Rare Disease Genetic Testing Market Size, Share, Industry, Forecast and outlook (2024-2031)

Rare Disease Genetic Testing Market is Segmented By Type (Neurological Disorders, Endocrine, Metabolism Diseases, Hematology Diseases, Immunological Disorders, Musculoskeletal, Others), By Technology (Next-Generation Sequencing, FISH, Array Technology, PCR-Based Testing, Sanger Sequencing, Karyotyping, Others), By Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By End User(Hospitals, Research Laboratories, Diagnostic Laboratories, Others), and by Region (North America, Latin America, Europe, Asia Pacific, Middle East, and Africa) – Share, Size, Outlook, and Opportunity Analysis, 2023 - 2030

Rare Disease Genetic Testing Market Overview

The Global Rare Disease Genetic Testing Market reached USD 0.8 billion in 2022 and is projected to witness lucrative growth by reaching up to USD 2.2 billion by 2030. The global rare disease genetic testing market is expected to exhibit a CAGR of 13.7% during the forecast period (2023-2030). The rare disease genetic testing market is a growing sector within the healthcare industry. It involves the analysis of a person's DNA to identify genetic variations associated with rare diseases.

The market is characterized by a high level of competition and innovation, with companies offering a wide range of genetic testing services and solutions. 

The global rare disease genetic testing market is projected to experience significant growth in the coming years, fueled by increasing awareness, supportive government initiatives and the expanding scope of precision medicine.

The global rare disease genetic testing market is driven by the factors such as the increasing prevalence of rare diseases, advancements in genetic sequencing technologies, growing awareness of rare diseases, increasing demand for expansion of precision medicine and increasing research and developments in rare disease genetic testing.

Rare Disease Genetic Testing Market Scope

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Rare Disease Genetic Testing Market Dynamics

Increasing Research and Developments Drive the Growth of the Rare Disease Genetic Testing Market

The research and development efforts contribute to the development of new and improved genetic testing technologies and methodologies. These advancements lead to more accurate, reliable and comprehensive tests, enhancing diagnostic capabilities for rare diseases. Innovative testing methods, such as whole-genome sequencing and gene panel testing, are continuously being developed, expanding the range of diseases that can be identified and increasing the market demand.

Research and Development initiatives help identify and characterize new genetic variations associated with rare diseases. Through extensive research and genomic studies, scientists can uncover previously unknown genetic mutations and markers that contribute to rare diseases. The identification of these genetic variations enables the development of targeted tests and treatments, driving the demand for genetic testing services.

For instance, on August 02, 2022, the Karnataka government launched the research and training unit for rare diseases here to further strengthen diagnosis, counseling and treatment, including developing a service facility for prenatal diagnosis for early identification of genetic disorders in pregnancy.

Increasing Demand for the Expansion of Precision Medicine Also Drives the Growth of the Rare Disease Genetic Testing Market

Precision medicine aims to provide personalized treatment strategies tailored to an individual's genetic profile. Genetic testing plays a crucial role in identifying genetic variations associated with rare diseases, enabling healthcare providers to develop personalized treatment plans. The demand for genetic testing services to guide precision medicine interventions drives the growth of the rare disease genetic testing market.

Genetic testing results help identify specific genetic mutations or variations that drive rare diseases. This information is instrumental in the development of targeted therapeutics designed to address the underlying genetic abnormalities. As precision medicine advances, there is an increasing need for accurate and comprehensive genetic testing to identify suitable candidates for targeted therapies, contributing to market growth.

For instance, on June 5, 2023, Dante Genomics, a global leader in genomics and precision medicine, announced the launch of its Rare Disease Health Package to revolutionize rare disease diagnosis with whole genome sequencing testing. The Rare Disease Health Package includes pre- and post-telemedicine consultations, providing access to specialists who may not be available in a patient's area. Dante removes financial barriers to care by identifying potential treatments and management strategies for rare diseases.

The High Cost of Genetic Testing Will Hamper the Growth of the Rare Disease Genetic Testing Market. 

The high cost of genetic testing can make it financially burdensome for individuals, particularly those without adequate insurance coverage or limited financial resources. In some cases, the out-of-pocket expenses associated with genetic testing may be prohibitively high, deterring individuals from seeking testing services. This affordability barrier can restrict the market's growth potential and limit access to genetic testing for rare diseases.

Rare Disease Genetic Testing Market Segment Analysis

The global rare disease genetic testing market is segmented based on disease type, technology, specialty, end user and region.

