Hereditary Testing Market - Strategic Insights and Forecasts (2026-2031)

The Hereditary Testing Market is set to reach USD 6.06 billion in 2031, growing at a CAGR of 8.3% between 2026 and 2031, from USD 4.07 billion in 2026.

Market Overview

The Hereditary Testing Market is anticipated to grow at a significant CAGR of 8.3% during the forecast period (2026–2031). Hereditary testing is the key to transforming population health care by incorporating genetic information into virtually every process from presymptomatic disease-risk assessment to early diagnosis, preventive health care, and personalized treatment decisions. Over the past few decades, hereditary testing has gained increasing acceptance for inherited cancer and rare genetic disorders, as well as carrier screening, reproductive health, and familial disease assessment.

Increased regulatory support for hereditary cancer prevention is fueling the demand for hereditary testing and counseling. Family-history assessment and germline testing are now an integral part of cancer-risk management that allows increased surveillance and preventive measures among those with inherited pathogenic variants. This has led the National Cancer Institute (NCI) to promote hereditary cancer syndromes as a clinically relevant area for genetic risk assessment.

• Cascade testing is creating new opportunities, as it refers to the identification of additional carriers or at-risk individuals in a family once an inherited pathogenic variant has been identified. By testing family relatives, those at risk of inheriting the same variant can be identified and thus become eligible for targeted follow-up or preventive approaches.

• CDC highlights that a carrier father or mother has a 50% chance of passing on a genetic change to each child, and two autosomal-recessive condition carriers have a 25% chance of an affected child, creating demand for genetic testing, carrier screening, and genetic counseling.

• Large-scale genomic studies are empowering assessment of hereditary diseases. The NIH reported in June 2026 that its All of Us Research Program had more than 883,000 participants enrolled, as data from more than 747,000 participants are accessible for researcher use, with more than 535,000 whole-genome sequences and close to 482,000 electronic health records. The scale of this dataset is providing insights into associations between genetic variants and health outcomes, as well as advancing the infrastructure supporting genomic medicine.

• As genomic sequencing expands, previously underrepresented genetic variation is being discovered, and this increases the demand for bioinformatics techniques, databases, and interpretation tools to ascertain whether variants are clinically relevant or incidental. This factor supports more comprehensive hereditary testing as opposed to simply narrowly targeted genetic analysis.

• The ongoing developments are leading to multigene panels and exome sequencing to include a growing number of genes causing disease, making it more efficient for patients with genetically heterogeneous disorders.

• Growing demand for genetic counselling is supporting the adoption of hereditary testing and advancement in more complex and professional clinical interpretation.

Market Drivers

World Health Organization (WHO) estimated that 6% of all births worldwide have a congenital disorder, contributing to major population cohorts requiring genetic assessment and long-term follow-up. Additionally, a WHO report from June 2026 indicated that around 8 million children are born with birth defects worldwide annually, which can have genetic or hereditary causes that contribute to the need for hereditary testing.

• In 2025, birth defects caused approximately 11% of the deaths under 5 years of age in countries in the WHO South-East Asia Region, compared to around 3.9% during the previous two decades, highlighting an increasing need for early identification and diagnosis.

• According to the National Institutes of Health (NIH), 25 to 30 million Americans are affected by rare diseases, with most diseases having a genetic basis, thus expanding the hereditary testing addressable population.

• Inheritable harmful genetic alterations lead to 5–10% of all cancers, according to the NIH, which is expected to contribute to an increased demand for hereditary cancer testing, as well as family risk assessment.

• Hereditary changes in the BRCA1 and BRCA2 genes are known to increase a person's risk for breast and ovarian cancers. The U.S. Centers for Disease Control and Prevention (CDC) has recognized these mutations as significant contributors to cancer risk. This highlights the critical role of genetic testing among people with pertinent personal or family histories of disease.

• CDC guidelines state that personal and family history with respect to cancer risk should be evaluated. Similarly, the 2026 Lynch syndrome guidance from the CDC emphasizes genetic testing in patients with colorectal or endometrial carcinoma and abnormal tumor-test status.

Major Segment Analysis

Hereditary Cancer Testing

By disease type, the hereditary testing market is segmented into hereditary cancer testing and non-hereditary cancer testing, of which the former is expected to show constant growth owing to the increasing global cancer prevalence.

