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Molecular Diagnostics in Genetic Testing - Product Image

Molecular Diagnostics in Genetic Testing

  • ID: 2622745
  • November 2013
  • Region: Global
  • 185 Pages
  • TriMark Publications

FEATURED COMPANIES

  • Abbott Laboratories
  • EntroGen, Inc
  • Hologic, Inc
  • Luminex Corporation
  • NetBio
  • Roche Diagnostics
  • MORE

Molecular diagnostics in genetic testing brings advanced analytical techniques to the diagnosis and treatment of genetic disorders. The confluence of breakthroughs in genomics and proteomics and the development of microarray devices to measure analytes in the blood and various body tissues are driving significant growth in the segment.

Major developments include the integration of specialty labs and gene expression profiling into clinical practice, the introduction and rapid growth of cell-free fetal DNA prenatal testing, the advancement of companion diagnostics for drug development, the widespread installed base of automated instruments for molecular testing and the development of personalized medicine. The genetic testing space is one of the most profitable sectors of molecular diagnostics and is expected to be an area of high growth and corporate change throughout the forecast period.

This report describes the emerging field of molecular diagnostics in genetic testing. This review analyzes the size and growth of the molecular diagnostics in genetic testing market, including the factors that influence the various market segments within it and the dollar volume of sales, both in the United States and worldwide. Moreover, this analysis profiles the leading companies focused on the molecular diagnostics for genetic testing sector.

FEATURED COMPANIES

  • Abbott Laboratories
  • EntroGen, Inc
  • Hologic, Inc
  • Luminex Corporation
  • NetBio
  • Roche Diagnostics
  • MORE

1. Overview
1.1 Statement of Report
1.2 About this Report
1.3 Scope of the Report
1.4 Objectives
1.5 Methodology
1.6 Executive Summary

2. Role of Molecular Diagnostics and Opportunities in the Genetic Testing Sector
2.1 Introduction to Molecular Diagnostics for Genetic Testing
2.1.1 Definition and Scope of Molecular Genetic Testing within this Report
2.1.2 Key Functions of Molecular Genetic Testing
2.1.3 Overview of Molecular Genetic Testing Laboratories
2.2 Diagnostic Testing of Genetic Disorders
2.2.1 Review of Genetic Disorders: Characterizations of Abnormalities and Patterns of Inheritance
2.2.2 Common Genetic Disorders
2.3 Carrier Testing for Genetic Disorders
2.4 Preimplantation Genetic Diagnosis and Preimplantation Genetic Screening
2.5 Prenatal/In utero Genetic Testing
2.6 Newborn Genetic Screening Tests
2.6.1 Molecular Diagnostics for Newborn Genetic Testing
2.7 Pre-Symptomatic and Predictive Testing for Adult Onset Disorders
2.8 Pharmacogenetics and Pharmacogenomics
2.8.1 Current Applications for Pharmacogenetics and Pharmacogenomics
2.8.1.1 Warfarin and VKORC1 and CYP2C9 Testing
2.8.1.2 Trastuzumab and Lapatinib and HER2 Overexpression Testing
2.8.1.3 Clopidogrel and CYP2C19 Testing
2.8.1.4 Thiopurines and TPMT Testing
2.8.1.5 Cetuximab and EGFR Expression and KRAS Mutation Testing
2.8.1.6 Irinotecan and UGT1A1*28 Testing
2.8.1.7 Abacavir and HLA-B*5701 Testing
2.8.1.8 Carbamazepine and HLA-B*1502 Testing
2.9 Tissue and Blood Typing
2.9.1 HLA Determination
2.9.2 Rhesus D Factor Determination
2.10 Parentage/Relationship Testing (Paternity Testing)
2.11 Genealogical DNA Testing
2.12 Criminal and Forensics Testing

