US Genetic Testing Market: Size, Share, and Growth Forecast

The U.S. genetic testing market is rapidly evolving, driven by increasing awareness of personalized medicine, technological advancements, and growing demand for early disease detection. Valued at USD 4.11 billion in 2019, the market experienced a temporary slowdown in 2020 due to the COVID-19 pandemic, growing only by 6.7% that year. However, the long-term outlook remains strong. The market is projected to reach USD 10.29 billion by 2027, expanding at a compound annual growth rate (CAGR) of 13.0% during the forecast period (2020–2027). In 2025, major industry players are expanding their portfolio through partnerships, acquisitions, and innovative product launches, setting the stage for continued disruption in the healthcare landscape.

Introduction

Genetic testing is transforming the U.S. healthcare industry, enabling early detection of diseases, targeted treatment, and personalized health planning. The market’s strong growth is fueled by advancements in genomics, rising consumer awareness, and increasing adoption of direct-to-consumer (DTC) genetic tests.

Market Size & Growth Analysis

  • 2019 Market Value: USD 4.11 billion
  • 2020 Market Value: USD 4.38 billion
  • CAGR (2020–2027): 13.0%
  • Projected 2027 Market Value: USD 10.29 billion

The U.S. genetic testing market showed a temporary decline in growth rate during 2020 (6.7%) due to pandemic-related disruptions, including delayed elective procedures and reduced patient visits. However, this was a short-term deviation from the consistent 2016–2019 average growth.

From 2021 onwards, growth rebounded as the demand for genetic insights in oncology, prenatal testing, pharmacogenomics, and ancestry services surged.

Key Market Drivers

  1. Rise in Personalized Medicine

The increasing focus on personalized treatment plans is a significant driver. Genetic testing helps tailor medical treatment to the individual characteristics of each patient, enhancing treatment efficacy and reducing side effects.

  1. Technological Advancements

Next-generation sequencing (NGS), CRISPR, and AI-powered genomic analytics are revolutionizing genetic diagnostics, making tests faster, more affordable, and more accessible.

  1. Growing Consumer Awareness

The rise in health-consciousness and proactive healthcare behavior, especially among millennials and Gen Z, is boosting the adoption of direct-to-consumer genetic tests like ancestry and wellness panels.

  1. Expansion of Cancer and Rare Disease Testing

There is a growing reliance on genetic testing in oncology and rare disease diagnostics. Tests like BRCA1/BRCA2 for breast cancer and carrier screening for inherited disorders are becoming standard clinical practice.

Market Segmentation

By Type of Test

  • Predictive & Presymptomatic Testing
  • Carrier Testing
  • Prenatal & Newborn Testing
  • Diagnostic Testing
  • Pharmacogenomic Testing
  • Ancestry & Lifestyle Testing

By Technology

  • Next-Generation Sequencing (NGS)
  • Polymerase Chain Reaction (PCR)
  • Microarrays
  • Others

By Application

  • Oncology
  • Infectious Diseases
  • Cardiovascular Diseases
  • Neurological Disorders
  • Others

By End User

  • Hospitals & Clinics
  • Diagnostic Laboratories
  • Academic & Research Centers
  • Direct-to-Consumer (DTC) Providers

Recent Developments (2024–2025)

  • 23andMe launched a new pharmacogenetic panel helping users understand drug-gene interactions.
  • Illumina Inc. expanded its partnerships with healthcare providers to integrate whole-genome sequencing in routine care.
  • Myriad Genetics acquired select assets from Gateway Genomics to strengthen its prenatal screening business.
  • Color Genomics partnered with public health departments for large-scale population genetic screening.
  • Invitae announced an AI-powered tool to enhance diagnostic accuracy in hereditary cancer testing.

Key Players in the U.S. Genetic Testing Market (2025)

  1. Illumina, Inc.
  2. 23andMe Holding Co.
  3. Myriad Genetics, Inc.
  4. Fulgent Genetics, Inc.
  5. Invitae Corporation
  6. Color Health, Inc.
  7. Ambry Genetics
  8. GeneDx (a Sema4 Company)
  9. Thermo Fisher Scientific Inc.
  10. Laboratory Corporation of America Holdings (LabCorp)

These companies are driving innovation through mergers, acquisitions, and AI integration in genomic services.

Challenges in the Market

  • Regulatory Uncertainty: The FDA's evolving stance on DTC genetic tests can create entry barriers for new players.
  • Data Privacy Concerns: Consumer hesitancy around sharing genetic information persists.
  • High Testing Costs: Although prices are falling, advanced testing remains expensive for many.

Future Outlook

The U.S. genetic testing market is poised for robust growth, fueled by both clinical and consumer applications. With AI-driven data interpretation, real-time diagnostics, and integration into routine care, the genetic testing landscape is expected to become a core pillar of the future healthcare system.

The introduction of population-scale genetic testing programs and ongoing innovation by key players will further consolidate the U.S. as a global leader in genetic diagnostics.

📑 Explore the full research report with detailed insights and TOC:
https://www.fortunebusinessinsights.com/u-s-genetic-testing-market-105034

Conclusion

The U.S. genetic testing market is undergoing a transformative phase, driven by a strong blend of technological innovation, healthcare personalization, and consumer empowerment. With a projected market value of over USD 10 billion by 2027, the industry is on a steep upward trajectory, making it one of the most promising sectors in the biomedical domain.