Global Rare Disease Genetic Testing Market – Industry Trends and Forecast to 2029

Rare Disease Genetic Testing Market Analysis and Size

Genetic testing is a type of medical test that detects changes in genes, chromosomes or proteins. A genetic test's results can confirm after suspected genetic condition or they can help determine a person's risk of developing or passing on a genetic disorder. Most tests are used to diagnose rare genetic disorders, such as Duchenne Muscular Dystrophy and Fragile X Syndrome. Genetic tests are performed on a blood sample, amniotic fluid (the fluid that surrounds a foetus during pregnancy), or other tissue. In case of newborns, genetic screening tests are done on a small blood sample obtained by pricking the baby's heel.

Data Bridge Market Research analyses that the rare disease genetic testing market which was USD 785.8 million in 2021, is expected to reach USD 1982.04 million by 2029, at a CAGR of 12.26% during the forecast period 2022 to 2029. In addition to the insights on market scenarios such as market value, growth rate, segmentation, geographical coverage, and major players, the market reports curated by the Data Bridge Market Research also include depth expert analysis, patient epidemiology, pipeline analysis, pricing analysis, and regulatory framework.

Rare Disease Genetic Testing Market Scope and Segmentation      

Market Definition

Genetic testing is a diagnostic tool that not only aids in the identification of specific disease manifestations but also in determining the underlying causes of genetic disorders. Genetic testing has a variety of advantages such as confirming a diagnosis, determining the cause of unexplained symptoms, and identifying treatment options, including clinical trials. Genetic testing refers to a wide range of applications, ranging from family history collection and evaluation to whole genome screening. Each test has its own set of advantages and disadvantages based on the technology used and the indication for the test. A rare disease refers to a condition, disorder or disease that affects a small percentage of the population at any given time. For instance, in the European Union, it affects fewer than 1 in 2,000 individuals, in the United States, a rare disease is defined as a disease that affects less than 200,000 individuals.

Global Rare Disease Genetic Testing Market Dynamics

Drivers

• Genetic testing use in research laboratories

Genetic testing is used in the research laboratories for laboratory test to look for variations in an individual's DNA, typically in the context of medical care, ancestry studies, or forensics. A genetic test's results can be used in a medical setting to confirm a suspected genetic disease. Genetic testing is the use of a laboratory test to examine an individual’s DNA for variations, typically performed in the context of ancestry studies, forensics, medical care. These all are the certain factors which propel the growth of market.

• Rise in diagnostic testing

Diagnostic testing is used to identify a specific genetic or chromosomal condition. In many cases, genetic testing is used to confirm a diagnosis when a particular condition is suspected based on physical signs and symptoms. Even though uncovering the genetic cause behind a condition may not directly impact treatment options, it will provide physicians and the families with useful information. For instance, physicians can combine genetic testing with existing clinical and biochemical analyses to accurately confirm a disease diagnosis. These are the factors which boost the market’s growth.

Opportunities

• Rise in disease testing

The Canadian organization for rare disorders (CORD) provides a strong platform for streamlining health policy and a healthcare system dedicated to the management of patients with disorders. The agency works with clinicians, researchers, governments and the diagnostic industry to advance research and development, diagnosis, treatment, and service availability for all rare conditions in the country. According to the National Institutes of Health (NIH), approximately 30 million Americans have been diagnosed with one of the 7,000+ known rare diseases. With increased awareness, the number of patients undergoing disease testing is expected to rise in the coming years.

Restraints/Challenges

• Dearth of trained healthcare personnel

Lack of regulatory framework in emerging economies associated with dearth of trained healthcare personnel will obstruct the market's growth rate.

This rare disease genetic testing market report provides details of new recent developments, trade regulations, import-export analysis, production analysis, value chain optimization, market share, impact of domestic and localized market players, analyses opportunities in terms of emerging revenue pockets, changes in market regulations, strategic market growth analysis, market size, category market growths, application niches and dominance, product approvals, product launches, geographic expansions, technological innovations in the market. To gain more info on the rare disease genetic testing market contact Data Bridge Market Research for an Analyst Brief, our team will help you take an informed market decision to achieve market growth.

COVID-19 Impact on the Rare Disease Genetic Testing Market

Patients with undiagnosed and rare diseases have faced significant health challenges as a result of the COVID-19 pandemic. According to a study published in January 2021 by a group of researchers from the United States, there is an urgent need for the development of approaches that can reduce the serious challenges faced by patients and families with rare and undiagnosed diseases. The difficulties include diagnostic or prognostic uncertainty, as well as medical complexity, which leads to poor health outcomes. Furthermore, the COVID-19 pandemic had an impact on clinical trials focusing on rare diseases. Clinical trials have faced several challenges as a result of the pandemic. The difficulties in locating, recruiting, and retaining patients with rare diseases had a significant impact on clinical trials.

