton Ph.D.                             FDA

  Donna Maglott                                   NCBI

  Nancy Orvis                                     DoD

  Tim Overman                                     VA

  Jean Jenkins                                    NIH
  ----------------------------------------------- -----------------------

**[Work Period]{.underline}** *Dates work began/ended.*

  ----------------------------------- -----------------------------------
  Start                               End

  9/12/03                             11/19/03
  ----------------------------------- -----------------------------------

**Part II -- Standards Adoption Recommendation**

##### Recommendation *Identify the solution recommended.*

  -----------------------------------------------------------------------
  Human Gene Nomenclature (HUGN) sponsored by the Human Genome
  Organization (HUGO).

  -----------------------------------------------------------------------

**[Ownership Structure]{.underline}** Describe who "owns" the standard,
how it is managed and controlled.

  -----------------------------------------------------------------------
  HUGO is a non-profit body that is jointly funded by the UK Medical
  Research Council (40%) and the US National Institutes of Health,
  contract N01-LM-9-3533 (60%).  It operates through the Chair and a
  small UK team of professional staff, with key policy advice from an
  [International Advisory
  Committee](http://www.gene.ucl.ac.uk/nomenclature/IAC.shtml) (IAC) as
  well as a team of [specialist
  advisors](http://www.gene.ucl.ac.uk/nomenclature/advisors.html) who
  provide support on specific gene family nomenclature issues. HUGO
  maintains and develops the Human Gene Nomenclature (HUGN) that
  currently has approved symbols for over 17,000 genes, approximately one
  half of the anticipated total of human genes.  Individual new symbols
  are requested by scientists, journals (e.g.
  [Genomics](http://www.academicpress.com/genomics), [Nature
  Genetics](http://genetics.nature.com/) and [Cytogenetics and Cell
  Genetics](http://www.karger.ch/journals/ccg/ccg_jh.htm)) and databases
  (e.g. [RefSeq](http://www.ncbi.nlm.nih.gov/LocusLink/refseq.html),
  [OMIM](http://www3.ncbi.nlm.nih.gov/Omim/),
  [GDB](http://gdbwww.gdb.org/gdb/),
  [MGD](http://www.informatics.jax.org/) and
  [LocusLink](http://www.ncbi.nlm.nih.gov/LocusLink/)), and groups of new
  symbols by those working on gene families, chromosome segments or whole
  chromosomes.  As the human genome sequence analysis nears completion
  there is an increasing demand for the rapid approval of gene symbols. 
  However, in all cases considerable efforts are made to use a symbol
  acceptable to workers in the field. HUGO holds regular nomenclature
  workshops, sometimes in conjunction with larger meetings e.g. American
  Society of Human Genetics (ASHG) and Human Genome Meeting (HGM). This
  ensures that names are determined in line with the needs of the
  scientific community. For details of previous and future workshops see
  <http://www.gene.ucl.ac.uk/nomenclature/workshops.html>. HUGN is free
  for nonprofit use, but requires a license for commercial use (see
  <http://www.gene.ucl.ac.uk/nomenclature/information/commercial.html> ).

  -----------------------------------------------------------------------

##### Summary Basis for Recommendation *Summarize the team's basis for making the recommendation (300 words or less).*

+-----------------------------------------------------------------------+
| HUGN is a recognized standard for human gene nomenclature that has a  |
| systematic process for establishing genetic nomenclature. It contains |
| names for approximately one half of the expected number of protein    |
| coding human genes\* using established criteria (see                  |
| <http://www.gene.ucl.ac.uk/nomenclature/guidelines.html>). HUGO has   |
| also approached issues regarding non-structural genes. The federal    |
| government already extensively utilizes HUGN. For example LocusLink   |
| an NCBI resource supports the HUGN as well as Online Mendelian        |
| Inheritance in Man (also supported by NIH funding). Thus it is the    |
| *de facto* standard for human genomic nomenclature. HUGO works        |
| closely with a wide variety of scientific organizations including     |
| publishers to assure that its nomenclature is consistently updated.   |
| For example, authors may request the assignment of new gene symbol    |
| prior to the publication of a manuscript, thus assisting in the       |
| establishment of a consistent non-redundant nomenclature. Further,    |
| the cross linking of the HUGN with the annotation efforts of NCBI     |
| assures that physicians, and scientist can obtain updated information |
| regarding genes, their sequences, and their map positions as well as  |
| efforts to map known human genetic variations such as Single          |
| Nucleotide Polymorphisms (SNPs). This degree of integration with      |
| other genomic resources for human is a primary and unique function of |
| the HUGO Gene Nomenclature Committee (HGNC).                          |
|                                                                       |
| \*Traditionally genes have been defined as stretches of DNA that are  |
| transcribed to RNA and then translated to proteins (thus protein      |
| coding). Recent scientific advances have also indicated that genes    |
| that are transcribed to RNA, but not subsequently translated to       |
| proteins, serve important biological functions. Even more recently,   |
| highly conserved DNA sequences (e.g. almost identical between humans  |
| and mice) with unknown but probably significant biological functions  |
| have been defined. Thus the HGNC will not be complete even when it    |
| achieves 100% coverage of the portion of genes that code for          |
| proteins.                                                             |
+-----------------------------------------------------------------------+

