Global Rare Disease Genetic Testing Market, By Disease Type (Endocrine & Metabolism Diseases, Immunological Disorders, Neurological Diseases, Hematology Diseases, Cancer, and Other Disease Types), By Technology, By Specialty, By End-User, By Region and Companies - Industry Segment Outlook, Market Assessment, Competition Scenario, Trends, and Forecast 2023-2032
- Published date: Oct 2023
- Report ID: 100151
- Number of Pages: 298
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Report Overview
The Global Rare Disease Genetic Testing Market size is expected to be worth around USD 3,051.6 million by 2032 from USD 918.94 million in 2023, growing at a CAGR of 13.1% during the forecast period from 2022 to 2032.
The testing of rare diseases has gained popularity because of the decrease in sequencing costs. Additionally, the market is anticipated to rise as a result of the growing need for rapid and fast diagnosis. Translational research and genomic technologies play a crucial role in enhancing the analysis and detection of new mutations and are expected to support business growth.
The use of genetic testing in disease diagnostics is expected to see rapid expansion throughout the anticipated time frame as a result of increased research activity in this field. The increase in registries in this field is one of the main factors boosting the industry since they allow data to be gathered to provide a sufficient number of samples for epidemiological and clinical research. They are essential in figuring out whether clinical trials are feasible, which aids in effective trial planning and attracting patients.
Key Takeaways
- Market Growth: The global Rare Disease Genetic Testing Market is projected to witness significant growth, with an expected worth of around USD 3,051.6 million by 2032, compared to USD 918.94 million in 2023, at a CAGR of 13.1% from 2022 to 2032.
- Driving Factors:
- Increasing Prevalence: The rising population contributes to an increase in rare diseases, driving the demand for genetic testing for their identification and management.
- Technological Advancements: Advances in genetic testing technology have made testing more accurate and effective, promoting its use for rare disease diagnosis and treatment.
- Product Innovations: Innovations in rare disease diagnosis products have fueled market growth.
- Restraining Factors:
- High Costs: The high cost of genetic testing can limit access, especially in low- and middle-income countries.
- Limited Treatment Options: Rare diseases often have limited treatment options, reducing the perceived benefit of genetic testing for some patients.
- Disease Type Analysis:
- Endocrine and Metabolism Diseases: Anticipated to grow at a CAGR of 21.0%, driven by increased understanding of the molecular and genetic causes of endocrine conditions.
- Immunological Diseases: The second-highest revenue share in the market.
- Technology Analysis:
- Next-Generation Sequencing (NGS): Leading technology segment, responsible for over 35.22% of revenue, driven by its wide availability and use in various disease testing.
- Whole Exome Sequencing (WES): Gaining prominence for identifying genetic causes of rare diseases.
- Specialty Analysis:
- Molecular Genetic Testing: Largest market share in 2022 (over 41.10%) and expected to maintain the lead with the fastest CAGR.
- Chromosomal Genetic Tests and Biochemical Genetic Tests are also significant segments.
- End-User Analysis:
- Research Labs & CROs: Held the largest market share in 2022 (over 47%), as most end users are laboratories.
- Diagnostic Labs: Expected to grow at the fastest CAGR of 16.1% during the research period.
- Growth Opportunities:
- Increasing demand for non-invasive genetic tests, such as blood-based and saliva-based tests, offers growth potential.
- Expansion into emerging markets, especially in the Asia Pacific and the Middle East & Africa (MEA), can tap into the high prevalence of rare diseases in these regions.
- Latest Trends:
- NGS Dominance: Next-Generation Sequencing (NGS) is increasingly used for genetic testing, offering comprehensive data on multiple genes.
- Whole-Exome Sequencing: Growing in importance for clinical diagnosis and personalized medicine.
- Regional Analysis:
- North America: Led the market in 2022, with over 47.2% market share, driven by a high prevalence of rare diseases and substantial research and development facilities.
- Asia Pacific: Expected to grow at the highest rate (CAGR of 18.1%) due to improving diagnostic awareness and supportive policies for disease management.
