遺傳性疾病的診斷與治療動向

遺傳性疾病的診斷與治療動向 是由出版商BCC Research在2006年04月所出版的。 這份英文市場調查報告書包含150 pages 44 tables 價格從美金4850起跳。

簡介

目錄

Abstract

STUDY GOAL AND OBJECTIVES

BCC's goal in conducting this study was to determine the current status of genetic disease therapies and assess the growth potential of the industry in the United States over a 5-year period from 2005 to 2010. For each single gene disease, we examined the current diagnostic and therapeutic options and the projected market through 2010. We also identified up-and-coming developments in the pharmaceutical, transplant, and transfusion industries. Our key objective was to present a comprehensive analysis of the current market and its future direction.

SCOPE AND FORMAT

This report examines common genetic diseases that result from a single mutation. In contrast to more complex multi-gene disorders, such as cancers, heart disease, and diabetes, the genetic underpinnings of monogenic disorders are fairly well characterized. These diseases were among the first to be studied using the tools of modern molecular biology and human genetics. Decades of work have made progress towards the more accurate diagnosis of these diseases. In many cases, new methods of genetic testing have made possible the identification of the disease trait in embryos, fetuses and newborns. Carrier screening can aid potential parents in quantifying the risk of their child inheriting a particular monogenic disease gene. But novel treatments for these diseases have been slower to emerge.

For each of the most frequent monogenic diseases, the report outlines the genetic causes, common mutations, diagnostic methods and disease pathology. Current and emerging treatments are discussed and the markets for each are analyzed, with forecasts projected through 2010. Treatment markets include various types of pharmaceutical agents, transplants, and transfusions.

CONTRIBUTIONS OF THE STUDY AND AUDIENCE

This report will be useful to industry professionals in drug development and medicine, physicians and health care professionals, researchers, laboratory managers and genetic counselors. Investors and venture capitalists interested in genetic testing and therapies for genetic disease will find a detailed and comprehensive analysis of the field and outlook. Technical terms are fully explained, making the report and results accessible to the non-expert.

METHODOLOGY AND INFORMATION SOURCES

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.

ABOUT THE AUTHOR

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.