**[Conditional Recommendation]{.underline}** *If this is a conditional
recommendation, describe conditions upon which the recommendation is
predicated.*

  -----------------------------------------------------------------------
  There are no conditions.

  -----------------------------------------------------------------------

##### Approvals & Accreditations

*Indicate the status of various accreditations and approvals:*

+-----------------------------+---------------+------------+-----------+
| Approvals                   | Yes/Approved  | Applied    | Not       |
|                             |               |            | Approved  |
| &                           |               |            |           |
|                             |               |            |           |
| Accreditations              |               |            |           |
+-----------------------------+---------------+------------+-----------+
| Full SDO Ballot             |               |            |           |
+-----------------------------+---------------+------------+-----------+
| ANSI                        |               |            |           |
+-----------------------------+---------------+------------+-----------+

**[Options Considered]{.underline}** *Inventory solution options
considered and summarize the basis for not recommending the
alternative(s). SNOME-CT must be specifically discussed.*

  -----------------------------------------------------------------------
  SNOMED CT^®^ was given consideration, but SNOMED CT^®^ does not
  specifically address the naming of either genes or proteins in a
  systematic way. Further recommendations concerning SNOMED CT^®^ may be
  found in the gaps section.

  The Gene Ontology (GO) nomenclature was also considered as an
  alternative. However, this nomenclature is predominantly oriented
  towards cell biology, and lacks coverage of clinical disease states as
  well as actual gene names. It may be desirable to reconsider this GO in
  the context of cell physiology.
  -----------------------------------------------------------------------

**[Current Deployment]{.underline}**

  -----------------------------------------------------------------------
  HUGN is extensively deployed and it is the de facto standard for the
  scientific literature. For example NCBI uses HUGN, and only assigns an
  in house temporary name until an official one becomes available. As of
  11/7/03 17003 approved gene symbols have been entered in the HUGN
  database. HUGO is thus approximately halfway through the process of
  naming the know genes. HUGO is an international organization with
  headquarters in Britain. The HUGN currently contains approved symbols
  for over 17,000 genes, approximately one half of the anticipated total
  of human genes.  Individual new symbols are requested by
  scientists, journals (e.g.
  [Genomics](http://www.academicpress.com/genomics), [Nature
  Genetics](http://genetics.nature.com/) and [Cytogenetics and Cell
  Genetics](http://www.karger.ch/journals/ccg/ccg_jh.htm)) and databases
  (e.g. [RefSeq](http://www.ncbi.nlm.nih.gov/LocusLink/refseq.html),
  [OMIM](http://www3.ncbi.nlm.nih.gov/Omim/),
  [GDB](http://gdbwww.gdb.org/gdb/),
  [MGD](http://www.informatics.jax.org/) and
  [LocusLink](http://www.ncbi.nlm.nih.gov/LocusLink/)), and groups of new
  symbols by those working on gene families, chromosome segments or whole
  chromosomes. As the human genome sequence analysis nears completion
  there is an increasing demand for the rapid approval of gene symbols. 
  However, in all cases considerable efforts are made to use a symbol
  acceptable to workers in the field. HUGO holds regular nomenclature
  workshops, sometimes in conjunction with larger meetings e.g. American
  Society of Human Genetics (ASHG) and Human Genome Meeting (HGM).

