Description
The Market for Prenatal, Newborn and Carrier Genetic Testing
The Market for Prenatal, Newborn and Carrier Genetic Testing discusses the technologies and tests used in chromosomal analysis and in the diagnosis of inherited disorders and the detection of carriers of inherited diseases. The growing global genetic testing laboratory services market is discussed, including:
- carrier testing
- prenatal testing
- newborn screening
- neonatal/pediatric testing
- testing for adult onset genetic disorders
The growing number of genetic tests has been made possible by advances in technology, including advances in chromosomal analysis – from traditional karyotyping to fluorescence in situ hybridization (FISH), and then to chromosomal microarrays and next generation sequencing. Detection of single gene mutations has been made possible with FISH and polymerase chain reaction (PCR) technology, and is moving into even new possibilities with sequencing based tests that can evaluate large numbers of genes simultaneously. The recent introduction of noninvasive prenatal testing (NIPT) has made it possible to perform prenatal screening of fetuses without the need for invasive procedures. The technologies used for newborn screening discussed in the report include:
- Karyotyping
- Fluorescence in situ Hybridization
- Chromosomal Microarrays
- Polymerase Chain Reaction and Other Nucleic Acid Amplification Technologies
- DNA Sequencing
- Mass Spectrometry
- Conventional versus Non-Invasive Prenatal Testing
The Market for Prenatal, Newborn and Carrier Genetic Testing provides the world markets for prenatal, newborn, postnatal, and carrier genetic testing for 2014 to 2019. In addition, company revenues are provided for the previous three years. Further, this report includes financial information on deals involving companies in the molecular diagnostic inherited disease/prenatal testing field, summarized within report tables.
Prenatal testing can be used to identify fetuses with chromosomal abnormalities or genetic mutations that would result in the birth of an affected newborn. Women who are experience recurrent miscarriages can be tested to determine if there is a genetic cause, if their fetuses could not survive due to an inherited disorder. Children may also be tested, often to identify the cause of developmental or intellectual delay. These and other applications of inherited disease testing are discussed in the report.
The report also discusses
- Genetic Testing Services Market
- Diagnostic Kits
Currently in vitro diagnostic companies are developing or marketing molecular diagnostic kits to clinical laboratories, and also many clinical laboratories have developed laboratory developed tests (LDTs) and are offering genetic testing services to aid physicians as they diagnose patients with these genetic disorders. Other applications of genetic testing, including preimplantation genetic screening (PGS) and preimplantation genetic diagnosis (PGD) assays used before in vitro fertilization, and also the direct-to-consumer genetic testing market, are discussed as well.
Inherited disease testing was already a large market, but the potential for rapid growth has attracted companies and investors. The report highlights recent activities in this rapidly evolving market. Leading competitors and product developers are listed in the manufacturer profiles. The profiled companies include:
- 23andMe, Inc.
- AB SCIEX (A Danaher Corporation Company)
- Abbott Laboratories
- Affymetrix, Inc.
- Agena Bioscience Inc.
- Agilent Technologies Inc.
- Ambry Genetics Corp.
- ARUP Laboratories
- Astra Biotech GmbH
- Asuragen, Inc.
- Athena Diagnostics, Inc. (A Quest Diagnostics Business)
- AutoGenomics, Inc.
- Berry Genomics Co., Ltd.
- BGI-Shenzhen
- Bio-Rad Laboratories, Inc.
- Bio-Reference Laboratories, Inc. (BRLI)
- Centogene AG
- Chromsystems Instruments & Chemicals GmbH
- Claritas Genomics, Inc.
- Color Genomics, Inc.
- CombiMatrix Corporation
- Counsyl, Inc.
- Courtagen Life Sciences, Inc.
- GenapSys
- Gene by Gene, Ltd.
- Genection, Inc. (An Invivoscribe Company)
- GeneDx
- GenePeeks, Inc.
- Genesis Genetics
- Genetadi Biotech S.L.
- Genetic Technologies Limited / Phenogen Sciences, Inc. (U.S. Division)
- GenMark Diagnostics, Inc.
