1. Introduction 1
1.1. From clinical to clinico-genomic research: New ethical and legal challenges 1
1.2. The ACGT project: Developing an ICT infrastructure 3
1.3. Aim and structure of the book 4
2. Ethical requirements 7
2.1. Introduction 7
2.2. Informed consent 8
2.2.1. Ethical foundations of the doctrine of informed consent 8
2.2.1.1. Historical background 9
2.2.1.2. General aspects 10
2.2.1.3. Informed consent in tissue-based research 10
2.2.2. The scope of consent 12
2.2.2.1. Models of consent 12
2.2.2.1.1. Specified consent 13
2.2.2.1.2. Broad or blanket consent for future research 14
2.2.2.1.3. Tiered consent models 17
2.2.2.1.4. Patients' and donors' perspectives 18
2.2.2.1.5. Particularities of consent to research involving children 21
2.2.2.2. Informed consent and communication 25
2.2.2.2.1. Consent as a process 25
2.2.2.2.2. The character of information 27
2.2.2.3. Issues to be consented to 29
2.2.2.3.1. General requirements 30
2.2.2.3.2. Sharing data and information 30
2.2.2.3.3. Re-contact 31
2.2.2.3.4. Commercial interests 31
2.2.2.3.5. The timeframe of consent 32
2.2.2.4. The right to withdraw consent 32
2.3. The right to know, the duty to inform, and the quality of feedback 33
2.3.1. Access to personal information: a donor driven inquiry process 34
2.3.2. Feedback of research results: an investigator driven disclosure process 35
2.3.2.1. Informing about general research results 36
2.3.2.1.1. Ethical foundations 36
2.3.2.1.2. Practical challenges of feedback processes regarding general research results 37
2.3.2.2. Information about individually relevant research results 38
2.3.2.2.1. Ethical foundations 39
2.3.2.2.2. What to feed back? 40
2.3.2.2.3. Characteristics of genetic research results in the context of cancer trials 44
2.3.2.2.4. To whom to feed back? 47
2.3.2.2.5. Practical challenges of feedback processes regarding individual research results 50
2.4. Summary of consolidated ethical requirements 55
2.4.1. Ethical requirements 56
2.4.1.1. Summary: The informed consent process 56
2.4.1.2. Conclusions: How to design the informed consent process 58
2.4.1.3. Summary: Donor driven inquiry processes and investigator driven individual feedback processes 60
2.4.1.4. Conclusion: How to organize donor driven inquiry processes and investigator driven individual feedback processes 63
2.5. Outlook: Ethical challenges in the European context 64
2.5.1.1. Revision of data protection and information flows 64
2.5.1.2. Community interests 65
3. Legal requirements 67
3.1. Introduction 67
3.2. Theoretical analysis 67
3.2.1. European Data Protection Directive 95/46/EC 67
3.2.1.1. Genesis 67
3.2.1.2. Scope of the Directive 68
3.2.1.2.1. Personal data 68
3.2.1.2.1.1. Anonymous data 69
3.2.1.2.1.2. Pseudonymous data 70
3.2.1.2.2. Territorial application 70
3.2.1.3. Fair and lawful data processing 70
3.2.1.3.1. General 70
3.2.1.3.1.1. Requirement of a legal basis 70
3.2.1.3.1.2. Technical and organisational measures 71
3.2.1.3.2. Sensitive data 72
3.2.1.3.2.1. Definition 72
3.2.1.3.2.2. Prohibition of data processing 73
3.2.1.3.2.3. Exceptions 73
3.2.1.4. Duties of the data controller 74
3.2.1.5. Rights of the data subject 75
3.2.1.5.1. Information duties regarding data collection from the data subject 75
3.2.1.5.2. Information duties regarding data which has not been obtained from the data subject 76
3.2.1.5.3 Right of access 77
3.2.1.5.4. Right to rectification, erasure or blocking 78
3.2.1.5.5. Exemptions and restrictions 79
3.2.1.5.6. Right to object 79
3.2.1.6. Transfer of personal data to third countries 80
3.3 Data protection within a trans-european research project - using the example of ACGT 82
3.3.1. Data flows 82
3.3.2. Legitimate processing of genetic data (Directive 95/46 EC) 84
3.3.2.1. Genetic data 84
3.3.2.1.1. Special characteristics of genetic data with regard to data protection 85
3.3.2.1.2. Anonymisation of genetic data 90
3.3.2.2. Relevance of the character of data processing for the distinction between personal data and anonymous data 95
3.4. Data protection framework within genetic research networks 101
3.4.1. Anonymisation of genetic data within research networks 102
3.4.2. Necessary legal agreements, contracts and informed consents 103
3.4.2.1. Contract between the Data Protection Authority and the data exporter (e.g. a hospital) 105
3.4.2.1.1. Guarantee of a "state-of- the-art" pseudonymisation 105
3.4.2.1.2. Technically and organisationally separated project database 105
3.4.2.2. Contract between Data Protection Authority and end users 106
3.4.2.2.1. Data controllers within genetic research networks 106
3.4.2.2.2. Data Protection Authority as central Data Protection Authority within the research network 108
3.4.2.2.3. Ensuring the context of anonymity 110
3.4.2.2.4. Separated database 111
3.4.2.2.5. No matching 111
3.4.2.3. Second pillar and first fallback scenario: Informed Consent 112
3.4.2.3.1. Regulatory framework 113
3.4.2.3.1.1. Definition 113
3.4.2.3.1.2. Declaration of intention 113
3.4.2.3.1.3. Freely given 113
3.4.2.3.1.4. For a specific case 113
3.4.2.3.1.5. Informed indication 114
3.4.2.3.2. Scope of the consent 114
3.4.2.3.2.1. Object of the consent/purpose specification/future research 114
3.4.2.3.2.2. Expected period of usage/temporal scope of the consent 115
3.4.2.3.2.3. Death of the patient 116
3.4.2.3.2.4. Data transfer to third parties/third countries 117
3.4.2.3.3. Consent of relatives needed? 117
3.4.2.3.3.1. Additional information of relatives is collected 117
3.4.2.3.3.2. No additional information of relatives is collected 118
3.4.2.3.4. Consent of the minor data subject or person with intellectual disabilities needed? 118
3.4.2.3.5. The right to withdraw and right to erasure 119
3.4.2.4. The right to know and the duty of notification 120
3.4.2.5. Third Pillar and second fallback scenario: Exceptions for genetic research in national legislations 122
4. Legal conclusion 125
5. References 127
6. Appendix 1- legal terminology 137
7. Appendix 2 - relevant regulation 141