  -----------------------------------------------------------------------

**Part III -- Adoption & Deployment Information**

*Provide all information gathered in the course of making the
recommendation that may assist with adoption of the standard in the
federal health care sector. This information will support the work of an
implementation team.*

**[Existing Need & Use Environment]{.underline}**

###### Measure the need for this standard and the extent of existing exchange among federal users. Provide information regarding federal departments and agencies use or non-use of this health information in paper or electronic form, summarize their primary reason for using the information, and indicate if they exchange the information internally or externally with other federal or non-federal entities.

Column A: Agency or Department Identity (name)

Column B: Use data in this domain today? (Y or N)

Column C: Is use of data a core mission requirement? (Y or N)

Column D: Exchange with others in federal sector now? (Y or N)

Column E: Currently exchange paper or electronic (P, E, B (both), N/Ap)

Column F: Name of paper/electronic vocabulary, if any (name)

Column G: Basis/purposes for data use (research, patient care, benefits)

  ----------------------- ------- ------- ------- ------- ----------------------- --------------
  **Department/Agency**   **B**   **C**   **D**   **E**   **F**                   **G**

  Department of Veterans                                                          
  Affairs                                                                         

  Department of Defense                                                           

  HHS Office of the                                                               
  Secretary                                                                       

  Administration for                                                              
  Children and Families                                                           
  (ACF)                                                                           

  Administration on Aging                                                         
  (AOA)                                                                           

  Agency for Healthcare                                                           
  Research and Quality                                                            
  (AHRQ)                                                                          

  Agency for Toxic                                                                
  Substances and Disease                                                          
  Registry (ATSDR)                                                                

  Centers for Disease                                                             
  Control and Prevention                                                          
  (CDC)                                                                           

  Centers for Medicare                                                            
  and Medicaid Services                                                           
  (CMS)                                                                           

  Food and Drug                                                                   
  Administration (FDA)                                                            

  Health Resources and                                                            
  Services Administration                                                         
  (HRSA)                                                                          

  Indian Health Service                                                           
  (IHS)                                                                           

  National Institutes of                                                          
  Health (NIH)                                                                    

  Substance Abuse and                                                             
  Mental Health Services                                                          
  Administration (SAMHSA)                                                         

  Social Security                                                                 
  Administration                                                                  

  Department of                                                                   
  Agriculture                                                                     

  State Department                                                                

  US Agency for                                                                   
  International                                                                   
  Development                                                                     

  Justice Department                                                              

  Treasury Department                                                             

  Department of Education                                                         

  General Services                                                                
  Administration                                                                  

  Environmental                                                                   
  Protection Agency                                                               

  Department of Housing &                                                         
  Urban Development                                                               

  Department of                                                                   
  Transportation                                                                  

  Homeland Security                                                               
  ----------------------- ------- ------- ------- ------- ----------------------- --------------

