International Health Terminology Standards Development Organization IHTSDO International

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

Agenda • Welcome and Introductions – Brief history of IPa. LM SIG – 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 IPa. LM SIG • Pathology development - SNOP to SNOMED II, SNOMED III, SNOMED RT to now SNOMED CT – Pathology microglossary • IPa. LM SIG Formation Fall 2007 • IPa. LM SIG Follow Up Meeting Fall 2008 • 2009 – reorganization of support infrastructure • 2010 – re-initiation of IPa. LM SIG under new organizational structure

IPa. LM 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.

IPa. LM SIG • WASPa. LM polls constituent society members to provide financial support for the chair and vicechair positions of the IPa. LM 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 IPa. LM SIG meetings.

IPa. LM 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 specialty 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 Sent: 2010 m. balandžio 26 d. 14: 36 To: Marcial García Rojo; Thomas. Schrader; vincenzo. dellamea; Arvydas Laurinavičius; Cc: Marie-Christine Jaulent; Kennedy, Mary; david. booker; victorbrodsky; francois. macary 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.

IPa. LM SIG Strategic Directions • Mission Statement • Review Terms of Reference – Consensus after review indicated that TOR are acceptable as-is but the work plan and associated action items shall dictate specific agenda for the short term

IPa. LM 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.

IPa. LM SIG Strategic Directions • Scope as it relates to IPa. LM SIG work effort for the next year? • SCT Content Development • Evaluation of SCT Usability and Quality as it exists today • Translation to other languages • Interaction with other organizations

Work Plan 2010 New Content Development Topics • Molecular Pathology (Predictive Pathology – Diagnostics and Prognostics and Therapeutics) • WHO Histologies – E. g. hematopathology • AJCC – E. g. TNM staging, 7 th edition • Transplantation Pathology • Non-neoplastic Renal Pathology

Work Plan 2010 Evaluation of SCT Usability & Quality • Define “quality” as multidimensional property – Has different meaning in different applications (different use cases, e. g. clinical vs research, different users) – Content accuracy • Requires review by domain experts (USA – AMP vs CAP Molec Path), (National Laboratory Med Catalog Stakeholder Group – Ian Green), (ASHI, AST for transplantation) – Use of Content (Implementation) • Ask quality and content committee working group on quality metrics on guidance on how best to identify Pa. LM specific metrics • Prepare a RFI (request for information) to vendors to identify what vendors see as quality issues with existing SCT content in the field of Pa. LM

Work Plan 2010 Translation Activities • Lithuanian translation already in progress, ~3000 pathology concepts, future uncertain – Plan for 50 k terms, spanning all of SCT content • Danish translation, 1 st round completed (for all of SCT) by general translators (not specialists). Translations pending evaluation by specialists (open for review). • Swedish translation should be finalized summer 2010 working on active concepts. Qualification/validation pending (open for review) • Turkish translation initiated 10 yrs ago, current status unkown (will be investigated by Dr. Kuzey) • Use of SNOMED II translations to map to SCT? (e. g. Italian SNOMED II translation exists ~ 1992) • No IPa. LM SIG action items for 2010

Work Plan 2010 Interaction with Other Organizations • Generate letter expressing desire to collaborate along with communicating IPa. LM work plan for 2010 IHE/HL 7 WHO Royal College of Pathologists/UK CAP-Molec. Path/AMP (Dr. Carter) NAACR and IACR (Cancer Registries) Societies for PALM as well as those specific to Molecular Pathology and Transplantation Pathology – Action item: generate letter to be distributed via WASPa. LM and IAP to open channel of communication to the relevant international societies – Action item: identify individuals to recruit into the IPa. LM SIG work effort for 2010 (specifically related to focus in molecular pathology and/or transplantation pathology) – – –

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

IPa. LM 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.

IPa. LM SIG Strategic Directions • Identifying a solution • Working with other organizations – RFI? • IPa. LM action item: ask Technical committee for feedback on how IPa. LM SIG should approach mapping to an existing ontology (such as Gene Ontology), envisioned for those concepts that are deemed out of scope for SCT (but in the realm of IPa. LM, e. g. gene loci “map”)

Content Development • 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

Content Development • IPa. LM SIG DECISION: Both approaches are required • Top down – work with organizations that have enumerated high level categories and have effort drilling down to some extent • Bottom up – requires access to data (molec path data, path reports, lab reports, published literature etc) • Require tooling to support modeling • IHTSDO Collaborative Workbench not ready till 2011 – ACTION: ask Technical Committee if IPa. LM SIG could practically utilize current version of IHTSDO Workbench? • ACTION: IPa. LM SIG requests authorization from Chief Terminologist to submit terms for inclusion in SCT – anticipated request of 100 terms over 1 yrs focused in the areas of molecular pathology and transplantation pathology

Content Development • Request tooling gap analysis – Clini. Clue Browser (freely downloadable in IHTSDO member countries, free to use for limited time without license) – Mycroft browser (Apelon, free to use) – Potentially use Duke’s MAW 3 web based encoder if needed as interim to autocode large corpus • Requires some effort for making publically available – ACTION: Need documentation for IHTSDO members and non-IHTSDO member country volunteers to contribute to effort (step by step guide)

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

Time Line - Workplan for 2010 – – – – – All action items related to initial communications (8 weeks) Follow up communications (4 weeks) Making tools available and creating documentation for dissemination (1 st 8 weeks) Teleconference after 3 months to assess status and begin next phase (define work force and methodology for gap analysis – excel template or word template based on request submission template) Next 3 mos – preliminary gap analysis using tooling available, distributed among defined work force Teleconference to assess gap analysis work effort Next 3 mos – new content development October F 2 F (Toronto) to assess content development and plan Final submission of new content (up to 100 terms) at end of 1 yr, reassessment of prior year as per F 2 F discussion

Milestones – Quarter 1: • Communications submitted • Feedback distributed – Quarter 2: • workforce defined • Infrastructure established (tools, etc) – Quarter 3: • Gap analysis completed – Quarter 4: • Content development

Workplan 2010 • Metrics for Assessing Progress/Performance – Number of respondents to communication – Total number of missing and misclassified concepts identified – Number of “validated” gaps (i. e. second person double checking a missing or misclassified concept) – Number of submitted concepts accepted for inclusion (positive feedback etc) – End of year survey (Oct 2010 F 2 F action item to draft survey questions) – Evaluation of hitting date targets as specified in milestones/timeline

Acknowledgements • Thanks to all participants – Attendee List: • Raj Dash, MD(USA); Ulla Magdalpetersen (Denmark); Helle Johannessen (Denmark); Thomas Schrader, MD (Germany); Csaba Huszka, MD (Germany); Vincenzo della Mea, MD (Italy); Vytenis Punys (Lithuania); Arvydas Laurinavičius, MD (Lithuania); Mindauyan Butkus (Lithuania); Darius Raudeliunas (Lithuania); Daniel Karlsson (Sweden); Robert Breas (Netherlands); Ian Green (UK); Lotti Barlow (Sweden); Daniel Karlsson (Sweden); Gamze Kuzey, MD(Turkey); Georg Brox, MD (UK); Alexis Carter, MD (USA); Mike Smith, MD (USA); Kevin Donnelly (USA); Mary Kennedy (USA) • 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)