Global Rare Disease Genetic Testing Market Report 2022:

Dublin, Sept. 16, 2022 (GLOBE NEWSWIRE) — The “Rare Disease Genetic Testing Market Size, Share and Trend Analysis Report by Disease Type (Neurological, CVD), by Specialty (Molecular, Biochemical), by Technology (NGS, PCR-based ), by end use and segment forecast, 2022-2030″ report has been added to from offer.

The global rare disease genetic testing market size is expected to reach USD 2.52 billion by 2030, registering a CAGR of 13.94% over the forecast period, according to this report. Effective regulatory plans to address rare diseases are one of the key industry drivers. Additionally, the presence of a significant number of registries that provide relevant data and information on related diseases has contributed to revenue growth over the past few years.

Ongoing conferences to raise awareness of rare and ultra-rare diseases are expected to boost uptake of diagnostic kits and services. For example, Ergomed and PSR Orphan Experts, with their offices in the UK, Germany, the Netherlands, Poland and other countries, are involved in various awareness raising activities in this area.

Additionally, the Canadian Organization for Rare Disorders (CORD) provides a strong platform to streamline health policy and a healthcare system dedicated to caring for patients with disorders. The agency works with clinicians, researchers, governments and the diagnostics industry to advance R&D, diagnosis, treatment and service availability for all rare diseases in the country. According to the National Institutes of Health (NIH), approximately 30 million Americans have been identified with one of more than 7,000 known rare diseases. The number of patients being tested for the disease is expected to increase in the coming years with growing awareness. The United States celebrates Rare Disease Day and encourages developments in this area by raising awareness.

Additionally, the presence of the Rare Diseases Clinical Research Network (RDCRN), an NIH-funded research network of 23 active research consortia or groups that includes patients, researchers, and clinicians who focus on diagnosis and treatment unrest should have a positive impact on the industry.

About 50% of children with learning disabilities and about 60% of children with congenital conditions do not receive a definitive diagnosis to identify the cause of their disabilities. Additionally, the lack of patient and family awareness about genetic diagnosis and testing has further hampered the growth of the industry.

North America led the industry in 2021 due to the high incidence of rare diseases, a large number of registries, the presence of a large number of R&D facilities in this field and significant investment in diagnostics. Asia-Pacific is expected to register the fastest CAGR over the forecast years due to the presence of a significant number of organizations that focus on disease management.

Rare Disease Genetic Testing Market Report Highlights

  • The immunological disorders segment held a major share of the journal in 2021. An increase in multiple sclerosis cases is driving growth, as it is one of the main focus areas of this segment.
  • Based on technology, NGS segment expected to register fastest CAGR from 2022 to 2030
  • This is due to the availability and adoption of NGS-based gene panels for cancer, neurological disease, cardiovascular disease, pediatric conditions, psychiatric disorders, and other rare disease tests.
  • The specialized molecular genetic testing segment held the largest revenue share in 2021 due to high adoption in research and clinical settings. An increase in CLIA-free molecular genetic testing also offers lucrative growth opportunities
  • The research lab and CRO end-user segment led the industry in 2021 due to a large number of genetic tests performed in research labs and CROs

Market dynamics

Market factors

  • Expand the patient registry for rare diseases
  • Lower sequencing costs and technological advances in disease diagnosis
  • Launch of programs and development of new products in the diagnosis of rare diseases

Market constraints

  • Lack of an effective diagnostic framework
  • Technical challenges associated with genetic testing and data management

Market opportunities

  • Governmental and regulatory support for the diagnosis of rare diseases

Market challenges

  • Limited awareness of rare diseases

Main topics covered:

Chapter 1 Research Methodology

Chapter 2 Executive Summary

Chapter 3 Market Variables, Trends and Scope

Chapter 4 Industry Outlook

Chapter 5 Disease Types Business Analysis

Chapter 6 Technology Business Analysis

Chapter 7 Analysis of Specialty Business

Chapter 8 End-Use Business Analysis

Chapter 9 Regional Business Analysis

Chapter 10 Business Profiles

Companies cited

  • Centogen SA
  • Invitee Corporation
  • Billion, Inc.
  • Arup Laboratories
  • Eurofins Scientific
  • Eurofins Genome Group
  • Life Sciences Stream
  • Quest Diagnostics Incorporated
  • Genetic Master Plan
  • Perkinelmer Genomics
  • Realm Idx, Inc.
  • Amber genetics
  • Psomagen inc.
  • Baylor Genetics
  • Color Genomics, Inc.
  • Health network laboratories
  • Genetic Prevention
  • Offspring, Inc.
  • Coopersurgical, Inc.
  • Fulgent Genetics Inc,
  • Myriad Genetics, Inc.
  • Conseilsyl, Inc.
  • Laboratory Corporation of America Holdings
  • Opko Health, Inc.
  • Genedx
  • Artemis DNA

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