- Genoma Group
- Genomed AG
- GenPath / GenPath Women’s Health
- Good Start Genetics, Inc.
- Hologic, Inc.
- Illumina, Inc.
- Innovations Exchange Pte Ltd (INEX) and iGene™ Diagnostics Pte Ltd (an INEX Company)
- Invitae Corporation
- Laboratory Corporation of America (LabCorp) Integrated Genetics
- Life Technologies Corporation (Acquired by Thermo Fischer Scientific Inc.)
- LifeCodexx AG (Subsidiary of GATC Biotech AG)
- Multiplicom NV
- Myriad Genetics, Inc.
- Natera, Inc.
- NewGene Ltd.
- NIPD Genetics, Ltd.
- Oxford Gene Technology
- Parabase Genomics
- Pathway Genomics Corporation
- PerkinElmer, Inc.
- Premaitha Health
- Progenity, Inc.
- QIAGEN N.V.
- Quest Diagnostics
- Ravgen
- Recombine, Inc.
- Reproductive Genetics Institute
- Reprogenetics
- Roche
- Sebia, Inc.
- Sequenom, Inc.
- Sophia Genetics
- SpOtOn Clinical Diagnostics Limited
- SynapDx Corporation
- Transgenomic, Inc.
The information presented in this report is derived from publicly available information sources such as company reports and announcements, government reports and databases, medical organization reports, medical associations, and other publications. The analysis is based on the author’s industry knowledge combined with literature searches and discussions with industry professionals and experts in the areas of point-of-care tests, decentralized healthcare and healthcare economics.
Table of Contents
ONE: EXECUTIVE SUMMARY
Overview
Scope and Methodology
Market Overview
Prognosis for Growth
TWO: INTRODUCTION
Overview of Genetic Mutations and Inherited Disorders
Why Test? Clinical Utility of Testing for Genetic Disorders
Point-of-View
THREE: TECHNOLOGY – PRENATAL AND POSTNATAL TESTING, CARRIER SCREENING FOR INHERITED DISORDERS
Technologies Used for Newborn Screening
Karyotyping
Fluorescence in situ Hybridization
Chromosomal Microarrays
Polymerase Chain Reaction and Other Nucleic Acid Amplification Technologies
DNA Sequencing
Mass Spectrometry
Prenatal Testing Technologies – Conventional versus Non-Invasive Prenatal Testing
FOUR: SELECTED INHERITED DISORDERS
Chromosomal Abnormalities
Mitochondrial Disease
Cystic Fibrosis
Ashkenazi Jewish Genetic Panel
Developmental or Intellectual Delay Disorders
Autism Spectrum Disorders
Glycogen Storage Diseases
Lysosomal Storage Disorders
Thrombophilia
Adult Onset Disorders
Other Inherited Disorders
FIVE: MARKET SEGMENTS – PRENATAL AND POSTNATAL TESTING FOR INHERITED DISORDERS
Carrier Screening
Miscarriage/Recurrent Pregnancy Loss
Prenatal Testing
Preimplantation Genetic Screening (PGS) and Preimplantation Genetic Diagnosis(PGD)
Newborn Screening
Pediatric Testing for Developmental or Intellectual Delay Disorders
Direct-to-Consumer Genetic Testing Market
SIX: DEALS – INHERITED DISEASE TESTING
Investments and Financing Agreements for Inherited Disease Testing Companies and
Laboratories
Agreements with Other Companies
Acquisitions of Prenatal/Postnatal Genetic Testing Companies and Laboratories
Selected Other Agreements
SEVEN: MARKET DRIVERS AND CHALLENGES – CARRIER, PRENATAL AND POSTNATAL TESTING
Legislation Mandating Newborn Screening
Large Number of Inherited Disorders/ Many Small Volume Rare Disease Tests
Laboratory Developed Tests and the FDA
Ethical Issues and Concerns about Genetic Discrimination
Reimbursement
Future Prospects
EIGHT: MARKET ANALYSIS
Genetic Testing Market Overview – Chromosomal Analysis and Inherited Disorders . 120
Diagnostic Market (Kits) for Inherited Disorders – Market Segments
Cystic Fibrosis Market Share Analysis
Clinical Laboratory Test Services Market – Market Segments
NINE: COMPANY PROFILES: DIAGNOSTIC COMPANIES IN PRENATAL, NEWBORN, AND OTHER INHERITED DISEASE TESTING
23andMe, Inc.
