Rare Disease Genetic Testing Market - Growth, Trends, COVID-19 Impact, and Forecasts (2022 - 2027)

The Rare Disease Genetic Testing Market is Segmented by Technology (Next-generation Sequencing, Array Technology, PCR-based Testing, FISH, and Other Technologies), Disease (Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine and Metabolism Diseases, Cancer, Musculoskeletal Disorders, and Other Diseases), End User (Clinics/Hospitals, Diagnostic Laboratories, and Other End Users), and Geography (North America, Europe, Asia-Pacific, and Rest of the World). The report offers the value (in USD million) for the above segments.

Market Snapshot

CAGR Graph
Study Period: 2018-2026
Base Year: 2021
Fastest Growing Market: Asia Pacific
Largest Market: North America
CAGR: 10 %

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Market Overview

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

The impact of the COVID-19 pandemic on the rare disease genetic testing market is significant. The rise in COVID-19 cases has led to global healthcare services shifting 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 the patients studied had experienced interrupted care, and 80% canceled or postponed their appointments. The inability to access healthcare 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. The time taken for patients to give their blood samples in Canada’s Cancer Center was also longer. The pandemic led to the shutdown of companies and other non-healthcare businesses. The lack of healthcare services and canceled/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, of whom 30 million are Americans. There are 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 the market. A national cross-sectional survey published in the Orphanet Journal of Rare Diseases, which included 2040 rare disease patients in China, concluded that patients who have difficulty accessing disease-related information are four to five times more likely to get misdiagnosed. In 2018, EURORDIS, Microsoft, and Takeda came together to launch the Global Commission to End Diagnostic Odyssey for Children with a Rare Diseases, which includes a Machine Learning and Blockchain-supported patient registry to find patterns and symptoms of rare diseases, raise awareness among the public and physicians, and give patients and their families control of their health records. In January 2021, the 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 five years. The launch of new technologies, such as NGS-based genetic testing, and the increased demand for diagnosis and government initiatives may contribute to the growth of the rare disease genetic testing market.

The underdiagnosis of a rare disease may often happen for extended periods due to the limited awareness of patients, families, and physicians. In April 2021, a survey was conducted in China involving 224 physicians, of whom 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 and undiagnosed diseases, to collect information regarding unidentified rare medical cases through electronic surveys. Rare diseases affect 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 the limited understanding of the progression of the disease. Furthermore, most of these diseases affect children, which adds to the complexity of the process. The lack of awareness of diagnosis and the challenges associated with clinical studies are likely to inhibit the market growth.

Scope of the Report

According to the European Legislation, a rare disease is defined as having a prevalence threshold of not more than 5 affected persons per 10,000. Most rare diseases are genetic disorders, and genetic testing is an advanced diagnostic tool that gives results within weeks. Additionally, genetic testing has made the diagnosis of genes responsible for rare diseases more possible. The rare disease genetic testing market is segmented by technology (next-generation sequencing, array technology, PCR-based testing, FISH, and other technologies), disease (neurological disorders, immunological disorders, hematology diseases, endocrine and metabolism diseases, cancer, musculoskeletal disorders, and other diseases), end user (clinics/hospitals, diagnostic laboratories, and other end users), and geography (North America, Europe, Asia-Pacific, and rest of the world). The report offers the value (in USD million) for the above segments.

By Technology
Next-generation Sequencing
Whole Exome Sequencing (WES)
Whole Genome Sequencing (WGS)
Array Technology
PCR-based Testing
FISH
Other Technologies
By Disease
Neurological Disorders
Immunological Disorders
Hematology Diseases
Endocrine and Metabolism Diseases
Cancer
Musculoskeletal Disorders
Other Diseases
By End User
Clinics/Hospitals
Diagnostic Laboratories
Other End Users
By Geography
North America
United States
Canada
Mexico
Europe
Germany
United Kingdom
France
Italy
Spain
Rest of Europe
Asia-Pacific
China
Japan
India
Australia
South Korea
Rest of Asia-Pacific
Rest of the World

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Key Market Trends

Next-Generation Sequencing (NGS) Expected to Occupy a Significant Market Share

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 in the work of research scientists and industries during the pandemic. The effective and rapid solutions from NGS have enabled the sequencing of multiple samples and detecting the virus. In December 2020, a report published by the 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 Whole Genome Sequencing (WGS). In June 2020, the US FDA gave the Emergency Use Authorization for Illumina Inc. to utilize its NGS-based technology, COVIDSeq, to detect COVID-19. The COVID-19 pandemic has indicated the true potential of this technique.

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 and contain 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 services by updating patients' reports regularly through the introduction of Routine Exome Reanalysis every six months for three years. Additionally, with the declining costs of exome sequencing, the overall costs of genetic testing may decrease, making it affordable.

Governments worldwide are increasingly getting involved in developing genome programs. One of them is the 100,000 Genomes Project in the United Kingdom, initiated to improve care for rare disease individuals, and the All of Us initiative for precision medicine in the United States. In January 2020, the Department of Biotechnology in India initiated a WGS project, called the Genome India Project (GIP), to collect 10,000 genetic samples to build a reference genome. Thus, the increasing application of NGS’s potential within different healthcare aspects is expected to contribute majorly to the growth of the market.