3. Introduction to Molecular Diagnostics Technology for Genetic Testing
3.1 Introduction to Genomics and Its Opportunity
3.1.1 Science Background: Structures and Functions of Nucleic Acids and Proteins
3.1.2 The Human Genome
3.1.3 Genomics: Opening Opportunities in Molecular Diagnostics
3.2 Genetic Variability and Disease
3.3 Impact of the Human Genome Project on Molecular Diagnostics
3.4 Key Considerations for Molecular Diagnostics
3.5 Molecular Diagnostics in the Post-Genomic Era
3.6 Advances in Molecular Diagnostics Technologies
3.7 Molecular Diagnostics Testing Technologies and Platforms
3.7.1 Amplification Technologies
3.7.1.1 PCR and PCR Derivative Platforms
3.7.1.2 Multiple Displacement Amplification
3.7.1.3 Multiple Annealing and Looping-Based Amplification Cycles
3.7.1.4 Whole Genome Amplification
3.7.1.5 Nucleic Acid Sequence-based Amplification
3.7.2 Detection of Amplified Gene Products
3.7.2.1 High Resolution Melting Analysis
3.7.2.2 Microparticle-based Flow Cytometry
3.7.3 DNA and Oligonucleotide Microarrays and Chips
3.7.3.1 Array Comparative Genomic Hybridization
3.7.4 Gene Sequencing
3.7.4.1 Sanger Sequencing
3.7.4.2 Next Generation Sequencing
3.7.5 Fluorescence In situ Hybridization

4. Business Landscape for Molecular Diagnostics in Genetic Testing
4.1 Market Analysis: Size, Growth, Share and Competitors
4.1.1 Worldwide Genetic Testing Markets
4.1.2 Market Structure and Competitive Situation
4.1.3 Primary Competitors
4.1.4 Commercialization Strategies for Molecular Diagnostic Products
4.1.5 Market Penetration Strategies for Genetic Testing
4.2 Growing Genetic Testing Market Segments
4.2.1 Personalized Medicine and Companion Diagnostics Market
4.2.2 Predictive Molecular Diagnostics Market
4.2.3 Parallel Genetic Tests for Drug Development
4.2.4 Direct-to-Consumer Genetic Testing Market
4.2.5 Detecting Genetic Disorders
4.2.6 Prenatal Screening
4.2.7 Neonatal Screening
4.2.8 Forensic Testing
4.2.9 Blood and Tissue Typing
4.2.10 Parentage Testing
4.2.11 DNA Sequencing
4.3 Market Drivers and Restraints
4.3.1 Market Drivers
4.3.2 Market Restraints
4.4 Market and Technology Trends
4.4.1 Market Trends
4.4.2 Technology Trends
4.5 Industry Challenges and Strategic Recommendations
4.6 Recent Industry Activity
4.6.1 M&A Activity
4.6.2 License Agreements and Partnerships
4.7 Business Models and Requirements for Successful Products in the Genetic Testing Industry
4.7.1 Commercial Manufacturing of Genetic Testing Products: Requirements
4.7.1.1 Regulatory Requirements
4.7.1.2 Manufacturing Process Scale
4.7.1.3 In-House Manufacturing
4.7.1.4 Contract Manufacturing: Commercial and Academic

