Global Genetic Disease Testing Market Growth (Status and Outlook) 2025-2031

The global Genetic Disease Testing market size is predicted to grow from US$ 1044 million in 2025 to US$ 2056 million in 2031; it is expected to grow at a CAGR of 12.0% from 2025 to 2031.

Genetic disease testing, also known as genetic testing, involves analyzing chromosomes, genes, or proteins to identify changes that may lead to genetic disorders. This testing can confirm or rule out suspected genetic conditions or assess the risk of developing or passing on genetic disorders.

Market Development Overview:

In recent years, the genetic disease testing market has seen substantial growth due to advances in genomics, increased awareness of genetic diseases, and growing demand for personalized medicine. The global genetic disease testing market was valued at billions of dollars in 2023 and is expected to expand at a significant compound annual growth rate (CAGR) in the coming years. Factors driving this growth include technological advances in next-generation sequencing (NGS), declining costs of genetic testing, and expanding applications in oncology, rare disease diagnosis, and reproductive health. Governments and healthcare organizations around the world are actively promoting genetic screening programs, further driving market expansion. Direct-to-consumer (DTC) genetic testing is also becoming increasingly popular, with companies offering home testing kits for health risk assessment and ancestry tracing. The market is expected to maintain steady growth as regulators create clearer guidelines for genetic testing services.

Market Development Opportunities:

Next-generation sequencing (NGS) and CRISPR gene editing technologies are revolutionizing genetic testing, enabling faster, more accurate, and more cost-effective diagnoses. The reduction in the cost of whole genome sequencing makes genetic testing more accessible to a wider range of people. As healthcare shifts toward personalized treatment plans, genetic testing is becoming an important tool to tailor treatments to patients’ genetic profiles. Precision oncology in particular benefits from genetic insights that enable targeted cancer treatments. Many rare genetic diseases remain undiagnosed due to the complexity of traditional diagnostic methods. Advances in genetic testing are improving early detection and management of these diseases, creating new market opportunities. With consumers’ growing interest in health and ancestry, demand for direct-to-consumer genetic testing companies has surged. Companies are also developing AI-driven analytics to provide more personalized insights from genetic data.

Market Risks and Challenges:

Genetic testing raises ethical questions about data privacy, consent, and potential misuse of genetic information. Governments are implementing stricter regulations, which could impact market growth if compliance costs increase. As genetic testing companies collect large amounts of sensitive personal data, the risk of data breaches and misuse continues to increase. Ensuring secure storage and ethical use of genetic data is a key concern for industry stakeholders. Despite declining sequencing costs, genetic testing remains expensive in many regions, limiting accessibility to low-income populations. Insurance coverage for genetic testing also varies, impacting adoption rates. Without appropriate genetic counseling, consumers and patients may misinterpret test results, leading to unnecessary anxiety or inappropriate medical decisions. Expanding access to genetic counseling services is critical to mitigating this risk.

LPI (LP Information)' newest research report, the “Genetic Disease Testing Industry Forecast” looks at past sales and reviews total world Genetic Disease Testing sales in 2024, providing a comprehensive analysis by region and market sector of projected Genetic Disease Testing sales for 2025 through 2031. With Genetic Disease Testing sales broken down by region, market sector and sub-sector, this report provides a detailed analysis in US$ millions of the world Genetic Disease Testing industry.

This Insight Report provides a comprehensive analysis of the global Genetic Disease Testing landscape and highlights key trends related to product segmentation, company formation, revenue, and market share, latest development, and M&A activity. This report also analyses the strategies of leading global companies with a focus on Genetic Disease Testing portfolios and capabilities, market entry strategies, market positions, and geographic footprints, to better understand these firms’ unique position in an accelerating global Genetic Disease Testing market.

This Insight Report evaluates the key market trends, drivers, and affecting factors shaping the global outlook for Genetic Disease Testing and breaks down the forecast by Type, by Application, geography, and market size to highlight emerging pockets of opportunity. With a transparent methodology based on hundreds of bottom-up qualitative and quantitative market inputs, this study forecast offers a highly nuanced view of the current state and future trajectory in the global Genetic Disease Testing.

This report presents a comprehensive overview, market shares, and growth opportunities of Genetic Disease Testing market by product type, application, key players and key regions and countries.

Segmentation by Type:
Direct Genetic Testing
Indirect Genetic Testing

Segmentation by Application:
Carrier Testing
Prenatal Testing
Newborn Screening
Others

This report also splits the market by region:
Americas
United States
Canada
Mexico
Brazil
APAC
China
Japan
Korea
Southeast Asia
India
Australia
Europe
Germany
France
UK
Italy
Russia
Middle East & Africa
Egypt
South Africa
Israel
Turkey
GCC Countries

The below companies that are profiled have been selected based on inputs gathered from primary experts and analyzing the company's coverage, product portfolio, its market penetration.
Invitae
Ambry Genetics
Exact Sciences
Qiagen
Tempus
23andme
Veritas Genetics
Myriad Genetics
LabCorp
Blueprint Genetics
Illumina
CENTOGENE
GeneDx
Fulgent Genetics
BGI Genomics

Please note: The report will take approximately 2 business days to prepare and deliver.