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12. Ethics, Patents and Regulatory issues ................................................... 6


Introduction ........................................................................................................................ 6
Ethical concerns about genetic diagnosis............................................................................. 6
Ethical guidelines for molecular diagnostics ........................................................................... 7
Ethical aspects of direct-to-consumer genetic services ............................................................ 8
US public attitudes about genetic testing .............................................................................. 9
Opinion of European geneticists about DTC genetic testing ...................................................... 9
Genetic testing for susceptibility to adult-onset cancer ........................................................... 9
Ethics of preimplantation genetic diagnosis ......................................................................... 10
Preimplantation genetic diagnosis to screen for hereditary diseases .................................. 10
PGD to test for susceptibiliy to cancer ............................................................................ 10
PGD and stem cells ..................................................................................................... 11
Genetic research on stored tissues ..................................................................................... 11
Informed consent in clinical trials of in vitro devices ............................................................. 12
Concluding remarks about ethical issues ............................................................................. 12
Insurance underwriting and gene tests ............................................................................... 12
Should genetic information be available to health insurers? .............................................. 13
A need for the re-examination of current views............................................................... 13
Genetic Information Nondiscrimination Act of US ............................................................ 14
Impact of the US health care reform bill on genetic testing issues ..................................... 14
Patents for molecular diagnostics ...................................................................................... 14
PCR patents .................................................................................................................... 14
Patenting DNA sequences ................................................................................................. 14
US policy on gene patenting relevant to molecular diagnostics ............................................... 15
The impact of disease gene patents on molecular diagnostics ................................................ 16
Licensing problems associated with genetic testing .............................................................. 16
BRCA1 and BRCA2 gene patents ........................................................................................ 16
Role of the WHO in genetic testing standards .................................................................... 17
NIH's Genetic Testing Registry .......................................................................................... 18
Regulatory issues in the US ............................................................................................... 18
Assay Migration Studies for In Vitro Diagnostic Devices ........................................................ 18
Assessment of diagnostic accuracy ..................................................................................... 18
Sensitivity and specificity ............................................................................................. 19
Documentation of diagnostic accuracy ........................................................................... 19
Discovery of incidental findings on genetic screening ............................................................ 20
Evaluation of companion diagnostics/therapeutic for cancer .................................................. 21
FDA regulation of multivariate index assays ........................................................................ 21
FDA guidance for IVDs to detect pathogens ......................................................................... 22
FDA guidelines for devices to detect and differentiate HPV .................................................... 23
FDA's Microarray Quality Control ........................................................................................ 23
FDA and point-of-care diagnosis ........................................................................................ 24
Genetic testing of rare disorders ........................................................................................ 24
Guidelines for developing omics-based tests ........................................................................ 25
Shared responsibility on oversight of omics-based tests ................................................... 25
Quality control of molecular diagnostic laboratory procedures ................................................ 26
Quality assurance of rna expression profiling ....................................................................... 26
Quality control of point-of-care tests .................................................................................. 27
Regulation of IVD by the FDA ............................................................................................ 27
Regulation of in vitro companion diagnostics by the FDA ....................................................... 28
Regulation of in vivo diagnostics by the FDA ........................................................................ 29
Regulation of laboratory developed tests............................................................................. 30
Home-brew tests ........................................................................................................ 30
Laboratory-developed tests used by Medicare recipients .................................................. 30
Oversight of LDTs by the FDA ....................................................................................... 31
Regulatory aspects of FISH ............................................................................................... 31
Regulation of genetic testing ............................................................................................. 31
Role of the FDA in genetic testing ................................................................................. 31
Regulation of direct-to-consumer genetic testing ................................................................. 32
Need for regulatory oversight of DTC ............................................................................. 32
Regulatory issues concerning blood and plasma products ...................................................... 34
United States Diagnostics Standards .................................................................................. 34
Regulation of in vitro diagnostics in the EU ....................................................................... 35
EU regulations for testing of blood products ........................................................................ 35
Regulation of genetic testing in EU ..................................................................................... 35
Evaluation of diagnostic laboratory tests in the UK ............................................................... 37
Pre-implantation genetic diagnosis in the UK ....................................................................... 37