Driving Factors
Increasing prevalence of rare diseases
As the population grows the number of cases of rare diseases increases, and there is also the demand for genetic testing to identify and manage these rare diseases.
Developments in genetic testing technology
Genetic testing is now more accurate and effective because of advancements in genetic testing technology. This has led to a rise in the use of genetic testing for the treatment and diagnosis of rare diseases. Also, increased product innovations for rare disease diagnosis have driven the market’s growth.
Restraining Factors
High cost of genetic testing
Patients and healthcare professionals may find it difficult to afford genetic testing because of its high cost. Particularly in low- and middle-income nations, this may restrict the availability of genetic testing.
Limited availability of treatment
Even with a diagnosis, rare diseases may only have a few viable alternatives for treatment. As a result, there may be a decrease in the demand for genetic testing as patients would not perceive the benefit of knowing they have a disease for which there is neither a cure nor an effective treatment.
Disease Type Analysis
Based on disease type the market is segmented into endocrine & metabolism diseases, immunological disorders, neurological diseases, hematology diseases, cancer, musculoskeletal disorders, cardiovascular disease, and other disease types. In the course of the forecast period, the segment of endocrine and metabolism diseases is anticipated to grow at a CAGR of 21.0%.
The understanding of the molecular and genetic causes of endocrine conditions, such as Cushing’s syndrome, has increased significantly in recent years. This encourages the use of genetic testing for endocrine diseases. Furthermore, it is predicted that the identification of genetic mutations in patients with bilateral macronodular adrenal hyperplasia and primary pigmented nodular adrenocortical disease will accelerate the development of instruments for genetic testing for early disease diagnosis. The segment that had the second-highest revenue share was immunological diseases.
Technology Analysis
By Technology the rare disease genetic testing market is further divided into next-generation sequencing, array technology, PCR-based testing, FISH, sanger sequencing, karyotyping, and other technologies. In 2022, the Next-Generation Sequencing (NSG) technology segment led the global market and was responsible for the highest revenue share of more than 35.22%.
The market has been driven by the wide availability and use of NGS-based gene panels for testing cancer, neurologic diseases, cardiovascular disease, and other diseases. Over the forecast duration, WES is a used genetic testing method to identify the genetic cause of rare diseases and is becoming the standard of care for undiagnosed rare diseases.
Specialty Analysis
This market is segmented into molecular genetic testing, chromosomal genetic tests, and biochemical genetic tests based on specialties. In 2022, the market for molecular genetic testing held the largest market share, contributing more than 41.10% of worldwide revenue.
During the forecast period, the segment will maintain the lead by the fastest CAGR. The segment is likely to develop because of quick technology developments and experience using and managing high throughput technologies in clinical settings. The study of single genes or short DNA segments for the detection of mutations or changes resulting in genetic diseases is made possible by molecular genetic tests. Molecular testing isn’t only limited to rare diseases but also involves testing of ultra-rare disorders.
End-User Analysis
In 2022, the research labs & CROs industry segment held the largest market share, contributing more than 47% of the total revenue. Because the majority of end users are laboratories. The testing services provided by laboratories include molecular genetic tests and biochemical genetic tests.
Additionally, the use of molecular genetic testing in laboratories is expanding quickly globally. Many laboratories do genetic testing, including those that are CLIA-accredited for specialties such as clinical cytogenetics, pathology, and chemistry. Over the research period, the diagnostic lab’s sector is anticipated to grow at the fastest CAGR of 16.1%.
Key Market Segments
Based on Disease Type
- Endocrine & Metabolism Diseases
- Immunological Disorders
- Neurological Disease
- Hematology Diseases
- Cancer
- Musculoskeletal Disorders
- Cardiovascular Disease
- Other Disease types
Based on Technology
- Next-Generation Sequencing( NGS)
- Whole Exome Sequencing
- Whole Genome Sequencing
- Array Technology
- PCR-Based Testing
- FISH
- Sanger Sequencing
- Karyotyping
- Other Technology
Based on Specialty
- Molecular Genetic Tests
- Chromosomal Genetic Tests
- Biochemical Genetic Tests
Based on End-User
- Research Laboratories & CROs
- Hospitals & Clinics
- Diagnostic Laboratories
- Other End-Users
Growth Opportunity
Increasing demand for non-invasive genetic tastings like blood-based tests and saliva-based tests are becoming more popular because they are easier to administer and less invasive. This may allow the companies to develop such tests and enter into the market for rare diseases.