The Next-Generation Sequencing Technology Segment Accounted for Approximately 35.3% of the Rare Disease Genetic Testing Market Share

The next-generation sequencing technology enables the simultaneous analysis of multiple genes or the entire genome, providing a comprehensive view of an individual's genetic makeup. It allows for high-throughput sequencing, enabling the analysis of a large number of samples efficiently. The ability to generate vast amounts of sequencing data cost-effectively makes NGS a preferred choice for rare disease genetic testing. 

For instance, in April 2023, Centogene N.V., the essential life science partner for data-driven answers in rare and neurodegenerative diseases, announced the launch of NEW CentoGenome, an enhanced Next Generation Sequencing (NGS)-based assay. Healthcare professionals can leverage NEW CentoGenome to provide more comprehensive diagnostic information, which could accelerate access to potential treatment options. 

Next-generation sequencing technology facilitates the development of gene panels, exome sequencing and whole-genome sequencing, which cover a wide range of rare diseases. These testing approaches comprehensively assess genetic variations associated with rare diseases, allowing for accurate and efficient diagnosis. The versatility and flexibility of NGS in addressing different rare diseases contribute to its market dominance.

For instance, in March 2023, Illumina Inc., a global leader in DNA sequencing and array-based technologies, announced the release of Connected Insights, a new cloud-based software enabling tertiary analysis for clinical next-generation sequencing (NGS) data for rare genetic diseases.

Source: DataM Intelligence Analysis (2023)

Rare Disease Genetic Testing Market Geographical Penetration

North America Accounted for Approximately 40.7% of the Market Share in 2022, Owing to the Rising Prevalence and Increasing Research and Development Activities

North America has witnessed an increase in the prevalence of rare diseases, driving the demand for genetic testing services. Factors such as improved disease recognition, advanced healthcare infrastructure and increased awareness among healthcare providers and patients have contributed to the identification and diagnosis of rare diseases, thereby boosting the market for genetic testing.

North America has a well-established research and development ecosystem, with a strong focus on rare diseases. Academic institutions, research organizations and biotechnology companies in the region actively engage in research and clinical trials to expand the understanding of rare diseases and develop new testing methodologies. This emphasis on R&D drives market growth and fuels innovation in rare disease genetic testing.

Source: DataM Intelligence Analysis (2023)

Rare Disease Genetic Testing Market Players

The major global players in the rare disease genetic testing market include Quest Diagnostics Inc, Arup Laboratories, Strand Life Sciences, Ambry Genetics, 3billion, Inc., Macrogen Inc, Color Genomics Inc, Centogene NV, Invitae Corporation and Myriad Genetics Inc.

COVID-19 Impact on Rare Disease Genetic Testing Market

Russia-Ukraine Conflict Analysis

The Russia-Ukraine conflict is estimated to have a significant impact on the global rare disease genetic testing market. In times of conflict, governments often prioritize defense and security expenditures, which can lead to budget cuts in other areas, including healthcare and research funding. This reduction in funding may limit research and development activities in the rare disease genetic testing field, potentially slowing down progress and innovation.

Key Developments

• On February 27, 2023, Rhythm Pharmaceuticals, Inc., a global commercial-stage biopharmaceutical company, announced that Rhythm’s Netherlands subsidiary, Rhythm Pharmaceuticals Netherlands B.V., acquired Xinvento B.V., a Netherlands-based biotech company focused on developing therapies for congenital hyperinsulinism (CHI). 

CHI is a rare genetic disease in which cells secrete excess insulin, causing hypoglycemia, which can result in serious health outcomes including seizures, coma, permanent brain damage and death.

• On March 01, 2023, MedGenome Labs announced the launch of a ground-breaking first-ever Facioscapulohumeral Muscular Dystrophy Type 1 (FSHD1) test in India. MedGenome Labs is the first commercial lab to offer this new genetic test that will help individuals with FSHD1 to get an early and accurate diagnosis, leading to improved disease management options.

Why Purchase the Report?

• To visualize the global rare disease genetic testing market segmentation based on disease type, technology, specialty, end-user and region, as well as understand key commercial assets and players.
• Identify commercial opportunities by analyzing trends and co-development. 
• Excel data sheet with numerous data points of rare disease genetic testing market-level with all segments.
• PDF report consists of a comprehensive analysis after exhaustive qualitative interviews and an in-depth study.
• Product mapping available as Excel consisting of key products of all the major players.

The Global Rare Disease Genetic Market Report Would Provide Approximately 53 Tables, 54 Figures and 195 Pages.