Table of Contents

• INTRODUCTION
  • STUDY GOAL AND OBJECTIVES
  • SCOPE AND FORMAT
  • CONTRIBUTIONS OF THE STUDY AND AUDIENCE
  • METHODOLOGY AND INFORMATION SOURCES
  • ABOUT THE AUTHOR
  • RELATED BCC REPORTS
  • BCC ONLINE SERVICES
  • DISCLAIMER
• SUMMARY
  • Summary Table: U.S. MARKET FOR THERAPEUTICS AND DIAGNOSTICS FOR GENETIC DISEASES, BY SEGMENT THROUGH 2010 ($ MILLIONS)
  • Summary Figure: U.S. MARKET FOR THERAPEUTICS AND DIAGNOSTICS FOR GENETIC DISEASES, BY SEGMENT, 2000-2010 ($ MILLIONS)
• OVERVIEW
  • INTRODUCTION TO MONOGENIC DISEASES
    • GENETIC TESTING
    • CARRIER SCREENING
    • PRENATAL DIAGNOSTIC TESTING
      • Ultrasound
      • Amniocentesis
      • Chorionic Villus Sampling (CVS)
      • Maternal Serum Alpha-Fetoprotein (MSAFP)
      • Triple or Quadruple Screen
      • Advanced Maternal Age
  • Table 1 MATERNAL AGE AND RISK OF CHROMOSOMAL ABNORMALITIES
    • Maternal Medical Problems
    • Genetic Counseling
    • PREIMPLANTATION DIAGNOSIS
    • NEWBORN SCREENING
  • Table 2 NEWBORN SCREENING RECOMMENDED BY THE AMERICAN COLLEGE OF MEDICAL GENETICS
  • Table 2 (CONTINUED)
  • Table 3 STATES WITH MANDATED NEWBORN SCREENING FOR ALL 29 OF THE RECOMMENDED ACMG DISORDERS, DECEMBER 2005
  • Table 4 STATES WITH MANDATED NEWBORN SCREENING FOR AT LEAST 20 OF THE RECOMMENDED ACMG DISORDERS, DECEMBER 2005
    • PRESYMPTOMATIC TESTING
    • CONFIRMATIVE DIAGNOSIS
  • Table 5 COMMON DNA-BASED GENE TESTS
    • SUCCESSES AND LIMITATIONS OF GENETIC TESTING
    • REGULATORY POLICIES
    • INSURANCE
• MARKET BY DISEASE SEGMENT
  • CYSTIC FIBROSIS
    • INTRODUCTION
    • GENETICS
      • Genetics (Continued)
  • Table 6 INCIDENCE OF COMMON MUTATIONS IN CYSTIC FIBROSIS IN THE UNITED STATES
    • SYMPTOMS
      • Mild to Moderate CF Lung Disease
      • Advanced/Severe CF Lung Disease
      • Pancreatic Insufficiency
      • Diabetes
      • Liver Damage
      • Fertility
      • Osteoporosis
    • DIAGNOSIS
    • TREATMENT OVERVIEW
      • Treatment Overview (Continued)
  • Table 7 U.S. MARKET FOR CYSTIC FIBROSIS THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 1 U.S. MARKET FOR CYSTIC FIBROSIS THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • DIAGNOSTICS FOR CYSTIC FIBROSIS
  • Table 8 U.S. MARKET FOR CYSTIC FIBROSIS DIAGNOSTICS TESTING BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 2 U.S. MARKET FOR CYSTIC FIBROSIS DIAGNOSTICS TESTING BY SEGMENT, 2000-2010 ($ MILLIONS)
    • PHARMACEUTICALS IN TREATMENT OF CYSTIC FIBROSIS
      • Bronchodilators
      • Dnase
  • Table 9 HEALTH-RELATED ECONOMIC END POINTS OF PULMOZYME REPORTED DURING A 24-WEEK STUDY
    • Pancreatic Enzyme Therapy
  • Table 10 MAJOR MANUFACTURERS OF PANCREATIC ENZYME THERAPIES
    • CORTICOSTEROIDS
    • ANTIBIOTICS
  • Table 11 U.S. MARKET FOR PHARMACEUTICALS IN TREATMENT OF CYSTIC FIBROSIS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • The Market for Pharmaceuticals in the Treatment of CF
      • Bronchodilators
      • Pancreatic Enzyme Therapies
      • Corticosteroids
      • Antibiotics
    • TRANSPLANTS IN TREATMENT OF CYSTIC FIBROSIS
      • Transplant Timing
      • Lung Function
      • Market for Transplants in the Treatment of Cystic Fibrosis
  • Table 12 U.S. MARKET FOR TRANSPLANTS IN TREATMENT OF CYSTIC FIBROSIS, BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • FUTURE DIRECTIONS IN CF TREATMENT
      • Ion Channel Modulators
      • Curcumin
      • Living Donor Transplants
      • Gene Therapy
    • DUCHENNE AND BECKER MUSCULAR DYSTROPHY
      • INTRODUCTION
      • MUTATIONS
      • SYMPTOMS
      • DIAGNOSIS
      • TREATMENT
  • Table 13 U.S. MARKET FOR MUSCULAR DYSTROPHY THERAPEUTICS, BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 3 U.S. MARKET FOR MUSCULAR DYSTROPHY THERAPEUTICS, BY SEGMENT, 2000-2010 ($ MILLIONS)
    • DIAGNOSTICS FOR DMD/BMD
