Rare Disease Genetic Testing Market Growth & Trends
The global rare disease genetic testing market size is expected to reach USD 1.8 billion by 2027 expanding at a CAGR of 10.8% over the forecast period, according to a new report by Grand View Research, Inc. Conventional test methods provide delayed diagnosis. Moreover, patients need to visit physicians to correctly identify a rare condition, leading to an increased healthcare spending. This has spurred the adoption of genetic test methods for accurate and timely identification of rare conditions.
Ongoing scientific advances in this area have created new opportunities for the companies to develop solutions that can impact the management of the rare condition. Collaborations are being undertaken not only across diverse medical and scientific domains but also with various stakeholder groups, such as researchers, patients, and regulators, for new test development, thereby driving the market.
For instance, in October 2018, PerkinElmer Genomics signed an agreement with Sanofi Genzyme to introduce a free genetic testing program called the Lantern Project. The initiative was designed for patients who have or are suspected of having, certain types of lysosomal storage disorders, including Gaucher disease.
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Rare Disease Genetic Testing Market Report
Rare Disease Genetic Testing Market Report Highlights
- Neurological disorders accounted for the major revenue share in 2019 owing to availability of a substantial number of test offerings by various companies, such as Invitae and Centogene
- Furthermore, the National Institute of Neurological Disorders and Stroke supports research studies for a wide range of diseases, thereby positively impacting the segment growth
- Availability and adoption of NGS-based gene panels for cancer, neurologic disease, CVDs, and other rare disease testing has driven the NGS segment
- NGS has enabled rapid and cost-effective genetic testing by helping in determining the relevance of de novo and mosaic mutations
- It has also helped in detecting the wide phenotypic spectrum of genes, digenic inheritance, and presence of more than one rare condition in the same individual
- Thus, a significant decline in the cost of NGS has driven its adoption for molecular testing, contributing to the large share of molecular genetic tests
- Laboratories are engaged in conducting a substantial number of genetic tests. This includes labs that are accredited with CLIA for clinical cytogenetics, pathology, and chemistry, among other specialties
- Furthermore, regulatory bodies play a major role in the growth of this segment, as they help laboratories conduct effective and safe genetic testing, leading to their dominance as end-user of the market
- North America led the global market in 2019 owing to the presence of key research and diagnostic laboratories in U.S.
Rare Disease Genetic Testing Market Segmentation
Grand View Research has segmented the global rare disease genetic testing market on the basis of disease type, technology, specialty, end use, and region:
Rare Disease Genetic Testing Disease Type Outlook (Revenue, USD Million, 2016–2027)
- Neurological Disorders
- Immunological Disorders
- Hematology Diseases
- Endocrine & Metabolism Diseases
- Cancer
- Musculoskeletal Disorders
- Cardiovascular Disorders (CVDs)
- Dermatology Disease
- Others
Rare Disease Genetic Testing Technology Outlook (Revenue, USD Million, 2016–2027)
- Next-Generation Sequencing (NGS)
- Whole Exome Sequencing (WES)
- Whole Genome Sequencing (WGS)
- Array Technology
- PCR-based Testing
- FISH
- Sanger Sequencing
- Karyotyping
Rare Disease Genetic Testing Specialty Outlook (Revenue, USD Million, 2016–2027)
- Molecular Genetic Tests
- Chromosomal Genetic Tests
- Biochemical Genetic Tests
Rare Disease Genetic Testing End-use Outlook (Revenue, USD Million, 2016–2027)
- Research Laboratories & CROs
- Diagnostic Laboratories
- Hospitals & Clinics
