Global and Regional Rare Disease Genetic Testing Market Report 2023-2033: Early Detection Demand and Innovative Systems Usher in New Era for Rare Disease Genetic Testing

DUBLIN, Oct. 3, 2023 /PRNewswire/ — The “Rare Disease Genetic Testing Market – A Global and Regional Analysis: Focus on Disease Type, Offering, Specialty Type, Sample Type, Trait Type, Technology, Age Group, End User, and Country Analysis – Analysis and Forecast, 2023-2033” report has been added to’s offering.

The global rare disease genetic testing market was valued at $4.11 billion in 2022 and is anticipated to reach $16.69 billion by 2033, witnessing a CAGR of 13.69% during the forecast period 2023-2033

Leading-edge technologies such as whole-genome sequencing (WGS) and whole-exome sequencing (WES) involve the thorough examination of an individual’s complete genetic code (genome) or specific protein-coding regions (exome). These cutting-edge methodologies play a crucial role in pinpointing genetic variations, mutations, or abnormalities responsible for rare diseases.

In the era preceding Next-Generation Sequencing (NGS), which encompasses WGS and WES, healthcare professionals depended on Sanger sequencing-based tests. While these tests could identify rare diseases, they were exceptionally time-consuming. Moreover, physicians had to grapple with a general diagnostic odyssey or conventional diagnosis until conclusive results were obtained.

This protracted process often led to delays in treatment. The global market for rare disease genetic testing encompasses an array of panels and tests that excel in detecting rare diseases. These diagnostics predominantly rely on polymerase chain reaction (PCR) and next-generation sequencing (NGS). Among the most prevalent rare disease genetic testing panels are those tailored for gastroenterology, endocrine and metabolic disorders, and neurological diseases.

The global rare disease genetic testing market has experienced remarkable growth, driven by the escalating demand for early detection of rare diseases. The increasing incidence of rare diseases has emerged as a pivotal factor fueling market expansion. Additionally, there is growing recognition and emphasis on the early identification and prevention of rare diseases, particularly in pediatric populations worldwide, contributing to the market’s growth trajectory.

Rare disease genetic testing holds vast potential for ushering in advanced healthcare solutions. Notably, in January 2023, a collaborative effort involving BGI Genomics, the National Centre for Cardiovascular Diseases, Fuwai Hospital, and the State Key Laboratory of Cardiovascular Diseases resulted in the development of the “CardioGen automated interpretation system.”

This innovative system serves as a comprehensive genotype and phenotype database for monogenic cardiovascular diseases. Other factors bolstering market growth include heightened patient demand and the swift turnaround time of these tests.

Market Segmentation

Endocrine and Metabolism Disease Segment to Dominate the Global Rare Disease Genetic Testing Market

Based on disease type, the rare disease genetic testing market is led by endocrine and metabolism, which held a 21.88% share in 2022.

The burden of endocrine and metabolism diseases often has a high prevalence in the general population, making their diagnosis and management particularly challenging. Their diagnosis addresses genetic testing such as NGS. Further, it also includes biomarker analysis, newborn screening, and molecular diagnostic techniques.

Services Segment to Dominate the Global Rare Disease Genetic Testing Market

Based on offerings, the rare disease genetic testing market is led by services, which held an 81.58% share in 2022.

Services are specifically tailored to meet the distinct requirements of individuals affected by rare diseases, healthcare professionals, and researchers engaged in this field. The availability of these services complements the use of diagnostic products and facilitates comprehensive and personalized rare disease genetic testing.

Molecular Genetic Tests Occupying the Largest Share in the Market

Based on specialty type, the rare disease genetic testing market is led by molecular genetic tests, which held a 58.89% share in 2022.

The key reason for the increasing popularity of molecular genetic testing is that it provides crucial information for genetic counseling and family planning for individuals and families affected by rare diseases. By identifying specific genetic mutations, families can gain insights into the likelihood of disease inheritance and assess the risk of passing on the condition to future generations. This type of testing is utilized to identify genetic disorders in newborns, allowing for prompt intervention and treatment initiation.

Blood Sample to Witness the Highest Growth Between 2023 and 2033

Based on sample type, the rare disease genetic testing market is led by blood samples, and it held a 33.99% share in 2022.

