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希少疾患診断:技術と世界市場

Rare Disease Diagnostics: Technologies and Global Markets

発行 BCC Research 商品コード 943529
出版日 ページ情報 英文 174 Pages
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希少疾患診断:技術と世界市場 Rare Disease Diagnostics: Technologies and Global Markets
出版日: 2020年06月12日 ページ情報: 英文 174 Pages
概要

世界の希少疾患診断市場は、2019年に170億米ドルとなりました。同市場は、2019年から2024年までの予測期間中に9.5%のCAGRで成長する見通しで、2024年には267億米ドルに達すると予測されています。

当レポートは世界の希少疾患診断市場について調査しており、希少疾患の診断技術、用途、業界の動向、イニシアチブ、特許、競合情勢、主要企業のプロファイル等の情報を提供しています。

目次

第1章 イントロダクション

第2章 結論とハイライト

第3章 概要

  • 希少疾患診断技術と市場
  • 大規模イニシアチブ・コンソーシアム
  • 希少疾患診断市場の原動力
  • 世界の希少疾患診断市場

第4章 技術の背景

  • 稀少疾患
  • 希少疾患診断の主要遺伝子分析プラットフォーム
  • サンガーシーケンス
  • 次世代シーケンシング
  • ポリメラーゼ連鎖反応

第5章 稀少疾患診断のイニシアチブ

  • BabySeq
  • 血液プロファイリングアトラス
  • Cancer-ID
  • キャンサームーンショット計画
  • ClinGen
  • ClinVar
  • Ending the Diagnostic Odyssey Act
  • EpiFemCare
  • 癌治療プログラムにおける画像と流体ベースの腫瘍モニタリングの統合
  • 改善された癌治療のための液体生検と画像
  • MedSeq
  • 前がんアトラス
  • 精密医学イニシアチブ
  • QuIP
  • TopMed
  • 希少がんコンソーシアム
  • 集団配列決定プログラム、など

第6章 希少疾患診断産業

  • シーケンス機器産業
  • 長期読み取りシーケンス産業
  • 情報産業のシーケンス
  • ポリメラーゼ連鎖反応産業
  • ゲノム医薬品:遺伝子治療産業
  • ゲノム医薬品:遺伝子組み換え細胞治療産業
  • ゲノム医薬品:遺伝子編集療法産業
  • ゲノム医薬品:RNA療法産業
  • 希少疾患診断人工知能産業

第7章 戦略的提携と買収

  • 買収
  • 戦略的提携
  • 主な動向
  • 提携のサマリー

第8章 稀少疾患診断の市場

  • 希少疾患診断市場の原動力
    • 医療ニーズの急増
    • 孤児ドラッグ法
    • 革新的な希少疾患薬の広範な後期臨床パイプライン
    • まれな病気の取り組み
  • 希少疾患診断市場
  • 心血管
  • 中枢神経系
  • 代謝および内分泌障害
  • 血液学
  • 免疫系および炎症関連障害
  • 筋骨格
  • 眼科
  • 呼吸器
  • マイクロアレイ
  • 次世代シーケンシング
  • ポリメラーゼ連鎖反応
  • サンガーシーケンス
  • 単一遺伝子
  • 複数遺伝子
  • 全ゲノムおよび全エクソーム市場
  • その他のゲノム変異
  • タンパク質
  • スクリーニングと早期発見市場
  • 診断市場
  • 治療指導市場
  • モニタリング市場
  • 北米
  • 欧州
  • アジア太平洋地域
  • その他の地域、など

第9章 特許と知的財産

  • 希少疾患診断特許
  • 関連する遺伝子編集特許
  • 遺伝子編集特許:Sangamoのケーススタディ
  • 遺伝子治療デリバリー特許
  • RNA治療関連の特許
  • CAR T-Cell特許