  • Table 14 U.S. MARKET FOR DMD/BMD DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 4 U.S. MARKET FOR DMD/BMD DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • Pharmaceuticals for the Treatment of Muscular Dystropies
  • Table 15 U.S. MARKET FOR PHARMACEUTICALS IN TREATMENT OF DMD/BMD BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • Physiotherapy
    • Mechanical Ventilatory Assistance/Volume Ventilators
    • FUTURE DIRECTIONS IN DMD/BMD TREATMENT
    • HEMOPHILIAS
    • HEMOPHILIA A
      • Symptoms
      • Genetics
      • Diagnosis
      • Therapy
    • HEMOPHILIA B
      • Genetics
    • HEMOPHILIA C
    • VON WILLEBRAND DISEASE
    • HEMOPHILIA TREATMENT
  • Table 16 U.S. MARKET FOR HEMOPHILIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 5 U.S. MARKET FOR HEMOPHILIA THERAPEUTICS BY SEGMENT, 2000- 2010 ($ MILLIONS)
    • DIAGNOSTICS FOR HEMOPHILIAS
  • Table 17 U.S. MARKET FOR HEMOPHILIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 6 U.S. MARKET FOR HEMOPHILIA DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • PHARMACEUTICALS IN TREATMENT OF HEMOPHILIAS
      • Replacement Therapy
  • Table 18 MAJOR CLOTTING FACTOR REPLACEMENT THERAPIES AND MANUFACTURERS IN THE U.S.
  • Table 18 (CONTINUED)
    • Other Pharmaceuticals
      • Desmopressin
      • Antifibrinolytic Drugs
    • Market for Pharmaceuticals in the Treatment of Hemophilias
  • Table 19 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF HEMOPHILIA BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • TRANSPLANTS IN TREATMENT OF HEMOPHILIAS
    • FUTURE DIRECTIONS
      • Improved Purification Processes
      • Gene Therapy
  • Table 20 GENE THERAPY TRIALS FOR HEMOPHILIA
    • HEREDITARY HEMOCHROMATOSIS
      • INTRODUCTION
      • GENETICS
      • SYMPTOMS
      • DIAGNOSIS
      • TREATMENT
  • Table 21 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS THERAPEUTICS, BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 7 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS THERAPEUTICS, BY SEGMENT, 2000-2010 ($ MILLIONS)
    • DIAGNOSTICS FOR HEREDITARY HEMACHROMATOSIS
  • Table 22 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 8 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS BY CONFIRMATORY DIAGNOSIS, 2002-2010 ($ MILLIONS)
    • TRANSFUSIONS/ PHLEBOTOMY IN THE TREATMENT OF HEREDITARY HEMACHROMATOSIS
  • Table 23 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF HEREDITARY HEMACHROMATOSIS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • POLYCYSTIC KIDNEY DISEASE
      • INTRODUCTION
      • GENETICS
      • DIAGNOSIS
      • AUTOSOMAL DOMINANT PKD
        • Symptoms
        • Diagnosis
        • Treatment
          • Pain Relief
          • Urinary Tract Infections
          • High Blood Pressure
          • End-Stage Renal Disease (ESRD)
      • AUTOSOMAL RECESSIVE PKD
        • Genetics
        • Symptoms
        • Diagnosis
        • Treatment Overview
        • The U.S. Market for Polycystic Kidney Disease Therapeutics
  • Table 24 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 9 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • DIAGNOSTICS FOR POLYCYSTIC KIDNEY DISEASE
  • Table 25 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 10 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • PHARMACEUTICALS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE
      • Vitamin D Analogues
      • Erythropoietin (EPO)
      • IV Iron Therapy
  • Table 26 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF POLYCYSTIC KIDNEY DISEASE BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • DIALYSIS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE
  • Table 27 U.S. MARKET FOR DIALYSIS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • TRANSPLANTS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE
  • Table 28 U.S. MARKET FOR TRANSPLANTS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE, BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • SICKLE CELL AND RELATED ANEMIAS
      • INTRODUCTION
