Rare Disease Diagnostics Industry Anticipated to Reach $26.7 Billion by 2024 - Market Shares by Disease Class, Indication, Analysis Platform, Analysis Target, Test Purpose and Region

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Jul 01, 2020, 08:45 ET

DUBLIN, July 1, 2020 /PRNewswire/ -- The "Rare Disease Diagnostics: Technologies and Global Markets" report has been added to ResearchAndMarkets.com's offering.

The global rare disease diagnostics market should reach $26.7 billion by 2024 from $17 billion in 2019, rising at a CAGR of 9.5% over the forecast period.

The scope of the report includes rare disease diagnostic technologies, applications, industries, initiatives, patents and companies. The market for rare disease diagnostic products and services is given for 2018 and 2019, and then forecast through 2024.

This report reviews the main diagnostic technologies and explains why genetic variation is important in clinical testing and disease. It then discusses significant large-scale research initiatives that impact rare disease diagnostic applications. Of particular interest is a discussion of global population-scale sequencing projects and their likely impact in linking genetic variation to rare disease diagnostics. The main market driving forces for rare disease diagnostic products and services are listed and discussed.

The report categorizes and quantifies the rare disease diagnostics market by the disease category, technology platform, test purpose, analysis target and geography segments.

More than 95 companies in the rare disease diagnostic industry are profiled in this report.

The research also provides a summary of more than 50 of the main industry acquisitions and strategic alliances that took place from April 2018 through April 2020, including key alliance trends.

The report includes:

An overview of the global markets and technologies for rare disease diagnostics and discussion on market opportunities for these technologies
Analyses of global market trends with data from 2018, 2019 and projections of compound annual growth rates (CAGRs) through 2024
Evaluation of current market size, market forecast and description of market driving forces
Detailed market share analysis and quantification of rare disease diagnostics markets by disease class, indication, analysis platform, analysis target, test purpose and region
Briefing about rare disease therapies and how they influence the use of rare disease diagnostics
Details about Orphan Drug Act and other initiatives for rare diseases
Coverage of the key industries associated with developing and marketing rare disease diagnostics, including the DNA sequencing industry, PCR industry, and laboratory services industry
A look at the key industry acquisitions and strategic alliances and discussion on the key partnering trends
Profiles of key companies in the rare disease diagnostics industry, including 10x Genomics Inc., Agilent Technologies Inc., Freenome Inc., GenapSys Inc., Illumina Inc., Myriad Genetics Inc. and PerkinElmer Inc.

Market Insights

Rare diseases comprise a growing public health priority, as they affect upward of 300 million people globally and they are difficult to diagnose and treat.

There is a pressing need for better ways to detect and diagnose rare diseases, as well as to provide companion diagnostics for therapy guidance, clinical trials enrollment and therapy monitoring applications.

Better diagnostic tests for rare diseases can make significant differences in the lives of those affected by these conditions. Many rare diseases go undiagnosed for long periods of time because patients, families and physicians may have limited awareness of certain diseases, and the symptoms may not be informative to healthcare workers who may not have encountered such diseases before.

Extended time to diagnosis of a rare disease, along with so-called diagnostic odysseys, can lead to negative outcomes, including misdiagnosis or disease progression. Rapid, accurate diagnostics can significantly shorten these diagnostic odysseys.

In addition to early detection and diagnostic potential, rare disease therapeutics will be important in orphan drug development and use. Orphan drugs address rare disease patient populations, and they are expected to have a high growth rate through 2024. By 2024, orphan drugs may make up as much as one-fifth of global prescription sales. Rare disease diagnostics can be used to help physicians make proper decisions regarding which therapies to use and ways to monitor the efficacy of those therapies during treatment courses. Rare disease diagnostics can also be used to help select patients for orphan drug clinical trials.

More than 70% of rare diseases are inherited conditions, and they thus have genetic components, so this industry relies heavily on genetic analysis methods, including polymerase chain reaction (PCR), next-generation sequencing (NGS) and Sanger sequencing.

Key Topics Covered

Chapter 1 Introduction

Study Goals and Objectives
Reasons for Doing the Study
Scope of Report
Methodology
Information Sources
Geographical Breakdown

Chapter 2 Summary and Highlights

Chapter 3 Overview

Rare Disease Diagnostic Technologies and Markets
Large-Scale Initiatives and Consortia
Rare Disease Diagnostics Market Driving Forces
Global Rare Disease Diagnostics Markets

Chapter 4 Technology Background

Rare Diseases
Rare Disease Diagnostics Key Genetic Analysis Platforms
Sanger Sequencing
Next-Generation Sequencing
Polymerase Chain Reaction

Chapter 5 Rare Disease Diagnostics Initiatives

BabySeq
Blood Profiling Atlas
Cancer-ID
Cancer Moon Shots Program
China Precision Medicine Initiative
ClinGen
ClinVar
Ending the Diagnostic Odyssey Act
EpiFemCare
France Genomic Medicine Plan
Friends of Cancer Research Project
Global Commission to End the Diagnostic Odyssey for Children with a Rare Disease
Integration of Imaging and Fluid-Based Tumor Monitoring in Cancer Therapy Program
Liquid Biopsies and Imaging for Improved Cancer Care
Matchmaker Exchange
Million Veteran Program
MIND
MedSeq
Precancer Atlas
Precision Medicine Initiative
Prompt
QuIP
TopMed
Treehouse Childhood Cancer Initiative
Very Rare Cancer Consortium
Population Sequencing Programs

