The global rare disease genetic testing market size was valued at USD 918.45 million in 2020 and is expected to expand at a substantial CAGR during the forecast period, 2021-2028. The growth of the market is attributed to the rising number of patient registrations suffering from rare genetic disorders.
Rare disease genetic testing is a test taken by an individual to determine if there is any change that occurred in the structure of DNA, which results in the birth of any rare disorder. Such testing helps the experts to gain knowledge about the threats possessed by the particular disease to an individual and also offer to develop right treatments customized for that individual. Numerous countries took the initiative to register these rare disorders so that all the information can be found in one place and can also be used to help others by providing the details and database.
Companies such as Shire Pic have helped several countries to set up diagnostic testing centers and enable the experts to gain more knowledge on rare genetic diseases and genetic testing. The outbreak of the COVID-19 pandemic had provided opportunity to boost the rare disease genetic testing market. Due to the pandemic, most of the major global players of the clinical diagnostic sector were provided opportunities to expand their product portfolio and develop a series of diagnostic kits to detect the coronavirus. Moreover, several laboratories and clinical centers are increasingly conducting clinical experiments using the diagnostic devices to determine the capacities and types of antibodies for the virus prevention.
Market Trends, Drivers, Restraints, and Opportunities
Scope of the Project
The report on the global rare disease genetic testing market includes an assessment of the market, trends, segment, and regional markets. Overview and dynamics have also been included in the report.
Rare Disease Genetic Testing Market - Global Industry Analysis, Growth, Share, Size, Trends, and Forecast
Disease Types (Neurological Disorders, Immunological Disorders, Hematology Diseases, Endocrine & Metabolism Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disorders, Dermatology Disease, and Others), Technology (Next-generation Sequencing [Whole Exome Sequencing and Whole Genome Sequencing], Array Technology, PCR-based Testing, FISH, Sanger Sequencing, and Karyotyping), Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests), and End-users (Research Laboratories & CROs, Diagnostic Laboratories, and Hospitals & Clinics)
Asia Pacific, North America, Latin America, Europe, and Middle East & Africa
Company Share, Market Analysis and Size, Competitive Landscape, Growth Factors, and Trends, and Revenue Forecast
Key Players Covered in the Reort
Quest Diagnostics Inc.; Centogene N.V.; Invitae Corporation; 3billion, Inc.; Arup Laboratories; Eurofins Scientific; Strand Life Sciences; Ambry Genetics; Perkin Elmer, Inc.; Macrogen, Inc.; Baylor Genetics; Color Genomics, Inc.; Health Network Laboratories; Preventiongenetics; Progenity, Inc.; Coopersurgical, Inc.; Fulgent Genetics Inc.; Myriad Genetics, Inc.; Laboratory Corporation Of America Holdings; and Opko Health, Inc.
Market Segment Insights
Neurological disorders segment is anticipated to constitute a key market share
Based on disease types, the rare disease genetic testing market is divided into neurological disorders, immunological disorders, hematology diseases, endocrine & metabolism diseases, cancer, musculoskeletal disorders, cardiovascular disorders, dermatology diseases. The neurological disorders segment is anticipated to constitute a key market share in the coming years owing to a large number of tests performed to diagnose neurological diseases. Moreover, the wide prevalence of neurological disorders and rapid advancement of devices for the treatment of such disorders present key factors for the segment growth.
Whole exome sequencing segment is expected to grow at a rapid pace
On the basis of technology, the market is segregated into next-generation sequencing (NGS), array technology, PCR-based testing, FISH, sanger sequencing, and karyotyping. The next-generation sequencing segment is further bifurcated into whole exome sequencing and whole genome sequencing. The NGS segment is projected to accounts for a key share of the market owing to wide adoption of the technology for screening of several rare disease genetic disorders. However, the WES segment is anticipated to grow at a rapid pace during the forecast period owing to the availability of cost-effective and high accurate testing methods of WES-based testing devices. Moreover, the increasing adoption of whole genome sequencing method for the diagnostic of rare diseases is expected to push the segment growth at a significant pace.
Biochemical genetic test segment is expected to grow at a fast pace
Based on specialty, the rare disease genetic testing market is divided into molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. The molecular genetic test segment held a key share representing more than 32.5% of the global market in 2020 and is expected to constitute a major share of the market in the coming years. However, the biochemical genetic test segment is expected to grow at a fast pace owing to its accuracy in providing precise information about the lack of substances in DNA that can cause a genetic disorder.
Research Laboratories & CRO segment to constitute a key market share
On the basis of end-users, the market is categorized as research laboratories & CROs, diagnostic laboratories, and hospitals & Clinics. The research laboratories & CROs segment accounted for a dominant share holding a share of more than 41.5% of the global market in 2020 owing to the fact that the major samples for genetic tests are sent to laboratories. The diagnosis performed in lab provides accurate results based on various factors that cause the rare disorder. Moreover different laboratories also provide advice and guidance on genetics, which proves to be an effective service to the patients. This is expected to further propel the growth of the particular segment. Several initiatives have also been taken by different laboratories such as acquiring or launching other genetic laboratories including Centogene to detect the genetic rare diseases, which help to boost the diagnostic centers segment.
Asia Pacific is expected to exhibit a high CAGR
In terms of region, the global rapid medical diagnostic kits market is classified as Asia Pacific, North America, Latin America, Europe, and Middle East & Africa. North America held a key share of the market in 2020 and is projected to exhibit a considerable market share in the coming years. Whereas, the market of Asia Pacific is estimated to exhibit a high CAGR during the forecast period owing to a rise in awareness among people across the region. China is also taking several measures for the management of rare diseases in a search of finding effective diagnostic and treatment solution for such rare diseases.
Segments Covered in the Report
The global rare disease genetic testing market has been segmented on the basis of
Endocrine & Metabolism Diseases
o Whole Exome Sequencing
o Whole Genome Sequencing
FISH, Sanger Sequencing
Molecular Genetic Tests
Chromosomal Genetic Tests
Biochemical Genetic Tests
Research Laboratories & CROs
Hospitals & Clinics
Middle East & Africa
Quest Diagnostics Inc.
Strand Life Sciences
Perkin Elmer, Inc.
Color Genomics, Inc.
Health Network Laboratories
Preventiongenetics; Progenity, Inc.
Fulgent Genetics Inc.
Myriad Genetics, Inc.
Laboratory Corporation Of America Holdings
Opko Health, Inc.
Key players competing in the global rare disease genetic testing market are Quest Diagnostics Inc.; Centogene N.V.; Invitae Corporation; 3billion, Inc.; Arup Laboratories; Eurofins Scientific; Strand Life Sciences; Ambry Genetics; Perkin Elmer, Inc.; Macrogen, Inc.; Baylor Genetics; Color Genomics, Inc.; Health Network Laboratories; Preventiongenetics; Progenity, Inc.; Coopersurgical, Inc.; Fulgent Genetics Inc.; Myriad Genetics, Inc.; Laboratory Corporation Of America Holdings; and Opko Health, Inc.
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