5. Molecular Diagnostic Assays and Select Laboratories for Genetic Testing on the Market
5.1 Select Diagnostic Tests for Genetic Disorders
5.1.1 CombiMatrix Diagnostics’ DNAarray Pediatric Microarray Oligo 105K
5.1.2 GeneDx’s Genetic Testing for Hereditary Disorders
5.1.3 Hologic’s Factor V Reagents
5.1.4 Progenika’s FH Test
5.2 Carrier Tests for Genetic Disorders
5.2.1 Abbott Molecular’s Cystic Fibrosis Genotyping Assay
5.2.2 Counsyl’s Universal Genetic Test
5.2.3 GenPath’s InheriGen and InheriGen Plus
5.2.4 Good Start Genetics’ Good Start Select
5.2.5 Hologic’s InPlex CF Molecular Test
5.2.6 Integrated Genetic’s Inheritest Carrier Screen
5.2.7 Luminex’s xTAG Cystic Fibrosis v2 Assays
5.2.8 Natera’s Natera One Multi-Disease Genetic Carrier Screening Panel
5.2.9 Sequenom’s Heredi-T Cystic Fibrosis Carrier Screen Test
5.3 Pre-implantation Genetic Tests
5.3.1 Natera’s Preimplantation Genetic Diagnosis Test
5.4 Prenatal/In utero Molecular Genetic Screening Tests
5.4.1 Cell-free Fetal DNA Testing
5.4.1.1 Ariosa Diagnostics’ Harmony Prenatal Test
5.4.1.2 Natera’s Panorama
5.4.1.3 Sequenom’s MaterniT21 PLUS Test
5.4.1.4 Verinata Health’s verifi Prenatal Test
5.4.2 Molecular Cytogenetic Tests
5.4.2.1 Abbott Molecular’s AneuVysion (Vysis CEP 18/X/Y-alpha satellite/LSI 13/21) Multicolor DNA
Probe Panel
5.4.2.2 CombiMatrix Diagnostics’ DNAarray™ Prenatal Microarrays
5.4.2.3 Signature Genomics’ Signature Precision Panel I Prenatal
5.4.2.4 Signature Genomics’ Signature PrenatalChip TE (Targeted Enhanced) Microarray
5.4.2.5 Signature Genomics’ Signature PrenatalChip OS Microarray
5.5 Newborn Genetic Screening Tests
5.5.1 Screening for Cystic Fibrosis with Molecular Diagnostic Assays
5.5.2 Screening for SCID with the TREC Assay
5.5.2.1 PerkinElmer Genetics
5.6 Predictive and Presymptomatic Tests for Adult Onset Disorders
5.6.1 Sequenom’s RetnaGene AMD Test for Age-Related Macular Degeneration
5.7 Pharmacogenomics and Pharmacogenetics
5.7.1 Warfarin Sensitivity
5.7.2 EntroGen’s Mutation Analysis and Genotyping Kits
5.7.3 Qiagen’s Therascreen KRAS RGQ PCR Kit
5.7.4 Roche’s COBAS AmpliPrep/COBAS TaqMan HLA-B*5701 Screening Test
5.7.5 Genomic Health Oncotype Tests
5.7.6 Life Technologies
5.7.6.1 Life Technologies’ Pervenio Lung RS Test
5.7.7 Nanosphere’s Verigene Human Genetic Tests
5.7.8 Agendia’s SYMPHONY Personalized Breast Cancer Profile
5.7.9 CardioDx’s Corus CAD
5.7.10 Veracyte’s Afirma Thyroid FNA Analysis
5.8 Tissue and Blood Typing Tests
5.8.1 Immunocor’s LIFECODES HLA Typing Kits
5.8.1.1 LIFECODES HLA SSO Typing Kits
5.8.1.2 LIFECODES HLA SSP Typing
5.8.2 Life Technology/Invitrogen’s AllSet+ Gold HLA Typing Kits
5.8.3 Life Technology/Invitrogen’s SeCore HLA Sequence-Based Typing Kits
5.8.4 One Lambda’s LABType SSO
5.8.5 Progenika’s BLOODchip
5.8.6 Sequenom’s SensiGene Fetal RhD Genotyping Test
5.9 Paternity Tests
5.9.1 Natera’s Non-Invasive Prenatal Paternity Test
5.10 Criminal and Forensics Tests
5.10.1 IntengenX’s RapidHIT 200 Human DNA Identification System
5.10.2 NetBio’s and GE Healthcare Life Sciences’ DNAscan Rapid DNA Analysis System
5.10.3 Sorenson Forensics
5.11 Direct-to-Consumer Genetic Tests
5.11.1 23andMe
5.11.2 Lumigenix
5.11.3 DNA DTC
5.11.4 Family Tree DNA
5.11.5 Gene by Gene
5.11.6 AncestryDNA Test
5.12 Select Laboratories Providing Genetic Testing Services
5.12.1 Ambry Genetics
5.12.2 ARUP Laboratories
5.12.3 GeneDx
5.12.4 LabCorp and Integrated Genetics
5.12.5 Mayo Medical Laboratories
5.12.6 Medical Genetics Laboratory at Baylor College of Medicine
5.12.7 Pathway Genomics
5.12.8 Quest Diagnostics
5.13 Major Technology Platforms for Genetic Testing on the Market
5.14 Product Launches and Introductions
5.14.1 Ariosa Diagnostics Introduces Y-Chromosome Analysis Test Option
5.14.2 Ariosa Diagnostics Expands Harmony Prenatal Test to Twin Pregnancies and Launches New X,Y
Analysis Test
5.14.3 Natera Launches Panorama
5.14.4 Rubicon Genomics Launched Its New ThruPlex Technology and Partners with Agendia
5.14.5 Sequenom Center for Molecular Medicine Launches New Cystic Fibrosis Carrier Screen Test
5.14.6 Sequenom Launches the MaterniT21 PLUS
5.14.7 Next Generation Sequencing with Roche’s GS Junior System Approved for Tissue Typing