Blood samples undergo processing to isolate different components, including white blood cells, serum, or plasma. These isolated components are then subjected to further analysis to detect genetic abnormalities, identify biochemical markers, or explore other diagnostic indicators. Genetic testing methods such as PCR, DNA sequencing, and microarrays can be employed on blood samples to identify specific genetic mutations that are associated with rare diseases.

Inherited Trait to Witness the Highest Growth between 2023 and 2033

Based on trait type, the rare disease genetic testing market is led by inherited traits, which held an 82.59% share in 2022.

Inherited traits are characteristics or conditions that are passed down from parents to their offspring through genetic material, i.e., DNA. These traits result from variations or mutations in the genes and can increase the risk of developing certain rare diseases.

NGS to Dominate the Global Rare Disease Genetic Testing Market

Based on technology, the rare disease genetic testing market is led by next-generation sequencing (NGS), and it held a 43.80% share in 2022.

NGS technology provides higher sensitivity and specificity in detecting genetic variants, including single-nucleotide variants (SNVs), insertions, deletions, and structural rearrangements. This technology also extends its applications to non-invasive prenatal testing, including the detection of fetal chromosomal abnormalities associated with certain rare genetic conditions.

Prenatal to Witness the Highest Growth between 2023 and 2033

Based on age group, the rare disease genetic testing market is led by the prenatal age group, which held a 39.68% share in 2022.

Prenatal testing and diagnostics play a crucial role in identifying potential rare diseases and congenital abnormalities in the fetus. Prenatal testing methods such as chorionic villus sampling (CVS) and amniocentesis are employed to detect genetic disorders or developmental issues.

Hospitals to Dominate the Global Rare Disease Genetic Testing Market

Based on end users, the rare disease genetic testing market is led by hospitals, which recorded a 53.12% share in 2022.

Hospitals are at the forefront of adopting syndromic testing panels into routine healthcare procedures. Hospitals, particularly in leading regions such as North America and Europe, and also to a certain extent in Asia-Pacific, have incorporated syndromic testing panels and assays to provide superior care to patients.

Regional Analysis

Regions such as North America and Europe have technologically advanced industries and allocate considerable budgets to research and development (R&D) activities. Moreover, a maximum number of rare disease testing is done there, due to which these regions hold the maximum share in the global rare disease genetic testing market.

Key Market Players and Competition Synopsis

The companies that are profiled have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

Market Dynamics

Market Drivers

  • Rapid Technological Advancements in Rare Disease Diagnosis
  • Rising Prevalence of Genetic Disorders and Congenital Disorders
  • Growing Recognition and Emphasis on Early Detection and Prevention of Rare Diseases in Pediatric Populations

Market Challenges

  • Lack of Consolidation of Information Leading to Difficulty in Diagnosis
  • Significant Capital Requirement for Research and Development Hindering Global Expansion Efforts

Market Opportunities

  • Whole Genome Sequencing Putting an End to the Rare Disease Genetic Testing Odysseys
  • AI-Based Diagnostic Tools Diagnosing Rare Diseases by Identifying Potential Diagnoses
  • Transitioning toward Increased Genetics Coverage in Reimbursement Policies

Competitive Benchmarking

  • Key Strategies and Developments
  • Funding Activities
  • New Offerings, Product Upgradation, and Approvals
  • Mergers and Acquisitions
  • Partnerships, Collaborations, And Business Expansion
  • Market Share Analysis
  • Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Products
  • Rare Disease Genetic Testing Market, Market Share Analysis of Companies Offering Services.
  • Growth-Share Analysis
  • By Disease Type
  • By Technology Type

Company Profiles

  • Company Overview
  • Role in the Global Rare Disease Genetic Testing Market
  • Financials
  • Recent Developments
  • Analyst Perspective
    • 23andMe Holding Co.
    • 3billion, Inc.
    • Agilent Technologies, Inc.
    • Konica Minolta (Ambry Genetics, Inc.)
    • BGI Group
    • Eurofins Scientific SE
    • GeneDx, Holdings Corp.
    • Azenta U.S., Inc. (GENEWIZ, Inc.)
    • Illumina, Inc.
    • Invitae Corporation
    • Laboratory Corporation of America Holdings
    • Medgenome
    • Myriad Genetics, Inc.
    • OPKO Health, Inc.
    • PerkinElmer, Inc.
    • Exact Sciences Corporation (Prevention Genetics)
    • QIAGEN N.V.
    • Quest Diagnostics Incorporated
    • Strand Life Science Pvt Ltd.

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