希少疾患遺伝子検査市場 - 成長、動向、COVID-19の影響、および予測 (2021年~2026年)

Rare Disease Genetic Testing Market - Growth, Trends, COVID-19 Impact, and Forecasts (2021 - 2026)

出版日: | 発行: Mordor Intelligence Pvt Ltd | ページ情報: 英文 120 Pages | 納期: 2-3営業日

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希少疾患遺伝子検査市場 - 成長、動向、COVID-19の影響、および予測 (2021年~2026年)
出版日: 2021年05月13日
発行: Mordor Intelligence Pvt Ltd
ページ情報: 英文 120 Pages
納期: 2-3営業日
  • 全表示
  • 概要
  • 目次


タイムリーで正確な診断の必要性は、市場の成長を促進する重要な要因の1つです。Orphanet Journal of Rare Diseasesに掲載された全国規模の横断的調査では、中国の2040人の希少疾患患者が含まれており、疾患関連情報へのアクセスが困難な患者は、誤診される可能性が4~5倍高いと結論付けられています。NGSベースの遺伝子検査などの新技術の発表や、診断や政府の取り組みに対する需要の高まりは、希少疾患遺伝子検査市場の成長に貢献する可能性があります。




第1章 イントロダクション

第2章 調査手法

第3章 エグゼクティブサマリー

第4章 市場力学

  • 市場概要
  • 市場の原動力
    • 正確な診断の必要性
    • 遺伝子検査技術の開発
    • 希少疾患に対する政府の取り組みの拡大
  • 市場の抑制要因
    • 希少疾患に対する意識の欠如
    • 調査のための限られたリソース
  • ポーターのファイブフォース分析

第5章 市場セグメンテーション

  • 技術別
    • 次世代シーケンシング
    • アレイ技術
    • PCR検査
    • FISH検査
    • その他の技術
  • 疾患別
    • 神経学的障害
    • 免疫疾患
    • 血液疾患
    • 内分泌および代謝疾患
    • 筋骨格疾患
    • その他の疾患
  • エンドユーザー別
    • クリニック・病院
    • 診断研究所
    • その他のエンドユーザー
  • 地域
    • 北米
    • 欧州
    • アジア太平洋
    • その他の地域

第6章 競合情勢

  • 企業プロファイル
    • Quest Diagnostics Incorporated
    • Invitae Corporation
    • 3billion Inc.
    • ARUP Laboratories
    • Eurofins Scientific
    • Strand Life Sciences
    • Ambry Genetics
    • PerkinElmer Genetics Inc.
    • Macrogen Inc.
    • Baylor Genetics
    • Color Health Inc.
    • Health Network Laboratories

第7章 市場機会と動向

Product Code: 71995

The rare disease genetic testing market is projected to register a CAGR of nearly 10% over the forecast period (2021 - 2026).

The COVID-19 pandemic impact on the rare disease genetic testing market is significant. The rise in COVID-19 cases has led to global healthcare services shift their resources toward COVID-19 care while impacting patients with rare diseases. According to the Eurordis international survey, rare disease patients seemed to have a worse experience than chronic disease patients due to the pandemic. 60% of patients have experienced interrupted care, and 80% canceled or postponed their appointments. Inability to access care is expected to make the diagnosis of potential rare diseases much more difficult. A research study published in the Journal of Medical Genetics shows that the blood draws for genetic testing decreased from 97.7% to 94.1% during the pre-virtual and virtual care period, along with the longer time taken for patients to give their blood sample in Canada's cancer center. The pandemic has led to the shut down of companies and other non-healthcare businesses to reduce the spread of the virus. The lack of healthcare services and canceled or postponed appointments result in the underdiagnosis of rare disease patients, which may impact the market.

According to Global Genes, 400 million people, worldwide, are affected by rare diseases, out of which 30 million are Americans. There is a total of 7,000 rare diseases identified, and only 5% of them have FDA-approved treatment. The need for timely and accurate diagnosis is one of the key factors that may drive market growth. A national cross-sectional survey published in Orphanet Journal of Rare Diseases, which included 2040 rare disease patients in China, concluded that patients who have difficulty accessing disease-related information are 4-5 times more likely to get misdiagnosed. In 2018, EURORDIS, Microsoft, and Takeda came together to launch 'Global Commission to End Diagnostic Odyssey for Children with a Rare Diseases', which includes Machine Learning and Blockchain patient registry to find patterns and symptoms of rare disease, raise awareness among the public and physicians, and give patients and their families control of their health records. In January 2021, UK Rare Disease Framework was launched, which focuses on faster diagnosis, awareness, care, and access to treatment for 3.5 million rare disease patients over 5 years. The launch of new technologies, such as NGS-based genetic testing and increased demand for diagnosis and government initiatives, may contribute to the growth of the rare disease genetic testing market.

