Global Rare Disease Genetic Testing Market Set to Soar, Reaching $1249.63 Million by 2028: Demand for Personalized Medication Drives Growth


Dublin, Oct. 31, 2023 (GLOBE NEWSWIRE) -- The "Rare Disease Genetic Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, 2018-2028F" report has been added to ResearchAndMarkets.com's offering.

The global Rare Disease Genetic Testing Market, which registered a valuation of USD 789.83 million in 2022, is on the cusp of robust growth, projected to attain a Compound Annual Growth Rate (CAGR) of 8.04% by 2028, reaching USD 1249.63 million.

Pioneering Advancements in Rare Disease Genetic Testing:

Rare Disease Genetic Testing is instrumental in diagnosing genetic mutations responsible for rare diseases, which affect a small percentage of the population due to specific genetic mutations or alterations. These tests analyze an individual's DNA to identify abnormalities or mutations, enabling accurate diagnosis, understanding disease causes, and guiding personalized treatment strategies. Next-generation sequencing (NGS) is among the techniques used for these tests, enhancing efficiency and accuracy.

Key Market Drivers:

  1. Rising Prevalence of Rare Diseases: Rare diseases affect an estimated 260-440 million people worldwide, driving the demand for genetic testing. As awareness grows, healthcare providers and patients seek accurate and timely diagnoses, fueling market growth.
  2. Demand for Personalized Medication: The surge in personalized medicine, tailoring treatments to individual genetic makeup, necessitates genetic testing for identifying rare disease genetic mutations, enabling targeted treatments.
  3. Awareness and Advocacy: Increasing awareness and advocacy efforts for rare diseases lead to higher demand for testing services. Collaboration between advocacy groups, healthcare providers, and researchers improves access and funding.

Key Market Challenges:

  1. Diagnostic Complexity: The complexity of rare diseases can lead to delayed or misdiagnosis. Lack of standardized diagnostic criteria and multiple genes and variants involved make accurate mutation identification challenging.
  2. Limited Knowledge and Awareness: Limited awareness among healthcare providers hinders genetic testing adoption. Misdiagnosis due to lack of familiarity with rare disease profiles leads to inappropriate treatments.
  3. Ethical and Privacy Concerns: Obtaining informed consent for genetic testing is complex, and privacy concerns around genetic data discourage testing participation. Ethical dilemmas and impact on family members create challenges.

Key Market Trends:

  1. Growth of Direct-to-Consumer (DTC) Testing: DTC testing empowers consumers with genetic information, potentially identifying markers associated with rare diseases. It increases general genetics and health awareness, aiding rare disease research and discoveries.

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

Report Scope:

In this report, the Global Rare Disease Genetic Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

Global Rare Disease Genetic Testing Market, By Disease Type:

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

Global Rare Disease Genetic Testing Market, By Speciality:

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

Global Rare Disease Genetic Testing Market, By Technology:

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

Global Rare Disease Genetic Testing Market, By End User:

  • Research Laboratories & CROs
  • Hospitals & Clinics
  • Diagnostic Laboratories

Global Rare Disease Genetic Testing Market, By region:

  • North America
  • United States
  • Canada
  • Mexico
  • Asia-Pacific
  • China
  • India
  • South Korea
  • Australia
  • Japan
  • Europe
  • Germany
  • France
  • United Kingdom
  • Spain
  • Italy
  • South America
  • Brazil
  • Argentina
  • Colombia
  • Middle East & Africa
  • South Africa
  • Saudi Arabia
  • UAE

Key Attributes:

Report AttributeDetails
No. of Pages181
Forecast Period2023 - 2028
Estimated Market Value (USD) in 2023$789.83 Million
Forecasted Market Value (USD) by 2028$1249.63 Million
Compound Annual Growth Rate8.0%
Regions CoveredGlobal

For more information about this report visit https://www.researchandmarkets.com/r/x6o4kg

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Rare Disease Genetic Testing Market

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