Rare Disease Genetic Testing Market to Grow with a CAGR of 8.14% through 2030

Increasing advocacy of rare disease genetic testing and rising demand for personalized medications and initiatives taken by the government, is expected to drive the Global Rare Disease Genetic Testing Market growth in the forecast period, 2026-2030

According to TechSci Research report, “Rare Disease Genetic Testing Market – Global Industry Size, Share, Trends, Competition Forecast & Opportunities, 2030F”, the Global Rare Disease Genetic Testing Market stood at USD 881.23 Million in 2024 and is expected to reach USD 1411.30 Million by 2030 with a CAGR of 8.14% during the forecast period. This can be ascribed to collaborations and partnerships among leading companies with a diverse approach to merge the expertise of individual companies and to strengthen their position in the market.

Rare Disease Genetic Testing is used for various purposes related to the diagnosis, prognosis, treatment, and management of rare genetic disorders. It involves analyzing an individual's DNA to identify specific genetic mutations or variations that may be responsible for the development of a rare disease. Significant demand for improved diagnostic capabilities across the globe represents one of the key factors creating a positive outlook for the market. Furthermore, the increasing prevalence of genetic based rare diseases as many rare diseases have a genetic component, meaning they result from specific genetic mutations is also driving the market growth. These healthcare industries are consumer-based, contributing to the economy by providing diagnosis along the timely diagnosis of disease so that proper treatment can be done. Genetic testing is used for population-wide screening to identify individuals at risk of a specific rare disease.

This approach can help target public health interventions and preventive measures lead to the increasing demand for diagnosis of Rare Disease Genetic Testing. According to a report published in April 2023, The prevalence of rare diseases remains unknown in low- and middle-income (LMIC) countries. Although the incidence of autosomal dominant (X-linked) and X-linked diseases is similar in LMIC and high-income (HIE) countries, the incidence of recessive (Monogenic) disorders is higher in HIE countries because consanguineous marriage in minority ethnic groups is more common in HIE countries. Therefore, the increasing demand for early diagnosis and intervention in the healthcare industry will drive the diagnosis of Rare Disease through Genetic Testing market. Genetic testing provides valuable information for developing personalized treatment plans for Endocrine & Metabolic disorders. Understanding the specific genetic mutations involved can guide the selection of targeted therapies and interventions across the globe represents one of the key factors stimulating the growth of the market.

Moreover, leading players operating in the industry are focusing on technological innovations to offer a better customer experience. They are also engaging in partnerships and collaborations to increase their brand presence. Apart from this, NGS technologies have revolutionized genetic testing by enabling the rapid and cost-effective sequencing of large portions of the genome. Whole exome sequencing (WES) and whole genome sequencing (WGS) have become increasingly utilized for identifying genetic variants associated with rare diseases. Moreover, this technology allows the analysis of individual cells at the genomic level, providing insights into genetic heterogeneity within tissues and organs. It has applications in understanding rare diseases that involve cellular mosaicism. This, along with the rising demand for precision and personalized medication, is driving the market. Governments worldwide acknowledge the economic and environmental significance of the Rare Disease Genetic Testing industry and have implemented various initiatives to foster its innovation and growth.

They also provide support for recognizing and respect individual preferences regarding genetic testing, including the choice to undergo testing, receive test results, and participate in research. These projects serve as tangible examples of innovation and encourage other industry players to embrace similar approaches. Collaboration plays a pivotal role in the pursuit of environmental sustainability within the Rare Disease Genetic Testings industry. The testing and diagnostics industry, historically associated with time consuming and having several errors in diagnosis the origins of medical testing and diagnostics can be traced back to ancient civilizations, where observational methods and physical examinations were used to assess health conditions because of this there is difficult to maintain the large number of data base. Testing and diagnosis are experiencing a fundamental transformation.

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The Global Rare Disease Genetic Testing Market is segmented into disease type, speciality, technology, end user, regional distribution, and company.

Based on the End User, Research Laboratories & CROs emerged as the fastest growing segment in the Global Rare Disease Genetic Testing Market during the forecast period. This growth is primarily fueled by the increasing need for advanced genetic research to understand the molecular basis of rare diseases. Research laboratories and CROs play a critical role in supporting pharmaceutical and biotechnology companies with genomic analysis, biomarker identification, and clinical trials, which are essential for developing targeted therapies for rare disorders. The rising number of collaborative research projects between academic institutions, CROs, and government bodies is accelerating the pace of innovation in genetic diagnostics. CROs, in particular, offer cost-effective and scalable testing services, making them a preferred partner for organizations lacking in-house genetic testing infrastructure.

Based on the Region, Asia-Pacific emerged as the fastest growing region in the Global Rare Disease Genetic Testing Market during the forecast period. This is due to the rising burden of rare diseases, growing population base, and expansion of healthcare access in rural and semi-urban areas are also key contributors to the rapid growth. Additionally, partnerships between global diagnostic companies and regional healthcare providers are enhancing availability and affordability of genetic testing services. Local biotech startups are gaining traction, further propelling innovation and market penetration. As the region witnesses continued economic growth and increasing adoption of precision medicine, the demand for rare disease genetic testing is expected to surge. The Asia-Pacific market is thus poised to be a major contributor to the global landscape, characterized by rapid technological adoption and supportive government frameworks.

Some of the major companies operating in the Global Rare Disease Genetic Testing Market are:

• Centogene N.V.
• Invitae Corp.
• 3billion, Inc.
• Arup Laboratories
• Eurofins Scientific
• Strand Life Sciences
• Ambry Genetics
• Perkin Elmer, Inc.
• Realm IDX, Inc.
• Macrogen, Inc.
• Baylor Genetics
  
  

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“The Global Rare Disease Genetic Testing Market is expanding due to the increasing focus on rare disease registries and patient data collection initiatives, which are helping to identify genetic mutations and improve disease understanding. These registries facilitate the creation of large datasets that allow researchers to track genetic variations and their effects on rare diseases. The availability of such data enables the development of more targeted and effective diagnostic tests. As governments and healthcare organizations invest in these initiatives, they are fostering collaboration between researchers, genetic testing companies, and healthcare providers, driving the growth of genetic testing for rare diseases.,” said Mr. Karan Chechi, Research Director of TechSci Research, a research-based management consulting firm. 

“Rare Disease Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type (Neurological Disease, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders (CVDs), Dermatology Disease, Others), By Speciality (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests), By Technology (Next-Generation Sequencing (NGS), Whole Exome Sequencing, Whole Genome Sequencing, Array Technology, PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), By End User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories), By Region and Competition, 2020-2030F”, has evaluated the future growth potential of Global Rare Disease Genetic Testing Market and provides statistics & information on market size, structure and future market growth. The report intends to provide cutting-edge market intelligence and help decision makers take sound investment decisions. Besides, the report also identifies and analyzes the emerging trends along with essential drivers, challenges, and opportunities in Global Rare Disease Genetic Testing Market.

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