Download præsentationen
Præsentation er lastning. Vent venligst
Offentliggjort afKarl Carstensen Redigeret for ca. et år siden
1
Genomics and colon cancer Electronic data exchange Inge Bernstein The Danish HNPCC-register, Hvidovre Hospital, Denmark
2
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Hereditary Colon cancer HNPCC : 3-6% of CRC 3-6% Inherited risk CRC: up to 35%
3
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Reduced incidence CRC > 60% Earlier detection CRC Better survival CRC Cost-effective HNPCC identification & screening
4
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Sporadic4% Lifetime risk - CRC
5
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Sporadic4% One relative6% Lifetime risk - CRC
6
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Sporadic4% One relative6% Two relatives17% Lifetime risk - CRC
7
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Sporadic4% One relative6% Two relatives17% At risk HNPCC 40-45% Lifetime risk - CRC
8
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Sporadic4% One relative6% Two relatives17% At risk HNPCC 40-45% Gene carrier HNPCC 80-90% Lifetime risk - CRC
9
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Family level Pedigree Individual level Cancers – prelesions Mutations – SNP Risk estimation – surveillance programs Phenotype – Genotype
10
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Referral CPR-Reg, journals, Death certificates Pedigree No Surveillance No Surveillance HNPCC No Mutation Detected Fam.members offered Gen.test (diagnose) Surveillance No Yes Gen.test (screening) Surveillance Yes, and DNA is available Yes, but no DNA available Mutation Surveillance No Surveillance No Surveillance YesNo Data flow HNPCC Gen. dept Sur.dept Lab.
11
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Kennedy Panum Rigshospital Odense HNPCC-register Vejle Århus Genetic departments Collaborators
12
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Rigshospital Skejby Laboratories Ålborg Collaborators Hvidovre
13
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Glostrup Herlev Odense Vejle Skejby Hillerød Helsingør Frederikssund Roskilde Køge Næstved Nykøbing-Falster Kalundborg Svendborg Holbæk Rigshospital Hvidovre Bispebjerg Frederiksberg Gentofte Sønderborg Haderslev Tønder Esbjerg Fredericia Horsens Kolding Holstebro Herning Silkeborg Randers Viborg Skive Nykøbing-Thisted Hjørring-Brønderslev Frederikshavn-Skagen Ålborg Slagelse Bornholm Åbenrå Acknowledgement Surgical departments Hvidovre Collaborators
14
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Glostrup Herlev Odense Vejle Skejby Hillerød Helsingør Frederikssund Roskilde Køge Næstved Nykøbing-Falster Kalundborg Svendborg Holbæk Rigshospital Hvidovre Bispebjerg Frederiksberg Gentofte Sønderborg Haderslev Tønder Esbjerg Fredericia Horsens Kolding Holstebro Herning Silkeborg Randers Viborg Skive Nykøbing-Thisted Hjørring-Brønderslev Frederikshavn-Skagen Ålborg Slagelse Acknowledgement Gynaecologic departments Hvidovre Collaborators
15
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Herlev Odense Vejle Skejby Hillerød Roskilde Næstved Nykøbing-Falster Kalundborg Svendborg Holbæk Rigshospital Hvidovre Bispebjerg Sønderborg Esbjerg Fredericia Horsens Holstebro Herning Randers Viborg Skive Hjørring-Brønderslev Ålborg Slagelse Acknowledgement Pathology departments Hvidovre Collaborators
16
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer 6 genetic dept. 4 laboratories 40 surg.dept. >30 gyn.dept. 25 path.dept HNPCC-register Today: Paper based Aims: Interoperability Communication Further IT-support Web-reporting of data
17
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Invited departments Genetic Department Århus Odense Vejle Hvidovre Surgical Department Herning Ålborg Odense Hvidovre Århus Laboratory Ålborg Copenhagen Hvidovre Århus WP 6.4 Genomics and colon cancer
18
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
19
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
20
Final Review, Brussels, 28 September 2007 HNPCC - standards Family data - Phenotype Individual data - Phenotype Mutations/SNPs - Genotype Surveillance - Phenotype WP 6.4 Genomics and colon cancer
