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Introduction to INFOBIOMED Network of excellence Danish Pilot WP6.4 Genomics and colon cancer

Introduction to INFOBIOMED Network of excellence Danish Pilot WP6.4 Genomics and colon cancer. AZ. Genomic & colon cancer WP 6.4. KI. UEdin. FUNEN. HNPCC. ACTA. HHUD. Custodix. FIMIM. INFORMA. IMIM. UAVR. ISCIII. UPM. FORTH. HNPCC-register. Today: Hard copy.

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Introduction to INFOBIOMED Network of excellence Danish Pilot WP6.4 Genomics and colon cancer

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  1. Introduction to INFOBIOMED Network of excellence Danish Pilot WP6.4 Genomics and colon cancer

  2. AZ Genomic & colon cancer WP 6.4 KI UEdin FUNEN HNPCC ACTA HHUD Custodix FIMIM INFORMA IMIM UAVR ISCIII UPM FORTH

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

  4. Data-flow Genetic. Consultance Genetic. Consultance HNPCC HNPCC Heterogeneous Genetic. Consultance Genetic. Consultance Surgical department (50) Laboratory Examination & Results Surveillance Examination & Results Historical Clinical Information Laboratory Examination & Results Laboratory Examination & Results Laboratory Examination & Results

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

  6. Jyvaskyla-Finland Lund-Sweden Düsseldorf-Germany Invited HNPCC-registers Leiden-Holland

  7. HNPCC - standards • Family data - Phenotype • Individual data - Phenotype • Mutations/SNPs - Genotype • Surveillance - Phenotype

  8. EDI/XML-messages

  9. Penetration

  10. Infrastructure

  11. Pedi- gree 1 2 N Pedi- gree 1 2 3 4 5 N 1 2 3 4 5 N Current data flow Patient database Clinical database (1 HNPCC) Clinical Departm. EHR Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

  12. Clinical XML Family XML WEB- based data transfer Lab-XML Pedigree tool Lab-XML Future data flow Patient database Clinical database (HNPCC) Clinical Departm. Patientdatabase Klinisk database (Mamma) Patientdatabase Klinisk database (Other) EHR Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

  13. Three steps XML-Standards Web-based access Interoperability

  14. Clinical XML Family XML WEB- based data transfer Lab-XML Pedigree tool Lab-XML Step one Patient database Clinical database (HNPCC) Clinical Departm. Patientdatabase Klinisk database (Mamma) Patientdatabase Klinisk database (Other) EHR Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

  15. Clinical XML Family XML WEB- based data transfer Lab-XML Pedigree tool Lab-XML Step two Patient database Clinical database (HNPCC) Clinical Departm. Patientdatabase Klinisk database (Mamma) Patientdatabase Klinisk database (Other) EHR Genetic Counselling Genetic laboratory Genetisk laboratory Genetisk laboratory

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

  17. Polyposis HOL-LAND SWE-DEN FIN-LAND HNPCCDENMARK GER-MANY Onco- genetic Genetic Diseases Mamma- Cancer National International Specific vs. general OMG HL7 SNOMED CT Others?

  18. Expected outcome • Open XML-Standards, that: • Meets specific HNPCC needs • Meets similar needs • In similar onco genetics fields • In other countries • Builds on existing international standards (e.g. HL7). • Proof of concept in Danish case.

  19. Status • We know about: • Specific HNPCC requirements (DK & EU) • We must learn more about: • Communication requirements in other onco-genetic fields • What int. standards (e.g. HL7) have to offer

  20. Laboratory Mutations/SNPs GENOTYPE KAROLINSKA ? Data validation HHUD ? Data-flow Genetic.dept. FENOTYPE KAROLINSKA ? Genetic.dept. FENOTYPE KAROLINSKA ? Family XML/HL7 Pedegree tools Individual XML/HL7 FORTH ? UPM? CUSTODIX ? Genetic.dept. PHENOTYPE KAROLINSKA ? HNPCC HNPCC Mutation XML/HL7 FORTH ? WEB ??? Hard copy Surgical department Surveillance Exam.& results PHENOTYPE Historical Clinical data PHENOTYPE

  21. BMI support • Standards • Content / semantics • Communication • Pedigree • Integration / new development • Confidentiality • Receiving/organizing data from different existing sources

  22. Visit- Status National Workshop S WEB WEB G XML/HL7 L XML/HL7 Disc. papers R Visit- Status International Workshop R Sep/Oct November March December Jan/Feb Pre- analysis Status report

  23. Details of work (Months 1-12 18)   Month 1- 3 • Orientation and Cooperation interest - Responsible partner: HNPCC • Additional – Perspective -Responsible: FUNEN-HNPCC International & Other oncogenetic diseases Month 2-52-6 • Preanalysis - description of actual status - Responsible: FUNEN-HNPCC • Discussion papers - common platform-tools-integration requirements Responsible partners: HNPCC-FUNEN- KI-CUSTODIX-FORTH-HHUD-UPM Input: Participating Departments & Registers • Danish Follow-up meeting 18.October 2004 - Cooperation agreements Responsible: FUNEN-HNPCC – 6.December 2004 Month 5-9 6-12 • International consensus- Conference on Discussion papers 11.Marts 2005 • Draft XML / HL7 standards HNPCC Pheno-/Geno-type - Responsible: FUNEN Month 10-12 12-18 • Implementation and – Responsible partners : FUNEN-HNPCC • Status-report - Responsible partners: HNPCC-FUNEN-KI-CUSTODIX-FORTH-HHUD-UPM Input: Participating department & Registers  

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