NIH Funding https://report.nih.gov/funding/categorical-spending#/

North America Expected to Dominate the 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 and received 3,400 responses. According to the survey, the pandemic negatively affected rare disease patients and caregivers due to the lack of access to healthcare, diet, and treatment. About 25% of those surveyed responded that their appointments were put on hold, and 45% switched to telemedicine. Nearly 40% of respondents' special treatments were 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 found in around 30 million Americans, according to Global Genes, and 3.1 million Canadians, according to the 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, the 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 the Orphan Drug Act and 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, of all the novel drugs 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 enable the region to occupy a major market share.

Regional Growth

Competitive Landscape

The rare disease genetic testing market is highly competitive, with many players. Due to the nature of the diseases, the demand for diagnosis is high. Moreover, the 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.

Recent Developments

  • In April 2021, Centogene announced a partnership with Takeda Pharmaceutical Company Limited to diagnose patients through access to Centogene's genetic testing capabilities. The agreement has been extended till March 2022.
  • In January 2020, Quest Diagnostics acquired Blueprint Genetics, which is a leading genetic testing company. This acquisition may strengthen the genetics portfolio of the company by adding value to its core technologies.

Table of Contents

  1. 1. INTRODUCTION

    1. 1.1 Study Assumptions and Market Definition

    2. 1.2 Scope of the Study

  2. 2. RESEARCH METHODOLOGY

  3. 3. EXECUTIVE SUMMARY

  4. 4. MARKET DYNAMICS

    1. 4.1 Market Overview

    2. 4.2 Market Drivers

      1. 4.2.1 Need for Accurate Diagnosis

      2. 4.2.2 Development in Genetic Testing Technologies

      3. 4.2.3 Increased Government Initiatives for Rare Diseases

    3. 4.3 Market Restraints

      1. 4.3.1 Lack of Awareness Regarding Rare Diseases

      2. 4.3.2 Limited Resources for Research

    4. 4.4 Industry Attractiveness - Porter's Five Forces Analysis

      1. 4.4.1 Bargaining Power of Buyers/Consumers

      2. 4.4.2 Bargaining Power of Suppliers

      3. 4.4.3 Threat of New Entrants

      4. 4.4.4 Threat of Substitute Products

      5. 4.4.5 Intensity of Competitive Rivalry

  5. 5. MARKET SEGMENTATION

    1. 5.1 By Technology

      1. 5.1.1 Next-generation Sequencing

        1. 5.1.1.1 Whole Exome Sequencing (WES)

        2. 5.1.1.2 Whole Genome Sequencing (WGS)

      2. 5.1.2 Array Technology

      3. 5.1.3 PCR-based Testing

      4. 5.1.4 FISH

      5. 5.1.5 Other Technologies

    2. 5.2 By Disease

      1. 5.2.1 Neurological Disorders

      2. 5.2.2 Immunological Disorders

      3. 5.2.3 Hematology Diseases

      4. 5.2.4 Endocrine and Metabolism Diseases

      5. 5.2.5 Cancer

      6. 5.2.6 Musculoskeletal Disorders

      7. 5.2.7 Other Diseases

    3. 5.3 By End User

      1. 5.3.1 Clinics/Hospitals

      2. 5.3.2 Diagnostic Laboratories

      3. 5.3.3 Other End Users

    4. 5.4 By Geography

      1. 5.4.1 North America

        1. 5.4.1.1 United States

        2. 5.4.1.2 Canada

        3. 5.4.1.3 Mexico

      2. 5.4.2 Europe

        1. 5.4.2.1 Germany

        2. 5.4.2.2 United Kingdom

        3. 5.4.2.3 France

        4. 5.4.2.4 Italy

        5. 5.4.2.5 Spain

        6. 5.4.2.6 Rest of Europe

      3. 5.4.3 Asia-Pacific

        1. 5.4.3.1 China

        2. 5.4.3.2 Japan

        3. 5.4.3.3 India

        4. 5.4.3.4 Australia

        5. 5.4.3.5 South Korea

        6. 5.4.3.6 Rest of Asia-Pacific

      4. 5.4.4 Rest of the World

  6. 6. COMPETITIVE LANDSCAPE

    1. 6.1 Company Profiles

      1. 6.1.1 Quest Diagnostics Incorporated

      2. 6.1.2 Centogene NV

      3. 6.1.3 Invitae Corporation

      4. 6.1.4 3billion Inc.

      5. 6.1.5 ARUP Laboratories

      6. 6.1.6 Eurofins Scientific

      7. 6.1.7 Strand Life Sciences

      8. 6.1.8 Ambry Genetics

      9. 6.1.9 PerkinElmer Genetics Inc.

      10. 6.1.10 Macrogen Inc.

      11. 6.1.11 Baylor Genetics

      12. 6.1.12 Color Health Inc.

      13. 6.1.13 Health Network Laboratories

    2. *List Not Exhaustive
  7. 7. MARKET OPPORTUNITIES AND FUTURE TRENDS

**Competitive Landscape covers- Business Overview, Financials, Products and Strategies and Recent Developments

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Frequently Asked Questions

The Rare Disease Genetic Testing Market market is studied from 2018 - 2026.

The Rare Disease Genetic Testing Market is growing at a CAGR of 10% over the next 5 years.

Asia Pacific is growing at the highest CAGR over 2021- 2026.

North America holds highest share in 2021.

Quest Diagnostics Incorporated, Invitae Corporation, 3billion Inc., Eurofins Scientific, CENTOGENE NV are the major companies operating in Rare Disease Genetic Testing Market.

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