Quality Issues in Clinical Genetic Services (eBook)
XXV, 393 Seiten
Springer Netherland (Verlag)
978-90-481-3919-4 (ISBN)
Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare.
Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process.
As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries.
Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.
Initially genetic disorders were all considered as rare diseases. At present, in the mid of 2009, the OMIM catalogue contains information on more than 12 000 entries of which about 2500 are available for clinical testing based on the identification of the responsible gene defect. However, altogether it has been estimated that about 8 percent of a population in the economically developed countries will during their lifetime suffer from a disease mainly as the result of their genetic constitution. Adding to that, it is estimated that all diseases have a genetic component, which will determine who will be at a higher than average risk for a certain disorder. Further it is postulated that in the near future, this genetic profiling could become useful in selecting an appropriate therapy adapted to the genetic constitution of the person. Thus, genetic disorders are not rare.Measuring quality of health care related processes became an issue in the 1990s, mainly in laboratory medicine, but also for hospitals and other health care systems. In many countries national authorities started to implement recommendations, guidelines or legal procedures regulating quality of health care delivery. In laboratory medicine, in parallel, the use of accreditation as a method assuring high quality standards in testing came in use. With the increasing possibilities of performing molecular genetic testing, genetic laboratories needed to become involved in this process.As many genetic disorders are rare, most laboratories worldwide offered analysis for a specific set of disorders, and, therefore, very early on a transborder flow of samples occurred. While international quality criteria (ISO) have been in existence for a number of years, the regulation of quality issues still may differ between countries. Based on their personal experience in the varying fields of quality research and clinical implementation of quality criteria in genetic services the authors of this book share their experience and give examples of the implementation of quality issues in national quality systems worldwide. This book, which is the result of the effort of many persons, is destined to aid laboratory managers and counsellors, health care managers and other stakeholders in national or international health care service to improve the services to the benefit of patients with suspected genetic disorders.
Foreword 5
Contents 7
Contributors 10
About the Authors 15
Improving Quality and Harmonization of Standards in Clinical Genetic Services in Europe: The EuroGentest Network of Excellence 24
Introduction 25
Quality Assurance 26
EQA Schemes 27
Reference Materials 27
Validation of Methods and Technologies 28
Training in QuA 28
Genetic Counseling 28
Databases 28
A QAu Database 28
Orphanet (www.Orpha.net) 29
Clinical Genetics, Community Genetics and Public Health 29
Research and Emerging Technologies 30
Patent Search and Evaluation 30
Patient and Professional Issues: Education, Ethics and Patient Rights 30
Dissemination 31
Training 31
The Eurogentest Website and Publications 31
The Road Shows 32
In Conclusion 32
References 32
The CanGneTest Pan-Canadian Research Consortium on Genetic Laboratory Services 34
The Human Genome Project Holds Great Promises for Medicine 34
The Need to Enhance Translation of Genetic Innovations into Better Care 35
Challenges in Uptake of the Most Effective and Efficient Technologies 35
Building a Pan-Canadian Team in Genetics Health Services Research 35
Organization of Laboratory Services in Canada 37
Validation of Tests 38
Tools for Decision Makers 38
Health Technology Assessment (HTA) and Genetics 39
KT Tools 39
Regulation and Legal Framework of Genetic Clinical Laboratory Services 40