21
Genetic Diseases International HNPCC DENMARK Other ? GER- MANY Polyposis Breast Cancer Onco- genetic FIN- LAND SWE- DEN National
23
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Design of XML documents WEB-client: open source Danish Centre for Health Telematics
24
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Clinical contentXML SchemasImplementation HL7 compliance HL7 standard FORTH WP 6.4 Genomics and colon cancer WEB-client
25
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Danish Health Data Network Web Server Laboratory / Surgery Dep. / Genetic Dep. Web Service Provider Front end HNPCC DB HTML Web ServiceNot part of InfoBioMed Web Page ClientWeb Service Client Vali- dation WP 6.4 Genomics and colon cancer
26
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
27
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
28
Final Review, Brussels, 28 September 2007 I:1I:2 II:1II:2II:4II:3 III:1III:2III:3III:5III:4III:6 ** * * ** Colon cancer Other HNPCC cancer Healthy Dead At risk Max Bergren
29
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Genetic Department Århus Odense Vejle Hvidovre Surgical Department Herning Ålborg Odense Hvidovre Århus Laboratory Ålborg Copenhagen Hvidovre Århus WP 6.4 Genomics and colon cancer II:1 Max Bergren
30
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007
31
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007
32
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 I:1I:2 II:2II:4II:3 III:1III:2III:3III:5III:4 III:6 * * * ** Colon cancer Other HNPCC cancer Healthy Dead At risk II:1 * Max Bergren **
33
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 I:1I:2 II:2II:4II:3 III:1III:2III:3III:5III:4 III:6 * * * ** Colon cancer Other HNPCC cancer Healthy Dead At risk II:1 * **
34
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 I:1I:2 II:2II:4II:3 III:1III:2III:3III:5III:4 III:6 * * * ** Colon cancer Other HNPCC cancer Healthy Dead At risk II:1 * Max Bergren ** Mutation detection
35
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 MLH1, exon4, c.350C>T, p.T117M Genetic Department Århus Odense Vejle Hvidovre Surgical Department Herning Ålborg Odense Hvidovre Århus Laboratory Ålborg Copenhagen Hvidovre Århus WP 6.4 Genomics and colon cancer
36
Final Review, Brussels, 28 September 2007
37
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 I:1I:2 II:1II:2II:4II:3 III:1III:2III:3III:5III:4III:6 ** * * ** Colon cancer Other HNPCC cancer Healthy Dead Offered gene test **
38
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 System implemented Genetic Department Århus Odense Vejle Hvidovre Surgical Department Herning Ålborg Odense Hvidovre Århus Laboratory Ålborg Copenhagen Hvidovre Århus WP 6.4 Genomics and colon cancer
39
Final Review, Brussels, 28 September 2007 134 XML – 87% Surgical dept WP 6.4 Genomics and colon cancer
40
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
41
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
42
Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer 67% increase surveillance reports
43
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Gaps identified Lack of Standards Local databases Time-consuming Implementation Reporting Interest – Feed-back WP 6.4 Genomics and colon cancer
44
Final Review, Brussels, 28 September 2007 Current status data exchange HNPCC 4 XML standards on clinical content Design of XML documents WEB service client Experience –Implementation –Evaluation –Dissemination –Early HL7 and CDA experience –Ethical, legal and security issues Specific outcome
45
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 WP 6.4 Genomics and colon cancer
46
Final Review, Brussels, 28 September 2007 Skejby Laboratories Ålborg Grant – Database Minister of health Hvidovre
47
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 New Castle 2005 Cologne 2006 Yokohama 2007 Majorca 2006 EU Majorca 2007 EU
48
WP 6.4 Genomics and colon cancer Final Review, Brussels, 28 September 2007 Australia - Melbourne Belgian - Brussel Spain - Barcelona Holland - Leiden Lund - Sweden Interested
Lignende præsentationer
© 2024 SlidePlayer.dk Inc.
All rights reserved.