Rare Disease Diagnostics Market Growth Trajectory Through 2024-2033

The Rare Disease Diagnostics Global Market Report 2024 by The Business Research Company provides market overview across 60+ geographies in the seven regions – Asia-Pacific, Western Europe, Eastern Europe, North America, South America, the Middle East, and Africa, encompassing 27 major global industries. The report presents a comprehensive analysis over a ten-year historic period (2010-2021) and extends its insights into a ten-year forecast period (2023-2033).

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According to The Business Research Company’s Rare Disease Diagnostics Global Market Report 2024, The rare disease diagnostics market size has grown strongly in recent years. It will grow from $32.15 billion in 2023 to $35 billion in 2024 at a compound annual growth rate (CAGR) of 8.9%. The growth in the historic period can be attributed to the rise in demand for cloud-based diagnostics, increased focus on improving efficiency, increased prevalence of neurological disease, increased immunological disorders, increased healthcare spending.

The rare disease diagnostics market size is expected to see strong growth in the next few years. It will grow to $49.94 billion in 2028 at a compound annual growth rate (CAGR) of 9.3%. The growth in the forecast period can be attributed to increasing prevalence of rare diseases, increasing government initiatives, increasing number of hospitals and diagnostic laboratories, growing hematology diseases, increasing healthcare infrastructure. Major trends in the forecast period include advancements in genetic testing technologies, introduction of whole-genome sequencing and next-generation sequencing (ngs), extensive investments, strategic collaborations for research initiatives.

The increasing incidence of rare diseases is expected to propel the growth of the rare disease diagnostics market going forward. A rare disease refers to a low-prevalence health issue that, in comparison to other common diseases in the population, only affects a tiny number of people. Rare disease diagnostics help in the better management of the disease, the identification of potential therapeutics, and the avoidance of unnecessary treatments that may have severe side effects that aid in efficacious treatment. For instance, in February 2021, according to the International Osteoporosis Foundation (IOF), a Switzerland-based government organization, more than 300 million people in the world suffered from rare diseases, which affect 3.5% to 5.9% of the world’s population. Furthermore, in November 2022, according to Health Match, an Australia-based digital health company, there are around 150 rare kidney ailments, and these diseases have a high prevalence around the world, with 60–80 incidences per 100,000 people in America and Europe. Therefore, the increasing incidence of rare diseases is driving the growth of the rare disease diagnostics market.

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The rare disease diagnostics market covered in this report is –

1) By Test Type: Genetic Test, General Lab Test, Imaging Test
2) By Technology: Capillary Sequencing, Whole Genome Sequencing, Whole Exome Sequencing, Microarrays
3) By Sample Type: Deoxyribonucleic Acid (DNA) Sample, Buccal Swab Sample, Blood, Saliva
4) By Disease Type: Gastroenterology Disease, Endocrine And Metabolism Disorders Disease, Hematology And Oncology Disease, Dermatology Disease, Cardiovascular Disorders, Neurology Disease
5) By End User: Hospital Laboratories, Diagnostics Laboratories, Genetic Testing Laboratories, Cancer Research Laboratories

Advancements in technology are a key trend gaining popularity in the rare disease diagnostics market. Major companies operating in the rare disease diagnostics market are adopting new technologies to sustain their position in the market. For instance, in April 2023, Centogene GmbH, a Germany-based rare disease company, launched CentoGenome, a whole genome sequencing solution for the diagnosis of rare and neurodegenerative diseases. CentoGenome is an enhanced next-generation sequencing (NGS)-based assay that offers whole genome sequencing (WGS) tests for both rare and neurodegenerative disorders, covering almost all disease-causing variants in a single assay. Additionally, it has the best sensitivity for detecting Copy Number Variations (CNVs) linked with Spinal Muscular Atrophy (SMA), as well as complicated disease-causing variations associated with Gaucher Disease (GD) and susceptibility to GBA1-related Parkinson’s Disease (PD). Centogenome’s implementation of PCR (polymerase chain reaction)-free technology in difficult-to-sequence genomic areas will greatly minimize bias and offer high-quality sequencing data, allowing for a deeper understanding of coding, regulatory, and intronic regions.

The rare disease diagnostics market report table of contents includes:

1. Executive Summary
2. Rare Disease Diagnostics Market Characteristics
3. Rare Disease Diagnostics Market Trends And Strategies
4. Rare Disease Diagnostics Market analysis
5. Rare Disease Diagnostics Market Size And Growth
6.Rare Disease Diagnostics Segmentation
7.Rare Disease Diagnostics Regional And Country Analysis
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27.Rare Disease Diagnostics Competitive Landscape And Company Profiles
28.Rare Disease Diagnostics Key Mergers And Acquisitions
29.Rare Disease Diagnostics Future Outlook and Potential Analysis

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