Underdiagnosis of a rare disease may often go for extended periods due to the limited awareness of patients, families, and physicians, as they may have never encountered one. In April 2021, a survey was conducted in China involving 224 physicians, out of which only 5.3% were moderately well-aware of rare diseases. In February 2020, the National Organization for Rare Disorders (NORD) launched a registry for rare undiagnosed diseases, to collect information regarding unidentified rare medical cases through electronic surveys. Rare disease affects very few people, which makes research or clinical studies difficult. Even with sufficient funding for research activities, there exists a lack of resources, such as the low patient population for data collection and limited understanding of the progression of the disease. Furthermore, the majority of these diseases affect children, which adds to the complexity of the process. Lack of awareness of diagnosis and challenges associated with clinical studies is likely to inhibit the market growth.

Key Market Trends

Next-Generation Sequencing (NGS) is Expected to Occupy a Significant Share over the Forecast Period

With the emergence of COVID-19 in China, authorities started developing its genome sequence, which is crucial for diagnosing and identifying possible treatments. Thus, sequencing techniques have played a crucial role during the pandemic for research scientists and industries. The effective and rapid solutions from NGS have enabled sequencing multiple samples and detecting the virus. In December 2020, a report published in European Centre for Disease Prevention and Control assessed the risk of new virus variants in Europe. Genome sequencing was used to confirm the cases of this new variant.

Similarly, a different variant was confirmed in South Africa using the WGS sequencing. In June 2020, the US FDA gave the Emergency Use Authorization for Illumina Inc. to utilize NGS-based technology, COVIDSeq, to detect COVID-19. The COVID-19 pandemic has portrayed the true potential of this technique.

Next Generating Sequencing (NGS) may occupy a significant share of the rare disease genetic testing market over the forecast period (2021 - 2026). This is due to the high adoption of the Whole Exome Sequencing (WES) genetic testing tool. This technique targets only exons, which make 1-2% of the whole genome containing 80% of all disease-causing mutations. Such continuous technological developments and AI incorporation within sequencing are expected to provide accurate and rapid results. In December 2020, Invitae expanded its service by updating patient's reports regularly through the introduction of Routine Exome Reanalysis every six months for three years. Additionally, with declining costs of exome sequencing, overall costs of genetic testing may decrease, making it affordable.

Governments, worldwide, are increasingly getting involved in developing genome programs, such as the 100,000 Genomes Project, in the United Kingdom to improve care for rare disease individuals and the All of Us initiative for precision medicine in the United States. Recently, in January 2020, the Department of Biotechnology in India initiated a Whole Genome Sequencing project, Genome India Project (GIP), to collect 10,000 genetic samples to build a reference genome. Thus, increasing the application of NGS's potential within different healthcare aspects is expected to contribute to its major share.

North America is Expected to Dominate the Rare Disease Genetic Testing Market

The impact of COVID-19 on the United States is significant. An increasing number of people with COVID-19 were given priority over other non-emergent cases. Patients delayed or canceled their hospital visits due to fear of getting infected. Hospitals postponed appointments and switched to virtual consultations. A survey was conducted by the Rare Diseases Clinical Research Network receiving 3,400 responses, and the preliminary results give information on COVID-19 impact. According to the survey, the pandemic negatively affected rare disease patients and caregivers due to lack of access to healthcare, diet, and treatment. About 25% responded that their appointments were put on hold, and 45% switched to telemedicine. Nearly 40% of respondent's special treatment was interrupted, and 20% sought a professional due to the stress and anxiety of the pandemic.

North America is expected to dominate the Rare Disease Genetic Testing market over the forecast period. Rare diseases are prevalent in around 30 million Americans according to Global Genes and 3.1 million Canadians according to Canadian Organization for Rare Disorders. Due to the high prevalence in America, the government has provided support for patients with rare diseases through research grants and funds. With only 5% of rare diseases having FDA-approved treatment, NIH has provided USD 31 million in grants to study rare diseases between 2019 and 2020. Similarly, in October 2020, the US FDA carried out Orphan Drug Act, awarded over USD 16 million for six clinical trial research studies to industry and academia for the next four years. In June 2018, Genome Canada announced a national initiative of sequencing 30,000 rare disease patient samples and their relatives for precision medicine implementation.

