International Health Terminology Standards Development Organization IHTSDO International

International Health Terminology Standards Development Organization (IHTSDO) International Pathology and Laboratory Management Special Interest Group (IPALM SIG) Copenhagen, April 28 2010 Raj Dash, Chair

Agenda • Welcome and Introductions – Brief history of IPa. LM WG – Communications with other organizations • Strategic Directions – Focus on molecular pathology and genomic content • Definition of “molecular” pathology – Identification of subject matter and scope – Identification of related terminology beyond SCT • Methodology for evaluation of current content in SCT • Methodology for evaluation of current content in other terminologies – Methodology for evaluation of current content in other terminology • Work plan for the next year – Milestones and timeline – Metrics for success

Welcome & Introductions • Honored Guests – Dr. Gamze Kuzey, President Elect of WASPa. LM, Past President of Association of Pathology Ankara, Turkish Medical Association – Dr. Arvydas Laurinavičius , National Centre of Pathology and Vilnius University, Vilnius, Lithuania and representative of Lithuania on the Management Board – Dr. Alexis Carter, molecular pathologist and Director of Pathology Informatics, Emory University School of Medicine

History of the IPALM SIG • Pathology development - SNOP to SNOMED II, SNOMED III, SNOMED RT to now SNOMED CT – Pathology microglossary • IPALM SIG Formation Fall 2007 • IPALM SIG Follow Up Meeting Fall 2008 • 2009 – reorganization of support infrastructure • 2010 – reinitiation of IPALM SIG under new organizational structure

IPALM SIG • WASPa. LM has taken a leadership role in fostering international participation in the ongoing development of a pathology and laboratory medicine reference terminology. – There are notable gaps in the burgeoning field of molecular pathology and genomics that must be addressed.

IPALM SIG • WASPa. LM polls constituent society members to provide financial support for the chair and vicechair positions of the IPALM SIG. – The member society may be required to fund travel to IHTSDO meetings for the chair at least twice a year and fund two interim teleconferences. – The member society will be required to provide administrative support for the chair, to include funding of the travel of that assistant to the IPALM SIG meetings.

IPALM SIG • The same or different consituent society members may commit to support the chair and/or vice-chair position. • The constituent society member may stipulate selection of the individual(s) whom they will support. • The call for support from constituent society members will occur one year in advance of the completion of the term of the individual members on the IPa. LM SIG and will be open to all constituent society members. • If more than one constituent society member advocates support for chair or vice-chair, selection will be based primarily on review of the qualifications of the individual nominated for support. Final selection will be the purview of the WASPa. LM Bureau.

CAP DIHIT & PHC Initiatives • The College of American Pathologists (CAP) envisions the role of the pathologist in personalized healthcare as important. • The CAP sees the fostering of certain activities as critical infrastructure development for supporting pathologists in their transforming roles. • More specifically, CAP would like to have gaps in SNOMED CT content related to personalized healthcare addressed.

Other Organizations • CAP (College of American Pathologists) – resource committees • WHO (World Health Organization) • HL 7 • IHE (Integrating the Healthcare Enterprise) • COST (European Cooperation in Science and Technology) • IAP/USCAP (International Academy of Pathology/US and Canadian Academy of Pathology) • IFCC (International Federation of Clinical Chemistry and Laboratory Medicine) • AMP (Association for Molecular Pathology)

WHO • It is envisaged that there will be three distinct versions of the new ICD-11: a succinct version for use in primary care, a detailed version for use in speciality settings and an advanced version for use in research. • WHO has established various Topic Advisory Groups to serve as the planning and coordinating advisory body in the update and revision process for specific issues. A Revision Steering Group oversees the overall revision process. An internet-based workspace will document systematic reviews that obtain evidence from analysis of available data. • WHO collaborates through this platform with all interested parties. Working groups that are organized by the Topic Advisory groups review the proposals

WHO ICD-11 • • • • The WHO is currently preparing a new version of the International >Classification of Diseases, the 11 th Revision (ICD-11). As for the >previous revisions, the International Agency for Research on Cancer >(IARC) has been designated as the technical agency with respect to the >section on neoplasms. The Director of IARC, Dr Chris Wild, has asked Dr >D. Maxwell Parkin to chair the Topic Advisory Group (TAG) for >neoplasms. IARC will be responsible for provision of the secretariat, >and the expenses related to the travel of the Group. >The TAGs responsibility will be to advise WHO on the structure, >contents and definitions of the entries in the Neoplasms section of the ICD. > >I would like to constitute this group in the next few weeks, and >would like to include someone who can be responsible for the link >with SNOMED. Could you kindly suggest who would be the most >appropriate person?