AB SCIEX (A Danaher Corporation Company)
Abbott Laboratories
Recent Revenue History
Company Overview – Focusing on Diagnostics
Affymetrix, Inc.
Recent Revenue History
Company Overview
Agena Bioscience Inc.
Agilent Technologies Inc.
Recent Revenue History
Company Overview
Ambry Genetics Corp.
ARUP Laboratories
Astra Biotech GmbH
Asuragen, Inc.
Athena Diagnostics, Inc. (A Quest Diagnostics Business)
AutoGenomics, Inc.
Berry Genomics Co., Ltd.
BGI-Shenzhen
Bio-Rad Laboratories, Inc.
Recent Revenue History
Company Overview
Bio-Reference Laboratories, Inc. (BRLI)
Recent Revenue History
Company Overview
Centogene AG
Chromsystems Instruments & Chemicals GmbH
Claritas Genomics, Inc.
Color Genomics, Inc.
CombiMatrix Corporation
Recent Revenue History
Company Overview
Counsyl, Inc.
Courtagen Life Sciences, Inc.
GenapSys
Gene by Gene, Ltd.
Genection, Inc. (An Invivoscribe Company)
GeneDx
GenePeeks, Inc.
Genesis Genetics
Genetadi Biotech S.L
Genetic Technologies Limited / Phenogen Sciences, Inc. (U.S. Division)
GenMark Diagnostics, Inc.
Recent Revenue History
Company Overview
Genoma Group
Genomed AG
GenPath / GenPath Women’s Health
Good Start Genetics, Inc.
Hologic, Inc.
Recent Revenue History
Company Overview
Illumina, Inc.
Recent Revenue History
Company Overview
Innovations Exchange Pte Ltd (INEX) and iGene™ Diagnostics Pte Ltd (an INEX Company)
Invitae Corporation
Recent Revenue History
Company Overview
Laboratory Corporation of America (LabCorp) Integrated Genetics
Recent Revenue History
Company Overview
Life Technologies Corporation (Acquired by Thermo Fischer Scientific Inc.)
Recent Revenue History
Company Overview
LifeCodexx AG (Subsidiary of GATC Biotech AG)
Multiplicom NV
Myriad Genetics, Inc.
Recent Revenue History
Company Overview
Natera, Inc.
NewGene Ltd.
NIPD Genetics, Ltd.
Oxford Gene Technology
Company Overview
Parabase Genomics
Pathway Genomics Corporation
PerkinElmer, Inc.
Recent Revenue History
Company Overview
Premaitha Health
Progenity, Inc.
QIAGEN N.V.
Recent Revenue History
Company Overview
Quest Diagnostics
Recent Revenue History
Company Overview
Ravgen
Recombine, Inc.
Reproductive Genetics Institute
Reprogenetics
Roche
Recent Revenue History
Company Overview
Sebia, Inc.
Sequenom, Inc
Recent Revenue History
Company Overview
Sophia Genetics
SpOtOn Clinical Diagnostics Limited
SynapDx Corporation
Transgenomic, Inc.
