Global Rare Disease Diagnostics Industry Market Research 2022-2030

"In 2021, the global rare disease diagnostics market is estimated to be valued at more than ~USD 1 billion, and is expected to have a compound annual growth rate (CAGR) of ~12% from 2022 to 2030. Misdiagnosis may lead to interventions, which may subsequently be deemed to be inappropriate for the underlying disease. Therefore, the demand for accurate and timely diagnosis of rare diseases drives the demand for genetic testing. 

Currently, ignorance of these conditions is one of the main challenges in the market. Therefore, various efforts are being made to help raise awareness of various aspects of rare and ultra-rare diseases, such as the challenges associated with diagnosis and the clinical implementation of available diagnostic methods. In some countries, training programs in genetic testing are also provided for health professionals. Every country has established a rare disease registry as the focus of information on these diseases. Patient records and databases play a vital role in clinical research in the field of rare diseases, helping to improve medical care and patient care planning. 

The increase in the number of available records is one of the main market drivers because it allows data to be grouped. Obtain sufficient sample size for epidemiological and/or clinical research. In addition, technological advances in clinical practice data collection and interpretation have promoted the development of the market. The company is working to ensure effective collection of data from different races, which is expected to help diagnose thousands of patients with the same disease. 

In addition, companies such as Centogene combine genetic testing with metabolomics and proteomics to construct data. The analysis process is as accurate as possible. Multi-omics methods help to better understand the impact of a certain mutation on protein and metabolite levels. The company also introduced a system to simplify the sample collection process, thereby promoting the application of genetic testing in the diagnosis of rare diseases.

 

DISEASE TYPE INFORMATION: 

The neurological disease sector accounted for the largest proportion in 2020, at 11%. The large number of commercially approved genetic tests for neurological diseases and the high prevalence of neurological diseases have accelerated the revenue growth of this sector. The tests provided by the company have been recommended by various medical institutions, including the American Academy of Neurology, the American College of Medical Genetics, and the Academy of Child Neurology. In addition, the emergence of high-throughput technologies such as exome sequencing and whole-genome sequencing provides profitable opportunities for companies that provide disease detection such as X-ALD. Exome sequencing and whole-genome sequencing can help solve complex cases with atypical course of X-ALD. 

In addition, immune diseases such as multiple sclerosis (MS) are one of the most common rare diseases. The genetic characteristics of MS is one of the focus areas of researchers in this field. This is mainly to obtain relevant information related to the cause and underlying physiology of the disease, which generates a large part of this market segment.

 

END USE INFORMATION: 

Research laboratories and CROs accounted for the highest market share of 48% in 2020. This is mainly because in a large number of cases, blood samples obtained from patients are sent to the laboratory for testing. analysis. The laboratory provides tests based on various specialties, including molecular, chromosomal and biochemical genetic tests.

For example, the ARUP laboratory provides tests in molecular genetics, cytogenetics, genomic microarrays, and biochemical genetics. The laboratory also provides genetic counseling services to further accelerate the speed of patients receiving services. In addition, laboratory tests based on molecular genetic testing are rapidly increasing worldwide. Genetic testing is carried out by multiple laboratories, including those with clinical cytogenetics, pathology and chemistry, and other specialized laboratories accredited by CLIA. These companies use various strategic initiatives to expand their testing portfolio.

 

TECHNICAL INSIGHT: 

Due to the massive use of whole-exome sequencing (WES), next-generation sequencing (NGS) accounted for the majority of 34% in 2020. When the genetic cause of the disease is unknown and difficult to determine, WES is considered to be a method with great potential. WES is becoming the standard of care for patients with undiagnosed rare diseases. This is because exons account for approximately 1.5% of an individual's genome and contain 82% of all known pathogenic mutations. 

In addition, as the cost of WES drops, the cost of genetic testing is expected to drop significantly. Make the test more affordable and more accessible. In addition, medical insurance based on WES genetic testing has supported the growth of this segment. Quite a few private health insurance institutions will bear all or part of the genetic testing costs based on the recommendations of health professionals. Compared with WES, there is less demand for clinical whole-genome sequencing (WGS); however, as costs continue to decrease, the adoption of WGS is expected to expand.

 

For example, Rady Childrens Institute of Genomic Medicine provides WGS singleton-rapid and WGS trio-rapid at a reasonable cost. In February 2020, Dante Labs launched a program to provide WGS to patients with rare diseases at a price of $299. The service includes WGS 30X based on Novaseq6000 technology, data interpretation and personalized treatment for these diseases.

 

EXPERT OPINION: 

Molecular genetic testing has a revenue share of more than 38% in 2020, leading the market. Rapid technological advancement and experience in handling and managing high-throughput technologies in a clinical environment drive revenue in this area. Molecular genetic testing methods allow the study of mutations or variations in single genes or small lengths of DNA that can lead to genetic diseases. 

In addition to rare diseases, the method also covers ultra-rare disease detection, which will increase the future growth of this segment. Biochemical genetic testing is expected to record the second fastest compound annual growth rate in the prophase because it can effectively assess the activity and quantity of proteins and related abnormalities to identify DNA changes that may cause metabolic disorders. They are expanding their test portfolio to take advantage of the potential opportunities that exist in this market segment. In September 2019, Blueprint Genetics collaborated with ARCHIMEDlife to launch high-quality biochemical tests for rare diseases. These developments are expected to boost the revenue share of this sector in the next few years.