Expansion into emerging markets: Genetic testing is increasingly needed in emerging markets such as APAC and MEA, especially in low and middle-income countries with a high prevalence of rare diseases. Companies that can provide affordable and accessible genetic testing can expand their customer base and increase revenue.
Latest Trends
Next-Generation Sequencing (NGS) is becoming increasingly usually used for genetic testing for rare diseases because of its capacity to scan numerous genes at once and deliver more thorough data. The early identification and treatment of rare diseases are receiving greater emphasis, which is increasing the need for genetic testing. This is because early diagnosis can lead to proper treatments and better outcomes for patients.
The whole-exome sequencing market is expected to experience substantial growth over the forecast period due to its increasing applications in clinical diagnosis, growing demand for rare disease diagnosis, rising R&D investments in genomics and next-generation sequencing technology, as well as rising personalized medicine demand.
Regional Analysis
In 2022, North America led the global industry with a share of more than 47.2%. The high prevalence of rare diseases, the presence of several disease registries, a substantial number of research and development facilities for ultra-rare diseases, and significant expenditures in disease detection are all factors that contribute to the region’s high market share.
On the other side, Asia Pacific is predicted to grow at the highest rate throughout the forecasted time, with a CAGR of 18.1%. This is mostly due to improvements in diagnostic awareness and abilities. Additionally, the implementation of frameworks and policies to support disease management will present attractive prospects in this region.
Key Regions
- North America
- The US
- Canada
- Mexico
- Western Europe
- Germany
- France
- The UK
- Spain
- Italy
- Portugal
- Ireland
- Austria
- Switzerland
- Benelux
- Nordic
- Rest of Western Europe
- Eastern Europe
- Russia
- Poland
- The Czech Republic
- Greece
- Rest of Eastern Europe
- APAC
- China
- Japan
- South Korea
- India
- Australia & New Zealand
- Indonesia
- Malaysia
- Philippines
- Singapore
- Thailand
- Vietnam
- Rest of APAC
- Latin America
- Brazil
- Colombia
- Chile
- Argentina
- Costa Rica
- Rest of Latin America
- Middle East & Africa
- Algeria
- Egypt
- Israel
- Kuwait
- Nigeria
- Saudi Arabia
- South Africa
- Turkey
- United Arab Emirates
- Rest of MEA
Key Players Analysis
To increase their market dominance, major competitors are using a variety of techniques, such as collaborations created via mergers and acquisitions, regional expansions, and strategic partnerships. Because there are so many competitors, the market for genetic testing for rare diseases is highly competitive. Quest Diagnostics Incorporated is one of these locally and internationally active players. Quest Diagnostics is a leading provider of genetic testing services, including genetic testing for rare diseases.
Market Key Players
- Quest Diagnostics Inc.
- 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
- Color Genomics, Inc.
- Health Network Laboratories
- PreventionGenetics
- Progenity, Inc.
- Coopersurgical, Inc.
- Fulgent Genetics Inc.
- Myriad Genetics, Inc.
- Laboratory Corporation of America Holdings
- Opko Health, Inc.
- Other key players
Recent Developments
- Predicine Inc. gained USFDA approval for its PredicineCARE cfDNA assay, an NGS assay tool for tumor mutation profiling in cf-DNA, in September 2022.
- Thermo Fisher Scientific and the Qatar Genome Program (QGP), a branch of the Qatar Foundation (QF), collaborated in May 2022 to advance genomic research and clinical applications of predictive genomics in Qatar as a step toward extending the advantages of precision medicine to Arab populations worldwide.
