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Molecular Diagnostics for Inherited Disease Testing: Testing volume, cost per test, and market potential

Gene and chromosome testing for inherited diseases currently represents the third largest molecular diagnostics testing segment in the U.S. Assays in this market address applications in genetic carrier and predisposition testing. Currently, most testing is for prenatal screening and for assessing clinically suspect newborns for various chromosomal abnormalities (e.g., Down’s syndrome, fragile X syndrome). Some testing is used for genetic counseling for couples planning to have children. Such diagnostics test for the presence of carrier states of diseases such as Tay-Sachs disease, sickle-cell anemia, or cystic fibrosis, where a clinical history of these disease conditions exists in their families. Another type of genetic and chromosomal molecular diagnostic testing is that for disease susceptibility, though this is not a major market factor at this time.

This summary report, extracted from Kalorama Information’s U.S. Market for Molecular Diagnostics, (2nd Edition, May 2004), focuses on the technologies and application of molecular diagnostics in the field of inherited disease testing.

The major market effects of new diagnostics—with the potential of a breakthrough product always a possibility—are being seen and are expected to significantly impact the market over the next ten years. The technology trends selected in conjunction with the growing interest in molecular diagnostics and their application to current health priorities (e.g., HIV/AIDS, cancer, sexually transmitted diseases, etc.) present the most informative picture of advances in this field and the markets that result. Market analysis considers various infectious disease diagnostic applications of molecular testing rather than the markets for specific technologies in the U.S. This report does not consider instrumentation, such as thermocyclers, luminometers, sequencers, etc. and their disposable support products. Some mention is made of such instrumentation, but greater emphasis is placed on applications and the technologies that will address those specific applications. The focus of the report is on molecular diagnostics technologies and products with the potential to become first-line methods for use in the clinical laboratory for inherited disease testing, and not for research or genomic data collection and cataloguing. The analysis presented in this report is based on data from a combination of company, government, industry, and institutional and private sources. It includes information from extensive literature reviews, as well as interviews and discussions with experts in the field, including molecular biologists, laboratory medicine professionals, pathologists, research scientists, business development managers and marketing managers.


Overview

Scope and Methodology

Market Context

Exhibit 1: Distribution of Molecular Diagnostics Testing in U.S. 2004

Inherited Disease Testing: Targets and Trends

Exhibit 2: Key Hereditary Diseases: SNP-Related

Exhibit 3: Key Hereditary Diseases: Chromosomal

Products of Note (Home-Brew Testing)

Exhibit 4: Key Home-Brew Molecular Diagnostics Assays
for Inherited Disease Testing

Number of Tests

Exhibit 5: Projected Inherited Disease Testing
by Molecular Diagnostics in U.S. 2003-2013

Exhibit 6: Trending in Projected Number of Inherited Disease Tests
by Molecular Diagnostics in U.S. 2003-2013

Exhibit 7: Trending in Percentage Distribution of Inherited Disease Tests
by Molecular Diagnostics in U.S. 2003-2013

Exhibit 8: Trending in Projected Test Volume
for Molecular Diagnostics in Inherited Disease Testing in U.S. 2003-2013

Exhibit 9: Trending in Projected Test Volume Composition
for Molecular Diagnostics in Inherited Disease Testing in U.S. 2003-2013

Market and Cost per Test Projections, 2003-2013

Exhibit 10: Projected Molecular Diagnostics Inherited Disease Testing
Market Potential in U.S. 2003-2013

Exhibit 11: Trending in Projected Market Potential
for Molecular Diagnostics in Inherited Disease Testing in U.S. 2003-2013

Exhibit 12: Trending in Projected Market Potential Composition
for Molecular Diagnostics in Inherited Disease Testing in U.S. 2003-2013

Exhibit 13: Trending in Projected Estimated Cost Per Test (ECPT)
for Molecular Diagnostics in Inherited Disease Testing in U.S. 2003-2013


Major Competitors

Abbott Diagnostics (Division of Abbott Laboratories)

Affymetrix, Inc.

Applied Biosystems Group (Division of Applera Corporation)

Celera Genomics/Celera Diagnostics  (Division of Applera Corporation)

Cepheid, Inc.

diaDexus, LLC

Illumina, Inc.

Innogenetics NV

Myriad Genetics, Inc.

Nanogen, Inc.

 Orchid BioSciences, Inc.

 Sequenom Genetic Systems  (Division of Sequenom)

Vysis (Subsidiary of Abbott Laboratories)

 

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