Rare Disease Genetic Testing Market by Disease Type, Technology, Specialty, End-User

Description

List of Tables

[181 Pages Report] The Rare Disease Genetic Testing Market size was estimated at USD 1.33 billion in 2023 and expected to reach USD 1.54 billion in 2024, at a CAGR 16.15% to reach USD 3.80 billion by 2030.

Rare disease genetic testing refers to the process of analyzing DNA, RNA, chromosomes, proteins, or certain metabolites to identify genetic mutations or abnormalities that may lead to a rare disease. Since rare diseases are predominantly genetic in origin, such tests are pivotal for early and accurate diagnosis. Advances in genomic technologies have significantly reduced the cost and increased the speed and accuracy of genetic tests. Moreover, there is a growing awareness and understanding of the importance of early and precise diagnosis in managing rare diseases, which has led to a rise in demand for these tests. However, the possibility of uncertain or ambiguous results and issues related to privacy, and the potential for genetic discrimination impact the utility of genetic testing. To address these issues, stringent guidelines and regulations must be enforced to ensure the privacy and ethical conduct of genetic testing. With ongoing scientific advancements, the development of more sophisticated and comprehensive testing methods, such as next-generation sequencing, is on the horizon. Additionally, there is an increasing trend toward consumer-driven healthcare, which may bolster the market for direct-to-consumer genetic testing kits.

KEY MARKET STATISTICS
Base Year [2023]	USD 1.33 billion
Estimated Year [2024]	USD 1.54 billion
Forecast Year [2030]	USD 3.80 billion
CAGR (%)	16.15%

Disease Type: Development of advanced tests to cater to the screening needs of rare genetic diseases

Genetic tests for rare cancers can identify hereditary or somatic mutations that drive tumorigenesis. Such tests are critical for personalized medicine approaches, as they can inform targeted therapies. Genetic testing for cardiovascular disorders can pinpoint mutations that contribute to conditions such as cardiomyopathies and arrhythmias, which have significant implications for patient management and family screening. Rare genetic skin diseases, such as epidermolysis bullosa, have been the focus of genetic diagnostic tests to help with management and potential gene therapy. Conditions such as congenital adrenal hyperplasia and phenylketonuria require genetic testing to confirm diagnoses and enable dietary and medical interventions. Genetic tests for rare hematological conditions, namely hemophilia and sickle cell disease, are valuable for treatment decisions, prognosis, and genetic counseling. Immunological disorders such as primary immunodeficiencies where genetic testing can determine specific immune dysfunctions to guide appropriate treatments. Rare genetic disorders affecting the musculoskeletal system, including Duchenne Muscular Dystrophy, benefit from genetic testing for early intervention and genetic counseling. Genetic tests for disorders such as Huntington's disease and various ataxias are essential for prognosis, symptomatic treatment plans, and reproductive decisions.

End-User: Emerging studies on rare genetic testing in research laboratories in academic institutes

Diagnostic laboratories play a pivotal role in the rare disease genetic testing market as a primary setting for conducting genetic analyses. The need-based preference for diagnostic laboratories arises from their expertise in providing comprehensive genetic testing services, which are essential for accurate diagnosis and guiding treatment plans. These laboratories are well-equipped with advanced technologies capable of performing a wide array of genetic assays, from sequencing to gene panels. Hospitals and clinics represent another critical end-user of rare disease genetic testing, offering direct patient care and diagnosis. These settings prioritize genetic testing services that integrate seamlessly with patient management and allow for multidisciplinary approaches to care. Research laboratories and contract research organizations (CROs) are specialized end-users whose preference for rare disease genetic testing is driven by the need to support research initiatives or drug development. These settings use genetic testing for understanding disease pathology, identifying biomarkers, and advancing clinical trials.

Regional Insights

The Americas exhibit a robust genetic testing infrastructure and a high awareness level among healthcare providers and patients, bolstered by a strong presence of leading companies and supportive regulatory frameworks. Reimbursement policies and investments in rare disease research contribute to the widespread use and production of genetic tests. The APAC region, while rapidly growing, reveals disparities in access and adoption of rare disease genetic testing. Japan and Australia lead with advancements in technology and increasing government support. Collaborations with global entities shape the production and use in this region, and a growing number of local players are investing in R&D. Meanwhile, the EMEA region presents a diverse landscape; Western Europe mirrors the Americas in terms of technology adoption and production capabilities, with well-established companies driving growth. The EU's regulations, including GDPR, impact genetic data usage, having both positive and negative implications on the market. The Middle East and Africa are nascent markets where awareness is gradually increasing. Genetic testing in these areas is sporadically utilized, primarily facilitated by international aid and partnerships. Companies range from large multinational diagnostics firms to specialized biotechs focused on rare disease genetics in this region.

