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, Bioch
Published Date: November - 2024 | Publisher: MIR | No of Pages: 320 | Industry: Healthcare | Format: Report available in PDF / Excel Format
View Details Buy Now 2890 Download Sample Ask for Discount Request CustomizationRare 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, Bioch
| Forecast Period | 2024-2028 |
| Market Size (2022) | USD 789.83 Million |
| CAGR (2023-2028) | 8.04% |
| Fastest Growing Segment | Research laboratories & CROs segment |
| Largest Market | North America |
Market Overview
Global Rare Disease Genetic Testing Market has valued at USD 789.83 million in 2022 and is anticipated to project robust growth in the forecast period with a CAGR of 8.04% % through 2028. Rare Disease Genetic Testing is diagnosis of genetic mutations or alterations that are responsible for rare diseases. Rare diseases are characterized by their low prevalence, affecting a small percentage of the population. These diseases often have a genetic basis, meaning they are caused by mutations or alterations in specific genes. Genetic testing for rare diseases involves analysing an individual's DNA to identify any abnormalities or mutations that may be causing their symptoms or condition. This can help in providing an accurate diagnosis, understanding the underlying cause of the disease, and guiding personalized treatment and management strategies. Rare disease genetic testing can be performed using various techniques, including next-generation sequencing (NGS), which allows for the simultaneous analysis of multiple genes or even the entire genome. This technology has significantly improved the efficiency and accuracy of genetic testing, enabling the identification of rare genetic mutations. As a result, they are primarily used for understanding the genetics of rare diseases, physicians can identify underlying causes of undetected disorders, saving families years of hospital stays and unnecessary tests. Rare Disease Genetic Testing can be categorized based on molecular test that diagnose change in one or more genes, chromosomal test that is used to analyse the whole chromosomes and gene expression that is basically used to diagnose the turning on or off in different type of cells, targeted single variant, single gene and gene panel.
Key Market Drivers
Increasing Prevalence Of Rare Disease Drives The Growth Of Market
The prevalence rate of rare diseases in the population was estimated at 3.5-5.9% which translates to 260-440 million people affected globally at any point in time.
Increasing Demand Of Personalized Medication Drives The Market Growth
The ability to anticipate which treatments will be most effective for a particular patient. A better understanding of the mechanisms by which diseases develop.
Increasing Awareness And Advocacy Drive The Market Growth
According to the National Institutes of Health (NIH), there are approximately 7,000 rare diseases affecting between 25 and 30 million Americans with the increasing prevalence of rare disease people are becoming more aware.
Key Market Challenges
Diagnostic Complexity in Testing
The complex nature of rare diseases can lead to delayed or misdiagnosis. Healthcare providers may struggle to identify the underlying cause of a patient's symptoms, leading to incorrect treatments or unnecessary interventions.
Limited Knowledge and Awareness
Healthcare professionals may not consider rare diseases as potential diagnoses due to lack of awareness. This can result in delayed or missed diagnoses, leading to prolonged patient suffering and potential progression of the disease.
Ethical And Privacy Concern
Obtaining informed consent for genetic testing can be complex, especially for rare diseases. Patients and their families may have limited understanding of the implications of testing, the potential for unexpected findings, and the extent of data sharing.
Key Market Trends
Growth of Direct-to-Consumer (DTC) Testing
The global Rare Disease Genetic Testing market, the growth of Direct-to-Consumer (DTC) testing in the global rare disease genetic testing market has been relatively limited compared to other areas of genetic testing, such as ancestry or health-related traits.
Segmental Insights
Disease Type
In 2022, the Rare Disease Genetic Testing market was dominated by the Endocrine & Metabolism segment and is predicted to continue expanding over the coming years. Many rare diseases within the Endocrine & Metabolism category have a well-defined genetic basis. Genetic mutations can lead to disruptions in hormone production, metabolism, and other physiological processes, resulting in a range of rare disorders. Genetic testing for Endocrine & Metabolic disorders allows for early and accurate diagnosis, enabling timely intervention and management. Early detection can lead to better outcomes by facilitating appropriate treatment and lifestyle modifications.
Technology Insights
In 2022, the Rare Disease Genetic Testing market was dominated by the Next-Generation Sequencing (NGS) and is predicted to continue expanding over the coming years. Next-Generation Sequencing (NGS) is a rapidly emerging technology that is revolutionizing the field of genetic testing. NGS is much faster and more affordable than traditional genetic testing methods, and it can sequence millions of DNA bases in a single run. This makes NGS ideal for rare disease genetic testing, which often requires the analysis of large amounts of genetic data. NGS is more accurate than traditional genetic testing methods. This is because NGS can sequence millions of DNA bases in a single run, which allows for more comprehensive analysis of the genome. NGS is much faster than traditional genetic testing methods. This is important for rare disease genetic testing, which often requires the analysis of large amounts of genetic data.
Speciality Insight
In 2022, the Rare Disease Genetic Testing market was dominated by the molecular genetic tests and is predicted to continue expanding over the coming years. This is because molecular genetic tests can provide more comprehensive and accurate information about the genetic mutations that are responsible for rare diseases. Molecular genetic tests are used to analyse DNA, RNA, or proteins. They can be used to detect mutations in genes, changes in the structure of DNA, or changes in the expression of genes. Molecular genetic tests can be used to diagnose rare diseases, to monitor the progression of disease, and to identify patients who are at risk of developing rare diseases.
End-Use Industry Insights
In 2022, the Rare Disease Genetic Testing market was dominated by research & CROs segments and is predicted to continue expanding over the coming years. This is because research and CROs are responsible for developing new genetic tests, conducting clinical trials, and providing genetic testing services to patients. Research and CROs are using genetic testing to study the genetic basis of rare diseases, to develop new treatments and therapies, and to improve the diagnosis and management of rare diseases. They are also using genetic testing to identify patients who are at risk of developing rare diseases.
Regional Insights
The North America region has established itself as the leader in the Global Rare Disease Genetic Testing Market. North America, particularly the United States and Canada, possesses a well-established and advanced healthcare infrastructure that supports the development, adoption, and integration of genetic testing technologies.
Recent Developments
- In May 2023, BiodatabankCENTOGENE is the largest integrated multomic data repository in the world,providing diagnostic, clinical, and life-saving solutions to more than 750,000patients suffering from rare and neurological diseases. This repository enablespatients and partners worldwide to access life-saving treatments.
- In September 2021, Invitae,a medical genetic company, is acquiring consumer health technology firmCiitizen in a $325 million deal to streamline the collection of genomic andclinical data for patients. Invitae’s goal is to bringall the results of the world’s genetic testing together in a single,user-friendly platform that makes genetic information available to everyone whocan benefit.
- In July 2023, Instrumentshave been added to Strand Life Sciences to enable further automation andscalability. The addition of the newly invented Illumina DNA Sequencer X Plusand the addition of Beckman Coulter's state-of-the-art BioKit Liquid Handlerallow Strand to position well for higher volumes and higher performance. Up to16 Terabases (TDBs) of data can be generated in a single run with the IlluminaNNSeq X Plus at a fraction of the cost per base compared to previous generationsequencing platforms. Sample preparation is automated with the Beckman Coulterbiomek i7 automated liquid handler to ensure repeatability.
Key Market Players
- 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
| By Disease Type | By Specialty | By End User | By Region |
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