A working Interface with Decision Makers and Stakeholders 40
Access to New Expertise, Tools and Infrastructures 41
Leverage of Funding 41
Streamlining the Pipeline 41
Overall and Systematic KT Plan 41
Links with International Partners 42
Sharing of Students/Transdisciplinary Training 42
Conclusion 42
References 43
Regulating Genetic Testing: The Relevance of Appropriate Definitions 45
Defining the Scope of Genetic Testing 46
Defining the Methods and Biological Materials to Be Used 49
Deciding as to the Context(s) of Clinical Application and Type of Testing 49
Clarifying Other (Ambiguous) Situations 50
Deciphering Meanings in Genetics versus Colloquial Usage 51
Genetics Laboratory-Based Tests, Clinical Genetics Testing and Genetic Information 51
Aims and Purposes of Regulation 52
Conclusions 53
References 54
Genetic Diseases as Rare Diseases: A European Policy View 55
Introduction 55
Policies Addressing Rarity in the Field of Research 56
Policies Addressing Rarity in the Field of Medicinal Products 57
Policies Addressing Rarity in the Field of Public Health 58
Information as a Tool to Improve Services 59
References 62
European Regulatory Issues Related to Quality in Provision of Genetic Service 63
Council of Europe 64
The Convention on Human Rights and Biomedicine 64
The Additional Protocol on Genetic Testing 65
European Union 66
Training of Professionals 66
Approval of Drugs and Medical Devices 67
Common Quality and Safety Standards for Healthcare in Europe 67
Conclusion 69
References 69
The European IVD Directive and Genetic Testing 70
History 71
Responsible Bodies 71
The Regulations 72
Essential Requirements and the New Approach 72
Postmarketing Controls 73
Special Measures 74
Reference Materials 75
Section 2 Problems 75
Purpose of the Directive 76
The Proposed GHTF Model 78
Scope of Review -- Analytic and Clinical Validity 79
Reference Materials 81
Conclusion 82
References 82
Quality Issues in Genetics Services in the United Kingdom 84
Introduction 84
Background to the UK National Health Service 85
Quality in the NHS 86
Organisation of Genetic Services 86
Quality in Genetic Services 86
National Drivers to Enhance Quality in Genetic Services 86
Regional Genetic Services 88
Delivering and Monitoring Quality in a Clinical Genetics Service 88
Delivering and Monitoring Quality in a Genetics Laboratory Service 89
Laboratory Quality Assessment Schemes 90
Molecular Genetics 90
Cytogenetics 90
Delivering and Monitoring Quality: The Importance of Education and Training of Staff 91
Clinical Staff 91
Medical Practitioners 91
Genetic Counsellors 91
Scientific Staff 92
Molecular Geneticists 93
Clinical Cytogeneticists 93
Genetic Technologists 93
On What Should Quality Standards Be Based? 93
Quality of Information and IT Systems 94
Summary 94
References 95
The Primary Care Perspective of Quality in Clinical Genetics Service United Kingdom as an Example 96
References 102
Regulation of Genetic Testing/Service in Canada 104
Introduction 104
Access to Services 105
Informed Consent 106
Privacy/Confidentiality of Health Information 106
Accreditation 107
Regulatory Agencies 107
Jurisdictions 108
Role of Professional Societies 108
Consumer Protection 109
Conclusions 110
References 110
Quality Issues in Clinical Genetic Services in Australia 112
Background The Australian Scene 112
Clinical Genetic Services 113
Genetic Laboratory Services 113
Supporting Patients and Their Rights 114
Quality Systems in Clinical Genetic Services 114
Setting Standards 115
Assessing Quality 115
Box 10Parameters accredited through the Quality Improvement Council of Australia program (QIC)0 114
Building Quality Organisations 115
Providing Quality Services and Programs 116
Sustaining Quality External Relationships 116
Consumer Input 116
Box 2 Recommendations from an Australian consumer satisfaction survey (Nisselle et al. 2008 ) 114
Foundations for a Quality Clinical Genetic Service 116
Current Status of Quality Processes in Clinical Genetic Services 117
Quality Systems in Laboratory Services 120
Conclusion 121
References 121