FPNV Positioning Matrix

The FPNV Positioning Matrix is pivotal in evaluating the Rare Disease Genetic Testing Market. It offers a comprehensive assessment of vendors, examining key metrics related to Business Strategy and Product Satisfaction. This in-depth analysis empowers users to make well-informed decisions aligned with their requirements. Based on the evaluation, the vendors are then categorized into four distinct quadrants representing varying levels of success: Forefront (F), Pathfinder (P), Niche (N), or Vital (V).

Market Share Analysis

The Market Share Analysis is a comprehensive tool that provides an insightful and in-depth examination of the current state of vendors in the Rare Disease Genetic Testing Market. By meticulously comparing and analyzing vendor contributions in terms of overall revenue, customer base, and other key metrics, we can offer companies a greater understanding of their performance and the challenges they face when competing for market share. Additionally, this analysis provides valuable insights into the competitive nature of the sector, including factors such as accumulation, fragmentation dominance, and amalgamation traits observed over the base year period studied. With this expanded level of detail, vendors can make more informed decisions and devise effective strategies to gain a competitive edge in the market.

Key Company Profiles

The report delves into recent significant developments in the Rare Disease Genetic Testing Market, highlighting leading vendors and their innovative profiles. These include 3billion, Inc., Ambry Genetics Corporation, Arup Laboratories, Baylor Genetics, Biora Therapeutics, Inc., Blueprint Genetics Oy, Caris Life Sciences, Centogene N.V., Color Health, Inc., F. Hoffmann-La Roche Ltd., Fulgent Genetics, Inc., GeneDx, LLC, Genomelink, Inc., Helix OpCo, LLC, Illumina, Inc., Integrated DNA Technologies, Inc. by Danaher Corporation, Invitae Corporation, Laboratory Corporation Of America Holdings, Macrogen, Inc., Myriad Genetics, Inc., Nonacus Limited, OPKO Health, Inc., PerkinElmer Inc., QIAGEN N.V., Quest Diagnostics Incorporated, Realm IDX, Inc., Sanofi S.A., The Cooper Companies, Inc., Thermo Fisher Scientific Inc., and Variantyx, Inc..

Market Segmentation & Coverage

This research report categorizes the Rare Disease Genetic Testing Market to forecast the revenues and analyze trends in each of the following sub-markets:

Disease Type
- Cancer
- Cardiovascular Disorders
- Dermatology Diseases
- Endocrine & Metabolism Diseases
- Hematology Diseases
- Immunological Disorders
- Musculoskeletal Disorders
- Neurological Disorders

Technology
- Array Technology
- FISH
- Karyotyping
- Next Generation Sequencing
  - Whole Exome Sequencing
  - Whole Genome Sequencing

PCR - Based Testing
Sanger Sequencing

Specialty
- Biochemical Genetic Tests
- Chromosomal Genetic Tests
- Molecular Genetic Tests

End-User
- Diagnostic Laboratories
- Hospitals & Clinics
- Research Laboratories & CROs

Region
- Americas
  - Argentina
  - Brazil
  - Canada
  - Mexico
  - United States
    - California
    - Florida
    - Illinois
    - New York
    - Ohio
    - Pennsylvania
    - Texas
- Asia-Pacific
  - Australia
  - China
  - India
  - Indonesia
  - Japan
  - Malaysia
  - Philippines
  - Singapore
  - South Korea
  - Taiwan
  - Thailand
  - Vietnam

Europe, Middle East & Africa
- Denmark
- Egypt
- Finland
- France
- Germany
- Israel
- Italy
- Netherlands
- Nigeria
- Norway
- Poland
- Qatar
- Russia
- Saudi Arabia
- South Africa
- Spain
- Sweden
- Switzerland
- Turkey
- United Arab Emirates
- United Kingdom

The report offers valuable insights on the following aspects:

1. Market Penetration: It presents comprehensive information on the market provided by key players.

2. Market Development: It delves deep into lucrative emerging markets and analyzes the penetration across mature market segments.

3. Market Diversification: It provides detailed information on new product launches, untapped geographic regions, recent developments, and investments.

4. Competitive Assessment & Intelligence: It conducts an exhaustive assessment of market shares, strategies, products, certifications, regulatory approvals, patent landscape, and manufacturing capabilities of the leading players.

5. Product Development & Innovation: It offers intelligent insights on future technologies, R&D activities, and breakthrough product developments.

The report addresses key questions such as:

1. What is the market size and forecast of the Rare Disease Genetic Testing Market?

2. Which products, segments, applications, and areas should one consider investing in over the forecast period in the Rare Disease Genetic Testing Market?