第10章 企業プロファイル

  • 3BILLION INC.
  • 23ANDME INC.
  • 10X GENOMICS INC.
  • ADAPTIVE BIOTECHNOLOGIES INC.
  • ADMERA HEALTH
  • AGILENT TECHNOLOGIES INC.
  • ALCEDIAG
  • AMARANTUS BIOSCIENCE HOLDINGS INC.
  • AMBRY GENETICS
  • ARCHIMEDLIFE LABORATORIES
  • ARUP LABORATORIES
  • ASTRIDBIO TECHNOLOGIES KFT.
  • ASURAGEN INC.
  • ATHENA DIAGNOSTICS INC.
  • BASE4 INNOVATION LTD.
  • BAYLOR GENETICS
  • BC PLATFORMS
  • BERRY GENOMICS CO., LTD.
  • BGI SHENZHEN
  • BIOCEPT INC.
  • BIO-RAD LABORATORIES INC.
  • CEGAT GMBH
  • CELLMAX LIFE
  • CELSEE DIAGNOSTICS
  • CENTOGENE AG
  • CERGENTIS B.V.
  • DANAHER CORP.
  • DANTE LABS
  • DEVYSER AB
  • DIACARTA INC.
  • DIPLOID
  • DIRECTED GENOMICS LLC
  • DNANEXUS INC.
  • ELECTRONIC BIOSCIENCES
  • EPIC SCIENCES INC.
  • EUROFINS SCIENTIFIC
  • EXPEDEON AG
  • FABRIC GENOMICS
  • FREENOME INC.
  • FULGENT GENETICS
  • FUSION GENOMICS CORP.
  • GENAPSYS INC.
  • GENEDX INC.
  • GENEMIND BIOSCIENCES CO., LTD.
  • GENETICS RESEARCH LLC
  • GENOMATIX SOFTWARE GMBH
  • GENOMENON
  • GENOMIC EXPRESSION
  • GENOME PROFILING LLC
  • GENOMNIA SRL
  • GENOMONCOLOGY
  • GENOSPACE
  • GENOOX
  • GENEXOSOME TECHNOLOGIES INC.
  • GIGAGEN INC.
  • GOLDEN HELIX
  • GRANDOMICS BIOSCIENCES CO., LTD.
  • GUARDIOME
  • HELIX OPCO LLC
  • HTG MOLECULAR DIAGNOSTICS INC.
  • ILLUMINA INC.
  • INVITAE INC.
  • KINGMED DIAGNOSTICS CENTER CO., LTD.
  • LABORATORY CORP. OF AMERICA INC.
  • LABORATORY FOR MOLECULAR MEDICINE
  • LEUCINE RICH BIO PVT., LTD.
  • LOOP GENOMICS
  • MACROGEN INC.
  • MAYO MEDICAL LABORATORIES
  • MEDGENOME LABS PVT., LTD.
  • MOLECULAR LOOP BIOSOLUTIONS LLC
  • MYRIAD GENETICS INC.
  • NEW ENGLAND BIOLABS
  • NEWGENE LTD.
  • NOSTROS GENOMICS
  • NOVOGENE CO., LTD.
  • OXFORD NANOPORE TECHNOLOGIES LTD.
  • PACIFIC BIOSCIENCES OF CALIFORNIA INC.
  • PERKINELMER INC.
  • PERSONAL GENOME DIAGNOSTICS INC.
  • PREVENTIONGENETICS INC.
  • Q-STATE BIOSCIENCES
  • QUANTAPORE INC.
  • QUANTUM BIOSYSTEMS INC.
  • QUEST DIAGNOSTICS INC.
  • REAL-TIME GENOMICS INC.
  • RETROPHIN
  • ROCHE HOLDING AG
  • SEVEN BRIDGES GENOMICS INC.
  • SISTEMAS GENOMICOS SL
  • SOFTGENETICS LLC
  • SOPHIA GENETICS
  • SPERA MEDICAL
  • STRAND LIFE SCIENCES PVT., LTD.
  • SUPRATECH MICROPATH LABORATORY & RESEARCH INSTITUTE PVT., LTD.
  • THERMO FISHER SCIENTIFIC INC.
  • TWIST BIOSCIENCE
図表