##### 

+-----------------------------------------------------------------------+
| **Number of Terms**                                                   |
|                                                                       |
| HUGN has approved symbols for over 17,000 genes, approximately one    |
| half of the anticipated total of human genes.  Individual new symbols |
| are requested by scientists, journals (e.g.                           |
| [Genomics](http://www.academicpress.com/genomics), [Nature            |
| Genetics](http://genetics.nature.com/) and [Cytogenetics and Cell     |
| Genetics](http://www.karger.ch/journals/ccg/ccg_jh.htm)) and          |
| databases (e.g.                                                       |
| [RefSeq](http://www.ncbi.nlm.nih.gov/LocusLink/refseq.html),          |
| [OMIM](http://www3.ncbi.nlm.nih.gov/Omim/),                           |
| [GDB](http://gdbwww.gdb.org/gdb/),                                    |
| [MGD](http://www.informatics.jax.org/) and                            |
| [LocusLink](http://www.ncbi.nlm.nih.gov/LocusLink/)), and groups of   |
| new symbols by those working on gene families, chromosome segments or |
| whole chromosomes.  As the human genome sequence analysis nears       |
| completion there is an increasing demand for the rapid approval of    |
| gene symbols.  However, in all cases considerable efforts are made to |
| use a symbol acceptable to workers in the field. HUGO holds regular   |
| nomenclature workshops, sometimes in conjunction with larger meetings |
| e.g. American Society of Human Genetics (ASHG) and Human Genome       |
| Meeting (HGM). Terms are updated daily, with the public FTP site      |
| updated twice a week.                                                 |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| ##### Range of Coverage                                               |
|                                                                       |
| HUGN is currently approximately at the 50 % mark in naming known      |
| protein coding genes. It is impossible to forecast exactly when this  |
| effort will be concluded. Further the definition of genes may be      |
| expanding to include other than the traditionally defined protein     |
| coding genes (e.g. RNA genes). Never the less the NCBI as well as the |
| general scientific community have accepted the standard. It is        |
| important to recognize that HUGN is a highly focused standard dealing |
| with the nomenclature of human genes. HUGO defines genes as:          |
|                                                                       |
| *A gene is a DNA segment that contributes to phenotype/function. In   |
| the absence of demonstrated function a gene may be characterized by   |
| sequence, transcription or homology*.                                 |
|                                                                       |
| Thus HUGO uses a deliberately vague set of criteria to define a gene, |
| however this definition is flexible enough to embrace evolving        |
| concepts. HUGN is not a nomenclature for annotating genes function or |
| cellular biology. These concepts are however beginning to be          |
| addressed by the Gene Ontology consortia (see below). Further HUGN    |
| does not cover clinical issues such as naming disease states or       |
| describing diseased phenotypes.                                       |
|                                                                       |
| The HUGN is limited to covering human gene sequences, and it dose not |
| provide a pathway for pathogen gene nomenclature. The committee       |
| recommends additional efforts in this area (see gaps below). Finally  |
| HUGN does not name proteins.                                          |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| ###### **                                                             |
| Acquisition:** How are the data sets/codes acquired and use licensed? |
|                                                                       |
| The HUGN is free via FTP for nonprofit uses. Commercial use requires  |
| a license.                                                            |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| ###### **Cost**                                                       |
|                                                                       |
| ###### The HUGN is free via FTP for nonprofit uses.                   |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| **Systems Requirements**                                              |
|                                                                       |
| There are no specific systems requirements                            |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| **Guidance:**                                                         |
|                                                                       |
| HUGO maintains the HUGN. HUGO runs a website that allows users to     |
| request a gene name, and responds to user questions*.*                |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| **Maintenance:**                                                      |
|                                                                       |
| HUGO holds regular nomenclature workshops, sometimes in conjunction   |
| with larger meetings e.g. American Society of Human Genetics (ASHG)   |
| and Human Genome Meeting (HGM). Terms are updated daily, with the     |
| public FTP site updated twice a week.                                 |
+-----------------------------------------------------------------------+

  -----------------------------------------------------------------------
  **Customization**: Not applicable

  -----------------------------------------------------------------------

+-----------------------------------------------------------------------+
| **Mapping Requirements:**                                             |
|                                                                       |
| The HUGN is mapped by NCBI to the physical map of the human genome.   |
+-----------------------------------------------------------------------+

**Compatibility**

Identify the extent of off-the-shelf conformity with other standards and
requirements:

+----------------------------------------+-------+---------+----------+
| ##                                     | ####  | #####   | Yes with |
| ###### Conformity with other Standards | ####  | ### No  | e        |
|                                        | Yes ( |         | xception |
|                                        | 100%) | ######  |          |
|                                        |       | ## (0%) |          |
+----------------------------------------+-------+---------+----------+
| NEDSS requirements                     |       |         |          |
+----------------------------------------+-------+---------+----------+
| HIPAA standards                        |       |         |          |
+----------------------------------------+-------+---------+----------+
| HL7 2.x                                |       |         |          |
+----------------------------------------+-------+---------+----------+