Recent Revenue History
Company Overview
LIST OF EXHIBITS
ONE: EXECUTIVE SUMMARY
Table 1-1: Global Laboratory Services Market for Chromosome Analysis and Inherited
Disease Genetic Testing, 2014 and 2019
THREE: TECHNOLOGY – PRENATAL AND POSTNATAL TESTING, CARRIER SCREENING FOR INHERITED DISORDERS
Table 3-1: Selected Examples of Companies Marketing Products for Newborn Screening for Inherited Disorders
Table 3-2: Selected Examples of Companies Marketing FISH Tests or Probes for Inherited Disorders
Table 3-3: Selected Companies and Clinical Laboratories Offering Microarray-Based Tests for Inherited Disorders
Table 3-4: Selected Companies and Clinical Laboratories Offering PCR-Based Tests for Inherited Disorders
Table 3-5: Selected Companies and Clinical Laboratories Offering Sequencing-Based
Tests for Inherited Disorders
Table 3-6: Selected Companies and Clinical Laboratories Offering Mass Spectrometry- Based Tests for Newborn Screening or Inherited Disorders
Table 3-7: Selected Companies and Clinical Laboratories Developing and/or Marketing Non-Invasive Prenatal Tests (NIPT)
FOUR: SELECTED INHERITED DISORDERS
Table 4-1: Selected Inherited Disorders
Table 4-2: Selected IVD Companies and Clinical Laboratories with Tests for Chromosomal Abnormalities
Table 4-3: Selected IVD Clinical Laboratories with Tests for Mitochondrial Diseases
Table 4-4: Selected IVD Companies Developing and/or Marketing Molecular Diagnostic IVD Kits for Cystic Fibrosis and Other Inherited Disorders Caused by Single Gene Mutations
Table 4-5: Selected Companies with CLIA Laboratories and Other Clinical Laboratories Offering Molecular Diagnostic Tests for Inherited Disorders Caused by Single Gene Mutations
Table 4-6: Selected Companies and Clinical Laboratories with Genetic Tests for Autism Spectrum Disorders
FIVE: MARKET SEGMENTS – PRENATAL AND POSTNATAL TESTING FOR INHERITED DISORDERS
Table 5-1: Recommended Uniform Screening Panel for Newborn Screening(March 2015)
SIX: DEALS – INHERITED DISEASE TESTING
Table 6-1: Selected Investments and Other Financing Agreements for Diagnostic Companies and Clinical Laboratories in Inherited Disease Testing
Table 6-2: Selected Agreements between Prenatal/Neonatal/Inherited Disease Diagnostics Companies and Other Diagnostic Companies or Clinical Laboratories
Table 6-3: Selected Agreements between Inherited Disease Diagnostics Companies and Pharmaceutical or Biopharmaceutical Companies
Table 6-4: Selected Agreements between Two Companies in Inherited Disease Testing
Table 6-5: Selected Agreements between Diagnostic Companies in Inherited Disease
Testing and Other Companies or For Profit Organizations
Table 6-6: Selected Acquisitions of or by Companies in Inherited Disease Testing
Table 6-7: Selected Agreements between Inherited Disease Testing Companies and Academic or Other Non-Profit Organizations
SEVEN: MARKET DRIVERS AND CHALLENGES – CARRIER, PRENATAL AND POSTNATAL TESTING
Table 7-1: Selected Clinical Laboratories Offering Inherited Disease Tests
Table 7-2: Selected IVD Companies Developing/Marketing Chromosome Analysis or Inherited Disease Test Kits to Clinical Laboratories
EIGHT: MARKET ANALYSIS
Table 8-1: Global Markets for Chromosome Analysis and Inherited Disease Genetic
Testing, 2014 and 2019 (Global Market for Diagnostic Kits, Global Laboratory Services Market)
Table 8-2: Geographical Distribution of Laboratories Performing Genetic Testing Services (United States, Europe, Rest of World, Total)
Table 8-3: Global Market for Diagnostic Kits for Chromosome Analysis and Inherited Disease Genetic Testing, 2014 and 2019 – Market Segments by Type of Inherited Disorder (Chromosome Analysis, Cystic Fibrosis, Thrombophilia, Other,Total Market)
Figure 8-1: Estimated Competitive Market Shares for Diagnostic Companies in the Cystic Fibrosis Test Market, 2014
Table 8-4: Global Clinical Laboratory Services Market by Market Segments – Carrier
Screening, Prenatal Testing, Newborn Screening, Neonatal and Pediatric Testing, and Adult Onset Disorders, 2014-2019
