Diagnostics and Therapeutics for Genetic Diseases

Published - Apr 2006| Analyst - Amy Brock| Code - BIO056A
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Report Highlights

  • The U.S. market for therapeutics and diagnostics for genetic diseases reached $4.8 billion in 2005 and is expected to grow at an average annual rate of 8.7%, reaching $7.3 billion by 2010.
  • Transfusions and dialysis comprised 44% of the total market in 2005 and are projected to grow at an annual rate of 8.0%.
  • Pharmaceuticals for genetic disease treatment reached $2.7 billion in 2005. They are expected to grow at an average annual rate of 9.4% to reach a projected $2.7 billion by 2010.
  • The market for diagnostic testing reached $663.6 million in 2005. It is projected to grow at an annual rate of 9.3% to reach a projected $1036.7 million in 2010.
  • The market for transplants to treat genetic diseases was $280.6 million in 2005 and is expected to grow at an average annual rate of 8.2% to reach a projected $416.1 million in 2010.


This important BCC Research study determines the current status of genetic disease therapies and assesses the growth potential of the industry in the United States over a five-year period from 2005 to 2010. For each single gene disease, the analysis examines the current diagnostic and therapeutic options and the projected market through 2010. It also identifies up-and-coming developments in the pharmaceutical, transplant, and transfusion industries.


This timely study:

  • Examines common genetic diseases that result from a single mutation, namely Cystic Fibrosis, Down Syndrome, Duchenne and Becker Muscular Distrophy, Fragile X Syndrome, Hemophilias, Polycystic Kidney Disease, Sickle Cell and related anemias, and Thalassemias
  • Outlines the genetic causes, common mutations, diagnostic methods and disease pathology for each of the most frequent monogenic diseases
  • Discusses current and emerging treatments, and analyzes the markets for each, with forecasts projected through 2010. Treatment markets include various types of pharmaceutical agents, transplants, and transfusions
  • Profiles major companies and their market shares
  • Evaluates significant patents
  • Presents an outlook on future directions and challenges.


The market assessments provided have been assembled based on publicly available information from January 2003 up to and including February 2006. The base year for this report is 2005 and forecast data are provided through 2010. In cases where data for 2005 were not available, figures were extrapolated from 2004 statistics, half-year figures for 2005 and historical trends between 2001 and 2004. Market figures are based on current dollars and inflation is not computed into the projection figures.

The information contained in this report has been assembled from both primary and secondary data. Primary research was conducted via telephone interviews with industry professionals, research scientists, physician-researchers and laboratory heads to discover the most recent developments in their fields of interest. Secondary data was collected via a comprehensive search of the scientific, peer-reviewed literature, clinical trial reports and databases, industry trade media, company websites, annual reports and industry press releases.


Amy Brock, Ph.D. has over ten years of research experience working at the interface of the biological sciences, bioengineering and biophysics. Trained at the Massachusetts Institute of Technology and Harvard University, she holds a B.S. and Ph.D. in biomedical science. She is the author of B-204, Pharmacogenomics: New Technologies in the Development of Personalized Therapies and B-213, Kinase Inhibitors in Clinical Use.

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