Clinical Genetic Testing and Services The US Perspective 123
Introduction 123
In Vitro Diagnostic Testing Clinical Genetic Testing 124
Steps to Ensure Quality Testing 125
Clinical Genetic Testing Educational Materials and Support Services 125
Controlling Quality of Testing Via Gatekeepers 126
Model Programs Genetic Test Evaluation and Translation 127
Evaluation of Genomics Applications in Practice and Prevention (EGAPP) 128
Collaboration, Education and Test Translation (CETT) Program 128
Clinical Genetic Services in the US 130
Conclusion 131
References 131
US Oversight and Regulation of Genetic Testing 133
Introduction 133
Current Oversight for Genetic Testing 134
Federal Oversight and Responsibilities of Federal Agencies 135
Oversight at the State-level 139
Voluntary Standards, Professional Guidelines, and Other Oversight Mechanisms 140
Oversight Issues, Efforts to Address Gaps in Current Oversight System, and Considerations for Future Oversight for Genetic Testing 141
Oversight Issues and Gaps 141
Efforts to Address Gaps in Current Oversight System 143
References 145
Regulatory Issues in Clinical and Laboratory Genetics in Developing Countries Examples from Latin America
Introduction 149
Demographic and Health Indicators 150
Health Systems 150
Genetic Services 152
Newborn Screening 153
Prenatal Genetics 154
Regulations and Quality Assessment in Laboratory Genetics 155
Concluding Remarks 155
References 156
Assuring Quality When Establishing Medical Genetic Services in Middle- and Low-Income Nations 157
Introduction 157
Health Needs Assessment for Medical Genetic Services in Middle-and Low-Income Nations 159
Conclusion 164
References 165
Clinical Validity and Utility of Genetic Testing in Heritable Disorders 166
Test Definitions and Applications 166
Evaluation of Genetic Tests 167
Analytic Validity 167
Clinical Validity 167
Clinical Utility 168
Validity and Utility of Genetic Tests in Clinical Settings 168
Diagnostic Tests 169
Predictive Tests in Asymptomatic Persons 169
Genetic Tests as an Aid to Reproductive Decision-Making 171
Tests for Asymptomatic Carrier Status 171
Prenatal Diagnosis 171
Summary of Some Systematic Evaluation Processes of Clinical Validity und Clinical Utility of Genetic Tests 172
Centres for Disease Control and Prevention (CDC), ACCE model 172
EGAPP, Centres for Disease Control and Prevention (CDC) 172
The Eurogentest Gene Cards Initiative 173
Outlook 173
References 175
Clinical Validity and Utility of Genetic Testing in Common Multifactorial Diseases 176
Background 176
Resource Allocation and Health-Related Needs 177
Clinical Validity and Utility: A Decision-Theoretical Framework 178
Clinical Validity of Currently Offered Genetic Tests for CMD 180
Low Clinical Validity of CDM Genetic Tests: A Possible Explanation 182
Is Risk Profiling a Solution? 182
Conclusion 183
References 183
The Quality of Genetic Screening: An Integral Approach 184
Introduction 184
Integral Approach to Quality 185
Methods of Genetic Screening 186
Quality of Method 186
Clinical Utility 187
Respect for Autonomy 189
Approriate Use of Resources 190
An Integral Approach 190
References 191
The Use of Principles in Allocating Scarce Health Care Resources for Genetic Tests 192
Principles for the Prioritization of Genetic Tests 193
Autonomy 193
Non-maleficence 194
Beneficence 195
Justice 196
Procedural Principles 196
Case Study: Prioritization in Sweden 197
International Guidelines as Ground for Priority-setting 198
Discussion 199
Conclusions 200
References 200
Outcome Measures in Clinical Genetics Services 202
Introduction 202
Evaluation 203
Outcome Measures 205
Outcome Measures in Clinical Genetics Services 206
Directions for Future Research 207
References 208
Direct to Consumer Testing 209
Introduction 209
How and Why Are Commercial Gene Tests Being Marketed? 210
Why do Different Companies Give Different Interpretations? 212
Do Conflicting Interpretations Matter? 214
What Steps Should be Taken to Protect Consumers? 215
References 216
Competency Based Core Curriculum for Training Specialists in Clinical Genetics 218