IHE/HL 7 AP • From: Christel Daniel [mailto: christel. daniel@crc. jussieu. fr] Sent: 2010 m. balandžio 26 d. 14: 36 To: Marcial García Rojo; Thomas. Schrader@computer. org; vincenzo. dellamea@dimi. uniud. it; Arvydas Laurinavičius; vytenis. punys@ktu. lt Cc: Marie-Christine Jaulent; Kennedy, Mary; david. booker@claripath. com; victorbrodsky@gmail. com; francois. macary@sante. gouv. fr Subject: SNOMED CT codes for Anatomic Pathology Structured Reports • We definitively need to use more SNOMED CT (and/or SNOMED v 3. 5 in France) to encode Anatomic Pathology information in the standards that we are working on. • As an example of some needs, please find enclosed an excel file with a list of terms (specimen, procedure and histologic types) for which we will soon need SNOMED CT codes for the IHE Anatomic Pathology Structured Report content profile. • It will be great if you could investigate for the best method to link IHE/HL 7 Anatomic Pathology and the SNOMED IHTSDO working group in the same domain (AP) (if there is such a working group? ). Establishing this link could also be one of the objective of the joint meetings with IHTSDO (and the presence of Kent Spackman) in Vilnius in June.

IPALM SIG Strategic Directions • Mission Statement

IPALM SIG Strategic Directions • Supporting Personalized Healthcare • Per CAP: The concept of personalized healthcare relies heavily on genotypic (laboratory-derived) information as part of the electronic health record (EHR) to be correlated to a patient’s family history, clinically relevant information, outcomes, exposures, etc. Laboratory testing already provides key health information that may influence as much as 60 to 70 percent of health care decision-making and is likely to increase in importance. For that reason, it is crucial that pathologists, as directors of medical laboratories, be involved in almost every group that is engaged in standard setting for this initiative.

IPALM SIG Strategic Directions • Definition and Scope of Genomics/Molecular Pathology as it relates to IPALM SIG work effort for the next year?

IPALM SIG Strategic Directions • Characterizing the problem(s) – Gap analysis • Domains of expertise required • Size

IPALM SIG Strategic Directions • Identify other organizations that have/are working in this problem space – Cerner CBO (https: //www. clinbioinformatics. org/cbopublic/) – GO (http: //www. geneontology. org/) – NIH National Center for Biomedical Ontology, NCBO (http: //www. bioontology. org/) – NCI ca. BIG ca. DSR/CDE and NCI metathesaurus – The American Medical Association has formed a molecular pathology workgroup to issue recommendations for modernizing the reimbursement codes for molecular diagnostic and genetic tests, and is planning to implement a new coding structure in the next two years, according to industry observers knowledgeable of the process.

IPALM SIG Strategic Directions • Identifying a solution • Working with other organizations – RFI? • Working on our own – Top down • Identify the major high level concepts and flush out details from there – Bottom up • Capture details in current work environments and create an organizational hierarchy on top of the low level elements

IPALM SIG Strategic Directions • Explore available tools – Cliniclue Browser – IHTSDO Workbench – OWL, Protégé, RDF, Lexgrid – Raw database computations (SQL) – One off custom applications, perhaps site specific but could be repurposed • MAW 3® at Duke University Medical Center

IPALM SIG Strategic Directions • Personnel Effort – How to distribute – How to scale

Workplan for 2010 • Milestones • Timeline

Workplan 2010 • Metrics for Assessing Progress

Acknowledgements • Thanks to all participants – please sign in • Special thanks to WASPa. LM and the CAP for sponsoring this activity • Final thanks to Mary Kennedy for organizing our group over the coming year(s)