6. Reimbursement and Billing Landscape for Molecular Diagnostic Genetic Testing
6.1 Overview
6.2 Trends in Healthcare Reimbursement Practices
6.2.1 Molecular Genetics Testing Reimbursement
6.3 Medicare Reimbursement Program
6.4 Medicare Billing Procedure
6.5 CPT Coding Rules for Molecular Diagnostics
6.5.1 Former Coding Rules for Molecular Diagnostics
6.5.2 Current Coding Rules for Molecular Diagnostics
6.5.2.1 Gapfilling
6.5.2.2 Reimbursement Delays for Molecular Diagnostics
6.6 Revenue Threats
6.6.1 Medicare Payment Exceptions
6.6.2 Three Areas for Denial of Claims
6.7 Bundled Payments for Care Improvement Initiative

7. Regulatory Issues for Genetic Testing
7.1 U.S. Food and Drug Administration
7.1.1 FDA Labeling Requirements
7.1.2 U.S. Government Regulation of Medical Devices
7.1.3 FDA’s Qualification of Biomarkers
7.1.4 FDA’s Voluntary Genomic Data Submission
7.2 Clinical Laboratory Improvement Act
7.3 CLIA Regulations
7.4 State Licensing for Service Laboratories
7.5 Multivariate Index Assays
7.6 FDA Draft Guidance on In Vitro Companion Diagnostic Devices
7.7 Pre-Market Approval
7.7.1 510(k) Clearance
7.8 De Novo Classification
7.9 Laboratory Developed Tests
7.9.1 Analyte Specific Reagents
7.10 U.S. Patent and Trademark Office
7.11 IRB Approval in Clinical Trials
7.12 CE marking and European In Vitro Diagnostic Device Directive
7.13 Research Use Only Reagents
7.14 Regulatory Issues for Direct-to-Consumer Genetic Tests
7.15 The Genetic Information Nondiscrimination Act of 2008
7.16 Genetic Tests and Medical Records
7.17 Recommendations by the American College of Medical Genetics and Genomics

8. Business Decisions, Strategic Outlook and Recommendations Using Molecular Diagnostic Tests in Genetic Testing
8.1 Key Opportunities in Genetic Testing Development and Commercialization
8.2 What are the Current Obstacles in Molecular Diagnostic Genetic Testing Implementation?
8.3 How are Genetic Testing Products Driven by Business Strategies?
8.4 How might Novel Genetic Test Development Lead to Acquisition Strategies?
8.5 How can Genetic Tests Increase Value in Associated Drug Marketing Plans?
8.6 What Steps can be Taken in the Clinical Phases to Improve the Success Rate of Genetic Tests in Development?
8.7 How can Regulatory Oversight Drive Approval and Adoption of New Technologies?
8.8 What are the Noteworthy Deals?
8.9 How will Platform Technology Companies Enter the Space and Position Themselves for Diagnostic Development?
8.10 Will Pharma Integrate with Diagnostics?
8.11 How will Partnering and M&As Alter the Competitive Landscape?
8.12 How will FDA Regulations Impact New Diagnostic Tests?
8.13 What is Necessary for Incorporating Promising Molecular Tests into Clinical Practice
8.14 What is the Best Type of Business Model for Developing Genetic Testing Biomarkers?
8.15 How have Genetic Biomarkers Provided the Most Benefit in Genetic Testing?
8.16 What are the Most Innovative Methods in Development of Molecular Diagnostic Biomarkers?

9. Company Profiles
9.1 Abbott Laboratories
9.2 Beckman Coulter
9.3 CombiMatrix
9.4 EntroGen, Inc.
9.5 Genmark Diagnostics, Inc.
9.6 Genomic Health
9.7 Hologic, Inc.
9.8 Illumina, Inc.
9.9 IntegenX
9.10 Laboratory Corporation of America Holdings
9.11 Life Technologies Corporation
9.12 Luminex Corporation
9.13 Myriad Genetics, Inc.
9.14 Natera
9.15 NetBio
9.16 PerkinElmer Genetics
9.17 Progenika, Inc.
9.18 Roche Diagnostics
9.19 Sequenom, Inc.
9.20 Signature Genomics
9.21 Spartan Bioscience, Inc.
9.22 Transgenomic, Inc.