Report Scope
Report Features Description Market Value (2022) USD 918.9 Mn Forecast Revenue (2032) USD 3,051.6 Mn CAGR (2023-2032) 13.1% Base Year for Estimation 2022 Historic Period 2016-2022 Forecast Period 2023-2032 Report Coverage Revenue Forecast, Market Dynamics, COVID-19 Impact, Competitive Landscape, Recent Developments Segments Covered Based on Disease Type (Endocrine & Metabolism Diseases, Immunological Disorders, Neurological Disease, Hematology Diseases, Cancer, Musculoskeletal Disorders, Cardiovascular Disease, Other Disease types)
Based on Technology (Next-Generation Sequencing(NGS) (Whole Exome Sequencing, Whole Genome Sequencing), Array Technology, PCR-Based Testing, FISH, Sanger Sequencing, Karyotyping, Other Technology)
Based on Specialty (Molecular Genetic Tests, Chromosomal Genetic Tests, Biochemical Genetic Tests)
Based on End-User (Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories, Other End-Users)Regional Analysis North America – The US, Canada, & Mexico; Western Europe – Germany, France, The UK, Spain, Italy, Portugal, Ireland, Austria, Switzerland, Benelux, Nordic, & Rest of Western Europe; Eastern Europe – Russia, Poland, The Czech Republic, Greece, & Rest of Eastern Europe; APAC – China, Japan, South Korea, India, Australia & New Zealand, Indonesia, Malaysia, Philippines, Singapore, Thailand, Vietnam, & Rest of APAC; Latin America – Brazil, Colombia, Chile, Argentina, Costa Rica, & Rest of Latin America; Middle East & Africa – Algeria, Egypt, Israel, Kuwait, Nigeria, Saudi Arabia, South Africa, Turkey, United Arab Emirates, & Rest of MEA Competitive Landscape Quest Diagnostics Inc., 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, Color Genomics, Inc., Health Network Laboratories, PreventionGenetics, Progenity, Inc., Coopersurgical, Inc., Fulgent Genetics Inc., Myriad Genetics, Inc., Laboratory Corporation of America Holdings, Opko Health, Inc., Other key players. Customization Scope Customization for segments, region/country-level will be provided. Moreover, additional customization can be done based on the requirements. Purchase Options We have three license to opt for: Single User License, Multi-User License (Up to 5 Users), Corporate Use License (Unlimited User and Printable PDF) Frequently Asked Questions (FAQ)
What is the projected CAGR at which the Rare Disease Genetic Testing Market is expected to grow at?The Rare Disease Genetic Testing Market is expected to grow at a CAGR of 13.1% (2023-2032).
What is the size of the Rare Disease Genetic Testing Market in 2023?The Rare Disease Genetic Testing Market size is USD 918.94 million in 2023.
Which region is more appealing for vendors employed in the Rare Disease Genetic Testing Market?In 2022, North America led the global industry with a share of more than 47.2%.
Name the key business areas for the Rare Disease Genetic Testing Market.The US, Canada, China, India, Brazil, South Africa, Singapore, Indonesia, Portugal, etc., are leading key areas of operation for the Rare Disease Genetic Testing Market.
List the segments encompassed in this report on the Rare Disease Genetic Testing Market?Market.US has segmented the Rare Disease Genetic Testing Market by geography (North America, Europe, APAC, South America, And Middle East and South Africa). The market has been segmented Based on Disease Type Endocrine & Metabolism Diseases, Immunological Disorders, Neurological Disease, Hematology Diseases, Cancer, and Other Disease types. Based on Technology Next-Generation Sequencing( NGS), Array Technology, PCR-Based Testing, FISH, and Other Technology. Based on Specialty Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests. Based on End-User Research Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories and Other End-Users.
Rare Disease Genetic Testing MarketPublished date: Oct 2023add_shopping_cartBuy Now get_appDownload Sample - Quest Diagnostics Inc.
- 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
- Color Genomics, Inc.
- Health Network Laboratories
- PreventionGenetics
- Progenity, Inc.
- Coopersurgical, Inc.
- Fulgent Genetics Inc.
- Myriad Genetics, Inc.
- Laboratory Corporation of America Holdings
- Opko Health, Inc.
- Other key players
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