Global Rare Disease Genetic Testing Market to be dominated by Molecular Genetic Tests through 2028
Increasing awareness and advocacy of Rare Disease
Genetic Testing and rising demand for personalized medications and initiatives
taken by the government to support the of Rare Disease Genetic Testing are the
major drivers for the Global Rare Disease Genetic Testing Market.
According to TechSci Research report, “Rare
Disease Genetic Testing Market –Global Industry Size, Share, Trends, Competition, Opportunity and Forecast,
2018-2028”,
the 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. This can be ascribed
to collaborations and partnerships among leading companies with a diverse
approach to merge the expertise of individual companies and to strengthen their
position in the market.
Rare Disease Genetic
Testing is used for various purposes related to the diagnosis, prognosis,
treatment, and management of rare genetic disorders. It involves analyzing an
individual's DNA to identify specific genetic mutations or variations that may
be responsible for the development of a rare disease. Significant demand for
improved diagnostic capabilities across the globe represents one of the key
factors creating a positive outlook for the market. Furthermore, the increasing
prevalence of genetic based rare diseases as many rare diseases have a genetic
component, meaning they result from specific genetic mutations is also driving
the market growth. These healthcare industries are consumer-based, contributing
to the economy by providing diagnosis along the timely diagnosis of disease so
that proper treatment can be done. Genetic testing is used for population-wide
screening to identify individuals at risk of a specific rare disease.
This
approach can help target public health interventions and preventive measures
lead to the increasing demand for diagnosis of Rare Disease Genetic Testing.
According to a report published in April 2023, The prevalence of rare diseases
remains unknown in low- and middle-income (LMIC) countries. Although the
incidence of autosomal dominant (X-linked) and X-linked diseases is similar in
LMIC and high-income (HIE) countries, the incidence of recessive (Monogenic)
disorders is higher in HIE countries because consanguineous marriage in
minority ethnic groups is more common in HIE countries. Therefore, the
increasing demand for early diagnosis and intervention in the healthcare
industry will drive the diagnosis of Rare Disease through Genetic Testing
market. Genetic testing provides valuable information for developing
personalized treatment plans for Endocrine & Metabolic disorders.
Understanding the specific genetic mutations involved can guide the selection
of targeted therapies and interventions across the globe represents one of the
key factors stimulating the growth of the market.
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Moreover, leading players
operating in the industry are focusing on technological innovations to offer a
better customer experience. They are also engaging in partnerships and
collaborations to increase their brand presence. Apart from this, NGS
technologies have revolutionized genetic testing by enabling the rapid and
cost-effective sequencing of large portions of the genome. Whole exome
sequencing (WES) and whole genome sequencing (WGS) have become increasingly
utilized for identifying genetic variants associated with rare diseases.
Moreover, this technology allows the analysis of individual cells at the
genomic level, providing insights into genetic heterogeneity within tissues and
organs. It has applications in understanding rare diseases that involve
cellular mosaicism. This, along with the rising demand for precision and
personalized medication, is driving the market. Governments worldwide
acknowledge the economic and environmental significance of the Rare Disease
Genetic Testing industry and have implemented various initiatives to foster its
innovation and growth.
There is a growing emphasis on patient-centric approach There
is a growing emphasis on placing patients at the center of rare disease genetic
testing efforts. Patient advocacy, engagement, and education are emphasized to
ensure that individuals and their families are informed and empowered
throughout the testing process. The patient-centric approach in healthcare,
including rare disease genetic testing, places the individual patient at the
center of all decisions, services, and interventions. The primary objectives of
a patient-centric approach are to ensure that healthcare and genetic testing
services are tailored to meet the specific needs, preferences, and well-being
of the patient. Empowerment and Informed
Decision-Making, Improved Patient
Experience, Enhanced Access and Convenience, and Respect for
Patient Preferences.
They also provide support for recognizing and respect
individual preferences regarding genetic testing, including the choice to
undergo testing, receive test results, and participate in research. These
projects serve as tangible examples of innovation and encourage other industry
players to embrace similar approaches. Collaboration plays a pivotal role in
the pursuit of environmental sustainability within the Rare Disease Genetic
Testings industry. The testing and diagnostics industry, historically
associated with time consuming and having several errors in diagnosis the
origins of medical testing and diagnostics can be traced back to ancient
civilizations, where observational methods and physical examinations were used
to assess health conditions because of this there is difficult to maintain the
large number of data base. Testing and diagnosis are experiencing a fundamental
transformation.
Through strategic partnerships, brands, manufacturers, and Rare
Disease Genetic Testing suppliers can collaborate to implement sustainable
practices that effectively reduce the errors and save time. The continued
evolution of next-generation sequencing (NGS) and other genetic testing
technologies has led to increased accuracy, efficiency, and accessibility of
rare disease genetic testing. NGS has become more affordable and widespread,
allowing for broader adoption. More regions and countries are expanding their
newborn screening programs to include a broader range of rare genetic
disorders, enabling early detection and intervention. Ralph Advances in gene
therapy and genetic research have led to the development of innovative
treatments for certain rare genetic disorders, driving the need for genetic
testing to identify eligible patients.
Regulatory Changes and
Oversight: Regulatory agencies are paying increased attention to the quality
and accuracy of genetic testing, leading to the establishment of clearer
guidelines and standards.
However, Diagnostics
Complexity in Testing and limited knowledge are expected to slow down the
growth of the market in the coming years.
The Global Rare Disease
Genetic Testing Market segmentation is based on Disease Type, By Specialty, By
Technology, By End-User, By Company, and Region.
Some of the major companies
operating in the Global
Rare Disease Genetic Testing Market include:
- 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
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“Certain regions, particularly North America, are
projected to exert significant demand for Rare Disease Genetic Testing
worldwide. The growth in the competitive landscape and the presence of
well-established companies in the market, committed to enhancing their Rare
Disease Genetic Testing productivity each year, are expected to contribute to a
remarkable growth of the Global Rare Disease Genetic Testing Market in the
forecast period," said Mr. Karan Chechi, Research Director with TechSci
Research, a research-based Global management consulting firm.
Rare Disease Genetic
Testing Market - Global Industry Size, Share, Trends, Opportunity, and
Forecast, 2018-2028 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, Biochemical Genetic Tests) By Technology (Next-Generation Sequencing
(NGS), Whole Exome Sequencing, Whole Genome Sequencing, Array Technology,
PCR-based Testing, FISH, Sanger Sequencing, Karyotyping), By End User (Research
Laboratories & CROs, Hospitals & Clinics, Diagnostic Laboratories), By
Region, Competition
has evaluated the future growth potential of Global Rare Disease Genetic
Testing Market and provides statistics & information on market size,
structure, and future market growth. The report intends to provide innovative
market intelligence and help decision makers take sound investment decisions.
Besides, the report also identifies and analyzes the emerging trends along with
essential drivers, challenges, and opportunities in Global Rare Disease Genetic
Testing Market.
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