Index of Figures

Figure 3.1: Segment of Double-Stranded DNA Showing the Base-Pair Relationship
Figure 3.2: Schematic of Molecular Diagnostics for Studying Gene Expression in Patients
Figure 3.3: The PCR Cycle
Figure 3.4: Multiple Displacement Amplification
Figure 3.5: Using DNA Microassays to Measure Gene Expression
Figure 4.1: Overall Structure of Nucleic Acid Testing Market
Figure 4.2: Segmentation of the Biomarker Development Market
Figure 6.1: Reimbursement for Diagnostics in Healthcare Decision Making
Figure 6.2: MAC Jurisdiction Map, 2012
Figure 7.1: Current Regulations for Laboratory Testing
Figure 7.2: Existing Regulatory Framework for LDTs

Index of Tables

Table 2.1: Common Genetic Disorders
Table 2.2: Recommended Uniform Screening Panel by SACHDNC
Table 2.3: Potential Benefits of Pharmacogenetics
Table 2.4: Select Drugs with Commercially Available Pharmacogenetic Tests
Table 2.5: HLA Allele Nomenclature
Table 2.6: Comparison of HLA Typing Methods
Table 3.1: Key Assay Technologies for Molecular Diagnostics
Table 3.2: Emerging Molecular Diagnostic Technologies
Table 3.3: DNA Microarray Applications
Table 3.4: Companies Involved in Next Generation Sequencing Platforms
Table 3.5: Desired Characteristics for Clinical Versus Discovery Next Generation Sequencing
Table 4.1: Summary of Molecular Diagnostics Testing Sectors
Table 4.2: Global Market for Molecular Diagnostics – Infectious Disease Testing, Cancer Testing and Genetic Testing, 2008-2018
Table 4.3: Global Market for Molecular Diagnostics for Genetic Testing, 2008-2018
Table 4.4: U.S. Market for Molecular Diagnostics – Infectious Disease Testing, Cancer Testing, and Genetic Testing, 2008-2018
Table 4.5: U.S. Market for Molecular Genetic Testing, 2008-2018
Table 4.6: Diagnostic Companies with Existing Pharma Relationships
Table 4.7: Use of Cancer Biomarkers in Drug Development
Table 4.8: Utility of Biomarkers as Companion Diagnostics to Drug Development
Table 4.9: Competitors in the Field of Forensic Testing
Table 4.10: Competitors in the Field of Identity, Family and Paternity Testing
Table 4.11: Comparison of Current Genetic Testing Protocols and Potential Use of Whole Genome Sequencing
Table 4.12: Molecular Diagnostics Market: Market Drivers Ranked in Order of Impact
Table 4.13: Drivers of the Genetic Analysis Market
Table 4.14: Molecular Diagnostics Market: Market Restraints Ranked in Order of Impact
Table 4.15: Total Molecular Genetic Testing Market: Impact of Top Industry Challenges (U.S.)
Table 4.16: The Required Elements of a Manufacturing Facility
Table 4.17: CMO Qualification Audit: Points to Investigate
Table 6.1: Factors Determining Third-Party Payment for Molecular Diagnostic Tests
Table 7.1: Regulatory Rules that Affect the Ability of a Diagnostic Testing Reagent Company to Conduct Business
Table 7.2: Strengths of the 510k Process
Table 7.3: Drawbacks of the 510k Process
Table 8.1: Effect of Regulation on MDx Infectious Disease Market Technology Platforms, 2007 and 2015
Table 8.2: Impediments to Incorporating Promising Molecular Tests into Clinical Practice

- Abbott Laboratories
- Beckman Coulter
- CombiMatrix
- EntroGen, Inc
- Genmark Diagnostics, Inc
- Genomic Health
- Hologic, Inc
- Illumina, Inc
- IntegenX
- Laboratory Corporation of America Holdings
- Life Technologies Corporation
- Luminex Corporation
- Myriad Genetics, Inc
- Natera
- NetBio
- PerkinElmer Genetics
- Progenika, Inc
- Roche Diagnostics
- Sequenom, Inc
- Signature Genomics
- Spartan Bioscience, Inc
- Transgenomic, Inc

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