List of Tables

  • Summary Table: Global Rare Disease Diagnostics Market, by Disease Category, Through 2024
    • Table 1: Report Scope of Rare Disease Diagnostics
    • Table 2: Impact of Large-Scale Initiatives on the Rare Disease Diagnostic Industry
    • Table 3: Driving Forces of Rare Disease Diagnostics Industry Growth, Through 2024
    • Table 4: Global Rare Disease Diagnostics Market, by Diagnostics Platform, Through 2024
    • Table 5: Rare Disease Prevalence Definition in the U.S., Europe and Japan
    • Table 6: Pathways for Accelerated Approval of Rare Disease Therapies, by Country/Region
    • Table 7: Genetic Modification Approaches for Rare Diseases
    • Table 8: Distinct Features of the Genetic Modification Approaches
    • Table 9: Clinical Trials for Advanced Rare Disease Therapies, by Therapy Approach, December 2019
    • Table 10: Clinical Trials for Advanced Rare Disease Therapies, by Disease Indication, December 2019
    • Table 11: Rare Disease Diagnostics Key Genetic Analysis Platforms
    • Table 12: Sanger Sequencing Summary
    • Table 13: Sanger Sequencing Improvements
    • Table 14: Advanced Sequencing Technologies
    • Table 15: Illumina Next-Generation Sequencing Workflow
    • Table 16: Thermo Fisher Next-Generation Sequencing Workflow
    • Table 17: Main Ingredients for Polymerase Chain Reaction
    • Table 18: Polymerase Chain Reaction Process Steps
    • Table 19: Advantages of Droplet Digital Polymerase Chain Reaction for Single-Cell Analysis
    • Table 20: Key Rare Disease Initiatives
    • Table 21: Population Sequencing Projects
    • Table 22: Advanced Sequencing Industry Company Positioning
    • Table 23: End-to-End Sequencing Approaches
    • Table 24: Market Focus of the Long-Read Sequencing Industry, by Company
    • Table 25: Market Focus of Sequencing Informatic Industry, by Company
    • Table 26: Market Focus of Polymerase Chain Reaction Industry, by Company
    • Table 27: Gene Therapy Companies, 2020
    • Table 28: Genetically Modified Cell Therapy Clinical Industry, 2020
    • Table 29: Clinical Stage Gene Editing Industry, by Company
    • Table 30: Competitive Platforms: B-Thalassemia
    • Table 31: Competitive Platforms: LCA
    • Table 32: RNA Therapy Segments
    • Table 33: RNA Therapies Industry, by Company
    • Table 34: Rare Disease Diagnostics Artificial Intelligence Industry
    • Table 35: Rare Disease Diagnostics Industry Acquisitions, April 2018-April 2020
    • Table 36: Rare Disease Diagnostics Industry Strategic Alliances, April 2018-April 2020
    • Table 37: Driving Forces for Rare Disease Diagnostic Growth
    • Table 38: Global Market for Rare Disease Diagnostics, by Disease Class, Through 2024
    • Table 39: Global Market for Rare Disease Diagnostics, by Analysis Platform, Through 2024
    • Table 40: Global Market for Rare Disease Diagnostics, by Analysis Target, Through 2024
    • Table 41: Global Market for Rare Disease Diagnostics, by Test Purpose, Through 2024
    • Table 42: Next-Generation Sequencing-Based Preventive Genetic Screening Tests
    • Table 43: Global Market for Rare Disease Diagnostics, by Region, Through 2024
    • Table 44: Rare Disease Diagnostics Intellectual Property Focus
    • Table 45: CRISPR-Cas9 Patent Groups
    • Table 46: CRISPR-Cas9 Patent Licensing Fields
    • Table 47: Sangamo Collaboration Agreements Relating to ZFN Technology, Through 2019
    • Table 48: Sangamo Therapeutics Patent Position, 2020
    • Table 49: Oxford BioMedica Key Patents, Through 2020
    • Table 50: RNA Therapy Patents and Patent Applications, by Leading Companies, Through 2019
    • Table 51: CAR T-Cell Patentable Technologies, 2015-2017
    • Table 52: 23andMe: Data Generated by Platforms

List of Figures

  • Summary Figure: Global Rare Disease Diagnostics Market, by Disease Category, 2018-2024
目次
Product Code: PHM227A

Highlights:

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019 at a compound annual growth rate (CAGR) of 9.5% for the forecast period of 2019 to 2024.

The cancer segment of the global rare disease diagnostics market is expected to grow from $10.2 billion in 2019 to $16.3 billion in 2024 at a CAGR of 9.8% for the forecast period of 2019 to 2024.

The non-cancer segment of the global rare disease diagnostics market is expected to grow from $6.8 billion in 2019 to $10.4 billion in 2024 at a CAGR of 9.0% for the forecast period of 2019 to 2024.

Report Scope:

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

Disease categories include cardiovascular; central nervous system; endocrine and metabolic; immune and inflammation; musculoskeletal; ophthalmology; rare cancers; respiratory; and other (gastro-intestinal, Genito-urinary, dermatology and lymphatic categories.

Technology platforms include: mass spectrometry, microarrays, next-generation sequencing (NGS), PCR, Sanger sequencing and other (e.g., karyotyping, fluorescent in situ hybridization).

Test purposes include: screening and early detection, diagnosis, therapy guidance and monitoring.

Analysis targets include single gene, multi-gene panels, whole exome, whole genome, other genomic variants and proteins.

Geographical regions include the Asia-Pacific region, Europe, North America and the Rest of the World (ROW).