Introduction 218
The Specialist Role of Clincal Geneticists 219
Competency Based Specialty Training 219
Competency Based Assessment 221
Specific Aspects of Specialist Training 223
Entry Criteria 225
Quality Assurance 225
Time Frame for Specialist Training 225
References 226
Ensuring Education and Quality in the Practice of Health Professionals (Non-medical) Working in Genetic Services 227
The Development of Genetic Counselling Practice Within Genetic Services in Europe 227
The Profession of Genetic Counsellor 228
The Evolving Role of the Genetic Counsellor in Europe 230
Establishing a Set of Competences for Genetic Nurse and Counsellors 231
Assessing Competence 233
Future Directions 234
References 234
Quality Issues in Clinical Genetic Services: Ethical Aspects 236
Introduction 236
Quality and Ethics 237
The Strategy 238
The Present Situation 239
Identification of Problems and Concerns 239
Analysis of Goals in Clinical Genetics 241
Identification of Obstacles, Threats and Opportunities 244
Comparison of Different Strategies 245
Concluding Remarks 246
References 246
Democratic Expert Influence Through Bioethical Advisory Committees? The Case of PGD Legislation in Sweden 248
Introduction 248
Bioethical Advisory Commissions and Democracy 249
The Swedish Council on Medical Ethics 250
Pre-implantation Genetic Diagnosis (PGD) 251
Embryonic Stem Cell Research 252
Gene Therapy 253
Democratic Perspective 254
Conclusion 256
References 257
Quality Issues in Clinical Genetic Services Regulatory Issues and International Conventions
Conclusions 263
References 264
IPR Issues and High Quality Genetic Testing 265
Introduction 266
Patenting of Genetic Testing 266
Genes 266
Box 1 Article 5 EU Biotechnology Directive 266
Box 2 Article 53 European patent convention (EPC) 268
Diagnostic Methods 269
Carrying Out Genetic Testing 271
Research Exception 271
Licensing 271
Compulsory Licensing 272
Collaborative Licensing 272
A Real Life Example: The BRCA Saga 273
The Patenting of Breast and Ovarian Cancer Testing 273
Box 3 BRCA1 and BRCA2 patents (Europe) 274
Box 4 Major BRCA1 gene claim (Europe) 274
Box 5 Major BRCA1 method claim (Europe) 274
Box 6 Major patents related to PCR (Europe) 274
Box 7 Major patents related to MPLA (Europe) 274
Box 8 Major patents related to Lightcycler (Europe) 274
The Licensing of Breast and Ovarian Cancer Testing 276
Concluding Remarks 276
Lexicon 277
References 277
Case Law 279
Quality Issues in the Evaluation and Regulation of Genetic Testing Services: A Public Health Approach 280
Introduction 280
Assays, Tests and Services 281
Quality and Standards 283
Regulation 285
Conclusion 287
References 288
Quality Management Systems and Accreditation 289
Introduction 289
International and National Standards 289
Accreditation and Certification 292
Accreditation Process and Accreditation Bodies 294
Quality Management in Genetic Laboratories 295
Conclusion 297
References 298
External Quality Assessment in Molecular Genetic Testing 299
Definitions and Terminology in External Quality Assessment 299
Approaches to Organising EQA Services for Clinical Molecular Genetic Testing 300
Disease Service Specific EQA and Technical EQA 300
Sourcing EQA Materials Manufacture and Validation - EQA and Reference Materials 301
Selection of Cases 302
Assessment of EQA Performance Genotype, Interpretation and Reporting
EQA and Poor Performance 304
Learning Lessons from EQA 305
EQA and Post Market Surveillance 305
EQA and Good Practice 305
Inter-laboratory Comparison When EQA is not Available 306
Anonymity and Disclosure in EQA 306
The Future of Molecular Genetics EQA 306
Competence of EQA Providers 307
References 307
Quality Issues in Molecular Genetic Testing 309
A. General Principles 311
B. Quality Assurance Systems in Molecular Genetic Testing 312
C. Proficiency Testing: Monitoring the Quality of Laboratory Performance 313
D. Quality of Result Reporting 313
E. Education and Training Standards for Laboratory Personnel 314
Summary 314
References 315
Quality in Cytogenetics 316
Introduction 317
Internal Quality Control 317