      • GENETICS
        • Genetics (Continued)
      • SYMPTOMS
        • Vasoocclusive Crises
        • Aplastic Crisis
        • Splenic Sequestration Crisis.
      • DIAGNOSIS
        • Newborn Screening
      • TREATMENT OVERVIEW
        • Febrile Illness
        • Painful (Vaso-Occlusive) Crises
        • Acute Chest Crisis
        • Hydroxyurea
        • Blood Transfusions
  • Table 29 U.S. MARKET FOR SICKLE CELL ANEMIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 11 U.S. MARKET FOR SICKLE CELL ANEMIA THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • DIAGNOSTICS FOR SICKLE CELL ANEMIA
  • Table 30 U.S. MARKET FOR SICKLE CELL ANEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 12 MARKET FOR SICKLE CELL ANEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
    • PHARMACEUTICALS IN TREATMENT OF SICKLE CELL AND RELATED ANEMIAS
      • Hydroxyurea
      • Emerging Pharamceuticals
        • Erythropoietin (EPO)
        • Clotrimazole
        • Fluocor
  • Table 31 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF SICKLE CELL ANEMIA BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • TRANSFUSIONS IN TREATMENT OF SICKLE CELL AND RELATED ANEMIAS
  • Table 32 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF ANEMIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • FUTURE TREATMENTS
    • THALASSEMIAS
      • INTRODUCTION
      • ALPHA THALASSEMIA
        • Genetics
        • Symptoms
      • BETA (b) THALASSEMIAS
        • Genetics
        • Symptoms
      • DELTA (d) THALASSEMIA
      • THALASSEMIA IN COMBINATION WITH OTHER HEMOGLOBINOPATHIES
      • DIAGNOSIS
      • TREATMENT OVERVIEW
  • Table 33 U.S. MARKET FOR THALASSEMIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 13 U.S. MARKET FOR THALASSEMIA THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • DIAGNOSTICS FOR THALASSEMIA
  • Table 34 U.S. MARKET FOR THALASSEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
  • Figure 14 U.S. MARKET FOR THALASSEMIA DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
    • TRANSFUSIONS IN TREATMENT OF THALASSEMIA
  • Table 35 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF THALASSEMIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
    • FUTURE TREATMENTS
• EMERGING THERAPEUTIC TARGETS
  • ENZYMATIC DEFICIENCIES
    • ALPHA-1-ANTITRYPSIN DEFICIENCY
      • Symptoms
      • Genetics
      • Treatment
    • GAUCHER DISEASE
      • Symptoms
      • Diagnosis
      • Genetics
      • Treatment
    • PHENYLKETONURIA
      • Diagnosis
      • Treatment
  • MOTOR-NERVOUS SYSTEM DISEASES
    • AMYOTROPHIC LATERAL SCLEROSIS
      • Symptoms
      • Diagnosis
      • Genetics
      • Treatment
    • FUTURE DIRECTIONS
    • FRAGILE X SYNDROME
      • Genetics
      • Diagnosis
      • Treatment
    • CANAVAN DISEASE
      • Symptoms
      • Genetics
      • Treatment
    • NEUROFIBROMATOSIS TYPE 1
      • Genetics
      • Symptoms
      • Symptoms (Continued)
      • Diagnosis
      • Treatment
  • IMMUNE SYSTEM DISORDERS
    • ATAXIA TELANGIECTASIA
      • Genetics
      • Symptoms
      • Treatment
      • Diagnosis
  • METABOLIC DISORDERS
    • MAPLE SYRUP URINE DISEASE
      • Symptoms
      • Genetics
      • Treatment
    • NIEMANN-PICK DISEASE
      • Genetics
      • Treatment
    • TAY-SACHS DISEASE
      • Symptoms
      • Genetics
      • Treatment and Future Directions
    • MUCOPOLYSACCHARIDE DISEASE (HURLERS DISEASE, SANFILLIPO SYNDROME, HUNTERS SYNDROME)
  • Table 36 MUCOPOLYSACCHARIDE DISEASES
    • MPS-I H, Hurler Syndrome
      • Diagnosis
      • Treatment
    • MPS-II, Hunter Syndrome
      • Genetics
      • Symptoms
      • Diagnosis
      • Treatment
    • MPS-III, Sanfillipo Syndrome
      • Diagnosis
      • Treatment
      • Future Therapies
• MARKET BY PRODUCT TYPE
  • DIAGNOSTICS FOR GENETIC DISEASE
  • Table 37 U.S. MARKET FOR DIAGNOSTICS OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)
