Rare Genetic Diseases Testing Kit Market Size Projection (2024-2030)

The anticipated trajectory of the Rare Genetic Diseases Testing Kit market indicates a growth from USD 912.70 Million in 2023 to approximately USD 2487.53 Million by 2030, with a projected Compound Annual Growth Rate (CAGR) of 15.4% during the forecast period spanning from 2024 to 2030.

Overview of the Rare Genetic Diseases Testing Kit Market:

Genetic testing, a pivotal medical procedure detecting variations in genes, chromosomes, and proteins, serves to confirm or negate suspected genetic conditions or diseases. Moreover, it aids in assessing the likelihood of inheriting or developing genetic disorders within familial lines. With approximately 77,000 genetic tests presently available and ongoing developments to meet growing demands, the global rare genetic diseases testing kit market witnesses significant impetus. This momentum stems from escalating incidences of genetic disorders, advancements in genetic testing technologies, and substantial investments in research and development by industry leaders. Concurrently, increased healthcare expenditure across various developed and developing nations, propelled by governmental awareness initiatives, sets the stage for manufacturers to introduce enhanced genetic testing solutions in the market in forthcoming years.

Impact of COVID-19 on the Rare Genetic Diseases Testing Kit Market:

The onset of the COVID-19 pandemic in December 2019 triggered a global health crisis, disseminating swiftly across nations. Countries like China, Iran, Italy, Spain, the Republic of Korea, Germany, France, and the US faced significant casualties. The pandemic precipitated disruptions across industries worldwide due to widespread lockdowns and shutdowns. Notably, the healthcare sector encountered substantial challenges including supply chain disruptions, technological impediments, workforce shortages, and operational halts. Furthermore, patients with undiagnosed rare diseases faced compounded health adversities, exacerbating diagnostic uncertainties and complicating medical interventions. Clinical trials also bore the brunt of the pandemic, encountering constraints in patient recruitment and retention, thereby impeding research progress.

Market Drivers:

Escalating prevalence of genetic disorders drives demand for rare genetic diseases testing kits:

The rising incidence of genetic disorders and associated health complications poses considerable challenges, with genetic anomalies accounting for approximately 2% - 5% of live births and contributing to about 30% of pediatric hospital admissions. Consequently, the escalating prevalence of these conditions fuels demand for rare genetic diseases testing kits globally.

Advancements in technology and heightened R&D investments propel market growth:

The advent of next-generation sequencing (NGS), particularly in oncology and chronic disease management, underscores a shift toward genomics-focused pharmacology. NGS offers superior precision, sensitivity, and speed compared to conventional methods, revolutionizing oncological practices. Continued scientific innovations facilitate the development of technologies pivotal in disease management, fostering collaborations among stakeholders and driving market expansion. Moreover, increasing health consciousness among individuals augments the healthcare sector, consequently propelling the rare genetic diseases testing kit market.

Market Restraints:

The substantial upfront costs associated with device installation and genetic testing R&D pose challenges to market growth:

High initial and fluctuating costs linked with sequencing and genetic testing are anticipated to impede the growth of the global rare diseases testing kit market. Additionally, achieving precise diagnoses for genetic disorders presents a significant healthcare sector challenge, incurring substantial expenses for detection and diagnosis, thus moderating market growth rates.

This research report on the Rare Genetic Diseases Testing Kit Market is segmented and sub-segmented based on Type, Technology, Speciality, End-User, Region, and Companies.

Rare Genetic Diseases Testing Kit Market – By Type

• Diagnostic Testing
• Prenatal Testing
• New Born Screening
• Predictive and Pre symptomatic Testing
• Carrier Testing
• Other Types

Categorized by type, the market for rare genetic diseases testing kits is divided into six segments: Diagnostic Testing, Prenatal Testing, New Born Screening, Predictive and Pre symptomatic Testing, Carrier Testing, and Other Types.