+-----------------------------------------------------------------------+
| **[Implementation Timeframe]{.underline}**                            |
|                                                                       |
| The HUGN is already widely used within the federal government, and is |
| readily accessible for further implementation*.*                      |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| **[Gaps]{.underline}**                                                |
|                                                                       |
| > While the HUGN represents a useful genetic nomenclature, it will    |
| > not address every vocabulary need in this field. In order to        |
| > analyze these needs in a systematic manner, the group has divided   |
| > genes and proteins into three domains: inherited phenotypes,        |
| > acquired genetic mutations, and infectious disease. Human disease   |
| > states are complex and may frequently involve more than one domain. |
| > Realizing that the genomic map and genome nomenclature is a         |
| > developing basic science standard that will be maintained by NCBI   |
| > and HUGO, we have focused on healthcare delivery and looked         |
| > backward towards translational and basic research rather than the   |
| > opposite approach. Further, genomic medicine will require the use   |
| > of many other vocabularies that CHI has studied. For example, it    |
| > may be more advantageous to expand a known list of diseases and     |
| > clinical conditions to include pharmacogenomic concepts related to  |
| > drug metabolism, rather than create a domain-specific vocabulary    |
| > *de novo*. Similarly expressing pharmacogenomic concepts would      |
| > require a vocabulary for medications. Thus the committee recommends |
| > a follow up effort during the next phase of the CHI initiative to   |
| > determine when existing vocabularies can be expanded to fill this   |
| > need (and if so how), or when additional vocabularies may need to   |
| > be developed. Further the committee strongly recommends that NLM    |
| > and NIH contractors (such as OMIM and GeneTest) be encouraged to    |
| > both participate in this process and required to implement these    |
| > vocabularies in a timely manner. The work group has concluded that  |
| > current efforts appear dispersed and that such follow on action is  |
| > critical if translational research is to occur in a timely manner.  |
| > With this background a brief summary of the three domains is        |
| > presented.                                                          |
| >                                                                     |
| > **Inherited Genetic Variation:** This is an extremely important     |
| > domain, and its clinical uses include genetic diseases as well as   |
| > pharmacogenomics etc. Currently there are several databases with a  |
| > substantial user base. Examples include OMIM, GeneTest and HUGE     |
| > Net. Issues identified in examining these data base efforts include |
| > content, vocabulary structure and ability to integrate other        |
| > standards. OMIM (operating out of Johns Hopkins University under    |
| > NLM/NIH contract) curates the literature and assigns an OMIM number |
| > to specific phenotypes. These OMIM numbers are then linked to a     |
| > name, a text review of the literature, and in collaboration with    |
| > the University of Washington, a gene test list that provides        |
| > information regarding laboratories running relevant assays. OMIM is |
| > widely referenced and is a featured link in many NIH related        |
| > websites. Its summaries are textual and do not use a structured     |
| > vocabulary. GeneTest allows users to determine were to find the     |
| > actual testing services for a genetic disease as well as additional |
| > information regarding the disease itself. HUGH Net is a CDC         |
| > initiative that consists of a database of disease susceptibility    |
| > genes. None of these three databases uses a formally structured     |
| > vocabulary. Examples for follow on activity in this field include   |
| > expanding LOINC^®^ codes when necessary to cover genetic test, the  |
| > use of SNOMED CT^®^ as a source for naming inherited genomic traits |
| > including diseases. A careful comparison of disease states and      |
| > genetic phenotypes found in OMIM/GeneTest with those available in   |
| > SNOMED CT^®^ and UMLS^®^ would be a substantive contribution on     |
| > this area. The GeneTest group has developed XML DTDs to better      |
| > structure the free text found in its database. Extending this       |
| > approach and integrating it with structured vocabularies when       |
| > feasible represents a very useful approach that should be           |
| > considered.                                                         |
| >                                                                     |
| > **Acquired Genetic Changes:** This area focuses on acquired genetic |
| > changes that are typically found in malignant disease. Unlike       |
| > genetic variation above, the group has not found a suitable         |
| > standard. The NCI Thesaurus is currently in limited use for such    |
| > purposes within NCI, but it is not ready for wider clinical use.    |
| > NCI is continuing development and refinement of the Thesaurus. In   |
| > time NCI expects that the Thesaurus will be a viable candidate      |
| > standard, and within 6 months expects to have a version of the NCI  |
| > Thesaurus in production that ought to be reviewed for adequacy as a |
| > CHI standard. Currently, there are relatively few acquired changes  |
| > that are known to be clinically significant. This is an area of     |
| > translational research, which may increase rapidly in clinical      |
| > importance.                                                         |
| >                                                                     |
| > **Infectious Disease**: The committee wishes to stress the          |
| > importance of a uniform taxonomy for viral, bacterial and other     |
| > pathogens. The current NCBI initiative should be evaluated          |
| > critically by other agencies especially the CDC with regards to its |
| > ability to support epidemiological and public health databases.     |
| > Example database that would benefit from such support in this field |
| > include PulseNet and [The Universal Virus Database                  |
| > ICTVdB](http://www.ncbi.nlm.nih.gov/ICTVdb/c3buch.lo.pdf). Beyond   |
| > taxonomy the use of controlled vocabularies to annotate a genes     |
| > role in pathogen detection, pathogenicity traits, or treatment      |
| > selection (i.e. resistance) would be very desirable. Again close    |
| > coordination between the various branches of the NIH as well as the |
| > CDC should be encouraged. Further, the committee was not able to    |
| > find an adequate standardized gene nomenclature for pathogens. This |
| > is not surprising given the range of organisms (viral through       |
| > malarial), and the dispersed nature of academic research. The       |
| > committee recommends that simple alternatives such as archiving     |
| > bacterial and viral genes in a database and assigning them a unique |
| > ID might represent a useful initial effort. The committee has       |
| > discussed these issues with the NIAID. There is general agreement   |
| > that these issues require timely action.                            |
| >                                                                     |
| > **Summary:** appropriately addressing the needs of this field is of |
| > immense importance in translational research.                       |
|                                                                       |
| 1)  Translational research would be greatly accelerated if            |
|     implementation of the HUGN standard were coupled with close       |
|     coordination with other CHI vocabularies. The NCI is working      |
|     actively in trying to bridge the gaps between basic and clinical  |
|     science in these fields, but similar efforts by other entities    |
|     appears uncoordinated.                                            |
|                                                                       |
| 2)  The field of infectious disease represents a very significant gap |
|     in current planning. More active coordination between government  |
|     agencies is necessary not only for translational research, but    |
|     also for disease surveillance and bio-defense. CDC input on these |
|     issues is of great importance, as is coordinating efforts with    |
|     NIAID as well as other institutes.                                |
|                                                                       |
| 3)  Genomic medicine will require the adoption of structured          |
|     vocabularies by content providers. Data standards should be       |
|     developed with the active participation of the content            |
|     providers/clinicians, with implementation mandated when possible  |
|     by the NIH/NLM.                                                   |
|                                                                       |
| 4)  Finally, in addition to the development of the standardized       |
|     vocabularies noted above, messaging standards such as HL7^®^ will |
|     need to incorporate genomic and proteomic content into their data |
|     models.                                                           |
+-----------------------------------------------------------------------+