Industry sectors influencing rare disease diagnostics discussed in the report include next-generation sequencing, long-read sequencing, PCR, RNA therapies, gene-editing therapies, gene therapies, and genetically modified cell therapies.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

BCC Research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

Report Includes:

  • 53 tables
  • An overview of the global markets and technologies for rare disease diagnostics and discussion on market opportunities for these technologies
  • Analyses of global market trends with data from 2018, 2019 and projections of compound annual growth rates (CAGRs) through 2024
  • Evaluation of current market size, market forecast and description of market driving forces
  • Detailed market share analysis and quantification of rare disease diagnostics markets by disease class, indication, analysis platform, analysis target, test purpose and region
  • Briefing about rare disease therapies and how they influence the use of rare disease diagnostics
  • Details about Orphan Drug Act and other initiatives for rare diseases
  • Coverage of the key industries associated with developing and marketing rare disease diagnostics, including the DNA sequencing industry, PCR industry, and laboratory services industry
  • A look at the key industry acquisitions and strategic alliances and discussion on the key partnering trends
  • Profiles of key companies in the rare disease diagnostics industry, including 10x Genomics Inc., Agilent Technologies Inc., Freenome Inc., GenapSys Inc., Illumina Inc., Myriad Genetics Inc. and PerkinElmer Inc.

Table of Contents

Chapter 1: Introduction

  • Study Goals and Objectives
  • Reasons for Doing the Study
  • Scope of Report
  • Methodology
  • Information Sources
  • Geographical Breakdown
  • Analyst's Credentials
  • BCC Custom Research
  • Related BCC Research Reports

Chapter 2: Summary and Highlights

Chapter 3: Overview

  • Rare Disease Diagnostic Technologies and Markets
  • Large-Scale Initiatives and Consortia
  • Rare Disease Diagnostics Market Driving Forces
  • Global Rare Disease Diagnostics Markets

Chapter 4: Technology Background

  • Rare Diseases
  • Rare Disease Diagnostics Key Genetic Analysis Platforms
  • Sanger Sequencing
  • Next-Generation Sequencing
  • Polymerase Chain Reaction

Chapter 5: Rare Disease Diagnostics Initiatives

  • BabySeq
  • Blood Profiling Atlas
  • Cancer-ID
  • Cancer Moon Shots Program
  • China Precision Medicine Initiative
  • ClinGen
  • ClinVar
  • Ending the Diagnostic Odyssey Act
  • EpiFemCare
  • France Genomic Medicine Plan
  • Friends of Cancer Research Project
  • Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
  • Integration of Imaging and Fluid-Based Tumor Monitoring in Cancer Therapy Program
  • Liquid Biopsies and Imaging for Improved Cancer Care
  • Matchmaker Exchange
  • Million Veteran Program
  • MIND
  • MedSeq
  • Precancer Atlas
  • Precision Medicine Initiative
  • Prompt
  • QuIP
  • TopMed
  • Treehouse Childhood Cancer Initiative
  • Very Rare Cancer Consortium
  • Population Sequencing Programs

Chapter 6: Rare Disease Diagnostic Industries

  • Sequencing Instrument Industry
  • Long-Read Sequencing Industry
  • Sequencing Informatic Industry
  • Polymerase Chain Reaction Industry
  • Genomic Medicines: Gene Therapy Industry
  • Genomic Medicines: Genetically Modified Cell Therapy Industry
  • Genomic Medicines: Gene Editing Therapy Industry
  • Genomic Medicines: RNA Therapy Industry
  • Rare Disease Diagnostics Artificial Intelligence Industry

Chapter 7: Rare Disease Diagnostics Strategic Alliances and Acquisitions

  • Acquisitions
  • Strategic Alliances
  • Key Trends
  • Alliance Summaries

Chapter 8: Rare Disease Diagnostics Markets

  • Rare Disease Diagnostics Market Driving Forces
  • Pressing Medical Need
  • Orphan Drug Act
  • Extensive Late-Stage Clinical Pipeline of Innovative Rare Disease Medicines
  • Rare Disease Initiatives
  • Rare Disease Diagnostics Markets
  • Cardiovascular
  • Central Nervous System
  • Metabolic and Endocrine Disorders
  • Hematology
  • Immune System and Inflammation-Related Disorders
  • Musculoskeletal
  • Ophthalmology
  • Rare Cancers
  • Respiratory
  • Mass Spectrometry
  • Microarray
  • Next Generation Sequencing
  • Polymerase Chain Reaction
  • Sanger Sequencing
  • Other
  • Single Genes
  • Multiple Genes
  • Whole Genome and Whole Exome Market
  • Other Genomic Variants
  • Proteins
  • Screening and Early Detection Market
  • Diagnosis Market
  • Therapy Guidance Market
  • Monitoring Market
  • North America
  • Europe
  • Asia-Pacific
  • Rest of the World