3. What are the technology trends and regulatory frameworks in the Rare Disease Genetic Testing Market?

4. What is the market share of the leading vendors in the Rare Disease Genetic Testing Market?

5. Which modes and strategic moves are suitable for entering the Rare Disease Genetic Testing Market?

Product Code: MRR-B9334AD6C623

1. Preface

1.1. Objectives of the Study
1.2. Market Segmentation & Coverage
1.3. Years Considered for the Study
1.4. Currency & Pricing
1.5. Language
1.6. Stakeholders

2. Research Methodology

2.1. Define: Research Objective
2.2. Determine: Research Design
2.3. Prepare: Research Instrument
2.4. Collect: Data Source
2.5. Analyze: Data Interpretation
2.6. Formulate: Data Verification
2.7. Publish: Research Report
2.8. Repeat: Report Update

3. Executive Summary

4. Market Overview

5. Market Insights

5.1. Market Dynamics
- 5.1.1. Drivers
  - 5.1.1.1. Prevalence of Rare Genetic Disease and Need for Early & Rapid Diagnosis
  - 5.1.1.2. Rising Use in Translational & Genomic Research for Identification of Novel Mutations
  - 5.1.1.3. Government Initiatives for Diagnosis and Treatment of Rare Diseases
- 5.1.2. Restraints
  - 5.1.2.1. Ethical Concerns and Access to Limited Information on Rare Disease
- 5.1.3. Opportunities
  - 5.1.3.1. Advancements in Genetic Technology to Identify New Rare Disease Genes
  - 5.1.3.2. Favorable Investments for Diagnosis of Rare Genetic Diseases
- 5.1.4. Challenges
  - 5.1.4.1. Stringent Regulations Associated with the Approval Process of New Rare Diseases Genetic Test
5.2. Market Segmentation Analysis
- 5.2.1. Disease Type: Development of advanced tests to cater to the screening needs of rare genetic diseases
- 5.2.2. End-User: Emerging studies on rare genetic testing in research laboratories in academic institutes
5.3. Market Trend Analysis
5.4. Cumulative Impact of Russia-Ukraine Conflict
5.5. Cumulative Impact of High Inflation
5.6. Porter's Five Forces Analysis
- 5.6.1. Threat of New Entrants
- 5.6.2. Threat of Substitutes
- 5.6.3. Bargaining Power of Customers
- 5.6.4. Bargaining Power of Suppliers
- 5.6.5. Industry Rivalry
5.7. Value Chain & Critical Path Analysis
5.8. Regulatory Framework Analysis
5.9. Client Customization

6. Rare Disease Genetic Testing Market, by Disease Type

6.1. Introduction
6.2. Cancer
6.3. Cardiovascular Disorders
6.4. Dermatology Diseases
6.5. Endocrine & Metabolism Diseases
6.6. Hematology Diseases
6.7. Immunological Disorders
6.8. Musculoskeletal Disorders
6.9. Neurological Disorders

7. Rare Disease Genetic Testing Market, by Technology

7.1. Introduction
7.2. Array Technology
7.3. FISH
7.4. Karyotyping
7.5. Next Generation Sequencing
7.6. PCR - Based Testing
7.7. Sanger Sequencing

8. Rare Disease Genetic Testing Market, by Specialty

8.1. Introduction
8.2. Biochemical Genetic Tests
8.3. Chromosomal Genetic Tests
8.4. Molecular Genetic Tests

9. Rare Disease Genetic Testing Market, by End-User

9.1. Introduction
9.2. Diagnostic Laboratories
9.3. Hospitals & Clinics
9.4. Research Laboratories & CROs

10. Americas Rare Disease Genetic Testing Market

10.1. Introduction
10.2. Argentina
10.3. Brazil
10.4. Canada
10.5. Mexico
10.6. United States

11. Asia-Pacific Rare Disease Genetic Testing Market

11.1. Introduction
11.2. Australia
11.3. China
11.4. India
11.5. Indonesia
11.6. Japan
11.7. Malaysia
11.8. Philippines
11.9. Singapore
11.10. South Korea
11.11. Taiwan
11.12. Thailand
11.13. Vietnam

12. Europe, Middle East & Africa Rare Disease Genetic Testing Market

12.1. Introduction
12.2. Denmark
12.3. Egypt
12.4. Finland
12.5. France
12.6. Germany
12.7. Israel
12.8. Italy
12.9. Netherlands
12.10. Nigeria
12.11. Norway
12.12. Poland
12.13. Qatar
12.14. Russia
12.15. Saudi Arabia
12.16. South Africa
12.17. Spain
12.18. Sweden
12.19. Switzerland
12.20. Turkey
12.21. United Arab Emirates
12.22. United Kingdom

13. Competitive Landscape

13.1. Market Share Analysis, 2023
13.2. FPNV Positioning Matrix, 2023
13.3. Competitive Scenario Analysis
- 13.3.1. Burjeel Holdings To Launch Rare Disease Research & Development Project 'Nader' In Partnership With US-Based Bridgebio Pharma
- 13.3.2. NIH Launches USD 140 Million Effort To Investigate Genetic Variation In Normal Human Cells And Tissues
- 13.3.3. CENTOGENE Launches NEW CentoGenome, A Whole Genome Sequencing Solution for Diagnosis of Rare and Neurodegenerative Diseases

14. Competitive Portfolio

14.1. Key Company Profiles
14.2. Key Product Portfolio