PUBLISHER: AnalystView Market Insights | PRODUCT CODE: 1927725
PUBLISHER: AnalystView Market Insights | PRODUCT CODE: 1927725
The Hereditary Testing Market size was valued at US$16,110.20 Million in 2024, expanding at a CAGR of 14.01% from 2025 to 2032.
The global hereditary testing market is witnessing significant growth due to the rising prevalence of genetic disorders, increased public awareness, and advancements in testing technologies. Hereditary testing plays an essential role in assessing genetic risks and is widely utilized for prenatal screening, cancer susceptibility testing, and carrier screening. The integration of next-generation sequencing technologies and the expansion of access to genetic testing services are key factors driving market growth across both developed and emerging regions.
Hereditary Testing Market- Market Dynamics
Rising prevalence of genetic disorders
The rising prevalence of hereditary conditions such as cystic fibrosis, sickle cell disease, and various inherited cancers is a key driver of the hereditary testing market, as regular genetic screening and monitoring are essential for effective disease management, risk assessment, and patient counselling. Advancements in multi-gene panel testing have significantly improved diagnostic accuracy, efficiency, and clinical relevance, supporting broader adoption in routine care. Growing awareness among healthcare professionals and patients about the role of genetic testing in personalised medicine is further accelerating demand. For instance, in November 2024, CeGaT GmbH launched the enhanced ExomeXtra v6 exome enrichment product, offering expanded coverage of non-coding splice regions and copy number variations (CNVs) to enable more precise diagnostics for hereditary conditions, including tumour syndromes. Additionally, continuous innovations in laboratory automation, digital health platforms, and telemedicine are improving accessibility and turnaround times, reinforcing sustained market growth and technological advancement.
The Global Hereditary Testing Market is segmented based on Disease Type, Technology, End User, and Region.
Based on Disease Type, the market is segmented into Cystic Fibrosis, Sickle Cell Disease, Hemophilia, and Other Genetic Disorders. Cystic fibrosis and sickle cell disease testing account for significant shares due to their high prevalence and the increasing demand for early diagnosis and management. The availability of established screening programs and growing awareness of inherited disorders further support market growth. Additionally, early intervention strategies and newborn screening initiatives contribute to higher testing rates.
Based on Technology, the market is categorised into Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Microarray, and Others. Next-generation sequencing dominates this segment, driven by advancements that offer high accuracy and efficiency in genetic testing. Its ability to analyse multiple genes simultaneously reduces turnaround time and cost per test. Expanding clinical applications and declining sequencing costs further strengthen NGS adoption.
Based on End User, the market is segmented into Hospitals, Diagnostic Laboratories, Genetic Testing Centres, and Others. Hospitals and diagnostic laboratories hold the largest share, as they facilitate high volumes of testing and support patient management through comprehensive genetic services. The presence of multidisciplinary care teams and advanced diagnostic infrastructure enhances their role in genetic disease diagnosis and monitoring.
Hereditary Testing Market- Geographical Insights
North America leads the hereditary testing market, driven by its advanced healthcare infrastructure and high adoption rates of genetic testing. This region benefits from ongoing research initiatives and favourable reimbursement policies. Europe follows closely, supported by strong public health systems and increasing awareness of genetic disorders. The Asia-Pacific region is expected to experience the fastest growth, fueled by rising healthcare expenditures, increased public awareness, and developments in genetic testing technology. Countries in Latin America and the Middle East & Africa are displaying steady growth due to gradual improvements in healthcare access and growing demand for genetic testing services.
Hereditary Testing Market- Country Insights
The United States holds a dominant position in the hereditary testing market, primarily due to high testing volumes, advanced diagnostics, and the presence of leading genetic testing companies. In Europe, countries like Germany, the UK, and France significantly contribute to market growth, supported by well-established healthcare systems promoting regular genetic testing. In Asia, China and India are rapidly emerging as high-growth markets, driven by large populations, increasing awareness of genetic health issues, and expanding healthcare infrastructure. This landscape enhances the accessibility and availability of hereditary testing solutions, driving overall market demand.
The hereditary testing market is moderately competitive, featuring key players such as Illumina, Thermo Fisher Scientific, Quest Diagnostics, Invitae Corporation, Agilent Technologies, Myriad Genetics, GeneDx, Fulgent Genetics, ArcherDX, and BGI Group. These companies focus on assay innovation, automation, and expanding their test portfolios to meet growing healthcare demands. Significant investments in next-generation sequencing technologies, streamlined workflows, and integrated solutions are enhancing accuracy and efficiency. Strategic partnerships and geographic expansion are key strategies that enable participants to strengthen their market positions in response to the increasing demand for hereditary testing services, for instance, February 2025: Fulgent Genetics, Inc. partnered with Foundation Medicine, Inc. to introduce two hereditary germline tests FoundationOne Germline and FoundationOne Germline More in the U.S., leveraging Fulgent's advanced technology platform to enhance comprehensive genetic testing capabilities.
In November 2024, CeGaT GmbH launched version 6 (v6) of its proprietary ExomeXtra exome enrichment product, enhancing coverage of non-coding splice regions and copy number variations (CNVs). This upgrade supports improved diagnostic accuracy, particularly for hereditary tumour syndromes, by enabling the detection of a broader spectrum of genetic alterations, including rare and complex variants that were previously challenging to identify.
In October 2023 a rural hospital system in North Carolina, in collaboration with Invitae, implemented universal hereditary testing for all breast cancer patients. The initiative achieved a 91.4% testing uptake and identified pathogenic germline variants in 13% of tested patients, leading to changes in clinical management for nearly 70% of cases. This program highlights the effectiveness of integrating hereditary testing into diverse healthcare settings, enhancing patient outcomes while optimising the use of healthcare resources.