Chapter 9: Rare Disease Diagnostics Patents and Intellectual Property

  • Rare Disease Diagnostics Patents
  • Related Gene Editing Patents
  • Gene-Editing Patents: Sangamo Case Study
  • Gene Therapy Delivery Patents
  • RNA Therapy-Related Patents
  • CAR T-Cell Patents

Chapter 10: Company Profiles

  • 3BILLION INC.
  • 23ANDME INC.
  • 10X GENOMICS INC.
  • ADAPTIVE BIOTECHNOLOGIES INC.
  • ADMERA HEALTH
  • AGILENT TECHNOLOGIES INC.
  • ALCEDIAG
  • AMARANTUS BIOSCIENCE HOLDINGS INC.
  • AMBRY GENETICS
  • ARCHIMEDLIFE LABORATORIES
  • ARUP LABORATORIES
  • ASTRIDBIO TECHNOLOGIES KFT.
  • ASURAGEN INC.
  • ATHENA DIAGNOSTICS INC.
  • BASE4 INNOVATION LTD.
  • BAYLOR GENETICS
  • BC PLATFORMS
  • BERRY GENOMICS CO., LTD.
  • BGI SHENZHEN
  • BIOCEPT INC.
  • BIO-RAD LABORATORIES INC.
  • CEGAT GMBH
  • CELLMAX LIFE
  • CELSEE DIAGNOSTICS
  • CENTOGENE AG
  • CERGENTIS B.V.
  • DANAHER CORP.
  • DANTE LABS
  • DEVYSER AB
  • DIACARTA INC.
  • DIPLOID
  • DIRECTED GENOMICS LLC
  • DNANEXUS INC.
  • ELECTRONIC BIOSCIENCES
  • EPIC SCIENCES INC.
  • EUROFINS SCIENTIFIC
  • EXPEDEON AG
  • FABRIC GENOMICS
  • FREENOME INC.
  • FULGENT GENETICS
  • FUSION GENOMICS CORP.
  • GENAPSYS INC.
  • GENEDX INC.
  • GENEMIND BIOSCIENCES CO., LTD.
  • GENETICS RESEARCH LLC
  • GENOMATIX SOFTWARE GMBH
  • GENOMENON
  • GENOMIC EXPRESSION
  • GENOME PROFILING LLC
  • GENOMNIA SRL
  • GENOMONCOLOGY
  • GENOSPACE
  • GENOOX
  • GENEXOSOME TECHNOLOGIES INC.
  • GIGAGEN INC.
  • GOLDEN HELIX
  • GRANDOMICS BIOSCIENCES CO., LTD.
  • GUARDIOME
  • HELIX OPCO LLC
  • HTG MOLECULAR DIAGNOSTICS INC.
  • ILLUMINA INC.
  • INVITAE INC.
  • KINGMED DIAGNOSTICS CENTER CO., LTD.
  • LABORATORY CORP. OF AMERICA INC.
  • LABORATORY FOR MOLECULAR MEDICINE
  • LEUCINE RICH BIO PVT., LTD.
  • LOOP GENOMICS
  • MACROGEN INC.
  • MAYO MEDICAL LABORATORIES
  • MEDGENOME LABS PVT., LTD.
  • MOLECULAR LOOP BIOSOLUTIONS LLC
  • MYRIAD GENETICS INC.
  • NEW ENGLAND BIOLABS
  • NEWGENE LTD.
  • NOSTROS GENOMICS
  • NOVOGENE CO., LTD.
  • OXFORD NANOPORE TECHNOLOGIES LTD.
  • PACIFIC BIOSCIENCES OF CALIFORNIA INC.
  • PERKINELMER INC.
  • PERSONAL GENOME DIAGNOSTICS INC.
  • PREVENTIONGENETICS INC.
  • Q-STATE BIOSCIENCES
  • QUANTAPORE INC.
  • QUANTUM BIOSYSTEMS INC.
  • QUEST DIAGNOSTICS INC.
  • REAL-TIME GENOMICS INC.
  • RETROPHIN
  • ROCHE HOLDING AG
  • SEVEN BRIDGES GENOMICS INC.
  • SISTEMAS GENOMICOS SL
  • SOFTGENETICS LLC
  • SOPHIA GENETICS
  • SPERA MEDICAL
  • STRAND LIFE SCIENCES PVT., LTD.
  • SUPRATECH MICROPATH LABORATORY & RESEARCH INSTITUTE PVT., LTD.
  • THERMO FISHER SCIENTIFIC INC.
  • TWIST BIOSCIENCE