 

Regional information: 

North America accounted for more than 40% of the largest market share in 2020. Factors such as the high incidence of rare diseases, the large number of rare disease registries, and the existence of a considerable number of rare disease research and development facilities. Super fast case. Rare diseases in the region and large investments in rare disease diagnosis are driving market growth. 

According to the National Institutes of Health (NIH), approximately 30 million Americans have been identified as having one of more than 7,000 known rare diseases. In addition, the number of patients undergoing disease screening is expected to increase in the next few years, which will support the growth of the market. Due to the increased awareness and target population of Asian countries, the Asia-Pacific region is expected to record the fastest compound annual growth rate between 2022 and 2030. 

China is trying to shift its attention from the health system to the diagnosis and treatment of rare diseases. The Chinese government has included rare disease management as a public health priority in its 2030 roadmap entitled Healthy China 2030. In addition, in June 2018, the country released the first list of rare diseases, allowing patients to effectively find solutions. The local hospital.

 

 MAJOR COMPANIES AND MARKET SHARE PROSPECTS: 

The development of technologies such as WES and WGS has significantly changed the field of genetic testing by providing convenient and cost-effective methods that can be performed in a variety of clinical settings for various conditions. Therefore, leading diagnostic companies are committed to expanding their product portfolios that can be used to test rare and ultra-rare diseases. In addition, they have taken various initiatives, such as mergers and acquisitions, to expand their product range and subsequently strengthen their influence in the market. 

 

For example, OPKO acquired GeneDX. The acquisition helped the latter expand its market business. In addition, Quest strengthened its market share through the acquisition of Blueprint Genetics. Another important acquisition in the market is Thermo Fishers acquisition of Qiagen. The two companies signed the agreement in March 2020; however, it is scheduled to be completed in the first quarter of 2021, as ThermoFisher Scientific is preparing funds for a $11.5 billion transaction with an issuance value of $2.2 billion.

 

The agreement is expected to have a significant impact on the life science tool and reagent market. In terms of genetic testing for rare diseases, Thermo Fisher Scientific is committed to the research and sequencing of osteogenesis imperfecta and vascular Ehlers-Danlos syndrome. Some of the major players in the rare disease genetic testing market include: Quest Diagnostics Inc. Centogene NVInvitae Corporation 3 Billion, Inc. Arup LaboratoriesEurofins ScientificStrand Life SciencesAmbry GeneticsPerkin Elmer, Inc.Macrogen, Inc.Baylor GeneticsColor Genomics, Inc.Health Network LaboratoriesPrevention. Coopersurgical, Inc. Fulgent Genetics Inc. Myriad Genetics, Inc. Laboratory Corporation Of America Holdings Opko Health, Inc.

 

MARKET SEGMENTS COVERED BY THE REPORT: 

The report forecasts global, regional and national revenue growth, and analyzes the latest industry trends in each sub-segment from 2022-2030. For the purpose of this research, Kenneth Research will report on the global market for rare disease genetic testing by disease type, technology, specialty, end use, and region: Disease type outlook (revenue, millions of dollars, 2022-2030) Neurological diseases Immune System Diseases Blood Diseases Endocrine and Metabolic Diseases Cancer Musculoskeletal Diseases Cardiovascular Diseases (CVD)) Skin Diseases Other Technology Prospects (Revenue, Million USD, 2022-2030) Next Generation Sequencing (NGS) Whole Exome Sequencing (WES) )) Whole Genome Sequencing (WGS) array technology PCR-based test FISHS Hazard Sequencing Karyotyping Specialty Outlook (revenue, US$2.027 billion) Molecular genetic testing, chromosome genetic testing, biochemical genetic testing end-use outlook (revenue, US$ million, 2022-2030) Research Labs and CRO Diagnostic Labs Hospitals and Clinics Genetic Prevention Progenity, Inc. Coopersurgical, Inc. Fulgent Genetics Inc. Myriad Genetics, Inc. Laboratory Corporation Of America Holdings Opko Health, Inc."
 

Geography Analysis:

The report further discusses the market opportunity, compound annual growth rate (CAGR) growth rate, competition, new technology innovations, market players analysis, government guidelines, export and import (EXIM) analysis, historical revenues, future forecasts etc. in the following regions and/or countries:

• North America (U.S. & Canada) Market Size, Y-O-Y Growth, Market Players Analysis & Opportunity Outlook
• Latin America (Brazil, Mexico, Argentina, Rest of Latin America) Market Size, Y-O-Y Growth & Market Players Analysis & Opportunity Outlook
• Europe (U.K., Germany, France, Italy, Spain, Hungary, Belgium, Netherlands & Luxembourg, NORDIC(Finland, Sweden, Norway, Denmark), Ireland, Switzerland, Austria, Poland, Turkey, Russia, Rest of Europe), Poland, Turkey, Russia, Rest of Europe) Market Size, Y-O-Y Growth Market Players Analys  & Opportunity Outlook
• Asia-Pacific (China, India, Japan, South Korea, Singapore, Indonesia, Malaysia, Australia, New Zealand, Rest of Asia-Pacific) Market Size, Y-O-Y Growth & Market Players Analysis & Opportunity Outlook
• Middle East and Africa  (Israel, GCC (Saudi Arabia, UAE, Bahrain, Kuwait, Qatar, Oman), North Africa, South Africa, Rest of Middle East and Africa) Market Size, Y-O-Y Growth Market Players Analysis & Opportunity Outlook

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