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WP 6.4 Genomics & colon cancer Inge Bernstein, HNPCC-register Henning Voss, FUNEN (MedCom)

WP 6.4 Genomics & colon cancer Inge Bernstein, HNPCC-register Henning Voss, FUNEN (MedCom). HNPCC-register. Today: Paper based. 4 genetic dept. 4 laboratories 50 surg.dept. >20 gyn.dept. Future requirements: Interoperability Communication Further IT-support

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WP 6.4 Genomics & colon cancer Inge Bernstein, HNPCC-register Henning Voss, FUNEN (MedCom)

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  1. WP 6.4 Genomics & colon cancer Inge Bernstein, HNPCC-register Henning Voss, FUNEN (MedCom)

  2. HNPCC-register Today: Paper based 4 genetic dept. 4 laboratories 50 surg.dept. >20 gyn.dept. Future requirements: Interoperability Communication Further IT-support Web-reporting of data

  3. Polyposis HOL-LAND SWE-DEN FIN-LAND HNPCCDENMARK GER-MANY Onco- genetic Genetic Diseases Mamma- Cancer National International

  4. Design of XML documents

  5. XML Schemas Implementation HL7 compliance HL7 standard ? Clinical content

  6. Three steps towards interoperability XML/HL7-Standards Reporting on web-client Interoperability via Web Services

  7. Clinical XML Family XML Lab-XML Lab-XML Patient database Clinical database (HNPCC) Clinical Departm. Patientdatabase Klinisk database (Mamma) Patientdatabase Klinisk database (Other) EHR Step one Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

  8. WEB- based data transfer Patient database Clinical database (HNPCC) Clinical Departm. Patientdatabase Klinisk database (Mamma) Patientdatabase Klinisk database (Other) Step two Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

  9. Clinical XML via WS Family XML via WS WEB- based data transfer Lab-XML via WS Lab-XML via WS Patient database Clinical database (HNPCC) Clinical Departm. Patientdatabase Klinisk database (Mamma) Patientdatabase Klinisk database (Other) EHR Step three Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

  10. Assessed by Custodix

  11. Web Service Provider Web Server Danish Health Data Network Vali-dation HNPCC DB Front end Web Page Client Web Service Client HTML Web Service Laboratory / Surgery Dep. / Genetic Dep. Not part of InfoBioMed

  12. Invited departments Genetic Department Surgical Department Århus Odense Vejle Hvidovre Århus Ålborg Laboratory Hvidovre Ålborg Odense Hvidovre Århus Herning Copenhagen

  13. Invited departments Genetic Department Surgical Department Århus Odense Vejle Århus Ålborg Hvidovre Laboratory Hvidovre Ålborg Hvidovre Odense Herning Århus Copenhagen 80% functioning IP-addresses

  14. Clinical example

  15. Colon cancer Other HNPCC cancer Healthy Dead At risk I:1 I:2 * Max Bergren * * II:1 II:2 II:3 II:4 * * * III:1 III:2 III:3 III:4 III:5 III:6

  16. Århus Vejle Odense Ålborg Århus Hvidovre Hvidovre Herning Ålborg Odense Århus Hvidovre Copenhagen Genetic Department Surgical Department Laboratory

  17. Max Bergren II:1 Odense Vejle Århus Ålborg Århus Hvidovre Hvidovre Odense Ålborg Århus Hvidovre Herning Copenhagen Genetic Department Surgical Department Laboratory

  18. Colon cancer Other HNPCC cancer Healthy Dead At risk I:1 I:2 * Max Bergren * * II:1 II:2 II:3 II:4 * * * * * III:6 III:1 III:2 III:3 III:4 III:5

  19. Colon cancer Other HNPCC cancer Healthy Dead At risk I:1 I:2 * * * II:1 II:2 II:3 II:4 * * * * * III:6 III:1 III:2 III:3 III:4 III:5

  20. Colon cancer Other HNPCC cancer Healthy Dead At risk I:1 I:2 * Max Bergren * * II:1 II:2 II:3 II:4 * * * * * III:6 III:1 III:2 III:3 III:4 III:5 Mutation detection

  21. Århus Vejle Odense Ålborg Århus Hvidovre Hvidovre Herning Ålborg Odense Århus Hvidovre Copenhagen Genetic Department Surgical Department Laboratory

  22. Århus Vejle Odense Hvidovre Århus Ålborg Hvidovre Ålborg Odense Århus Hvidovre Herning Copenhagen Genetic Department MLH1, exon4, c.350C>T, p.T117M Surgical Department Laboratory

  23. Clinical impact ????? • Diseasecard.org • Hereditary colon cancer

  24. Colon cancer Other HNPCC cancer Healthy Dead Mutation detection I:1 I:2 * * * II:1 II:2 II:3 II:4 * * * * * III:1 III:2 III:3 III:4 III:5 III:6

  25. WP 6.4 Genomics and colon cancer Scope of application • Invitation • Comment • Influence outcome • Use the tools • Data exchange • Treatment • Research • Mutation – database ?

  26. WP 6.4 Genomics and colon cancer Scope of application • Invitation • Comment • Influence outcome • Use the tools • Data exchange • Treatment • Research • Common – database ?

  27. International HL7 Interoperability Conference IHIC 2006 August 24-25, 2006, Cologne, Germany Early experience from HL7 v3 tools, the Pedigree topic, and CDA in the Danish HNPCC Registry FORTHFUNENHNPCC Stelios Sfakianakis et al

  28. FORTH UPM Evaluation HHUD Custodix ISCIII Aveiro WEB HNPCC FUNEN XML/HL7 Implementation SNP2005 Leicester 2007 2005 2006

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