+-----------------------------------------------------------------------+
| **Obstacles**                                                         |
|                                                                       |
| The success of the HUGN will require continued funding (from the NIH  |
| and the UK), and active management.                                   |
+-----------------------------------------------------------------------+

***[Appendix A]{.underline}***

**[Information Exchange Requirements (IERs)]{.underline}**

  ----------------------------------- -----------------------------------
  **Information Exchange              **Description of IER**
  Requirement**                       

  Beneficiary Financial / Demographic Beneficiary financial and
  Data                                demographic data used to support
                                      enrollment and eligibility into a
                                      Health Insurance Program.

  Beneficiary Inquiry Information     Information relating to the
                                      inquiries made by beneficiaries as
                                      they relate to their interaction
                                      with the health organization .

  Beneficiary Tracking Information    Information relating to the
                                      physical movement or potential
                                      movement of patients,
                                      beneficiaries, or active duty
                                      personnel due to changes in level
                                      of care or deployment, etc.

  Body of Health Services Knowledge   Federal, state, professional
                                      association, or local policies and
                                      guidance regarding health services
                                      or any other health care
                                      information accessible to health
                                      care providers through research,
                                      journals, medical texts, on-line
                                      health care data bases,
                                      consultations, and provider
                                      expertise. This may include: (1)
                                      utilization management standards
                                      that monitor health care services
                                      and resources used in the delivery
                                      of health care to a customer; (2)
                                      case management guidelines; (3)
                                      clinical protocols based on
                                      forensic requirements; (4) clinical
                                      pathway guidelines; (5) uniform
                                      patient placement criteria, which
                                      are used to determine the level of
                                      risk for a customer and the level
                                      of mental disorders (6) standards
                                      set by health care oversight bodies
                                      such as the Joint Commission for
                                      Accreditation of Health Care
                                      Organizations (JCAHO) and Health
                                      Plan Employer Data and Information
                                      Set (HEDIS); (7) credentialing
                                      criteria; (8) privacy act
                                      standards; (9) Freedom of
                                      Information Act guidelines; and
                                      (10) the estimated time needed to
                                      perform health care procedures and
                                      services.

  Care Management Information         Specific clinical information used
                                      to record and identify the
                                      stratification of Beneficiaries as
                                      they are assigned to varying levels
                                      of care.

  Case Management Information         Specific clinical information used
                                      to record and manage the
                                      occurrences of high-risk level
                                      assignments of patients in the
                                      health delivery organization..