Recent developments

• In December 2020, Cell ID Pte. Ltd., a Singapore-based company that manufactures genetic testing products, will launch the Quiz PCR Biochip, a portable genetic test for COVID-19. This is a portable palm-sized moveable genetic test kit that uses an app to determine whether or not a person has COVID-19. This device also included a QR code for tracking purposes. The device employs pooled screening technology. This is easily portable and can conduct tests at any time
• In January 2022, Exact Sciences, a US-based manufacturer of genetic testing tools and a molecular diagnostics company acquired Prevention Genetics for $190 million. Exact Sciences hopes to increase hereditary cancer testing for more patients as a result of this acquisition

Global Rare Disease Genetic Testing Market Scope

The rare disease genetic testing market is segmented on the basis of disease type, technology, speciality, end-user. The growth amongst these segments will help you analyze meagre growth segments in the industries and provide the users with a valuable market overview and market insights to help them make strategic decisions for identifying core market applications.

Disease Type

• Neurological Disorders
• Immunological Disorders
• Hematology Diseases
• Endocrine
• Metabolism Diseases
• Cancer
• Musculoskeletal Disorders
• Cardiovascular Disorders (CVDs)
• Dermatology Disease
• Others

Technology

• Next-Generation Sequencing (NGS)
• Whole Exome Sequencing
• Whole Genome Sequencing
• Array Technology
• PCR-based Testing
• FISH
• Sanger Sequencing
• Karyotyping

Specialty

• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Genetic Tests

 End Use

• Research Laboratories
• CROs
• Diagnostic Centers
• Hospitals
• Clinics

Rare Disease Genetic Testing Market Regional Analysis/Insights

The rare disease genetic testing market is analysed and market size insights and trends are provided by country, disease type, technology, speciality, end-user as referenced above.

The countries covered in the rare disease genetic testing market report are U.S., Canada and Mexico in North America, Germany, France, U.K., Netherlands, Switzerland, Belgium, Russia, Italy, Spain, Turkey, Rest of Europe in Europe, China, Japan, India, South Korea, Singapore, Malaysia, Australia, Thailand, Indonesia, Philippines, Rest of Asia-Pacific (APAC) in the Asia-Pacific (APAC), Saudi Arabia, U.A.E, South Africa, Egypt, Israel, Rest of Middle East and Africa (MEA) as a part of Middle East and Africa (MEA), Brazil, Argentina and Rest of South America as part of South America.

North America dominates the rare disease genetic testing market due to the large number of rare disorders registries and the presence of considerable numbers of R&D activities for rare and ultra-rare diseases.

Asia-Pacific is expected to grow at the highest growth rate in the forecast period of 2022 to 2029 owing to the rising awareness and target population in the particular region.

The country section of the report also provides individual market impacting factors and changes in regulation in the market domestically that impacts the current and future trends of the market. Data points like down-stream and upstream value chain analysis, technical trends and porter's five forces analysis, case studies are some of the pointers used to forecast the market scenario for individual countries. Also, the presence and availability of global brands and their challenges faced due to large or scarce competition from local and domestic brands, impact of domestic tariffs and trade routes are considered while providing forecast analysis of the country data.

Competitive Landscape and Rare Disease Genetic Testing Market Share Analysis

The rare disease genetic testing market competitive landscape provides details by competitor. Details included are company overview, company financials, revenue generated, market potential, investment in research and development, new market initiatives, global presence, production sites and facilities, production capacities, company strengths and weaknesses, product launch, product width and breadth, application dominance. The above data points provided are only related to the companies' focus related to rare disease genetic testing market.

Some of the major players operating in the rare disease genetic testing market are:

• Quest Diagnostics Incorporated (U.S.)
• Centogene N.V. (Germany)
• Strand Life Sciences (Bengaluru)
• Ambry Genetics (U.S.)
• PerkinElmer, Inc. (U.S.)
• Macrogen, Inc. (South Korea)
• Baylor Genetics (U.S.)
• HNL Lab Medicine (U.S.)
• Preventiongenetics (U.S.)
• 3billion, Inc. (South Korea)
• Arup Laboratories (U.S.)
• HNL Lab Medicine (U.S.)
•  Preventiongenetics (U.S.)
• Invitae Corporation (U.S.)
•  Eurofins Scientific (Luxembourg)
•  Strand Life Sciences (India)
•  Realm IDX, Inc. (China)
•  Myriad Genetics, Inc. (U.S.)
•  Laboratory Corporation of America Holdings (U.S.)
•  Opko Health, Inc. (U.S.)

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