Chapter 6 Rare Disease Diagnostic Industries

Sequencing Instrument Industry
Long-Read Sequencing Industry
Sequencing Informatic Industry
Polymerase Chain Reaction Industry
Genomic Medicines: Gene Therapy Industry
Genomic Medicines: Genetically Modified Cell Therapy Industry
Genomic Medicines: Gene Editing Therapy Industry
Genomic Medicines: RNA Therapy Industry
Rare Disease Diagnostics Artificial Intelligence Industry

Chapter 7 Rare Disease Diagnostics Strategic Alliances and Acquisitions

Acquisitions
Strategic Alliances
Key Trends
Alliance Summaries

Chapter 8 Rare Disease Diagnostics Markets

Rare Disease Diagnostics Market Driving Forces
Pressing Medical Need
Orphan Drug Act
Extensive Late-Stage Clinical Pipeline of Innovative Rare Disease Medicines
Rare Disease Initiatives
Rare Disease Diagnostics Markets
Cardiovascular
Central Nervous System
Metabolic and Endocrine Disorders
Hematology
Immune System and Inflammation-Related Disorders
Musculoskeletal
Ophthalmology
Rare Cancers
Respiratory
Mass Spectrometry
Microarray
Next Generation Sequencing
Polymerase Chain Reaction
Sanger Sequencing
Other
Single Genes
Multiple Genes
Whole Genome and Whole Exome Market
Other Genomic Variants
Proteins
Screening and Early Detection Market
Diagnosis Market
Therapy Guidance Market
Monitoring Market
North America
Europe
Asia-Pacific
Rest of the World

Chapter 9 Rare Disease Diagnostics Patents and Intellectual Property

Rare Disease Diagnostics Patents
Related Gene Editing Patents
Gene-Editing Patents: Sangamo Case Study
Gene Therapy Delivery Patents
RNA Therapy-Related Patents
CAR T-Cell Patents

Chapter 10 Company Profiles

10X Genomics Inc.
23Andme Inc.
3Billion Inc.
Adaptive Biotechnologies Inc.
Admera Health
Agilent Technologies Inc.
Alcediag
Amarantus Bioscience Holdings Inc.
Ambry Genetics
Archimedlife Laboratories
Arup Laboratories
Astridbio Technologies Kft.
Asuragen Inc.
Athena Diagnostics Inc.
Base4 Innovation Ltd.
Baylor Genetics
BC Platforms
Berry Genomics Co., Ltd.
Bgi Shenzhen
Bio-Rad Laboratories Inc.
Biocept Inc.
Cegat Gmbh
Cellmax Life
Celsee Diagnostics
Centogene Ag
Cergentis B.V.
Danaher Corp.
Dante Labs
Devyser Ab
Diacarta Inc.
Diploid
Directed Genomics Llc
Dnanexus Inc.
Electronic Biosciences
Epic Sciences Inc.
Eurofins Scientific
Expedeon Ag
Fabric Genomics
Freenome Inc.
Fulgent Genetics
Fusion Genomics Corp.
Genapsys Inc.
Genedx Inc.
Genemind Biosciences Co., Ltd.
Genetics Research Llc
Genexosome Technologies Inc.
Genomatix Software Gmbh
Genome Profiling Llc
Genomenon
Genomic Expression
Genomnia Srl
Genomoncology
Genoox
Genospace
Gigagen Inc.
Golden Helix
Grandomics Biosciences Co., Ltd.
Guardiome
Helix Opco Llc
Htg Molecular Diagnostics Inc.
Illumina Inc.
Invitae Inc.
Kingmed Diagnostics Center Co., Ltd.
Laboratory Corp. Of America Inc.
Laboratory For Molecular Medicine
Leucine Rich Bio Pvt., Ltd.
Loop Genomics
Macrogen Inc.
Mayo Medical Laboratories
Medgenome Labs Pvt., Ltd.
Molecular Loop Biosolutions Llc
Myriad Genetics Inc.
New England Biolabs
Newgene Ltd.
Nostros Genomics
Novogene Co., Ltd.
Oxford Nanopore Technologies Ltd.
Pacific Biosciences Of California Inc.
Perkinelmer Inc.
Personal Genome Diagnostics Inc.
Preventiongenetics Inc.
Q-State Biosciences
Quantapore Inc.
Quantum Biosystems Inc.
Quest Diagnostics Inc.
Real-Time Genomics Inc.
Retrophin
Roche Holding Ag
Seven Bridges Genomics Inc.
Sistemas Genomicos Sl
Softgenetics Llc
Sophia Genetics
Spera Medical
Strand Life Sciences Pvt., Ltd.
Supratech Micropath Laboratory & Research Institute Pvt., Ltd.
Thermo Fisher Scientific Inc.
Twist Bioscience

For more information about this report visit https://www.researchandmarkets.com/r/rp6ok6

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