  • Figure 15 U.S. MARKET FOR DIAGNOSTICS OF GENETIC DISEASE BY DISEASE TYPE, 2000-2010 ($ MILLIONS)
    • PHARMACEUTICAL TREATMENTS OF GENETIC DISEASE
  • Table 38 U.S. MARKET FOR PHARMACEUTICAL TREATMENTS OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)
    • TRANSPLANTATION TREATMENT OF GENETIC DISEASE
  • Table 39 U.S. MARKET FOR TRANSPLANTATION TREATMENT OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)
    • TRANSFUSION TREATMENT OF GENETIC DISEASE
  • Table 40 U.S. MARKET FOR TRANSFUSION TREATMENT OF GENETIC DISEASE, BY DISEASE TYPE ($ MILLIONS)
    • TRANSPLANTATION TREATMENT OF�ECONTINUED)
• PATENT EVALUATION
  • Table 41 MONOGENIC DISEASE TREATMENTS, PATENTS BY DISEASE, FEBRUARY 2004-FEBRUARY 2006
  • Table 42 MONOGENIC DISEASE TREATMENTS, PATENTS BY ASSIGNEE, FEBRUARY 2004-FEBRUARY 2006
  • Table 42 (CONTINUED)
  • Table 43 MONOGENIC DISEASE TREATMENTS, PATENTS BY REGION, FEBRUARY 2004-FEBRUARY 2006
  • Table 44 MONOGENIC DISEASE TREATMENTS, PATENTS BY INSTITUTION TYPE, FEBRUARY 2004-FEBRUARY 2006
    • RECENT PATENTS OF SIGNIFICANCE
      • METHOD FOR UPREGULATION OF CF TRANSMEMBRANE MEMBRANE CONDUCTANCE REGULATORS
      • ENHANCERS OF CFTR CHLORIDE CHANNEL FUNCTION
      • POTENTIAL NUTRACEUTICAL TREATMENT FOR PKD
      • SCREENING METHOD FOR COMPOUNDS TO TREAT PKD
      • GLYCOSYLATED, LOW ANTIGENICITY LOW IMMUNOGENICITY FACTOR VIII
      • ANTIVIRAL AGENT FOR PREVENTION OF CELL SICKLING
• OUTLOOK
  • FUTURE DIRECTIONS
    • IDENTIFICATION OF MODIFIER GENES AND MUTATIONS
    • NON-INVASIVE PRENATAL TESTING
    • GENE THERAPY
    • STEM CELL THERAPY
  • CHALLENGES AND ETHICAL CONSIDERATIONS
    • INSURANCE COVERAGE
    • OVER-THE-COUNTER OPTIONS
    • PRENATAL TESTING
  • COMPANY PROFILES
    • AMGEN
    • ATHENA DIAGNOSTICS, INC.
    • CHIRON, INC
    • GENAERA CORP
    • GENENTECH INC.
    • GENZYME CORP.
    • LABORATORY CORPORATION OF AMERICA (LABCORP)
    • MAXYGEN
    • MILLENIUM PHARMACEUTICALS
    • MYRIAD GENETICS
    • ORCHID BIOSCIENCES
      • Orchid Biosciences (Continued)
    • PFIZER INC.
    • QUEST DIAGNOSTICS
    • ROCHE (F. HOFFMANN-LA ROCHE LTD)
    • SANOFI-AVENTIS
    • VERTEX PHARMACEUTICALS, INC
      • Vertex Pharmaceuticals, Inc (Continued)
    • WYETH-AYERST, INC.
• LIST OF TABLES
• Summary Table:
• Table 1 MATERNAL AGE AND RISK OF CHROMOSOMAL ABNORMALITIES
• Table 2 NEWBORN SCREENING RECOMMENDED BY THE AMERICAN COLLEGE OF MEDICAL GENETICS
• Table 3 STATES WITH MANDATED NEWBORN SCREENING FOR ALL 29 OF THE RECOMMENDED ACMG DISORDERS, DECEMBER 2005
• Table 4 STATES WITH MANDATED NEWBORN SCREENING FOR AT LEAST 20 OF THE RECOMMENDED ACMG DISORDERS, DECEMBER 2005
• Table 5 COMMON DNA-BASED GENE TESTS
• Table 6 INCIDENCE OF COMMON MUTATIONS IN CYSTIC FIBROSIS IN THE UNITED STATES
• Table 7 U.S. MARKET FOR CYSTIC FIBROSIS THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 8 U.S. MARKET FOR CYSTIC FIBROSIS DIAGNOSTICS TESTING BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 9 HEALTH-RELATED ECONOMIC END POINTS OF PULMOZYME REPORTED DURING A 24-WEEK STUDY
• Table 10 MAJOR MANUFACTURERS OF PANCREATIC ENZYME THERAPIES
• Table 11 U.S. MARKET FOR PHARMACEUTICALS IN TREATMENT OF CYSTIC FIBROSIS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 12 U.S. MARKET FOR TRANSPLANTS IN TREATMENT OF CYSTIC FIBROSIS, BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 13 U.S. MARKET FOR MUSCULAR DYSTROPHY THERAPEUTICS, BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 14 U.S. MARKET FOR DMD/BMD DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 15 U.S. MARKET FOR PHARMACEUTICALS IN TREATMENT OF DMD/BMD BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 16 U.S. MARKET FOR HEMOPHILIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 17 U.S. MARKET FOR HEMOPHILIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 18 MAJOR CLOTTING FACTOR REPLACEMENT THERAPIES AND MANUFACTURERS IN THE U.S.
