Hereditary Testing Market Size, Share and Industry Analysis, By Type (Cancer Tests, Prenatal Screening Tests, Rare & Inherited Disease Screening Tests, Others), By Technology (Cytogenetic, Biochemical, and Molecular), By End User (Hospitals & Specialty Clinics, Diagnostic centers, and Others), and Regional Forecast, 2026-2034

The global hereditary testing market size was valued at USD 18.8 billion in 2025 and is projected to grow from USD 21.55 billion in 2026 to USD 64.38 billion by 2034, exhibiting a CAGR of 14.66% during the forecast period.

Hereditary testing is a medical test that detects genetic, chromosomal, or protein alterations, with an aim to confirm or rule out a specific genetic disease, and indicate a person’s risk of developing or passing on a genetic disorder. The main drivers for the hereditary testing market are the steady rise in demand for genetic testing and the rising focus on reproductive genetic health among the population worldwide. An increasing number of genetic screenings of newborns and prenatal is also helping to drive the market's revenue globally.

Moreover, an increase in the prevalence of inherited diseases, growing public awareness of the harmful implications of genetic diseases, new breakthroughs in genetic analysis, and the emergence of rare diseases are the key factors driving the hereditary testing market.

• For instance, in July 2022, according to a report by the International Journal of Neonatal Screening, about 15,000 newborns are evaluated annually in the U.S. for genetic and metabolic diseases.
• According to an article published by the National Academy of Science in January 2020, through computing genotype data from six significant world populations in 187 Inherited Retinal Disease (IRD)-associated genes, detected 10,044 mutations and estimated that 2.7 billion individuals worldwide are carriers of an IRD disease-causing mutation, whereas 5.5 million are expected to be affected.

Impact of COVID-19 on the Hereditary Testing Market

The COVID-19 pandemic negatively impacted the hereditary testing market in 2020 owing to the imposed lockdowns and the globally compelled social isolation by the World Health Organization (WHO). Moreover, the pandemic affected the number of genetic counselors to meet with clients in person, the unavailability of doctors to assist patients, and the laboratory’s inability to perform the tests. Further, as regulatory bodies such as the Centers for Medicaid Services (CMS) do not consider genetic counselors as healthcare practitioners, they were prohibited from working during government shutdowns.

• For instance, according to a research article published in the Journal of Medical Genetics 2020, a hindrance was reported due to COVID-19 in accessing genetic testing blood draws, as a result of which genetic testing was tremendously impacted, wherein a reduction in genetic testing from 97.7% to 74.1% was observed during the pandemic.

• In May 2020, according to the Centers for Disease Control and Prevention (CDC), most clinics and hospitals in the U.S. restricted in-person delivery of non-essential healthcare services, including genetic counseling, due to the unavailability of counselors for attending patients to minimize coronavirus transmission.

Key Insights

• Prevalence of Cancer, By Key Countries, 2021
• Impact of COVID-19 on Hereditary Testing Market
• New Product Launches
• Technological Advancements in Hereditary Testing
• Key Industry Developments Mergers, Acquisitions, and Collaborations

Analysis by Type

In 2021, the hereditary cancer testing segment accounts for a larger share of the global hereditary testing market. The growth is attributed to the increasing number of new products and services available for detecting hereditary cancer. Moreover, the rising focus of key companies on new technological developments and commercial strategies to strengthen their position in this field are likely to drive the segment growth.

• For instance, in March 2022, Illumina Inc., launched a cancer test in Europe that checks for a wide range of tumor genes in one tissue sample, potentially helping patients with rare diseases to be matched with treatment options.

Regional Analysis

Request for Customization   to gain extensive market insights.

North America accounts for a larger share of the global hereditary testing market due to the rising incidence of genetic disorders and increasing commercial acceptance of hereditary testing. Also, numerous key companies providing genetic disease testing, the widespread use of modern therapies, and changing regulations in the guidelines by the government to maintain the integrity of hereditary testing screening are likely to drive the regional growth of the market.

• According to the National Institutes of Health (NIH), more than 30.0 million individuals in the U.S. suffer from around 7,000 genetic disorders.

Key Players Covered

The report will include the profiles of key players such as Illumina, Inc., Genes2Me, Myriad Genetics, Inc., Natera, Inc., Quest Diagnostics Incorporated, CENTOGENE N.V., Thermo Fisher Scientific, Inc., Twist Bioscience, Fulgent Genetics, Inc., MedGenome, and others.

Segmentation

Key Industry Developments

• In December 2021, Helio Health and its commercial partner, Fulgent Genetics, Inc., announced the commercial launch of HelioLiver. This multi-analyte blood test incorporates cell-free DNA methylation patterns and serum protein markers for the early detection of hepatocellular carcinoma (HCC), the most common form of liver cancer.
• In November 2021, MedGenome Labs, a leading genetic diagnostics and research company, acquired Trident Diagnostics & Healthcare Pvt. Ltd., a diagnostics and radiology healthcare center based in Bengaluru, India. This partnership will help MedGenome make genetic testing accessible to clinicians, patients, and consumers across the country.
• In August 2021, Fulgent Genetics, Inc., a technology-based genetic testing company focused on transforming patient care in oncology, infectious and rare diseases, and reproductive health, announced its acquisition with CSI Laboratories to expand its presence in somatic molecular diagnostics and cancer testing.