  Clinical Guidelines                 Treatment, screening, and clinical
                                      management guidelines used by
                                      clinicians in the decision-making
                                      processes for providing care and
                                      treatment of the
                                      beneficiary/patient.

  Cost Accounting Information         All clinical and financial data
                                      collected for use in the
                                      calculation and assignment of costs
                                      in the health organization .

  Customer Approved Care Plan         The plan of care (or set of
                                      intervention options) mutually
                                      selected by the provider and the
                                      customer (or responsible person).

  Customer Demographic Data           Facts about the beneficiary
                                      population such as address, phone
                                      number, occupation, sex, age, race,
                                      mother\'s maiden name and SSN,
                                      father\'s name, and unit to which
                                      Service members are assigned

  Customer Health Care Information    All information about customer
                                      health data, customer care
                                      information, and customer
                                      demographic data, and customer
                                      insurance information. Selected
                                      information is provided to both
                                      external and internal customers
                                      contingent upon confidentiality
                                      restrictions. Information provided
                                      includes immunization
                                      certifications and reports, birth
                                      information, and customer medical
                                      and dental readiness status

  Customer Risk Factors               Factors in the environment or
                                      chemical, psychological,
                                      physiological, or genetic elements
                                      thought to predispose an individual
                                      to the development of a disease or
                                      injury. Includes occupational and
                                      lifestyle risk factors and risk of
                                      acquiring a disease due to travel
                                      to certain regions.

  Encounter (Administrative) Data     Administrative and Financial data
                                      that is collected on patients as
                                      they move through the healthcare
                                      continuum. This information is
                                      largely used for administrative and
                                      financial activities such as
                                      reporting and billing.

  Improvement Strategy                Approach for advancing or changing
                                      for the better the business rules
                                      or business functions of the health
                                      organization. Includes strategies
                                      for improving health organization
                                      employee performance (including
                                      training requirements), utilization
                                      management, workplace safety, and
                                      customer satisfaction.

  Labor Productivity Information      Financial and clinical (acuity,
                                      etc.) data used to calculate and
                                      measure labor productivity of the
                                      workforce supporting the health
                                      organization.

  health organization Direction       Goals, objectives, strategies,
                                      policies, plans, programs, and
                                      projects that control and direct
                                      health organization business
                                      function, including (1) direction
                                      derived from DoD policy and
                                      guidance and laws and regulations;
                                      and (2) health promotion programs.

  Patient Satisfaction Information    Survey data gathered from
                                      beneficiaries that receive services
                                      from providers that the health
                                      organization wishes to use to
                                      measure satisfaction.

  Patient Schedule                    Scheduled procedure type, location,
                                      and date of service information
                                      related to scheduled interactions
                                      with the patient.

  Population Member Health Data       Facts about the current and
                                      historical health conditions of the
                                      members of an organization.
                                      (Individuals\' health data are
                                      grouped by the employing
                                      organization, with the expectation
                                      that the organization\'s operations
                                      pose similar health risks to all
                                      the organization\'s members.)

  Population Risk Reduction Plan      Sets of actions proposed to an
                                      organization commander for his/her
                                      selection to reduce the effect of
                                      health risks on the organization\'s
                                      mission effectiveness and member
                                      health status. The proposed actions
                                      include: (1) resources required to
                                      carry out the actions, (2) expected
                                      mission impact, and (3) member\'s
                                      health status with and without the
                                      actions.

  Provider Demographics               Specific demographic information
                                      relating to both internal and
                                      external providers associated with
                                      the health organization including
                                      location, credentialing, services,
                                      ratings, etc.

  Provider Metrics                    Key indicators that are used to
                                      measure performance of providers
                                      (internal and external) associated
                                      with the health organization.

  Referral Information                Specific clinical and financial
                                      information necessary to refer
                                      beneficiaries to the appropriate
                                      services and level of care.

  Resource Availability               The accessibility of all people,
                                      equipment, supplies, facilities,
                                      and automated systems needed to
                                      execute business activities.

  Tailored Education Information      Approved TRICARE program education
                                      information / materials customized
                                      for distribution to existing
                                      beneficiaries to provide
                                      information on their selected
                                      health plan. Can also include risk
                                      factors, diseases, individual
                                      health care instructions, and
                                      driving instructions.
  ----------------------------------- -----------------------------------