Hospital Biobanks - Use of Specimens and Clinical Information in Disease Phenotyping
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1 Hospital Biobanks - Use of Specimens and Clinical Information in Disease Phenotyping Olli Carpén Auria Biobank, University of Turku and Turku University Hospital ocarpen@utu.fi
2 Understanding of disease mechanisms Genome knowledge Health care cost Patient, health care system magicseaweed.com The wave is coming are we prepared? pocketburgers.com jamiescottimages.com
3 Personalized (stratified) medicine - a megatrend Genomic analyses are becoming affordable and trivial due to technical innovations
4 The diagnostic challenge in personalized medicine The success of personalized medicine depends on having accurate diagnostic tests that identify patients who can benefit from targeted therapies. Cnacer Pain
5 Hospital biobanks why? CURRENT reactive medicine Wait for symptoms or gross evidence of diasease Anatomic and functional imaging, biochemistry, morphological analysis ICD-10 diagnosis One size fits all therapy Evidence based = slow changes Methods for earlier detection or prevention of individuals at risk More specific biomarkers More rapid drug development Better trial design by cohort stratification based on clinical and molecular features FUTURE P4 medicine Preventive Predictive Personalized Participatory Data driven = dynamic changes Population based high quality specimens and medical records play a key role in the transition = deeper phenotyping, real life data
6 Special features of hospital biobanks
7 The new Finnish biobank law ( ) - broad consent (all clinical specialities treated at biobank owner hospitals), - permission to link biobank specimens and information from hospital databases and national registries - allows publicprivate partneship with three important principles Promotion of research and R&D Regulation by national authorities - professionality, - quality standards Protection of donors rights - informed consent (opt-out procedure for retrospective samples), - privacy protection, sample pseudonymization, - donors right to know about the use of their samples Nat Rev Genet 2014
8 BBMRI.fi network Turku Kuopio Oulu Tampere National node Databases Common services Quality standards Helsinki FHRB HUB Kuopio Jyväskylä Tampere Turku Helsinki Jyväskylä Oulu THL
9 Archived diagnostic specimens the backbone of Finnish hospital biobanks Diagnostic tissue specimens have been archived in Finland for decades (e.g. Auria biobank collection originates from 1930) From year 1993 all Auria biobank diagnoses and from 2000 all diagnostic information has been stored in an electronic format Auria biobank archives contain over specimens
10 Auria biobank specimens* Number of patients Diagnosis Tissue type Age distribution Specimens by organ Number of specimens * transfer process ongoing
11 The biobank legacy sample catalogue
12 Many major diseases are not covered by tissue collections need for unselected consenting and sample collection! Based on patients in Turku University Hospital (year 2012). Most common diagnoses Diagnosis Patient # Essential hypertension Atrial fibrillation or flutter 7316 Type II diabetes 5565 Sleep apnea 5466 Unspecified stomach pain 4918 Acute upper respiratory inf Pneumonia 3618 Bronchial asthma 3555 Cataract 3052 Atherosclerotic heart disease 3023
13 Consent form Prospective consenting as part of hospital routine In addition, I consent to Auria Biobank contacting me - to inform me of findings from my samples which are of significance to my health % have said Yes - to discuss whether I would like to provide additional samples or participate in some form of research that is not covered by this consent % have said Yes Implications?
14 Hospital biobanks can rapidly accumulate samples for research. Case: Rheumatoid arthritis (ICD-10 M05 M06) Male Female All 80% 60% consent (N=5374) Weeks Examples of associated clinical information (real life data), years : Over 90,000 parallel clinical diagnoses (ICD-10) Over 6 million laboratory measurements
15 Electronic Health Records Database an essential feature of hospital biobank
16 Data transfer to Biobank Encode data Data request Hospital EHR systems Raw encoded data files Parse data Auria Biobank core registers Consent register Code register Sample and data register
17 Examples of Auria biobank cancer specimens* Breast cancer/age and number All cases <40y (n=279) Breast cancer overall survival * transfer process ongoing = Phenotype profiling
18 An example: longitudinally collected specimens and health information of a prostate cancer patient
19 Health Care Records Database Platform for Medical Health Care Research Lung cancer N=689 Gastric cancer N=238
20 Why has lung cancer survival improved? Earlier detection? Improved diagnostics? Better surgery? New therapies? Changes in disease biology? Other explanations?
21 Conclusions: Biobanks can and need to be integrated to everyday hospital routine Hospital biobanks bring little value, unless they are associated with structured health care information databases The deep phenotyping and real life data provided by biobanks and associated EHRs will be instrumental in the transition from evidence based to data driven medicine
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