Global Rare Disease Diagnostics Market Size is Estimated to Reach USD 71.2 Billion by 2031, Growing at a CAGR of 8.62%: Straits Research

Patient demand, industry investment, legislation that allow the sale of tests without FDA approval, and better understanding of the molecular basis of diseases are some of the other factors that are fuelling the expansion.

New York, United States, Feb. 12, 2024 (GLOBE NEWSWIRE) -- This study examines the effects of uncommon diseases on a significant portion of the global population. There are over 7000 uncommon diseases, and inadequate information is available for many of them, limiting diagnostic and therapeutic options. This further complicates the distinction between clinically comparable illnesses. Varied countries have different definitions of rare diseases. Rare diseases are genetically inherited, difficult and costly to detect, and have few available treatments.

Since the technology was initially commercialised with whole-genome and exome sequencing, rare illness diagnostics have expanded dramatically, but it is important to measure this growth and explain future trends. The industry of genomic testing is growing, and its rapid expansion is anticipated to continue. However, there are considerable obstacles that, if not solved, may impede future progress.         

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The unmet clinical needs

Significant elements fueling the expansion of the sequencing industry are the unmet clinical need for improved tools to forecast, diagnose, treat, and monitor diseases. In addition to a greater understanding of the molecular basis of disease, patient demand, industry investment, and policies that permit the commercialization of tests without FDA approval also contribute to the expansion. According to Straits Research, “The global Rare Disease Diagnostics Market Size was valued at USD 33.83 billion in 2021 and is projected to reach USD 71.2 billion by 2030, registering a CAGR of 8.62% from 2022 to 2030.”

Drop in the cost of genetic testing and medical insurance
As the cost of WES decreases, it is anticipated that the cost of genetic testing will decrease dramatically. Make the test more accessible and affordable. In addition, medical insurance policies based on WES genetic testing have contributed to the expansion of this market segment. Based on the recommendations of medical specialists, a significant number of private health insurance companies will pay for genetic testing in full or in part.

Regional Analysis of The Global Rare Disease Diagnostics Market

The market is split into North America, Europe, Asia-Pacific, and LAMEA.

In 2019, North America held the biggest market share at almost 47 percent. A high frequency of rare disorders, a big number of rare disorders registries, the presence of a significant number of R&D facilities for rare and ultra-rare diseases, and strong investments in detecting rare disorders in the region all contribute to the expansion of the market. According to the National Institutes of Health (NIH), more than 7,000 uncommon diseases have been found in around 30 million Americans. In addition, the number of patients undergoing disease testing is anticipated to rise in the coming years, contributing to market expansion.

Asia-Pacific is anticipated to have the highest CAGR between 2020 and 2027 due to the increasing awareness and target demographic in Asian nations. China is aiming to refocus its healthcare system on the diagnosis and treatment of rare diseases. The Chinese government has placed uncommon disease management as a public health priority on its Healthy China 2030 road map. In addition, the country published its first list of uncommon ailments in June 2018 to assist patients in locating effective treatments at their local institutions.

Key Highlights

  • Research laboratories and CROs accounted for the highest market share of 48% in 2020.
  • North America is dominating the global market and is expected to do the same during the forecast period

Competitive Players in The Global Rare Disease Diagnostics Market

23andMe Inc., 3billion, Inc., Agilent Technologies, Inc., Beijing Genomics Institute (BGI), CENTOGENE N.V., Eurofins Scientific SE, GENEWIZ, Inc., Illumina, Inc., In-Depth Genomics, Invitae Corporation, Laboratory Corporation of America Holdings, OPKO Health, PerkinElmer, Inc., Quest Diagnostics Incorporated, Travere Therapeutics, Inc.

Recent Developments by Key Players

  • In January 2020, Blueprint Genetics was bought by Quest Diagnostics to expand its knowledge of genetic abnormalities and rare diseases.
  • In February 2020, Dante Labs has introduced a $299 WGS programme for people with uncommon disorders. The service consists of WGS 30X based on Novaseq6000 technology, data analysis, and individualised treatment for certain disorders.
  • In June 2018, Centogene launched its diagnostic laboratory in Cambridge, Massachusetts.

The Global Rare Disease Diagnostics Market Segmentation

By Disease Type

  • Gastroenterology Disease
  • Endocrine and Metabolism Disorders Disease
  • Cardiovascular Disorders
  • Neurology Disease
  • Hematology and Oncology Disease
  • Dermatology Disease

By Product Type

  • Kits and Assays
  • Panels

By Sample Type

  • DNA Sample
  • Buccal Swab Sample
  • Blood
  • Saliva

By Technology

  • Next-Generation Sequencing
  • Whole Genome Sequencing
  • Whole Exome Sequencing
  • Microarrays

By Trait Type

  • Inherited
  • Acquired

By Test Type

  • Genetic Test
  • General Lab Test
  • Imaging Test

By Age Group

  • Children Age
  • Adult Age

By End-User

  • Hospital Laboratories
  • Diagnostics Laboratories
  • Genetic Testing Laboratories
  • Cancer Research Laboratories
  • Cancer Research Institutes
  • Universities Research Laboratories

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About Straits Research Pvt. Ltd.

Straits Research is a market intelligence company providing global business information reports and services. Our exclusive blend of quantitative forecasting and trends analysis provides forward-looking insight for thousands of decision-makers. Straits Research Pvt. Ltd. provides actionable market research data, especially designed and presented for decision making and ROI.

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