General Record Keeping 317
Document Control 318
Sample Log In 318
Technical Processes 318
Choice and Availability of Tests 319
Analysis 320
Interpretation of Results 322
Communication of the Result 323
Information and Resources 324
External Quality Assessment 324
Laboratory Accreditation 324
References 325
Fluorescence In Situ Hybridization (FISH) Quality Issues in Molecular Cytogenetics 326
Introduction 326
Special Quality Issues for Molecular Cytogenetics 327
Staff and Laboratory 327
Microscope 327
FISH-probes 328
Samples 329
Evaluation and Issuing of a Report 329
Karyotype Formula 329
Protection of the Environment and Staff 331
Conclusion 331
References 331
Quality Issues in Biochemical Genetic Testing 332
Introduction 332
External Quality Control in BGT in Europe: The ERNDIM Foundation 333
ERNDIM EQA Schemes 334
Quantitative Schemes 334
Scoring and Assessment of Performance 337
Web-Site Submission of Results 338
Pilot Schemes 338
Accreditation of Laboratories and EQA Schemes 338
Further Measures Aimed at Improvement of Performance 339
Training and Education 340
ERNDIM / EUGT Directory of Laboratories 340
The Eurogentest Project and the Role of ERNDIM 341
Conclusion 341
References 342
Emerging Technologies, Need for Quality Assessment 343
Introduction 343
Introduction of Molecular Genetic Tests, ad hoc Versus Concentrated 344
Evaluation, Validation and Implementation of (Novel) Technologies 346
Up-Coming New Technologies High-Though-put Sequencing Technologies as Diagnostic Testing Methods
Concluding Remarks 349
References 350
Genetic Counselling in Rare Diseases 351
What is Genetic Counselling? 351
Rare Disease 353
How to Reach the Diagnosis in Rare Diseases? 353
When is Genetic Counselling Needed? 354
Diagnostic Setting 355
Predictive Testing 355
Carrier Testing in the Family and Carrier Screening Programs 356
Prenatal Diagnosis 357
Preimplantation Diagnosis 358
Cystic Fibrosis as an Example 358
How to Organize and Evaluate Genetic Counselling in Rare Diseases? 360
References 361
Genetic Counselling for Late-Onset Disorders 362
Introduction 362
Genetic Counselling Before the Availability of Genetic Tests for Late-Onset Disorders 363
Genetic Counselling Related to Predictive Testing 364
Genetic Counselling for Predictive Testing for Huntingtons Disease: A Model or Valuable Foundation for Other Diseases 366
Genetic Counselling for Predictive Testing for Other Autosomal Dominant Late-Onset Diseases 367
Closing Comments 367
References 369
Genetic Counselling for Common Diseases, Cancer Susceptibility as Paradigm 370
Genetic Testing 372
Predictive Tests 373
Testing for Lower Penetrance Genetic Variants 376
Conclusions 377
References 377
Genetic Counselling in Disorders of Low Penetrance 379
Development of Genetic Counselling 379
Evaluation of Genetic Tests 380
Genetic Counselling in Disorders of Low Penetrance and Common Complex Diseases 381
Neural Tube Defects and Genetic Counselling 382
Haemochromatosis 383
Schizophrenia 384
From Research Into Clinical Use 385
Conclusion 386
References 386
Patient Perspectives on Genetic Testing 388
Introduction 388
Patient Expectations of Genetic Service 390
Patient Centred Service Development 391
Eurogentest 391
Eurogenguide 392
Professional Development 393
Fitness for Purpose 393
Conclusion 394
References 395
Index 396
| Erscheint lt. Verlag | 25.6.2010 |
|---|---|
| Zusatzinfo | XXV, 393 p. |
| Verlagsort | Dordrecht |
| Sprache | englisch |
| Themenwelt | Geisteswissenschaften |
| Medizin / Pharmazie ► Medizinische Fachgebiete ► Laboratoriumsmedizin | |
| Studium ► 1. Studienabschnitt (Vorklinik) ► Biochemie / Molekularbiologie | |
| Studium ► 2. Studienabschnitt (Klinik) ► Humangenetik | |
| Sozialwissenschaften ► Pädagogik | |
| Schlagworte | Assessment • Fluoreszenz in situ-Hybridisierung • Genetics • Gentest • Hybridization • Laboratory • laboratory medicine • Public Health • therapy |
| ISBN-10 | 90-481-3919-8 / 9048139198 |
| ISBN-13 | 978-90-481-3919-4 / 9789048139194 |
| Haben Sie eine Frage zum Produkt? |
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