• Table 19 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF HEMOPHILIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 20 GENE THERAPY TRIALS FOR HEMOPHILIA
• Table 21 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS THERAPEUTICS, BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 22 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 23 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF HEREDITARY HEMACHROMATOSIS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 24 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 25 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 26 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF POLYCYSTIC KIDNEY DISEASE BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 27 U.S. MARKET FOR DIALYSIS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 28 U.S. MARKET FOR TRANSPLANTS IN TREATMENT OF POLYCYSTIC KIDNEY DISEASE, BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 29 U.S. MARKET FOR SICKLE CELL ANEMIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 30 U.S. MARKET FOR SICKLE CELL ANEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 31 U.S. MARKET FOR PHARMACEUTICALS IN THE TREATMENT OF SICKLE CELL ANEMIA BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 32 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF ANEMIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 33 U.S. MARKET FOR THALASSEMIA THERAPEUTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 34 U.S. MARKET FOR THALASSEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Table 35 U.S. MARKET FOR TRANSFUSIONS IN THE TREATMENT OF THALASSEMIAS BY PRODUCT TYPE, THROUGH 2010 ($ MILLIONS)
• Table 36 MUCOPOLYSACCHARIDE DISEASES
• Table 37 U.S. MARKET FOR DIAGNOSTICS OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)
• Table 38 U.S. MARKET FOR PHARMACEUTICAL TREATMENTS OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)
• Table 39 U.S. MARKET FOR TRANSPLANTATION TREATMENT OF GENETIC DISEASE BY DISEASE TYPE, THROUGH 2010 ($ MILLIONS)
• Table 40 U.S. MARKET FOR TRANSFUSION TREATMENT OF GENETIC DISEASE, BY DISEASE TYPE ($ MILLIONS)
• Table 41 MONOGENIC DISEASE TREATMENTS, PATENTS BY DISEASE, FEBRUARY 2004-FEBRUARY 2006
• Table 42 MONOGENIC DISEASE TREATMENTS, PATENTS BY ASSIGNEE, FEBRUARY 2004-FEBRUARY 2006
• Table 43 MONOGENIC DISEASE TREATMENTS, PATENTS BY REGION FEBRUARY 2004-FEBRUARY 2006
• Table 44 MONOGENIC DISEASE TREATMENTS, PATENTS BY INSTITUTION TYPE, FEBRUARY 2004-FEBRUARY 2006
• LIST OF FIGURES
• Summary Figure:
• Figure 1 U.S. MARKET FOR CYSTIC FIBROSIS THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 2 U.S. MARKET FOR CYSTIC FIBROSIS DIAGNOSTICS TESTING BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 3 U.S. MARKET FOR MUSCULAR DYSTROPHY THERAPEUTICS, BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 4 U.S. MARKET FOR DMD/BMD DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 5 U.S. MARKET FOR HEMOPHILIA THERAPEUTICS BY SEGMENT, 2000- 2010 ($ MILLIONS)
• Figure 6 U.S. MARKET FOR HEMOPHILIA DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 7 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS THERAPEUTICS, BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 8 U.S. MARKET FOR HEREDITARY HEMACHROMATOSIS BY CONFIRMATORY DIAGNOSIS, 2002-2010 ($ MILLIONS)
• Figure 9 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 10 U.S. MARKET FOR POLYCYSTIC KIDNEY DISEASE DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 11 U.S. MARKET FOR SICKLE CELL ANEMIA THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 12 MARKET FOR SICKLE CELL ANEMIA DIAGNOSTICS BY SEGMENT, THROUGH 2010 ($ MILLIONS)
• Figure 13 U.S. MARKET FOR THALASSEMIA THERAPEUTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 14 U.S. MARKET FOR THALASSEMIA DIAGNOSTICS BY SEGMENT, 2000-2010 ($ MILLIONS)
• Figure 15 U.S. MARKET FOR DIAGNOSTICS OF GENETIC DISEASE BY DISEASE TYPE, 2000-2010 ($ MILLIONS)

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