In 2020, out of the total novel drug approved by the Center for Drug Evaluation and Research (CDER), 58% were orphan drugs used to treat rare diseases. Furthermore, in 2020, HDL Therapeutics Inc. received Humanitarian Device Exemptions for its Plasma Delipidation System to treat a rare genetic disease Homozygous Familial Hypercholesterolemia. Along with rising prevalence and increased approvals, the supportive healthcare infrastructure, government initiatives, and technological advancements in North America are expected to occupy a major market share.

Competitive Landscape

The rare disease genetic testing market remains highly competitive, with many players. Due to the nature of the disease, the demand for diagnosis is high. Moreover, recent developments in genetic testing technologies have led to strategic acquisitions and collaborations. Some of the major players include Quest Diagnostics Incorporated, CENTOGENE NV, Invitae Corporation, 3billion Inc., ARUP Laboratories, Eurofins Scientific, Strand Life Sciences, Ambry Genetics, PerkinElmer Genetics Inc., Macrogen Inc., Baylor Genetics, Color Health Inc., Health Network Laboratories, Prevention Genetics, Coopersurgical Inc., Opko Health Inc., Illumina Inc., Fulgent Genetics, and Progenity Inc.

Reasons to Purchase this report:

  • The market estimate (ME) sheet in Excel format
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  • 1.1 Study Assumptions and Market Definition
  • 1.2 Scope of the Study




  • 4.1 Market Overview
  • 4.2 Market Drivers
    • 4.2.1 Need for Accurate Diagnosis
    • 4.2.2 Development in Genetic Testing Technologies
    • 4.2.3 More Government Initiatives for Rare Diseases
  • 4.3 Market Restraints
    • 4.3.1 Lack of Awareness Regarding Rare Diseases
    • 4.3.2 Limited Resources for Research
  • 4.4 Industry Attractiveness - Porter's Five Forces Analysis
    • 4.4.1 Bargaining Power of Buyers/Consumers
    • 4.4.2 Bargaining Power of Suppliers
    • 4.4.3 Threat of New Entrants
    • 4.4.4 Threat of Substitute Products
    • 4.4.5 Intensity of Competitive Rivalry


  • 5.1 By Technology
    • 5.1.1 Next-generation Sequencing
      • Whole Exome Sequencing (WES)
      • Whole Genome Sequencing (WGS)
    • 5.1.2 Array Technology
    • 5.1.3 PCR-based Testing
    • 5.1.4 FISH
    • 5.1.5 Other Technologies
  • 5.2 By Disease
    • 5.2.1 Neurological Disorders
    • 5.2.2 Immunological Disorders
    • 5.2.3 Hematology Diseases
    • 5.2.4 Endocrine and Metabolism Diseases
    • 5.2.5 Cancer
    • 5.2.6 Musculoskeletal Disorders
    • 5.2.7 Other Diseases
  • 5.3 By End User
    • 5.3.1 Clinics/Hospitals
    • 5.3.2 Diagnostic Laboratories
    • 5.3.3 Other End Users
  • 5.4 By Geography
    • 5.4.1 North America
      • United States
      • Canada
      • Mexico
    • 5.4.2 Europe
      • Germany
      • United Kingdom
      • France
      • Italy
      • Spain
      • Rest of Europe
    • 5.4.3 Asia-Pacific
      • China
      • Japan
      • India
      • Australia
      • South Korea
      • Rest of Asia-Pacific
    • 5.4.4 Rest of the World


  • 6.1 Company Profiles
    • 6.1.1 Quest Diagnostics Incorporated
    • 6.1.2 CENTOGENE NV
    • 6.1.3 Invitae Corporation
    • 6.1.4 3billion Inc.
    • 6.1.5 ARUP Laboratories
    • 6.1.6 Eurofins Scientific
    • 6.1.7 Strand Life Sciences
    • 6.1.8 Ambry Genetics
    • 6.1.9 PerkinElmer Genetics Inc.
    • 6.1.10 Macrogen Inc.
    • 6.1.11 Baylor Genetics
    • 6.1.12 Color Health Inc.
    • 6.1.13 Health Network Laboratories