Rare Genetic Diseases Testing Kit Market – By Technology

• Polymerase Chain Reaction
• DNA Sequencing (NGS-Based Testing)
• Whole Genome Sequencing
• Microarrays
• Fluorescence In Situ Hybridization (FISH)
• Others

Segmented by technology, the rare genetic diseases testing kit market is divided into six segments: Polymerase Chain Reaction, DNA Sequencing (NGS-Based Testing), Whole Genome Sequencing, Microarrays, Fluorescence in Situ Hybridization (FISH), and Others. The Next-Generation Sequencing (NGS) technology segment leads with the largest revenue share, accounting for approximately 35% and dominating the segment as of 2022. The widespread availability and rapid adoption of NGS-based gene panels for various diseases have propelled this segment, with further growth expected through strategic initiatives by major industry players.

Rare Genetic Diseases Testing Kit Market – By Specialty

• Molecular Genetic Tests
• Chromosomal Genetic Tests
• Biochemical Genetic Tests

Distinguished by specialty, the rare genetic diseases testing kit market is segmented into three categories: Molecular Genetic Tests, Chromosomal Genetic Tests, and Biochemical Genetic Tests. The molecular genetic tests segment holds the highest global market share, surpassing 41.00% of total revenue in 2022. This segment is poised for continued dominance, exhibiting the highest Compound Annual Growth Rate (CAGR) throughout the forecast period (2023-2028). Factors such as technological advancements and enhanced competence in managing high-output technologies within clinical settings are anticipated to propel segment growth. Additionally, the availability of genome sequencing as an advanced and unbiased testing method has contributed to declining costs of sequencing tests and the rapid development of next-generation sequencing-based tests.

Rare Genetic Diseases Testing Kit Market – By End-User

• Hospitals
• Clinics
• Diagnostic Centers
• Private Clinics
• Laboratory Service Providers
• Private Laboratories

Segmented by end-user, the rare genetic diseases kit market encompasses six segments: Hospitals, Clinics, Diagnostic Centers, Private Clinics, Laboratory Service Providers, and Private Laboratories. Research laboratories currently lead the global market, commanding over 46.90% of total revenue in 2022. These laboratories offer solutions across various specialties, including molecular genetic tests, chromosomal genetic tests, and biochemical genetic tests. Diagnostic laboratories are expected to experience the fastest CAGR over the forecast period, driven by increasing mergers and collaboration activities with genetic testing companies.

Rare Genetic Diseases Testing Kit Market – By Region

• North America
• Europe
• Asia-Pacific
• South America
• Middle East and Africa

Regionally, the rare genetic diseases testing kit market is segmented into five major regions: North America, Europe, Asia-Pacific, South America, and Middle East and Africa. North America currently dominates the market, attributed to the rising prevalence of genetic disorders within the population and extensive research and development activities. North America is expected to maintain its dominance throughout the forecast period, owing to genetic defects, chromosomal abnormalities, and ongoing research initiatives.

Rare Genetic Diseases Testing Kit Market – By Companies

Key players in the rare genetic diseases testing kit market include:

1. Thermo Fisher Scientific Inc.
2. Invitae Corporation
3. Bio-Rad Laboratories Inc.
4. Perkin Elmer Inc.
5. Illumina Inc.
6. QIAGEN
7. F. Hoffmann-La Roche Ltd.
8. Fulgent Genetics
9. Myriad Genetics Inc.
10. Abbott
11. Eurofins Scientific
12. Sorenson Genomics
13. BIO-HELIX Biocartis
14. Cepheid (A subsidiary of Danaher)

Recent key industry developments:

• In June 2022, the U.S. FDA initiated a 5-year strategy program for Rare Neurodegenerative Diseases to improve patient access to innovative treatments.
• In February 2022, Bionano Genomics launched the Rare Undiagnosed Genetic Disease (RUGD) initiative to enhance focus in clinical and translational research.
• In December 2021, Thermo Fisher Scientific Inc. acquired PPD, Inc., a global supplier of clinical research services.
• In June 2022, Avesthagen Ltd. formed a strategic partnership with Wipro Ltd. to popularize its genetic testing offerings.
• In November 2021, Genomenon and Alexion, AstraZeneca Rare Disease entered a strategic partnership to enhance accessibility to crucial information for the treatment and diagnosis of rare diseases.