13. Markets for Molecular Diagnostics ...................................................... 38


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Introduction ...................................................................................................................... 38
Methods for study of molecular diagnostic markets ........................................................... 38
The overall market for diagnostic technologies ................................................................. 39
Molecular diagnostic markets according to technologies ................................................... 39
Marketing strategies according to technologies .................................................................... 40
Nucleic acid isolation market ............................................................................................. 40
Market for PCR-based tests ............................................................................................... 40
Markets for PCR instrumentation ................................................................................... 40
Markets for real-time PCR and qRT-PCR ......................................................................... 41
PCR market players ..................................................................................................... 41
DNA sequencing market.................................................................................................... 42
Cytogenetic market .......................................................................................................... 42
Market for FISH technologies ........................................................................................ 42
Biochip/microarray market ................................................................................................ 43
Biosensor market ............................................................................................................. 43
Nanobiotechnology for molecular diagnostics ....................................................................... 43
Markets for gene expression technologies ........................................................................... 44
Reagents and other disposable laboratory materials ............................................................. 44
Market for immunochemistry diagnostic .............................................................................. 44
Markets for tissue diagnostics ............................................................................................ 44
Molecular diagnostic markets according to therapeutic areas ........................................... 44
Genetic disorders ............................................................................................................. 45
Prenatal testing ............................................................................................................... 46
Cancer............................................................................................................................ 46
Potential markets for cancer diagnosis according to type of cancer .................................... 47
Infectious diseases ........................................................................................................... 48
Sexually transmitted diseases....................................................................................... 50
Hospital-acquired infections.......................................................................................... 50
Testing for HIV drug resistance ..................................................................................... 51
Potential markets for avian influenza diagnostics ............................................................ 51
Cardiovascular diseases .................................................................................................... 52
Neurological disorders ...................................................................................................... 52
Food testing .................................................................................................................... 52
Screening of blood for transfusion ...................................................................................... 53
Tissue typing for transplantation ........................................................................................ 53
Molecular diagnostic markets relevant to pharmaceutical industry ................................... 53
Molecular diagnosis and personalized medicine markets........................................................ 53
Growth of markets relevant to personalized medicine ........................................................... 53
Marketing opportunities according to geographic areas .................................................... 54
Unmet needs in molecular diagnostics ............................................................................... 55
Major market trends .......................................................................................................... 55
Markets according to home-brew and FDA-approved tests .................................................... 55
Decentralization of molecular diagnostics ............................................................................ 56
Point-of-care testing......................................................................................................... 56
Development of personalized medicine ............................................................................... 57
Cost of sequencing the human genome.......................................................................... 57
Cost of genotyping ...................................................................................................... 58
Marketing companion diagnostics for personalized medicine ............................................. 58
Development of low-cost tests ........................................................................................... 59
Simplification of test procedures ........................................................................................ 59
Increasing role of proteomics in clinical diagnostics .............................................................. 59
Forensic and legal applications .......................................................................................... 60
Veterinary molecular diagnostics ........................................................................................ 60
Marketing strategies .......................................................................................................... 60
Role of alliances in commercialization of molecular diagnostics .............................................. 61
Acquisitions vs collaborations ....................................................................................... 61
Analysis of collaborations in molecular diagnostics .......................................................... 64
Licensing of the technologies ........................................................................................ 65
Strategies related to laboratory facilities and technologies .................................................... 65
Strategies relevant to the healthcare system ....................................................................... 66
Cost-Benefit studies .................................................................................................... 66
Genetic susceptibility testing ........................................................................................ 66
Preventive medicine strategies ..................................................................................... 67
Targeting treatable and common diseases...................................................................... 67
Information/education ...................................................................................................... 67
Physician education ..................................................................................................... 67
Patient education ........................................................................................................ 68
European diagnostic information platform ...................................................................... 68
Regulatory strategies ....................................................................................................... 69
Merger of in vitro and in vivo diagnostics ............................................................................ 69
Integration of diagnostics with therapeutics ........................................................................ 69

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Diagnostic applications in clinical trials ............................................................................... 69


Prospects for development of new technologies ................................................................ 70
Drivers for the development of molecular diagnostics ........................................................... 70
Factors slowing the development of molecular diagnostics .................................................... 70
Government support of research relevant to molecular diagnostics ........................................ 71
Cost of sequencing the human genome.......................................................................... 71
European projects for improving molecular diagnostics ......................................................... 73
European Consortium for developing new DNA analysis tools ............................................ 73
EU project for improvement of IVD tools procedures ....................................................... 74
Genetic knowledge parks in the UK ............................................................................... 74
Molecular diagnostic opportunities in defense against bioterrorism ......................................... 74
Molecular diagnostics for food safety .................................................................................. 75
POC diagnostics for the developing countries ....................................................................... 75

14. Companies involved in molecular diagnostics ..................................... 76


Introduction ...................................................................................................................... 76
Major players in molecular diagnostics .............................................................................. 76
Profiles of selected companies........................................................................................... 77
Collaborations.................................................................................................................. 464

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13-1: Share of in vitro diagnostics in the global diagnostic market 2011-2021 .......................... 39
13-2: Molecular diagnostics markets according to technologies from 2011-2021 ....................... 39
13-3: PCR market 2011-2021 ............................................................................................. 40
13-4: Molecular diagnostics markets according to applications 2011-2021................................ 45
13-5: Markets in 2011 for tests to screen healthy persons for genetic disorders ........................ 46
13-6: Markets in 2011 for molecular diagnostic screening tests for cancer ................................ 47
13-7: Molecular diagnostic markets for selected cancers 2011-2021 ........................................ 47
13-8: Markets value in 2011 for molecular diagnostic screening for infections ........................... 49
13-9: Future markets for molecular diagnosis of infections 2012-2016..................................... 49
13-10: Future markets for HAI diagnostics 2012-2016 ........................................................... 50
13-11: Growth of markets relevant to personalized medicine 2011-2021 ................................. 54
13-12: Molecular diagnostic markets according to geographical areas 2011-2021 ..................... 54
13-13: Molecular diagnostic markets according to home-brew and approved tests .................... 56
13-14: Marketing strategies for molecular diagnostics ........................................................... 60
13-15: Acquisitions of molecular diagnostic companies .......................................................... 61
13-16: Advantages of the integration of diagnostics with therapeutics ..................................... 69
14-1: Top ten players in molecular diagnostics ..................................................................... 76
14-2: Collaborations of companies in molecular diagnostics .................................................. 464

Figures
Figure 13-1: Unmet needs in applications of molecular diagnostics .................................................. 55
Figure 13-2: Proportion of various areas in molecular diagnostic collaborations ................................. 65

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