Ongoing technological adoption in disease detection, followed by investment in new product development and testing platforms, has provided new growth prospects for hereditary testing. The hereditary cancer-testing segment is projected to grow at a steady rate fueled by continued efforts to bolster cancer detection and treatment.

• The progressive global burden of cancer, with annually reported cases reaching from the current 21.08 million in 2025 to 23.75 million by 2030 and 26.51 million by 2035 (WHO Projection), has escalated the requirement for early genetic testing to enable risk-reducing intervention, thereby simultaneously impacting market growth.

• Growing transition towards optimal treatment options for cancer is expected to positively impact hereditary testing, which provides faster turnaround. Hence, studies presented at the European Society of Human Genetics indicate the cost-benefit of early screening for inherited cancer.

• Continued development of next-generation sequencing (NGS) tests, which broaden testing coverage while maintaining high analytical performance, is supporting market development. Companies like Foundation Medicine Inc. have capitalized on this aspect through planned launches of hereditary germline cancer tests.

• Precision oncology and personalized medicine have expanded the scope for preventive treatment, with various campaigns implemented, such as BRCA awareness campaigns. Hence, this has increased interest in consumer-initiated options for cancer screening.

• Nearly 5% to 10% of cancers are caused by hereditary genetic mutations (According to the National Cancer Institute), owing to which proactive screening and testing demand is gaining traction. Additionally, governing authorities are also investing in various cancer screening programs, which is anticipated to provide new growth opportunities for NGS testing.

Regional Analysis

North America: the US

• The continued advancement in genetic testing, followed by collaborations between companies like Labcorp and the Alliance for Clinical Trials in Oncology to evaluate approaches for germline genetic testing, has supported the market outlook in the United States.

• Studies suggest nearly 10% of the US population has a rare disease, and according to the Centers for Disease Control (CDC), nearly 3% (1 in 33) babies are born with a birth defect in the USA. Strategic efforts undertaken to analyze and limit such prevalence are projected to improve market expansion.

• Over the years, cancer cases have also grown in the United States, which has accelerated the market requirement. According to the American Cancer Society, in 2026, the estimated number of new cancer cases in the USA will reach 2.11 million, representing nearly 3.5% growth over the preceding year’s recorded cases.

• Robust growth towards preventive and precision medicine in the United States to limit the economic burden of late-stage diagnosis. Likewise, government policies such as the “Clinical Laboratory Improvement Amendments (CLIA)” have advanced lab testing standards, thereby accelerating adoption.

• Ongoing innovations and product launches such as the recently launched Marker by Labcorp™ Genetic Health Panel have expanded consumers’ access to hereditary genetic risk testing in the United States. Likewise, companies like GeneDX have invested in new genetic testing programs, which have bolstered market trajectory.

Company Profiles

Labcorp’s strategy in the hereditary testing market centers on leveraging its scale, extensive clinical distribution network, and strategic acquisitions to dominate high-growth segments such as hereditary oncology, rare diseases, and reproductive health. Rather than relying solely on internal test development, Labcorp aggressively expands its proprietary genetic portfolio by acquiring leading medical genetics assets, integrating advanced next-generation sequencing (NGS) technologies, and pairing them with nationwide clinical laboratory infrastructure and digital patient portals.

Recent Developments

• July 2026: Labcorp launched Marker by Labcorp Genetic Health Panel, analyzing 163 genes linked to 100 medically actionable conditions, expanding consumer access to hereditary cancer, cardiovascular, and metabolic risk testing.

• February 2026: Illumina launched TruPath Genome, a whole-genome sequencing product designed to improve detection of rare genetic disease variants, including alterations difficult to resolve with conventional sequencing approaches in clinical research workflows.

• December 2025: Zydus signed an exclusive agreement with Myriad to introduce MyRisk, MyChoice HRD Plus, and Prolaris in India, expanding access to hereditary cancer-risk assessment and precision oncology diagnostics nationwide.

• November 2025: Myriad Genetics expanded MyRisk Hereditary Cancer Test by adding 15 clinically actionable genes, bringing its panel to 63 genes spanning more than 11 cancer types for broader risk assessment.

Hereditary Testing Market Scope: