Global Hereditary Genetic Testing Market: Focus on Product, Sample Type, Technology, Genetic Testing Type, Application Area, Region, and Competitive Landscape - Analysis and Forecast, 2024-2033

The global hereditary genetic testing market, initially valued at $24.78 billion in 2023, is poised for substantial growth, projected to surge to $81.95 billion by 2033, marking a remarkable compound annual growth rate (CAGR) of 12.73% over the period from 2024 to 2033. The market is witnessing double-digit growth, driven by continuous technological advancements. Innovations in genetic sequencing technologies, such as next-generation sequencing (NGS), have made genetic testing more accurate, efficient, and cost-effective. Increased awareness among the public and healthcare professionals about the benefits of genetic testing for diagnosing and managing hereditary conditions has led to higher demand. The rising prevalence of genetic disorders and hereditary cancers further fuels the need for early diagnosis and personalized treatment options. The expanding applications of genetic testing, including prenatal screening, newborn screening, oncology, and personalized medicine, are broadening the market scope. Regulatory support and favorable guidelines ensure the quality and reliability of genetic tests, facilitating market growth.

Market Introduction

The landscape of hereditary genetic testing is rapidly evolving, fuelled by strategic collaborations and innovative advancements in technology. Initiatives such as the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT) Collaboration, led by Konica Minolta, Inc. (Ambry Genetics), are pivotal in promoting access to hereditary cancer testing, while partnerships such as that between Quest Diagnostics Incorporated and Broad Clinical Labs are demonstrating the clinical utility of whole genome sequencing (WGS) for diagnosing developmental delay disorders post-birth. Moreover, strategic alliances such as the one between Konica Minolta, Inc. (Ambry Genetics) and Tempus are enhancing the provision of comprehensive germline and somatic testing services. These developments are complemented by product approvals and launches, such as Agilent Technologies, Inc.'s GenetiSure Dx Postnatal Assay and Laboratory Corporation of America Holdings' independent blood biomarker test for phosphorylated tau 217 (pTau217), each contributing to the expanding toolkit of genetic testing options. With acquisitions such as Myriad Genetics, Inc.'s acquisition of assets from Intermountain Precision Genomics, the industry is poised for sustained growth and innovation, promising improved healthcare outcomes through personalized genetic insights.

Industrial Impact

The global hereditary genetic testing market, propelled by companies such as Agilent Technologies, Ambry Genetics, Color, CENTOGENE N.V., Natera Inc., Myriad Genetics, Inc., and Illumina, Inc., has revolutionized the landscape of industrial genetics. By utilizing advanced technologies such as next-generation sequencing (NGS), polymerase chain reaction (PCR), and microarray, these companies offer a wide array of products catering to oncology genetic testing, neurology genetic testing, cardiology genetic testing, and rare disease testing, among others. These products range from tumor tissue-based tests such as SureMASTR Hereditary Cancer by Agilent Technologies to saliva-based tests such as those offered by Color. The impact of these advancements extends across research and clinical diagnostics, offering insights into hereditary factors contributing to various diseases such as cancer, cardiovascular disorders, neurological conditions, and rare genetic diseases. Through the integration of cutting-edge technologies and expansive disease coverage, the industrial impact of the global hereditary genetic testing market is profound, driving forward the frontiers of personalized medicine and genetic healthcare.

Market Segmentation:

Segmentation 1: by Product

• Kits and Consumables
• Services

Services Segment to Dominate the Hereditary Genetic Testing Market (by Product)

Based on product, the global hereditary genetic testing market was led by the services segment, which held a 69.33% share in 2023. This substantial market share indicates the high demand for services related to hereditary genetic testing, which includes genetic counseling, testing, and result interpretation. The prominence of the services segment highlights the importance of comprehensive support and expertise in genetic testing processes, ensuring accurate diagnosis and personalized healthcare solutions.

Segmentation 2: by Sample Type

• Tumor Tissue
• Bone Marrow
• Saliva
• Blood
• Other Sample Types

Blood Segment to Dominate the Hereditary Genetic Testing Market (by Sample Type)

Based on sample type, the global hereditary genetic testing market was led by the blood segment, which held a 41.79% share in 2023. This dominant market share underscores the preference for blood samples in hereditary genetic testing due to their reliability and ease of collection. Blood samples provide a rich source of DNA, which is essential for accurate and comprehensive genetic analysis. The prominence of the blood segment reflects the established protocols and widespread acceptance of blood-based testing in clinical and research settings. This trend highlights the crucial role of blood samples in facilitating precise diagnosis and management of hereditary conditions, ultimately contributing to improved patient care and outcomes.

Segmentation 3: by Technology

• Next-Generation Sequencing (NGS)
• Polymerase Chain Reaction (PCR)
• Immunohistochemistry (IHC)
• In-Situ Hybridization (ISH)
• Microarray Techniques
• Other Technologies

Next-Generation Sequencing Segment to Dominate the Hereditary Genetic Testing Market (by Technology)

Based on technology, the global hereditary genetic testing market was led by the next-generation sequencing segment, which held a 32.08% share in 2023. This significant market share highlights the advanced capabilities and growing adoption of NGS technology in hereditary genetic testing. NGS offers high-throughput sequencing, enabling the rapid and comprehensive analysis of multiple genes simultaneously, which is crucial for identifying a wide range of genetic mutations associated with hereditary conditions. The prominence of the NGS segment reflects its efficiency, accuracy, and cost-effectiveness, making it the preferred choice for both clinical diagnostics and research applications. This trend underscores the transformative impact of NGS on the genetic testing landscape, driving innovations and improving the detection and management of hereditary diseases.

Segmentation 4: by Oncology Genetic Testing Type

• Breast Cancer
• Lung Cancer
• Prostate Cancer
• Colorectal Cancer
• Melanoma
• Other Oncology Hereditary Genetic Testing

Breast Cancer Segment to Dominate the Hereditary Genetic Testing Market (by Oncology Genetic Testing Type)

Based on oncology genetic testing type, the global hereditary genetic testing market was led by the breast cancer segment, which held a 41.97% share in 2023. This significant market share underscores the high demand for genetic testing for breast cancer, reflecting the critical importance of early detection and risk assessment in managing this prevalent condition. Genetic testing for breast cancer, particularly for BRCA1 and BRCA2 mutations, plays a crucial role in identifying individuals at higher risk, enabling preventive measures and personalized treatment strategies.

Segmentation 5: by Cardiology Genetic Testing Type

• Cardiomyopathy
• Aortopathy
• Arrhythmia
• Other Cardiology Hereditary Genetic Testing

Cardiomyopathy Segment to Dominate the Hereditary Genetic Testing Market (by Cardiology Genetic Testing Type)

Based on cardiology genetic testing type, the global hereditary genetic testing market was led by the cardiomyopathy segment, which held a 33.47% share in 2023. This substantial market share underscores the growing recognition of the importance of genetic testing in diagnosing and managing cardiomyopathies, which are often hereditary and can lead to severe cardiac conditions if not detected early. Genetic testing for cardiomyopathies helps identify specific genetic mutations that cause various forms of the disease, facilitating early intervention, personalized treatment plans, and better management of at-risk individuals.

Segmentation 6: by Neurology Genetic Testing Type

• Epilepsy
• Neurodegenerative Disorders
• Neuromuscular Disorders
• Other Neurology Hereditary Genetic Testing

Epilepsy Segment to Dominate the Hereditary Genetic Testing Market (by Neurology Genetic Testing Type)

Based on neurology genetic testing type, the global hereditary genetic testing market was led by the epilepsy segment, which held a 35.55% share in 2023. This significant market share highlights the critical role of genetic testing in diagnosing and managing epilepsy, a neurological disorder with various hereditary forms. Genetic testing for epilepsy helps identify specific genetic mutations that can influence the condition, enabling more accurate diagnoses and the development of personalized treatment plans. The dominance of the epilepsy segment reflects the growing importance of genetic insights in understanding the underlying causes of epilepsy, leading to improved patient care and outcomes.

Segmentation 7: by Other Genetic Testing Type

• Newborn Screening
• Prenatal Screening (NIPT) and Preimplantation Testing
• Rare Disease Testing
• Direct-to-Consumer Testing

Rare Disease Testing Segment to Dominate the Hereditary Genetic Testing Market (by Other Genetic Testing Type)

Based on other genetic testing type, the global hereditary genetic testing market was led by the rare disease testing segment, which held a 39.13% share in 2023. This substantial market share highlights the crucial role of genetic testing in diagnosing rare diseases, which often have a hereditary component. Genetic tests for rare diseases are essential for identifying specific mutations that may not be well understood or easily diagnosed through traditional methods. The dominance of the rare disease testing segment reflects the growing awareness and need for precise diagnostic tools to manage and treat these conditions effectively.

Segmentation 8: by Application Area

• Academic and Research
• Clinical Diagnostics, Monitoring and Screening
• Drug Discovery

Clinical Diagnostics Segment to Dominate the Hereditary Genetic Testing Market (by Application Area)

Based on application area, the global hereditary genetic testing market was led by the clinical diagnostics segment, which held a 40.99% share in 2023. This substantial market share highlights the crucial role of clinical diagnostics in hereditary genetic testing, emphasizing the importance of accurate and early detection of genetic conditions for effective medical intervention. The dominance of the clinical diagnostics segment reflects the growing reliance on genetic tests to guide clinical decisions and personalize treatment plans, ultimately improving patient outcomes. This trend underscores the significance of integrating advanced genetic diagnostics into routine clinical practice to address the rising prevalence of hereditary disorders and enhance healthcare delivery.

Segmentation 9: by Region

• North America: U.S.,and Canada
• Europe: Germany, U.K., France, Spain, Netherlands, and Rest-of-Europe
• Asia-Pacific: Japan, India, China, Singapore, Australia, and Rest-of-Asia-Pacific
• Latin America: Brazil, Mexico, and Rest-of-Latin America
• Middle East and Africa

The hereditary genetic testing market in the North America region is expected to witness a significant growth rate of 11.41% during the forecast period. This notable growth can be attributed to several key factors. Continuous advancements in genetic testing technologies are enhancing the accuracy and accessibility of hereditary genetic tests, driving market expansion. Growing awareness about the importance of genetic testing for early diagnosis and management of inherited conditions is leading to higher adoption rates among healthcare providers and patients. Supportive government policies and funding for genetic research and testing are fostering a conducive environment for market growth in the region. However, the Asia-Pacific region is expected to reach $21.97 billion in 2033 from $5.36 billion in 2023, at a CAGR of 15.18% during the forecast period 2024-2033.

Recent Developments in the Hereditary Genetic Testing Market

• In April 2024, Agilent Technologies, Inc. received Class C Certification under the European Union In Vitro Diagnostic Regulation (IVDR) for its GenetiSure Dx Postnatal Assay. The GenetiSure Dx Postnatal Assay device helps clinical geneticists detect genetic anomalies earlier and more accurately than traditional methods.
• In April 2024, Konica Minolta, Inc. (Ambry Genetics) initiated the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT) Collaboration with the aim of promoting hereditary cancer testing. The coalition's objective is to enhance access to genetic testing for individuals affected by or at risk of hereditary cancers. Additionally, the coalition endeavors to influence medical professionals and industry guidelines pertaining to such testing.
• In April 2024, Quest Diagnostics Incorporated and Broad Clinical Labs revealed a research partnership aimed at showcasing the clinical utility of whole genome sequencing (WGS) as the primary genetic test for diagnosing developmental delay disorders after birth. The collaboration aims to illustrate that WGS can offer insights obtained from a single blood test that is at least as clinically precise as the multiple conventional tests typically employed by healthcare providers to diagnose patients.
• In January 2024, Myriad Genetics, Inc. disclosed its definitive agreement to acquire specific assets from the Intermountain Precision Genomics (IPG) laboratory division. These assets include the Precise Tumor Test, the Precise Liquid Test, and IPG's CLIA-certified laboratory located in St. George, Utah, where the Precise Tumor Test is presently conducted.
• In January 2024, Natera, Inc. disclosed the acquisition of specific assets about Invitae's non-invasive prenatal screening and carrier screening business. Natera, Inc. has already provided an initial payment of $10 million, with an additional $42.5 million pending, to be disbursed in cash, milestone payments, and litigation credits. The reproductive health portfolio comprises genetic tests offering non-invasive prenatal screening and carrier screening.

Demand - Drivers, Challenges, and Opportunities

Market Drivers:

Rising Prevalence of Genetic Disorders along with Rare Diseases: Genetic diseases stem from abnormalities within an individual's DNA. They can arise through inheritance from one or both parents or manifest due to spontaneous genetic mutations. These conditions may result from a mutation in a single gene (monogenic), a chromosomal alteration involving an abnormal number of copies, or complex disorders influenced by the combined effects of multiple genes (polygenic). Next-generation sequencing techniques are widely used for the diagnosis of genetic diseases. Increasing widespread use of NGS in diagnostic laboratories has enhanced the accuracy of genetic diagnostics with high consistency.

Market Challenges:

Privacy and Ethical Concerns Due to Increased Risk of Security Breaches: Privacy and ethical concerns have become significant challenges in the hereditary genetic testing market, especially with the increasing risk of security breaches. As genetic data contain detailed personal information, they have become a prime target for cyberattacks. The implications of such breaches are profound, considering the sensitivity of genetic information, which can reveal predispositions to certain diseases and other personal attributes.

Market Opportunities:

Rise of Direct-to-Consumer (DTC) Testing Services: The increasing number of direct-to-consumer (DTC) hereditary genetic tests is set to significantly influence the global hereditary genetic testing market. As defined by the U.S. FDA, DTC tests allow consumers to bypass traditional healthcare systems by sending specimens directly to testing companies. This accessibility is appealing as it eliminates many of the barriers associated with traditional genetic testing, such as the need for a healthcare provider's referral, potentially lengthy wait times, and sometimes prohibitive costs. Companies such as 23andMe have pioneered this approach, becoming the first to obtain FDA approval for such tests, signaling a robust regulatory framework that supports consumer safety while encouraging innovation.

How can this report add value to an organization?

Product/Innovation Strategy: The global hereditary genetic testing market has been extensively segmented based on various categories, such as technology, product, sample type, application area, and region. This can help readers get a clear overview of which segments account for the largest share and which ones are well-positioned to grow in the coming years. 

Growth/Marketing Strategy: Partnerships, alliances, and collaborations accounted for the maximum number of key developments, i.e., nearly 37.14% of the total developments in the global hereditary genetic testing market were between January 2020 and April 2024.

Competitive Strategy: The global hereditary genetic testing market has numerous established players with product portfolios. Key players in the global hereditary genetic testing market analyzed and profiled in the study involve established players offering products for hereditary genetic testing.

Methodology

Key Considerations and Assumptions in Market Engineering and Validation

• The base year considered for the calculation of the market size is 2023. A historical year analysis has been done for the period FY2019-FY2021. The market size has been estimated for FY2024 and projected for the period FY2024-FY2033.
• The scope of this report has been carefully derived based on interactions with experts in different companies across the world. This report provides a market study of upstream and downstream products of hereditary genetic testing.
• The market contribution of hereditary genetic testing is anticipated to be launched in the future and has been calculated based on the historical analysis of the solutions.
• Revenues of the companies have been referenced from their annual reports for FY2022 and FY2023. For private companies, revenues have been estimated based on factors such as inputs obtained from primary research, funding history, market collaborations, and operational history.
• The market has been mapped based on the available hereditary genetic testing solutions. All the key companies with significant offerings in this field have been considered and profiled in this report.

Primary Research:

The primary sources involve industry experts in hereditary genetic testing, including the market players offering products and services. Resources such as CEOs, vice presidents, marketing directors, and technology and innovation directors have been interviewed to obtain and verify both qualitative and quantitative aspects of this research study.

The key data points taken from the primary sources include:

• Validation and triangulation of all the numbers and graphs
• Validation of the report’s segmentation and key qualitative findings
• Understanding the competitive landscape and business model
• Current and proposed production values of a product by market players
• Validation of the numbers of the different segments of the market in focus
• Percentage split of individual markets for regional analysis

Secondary Research

Open Sources

• Certified publications, articles from recognized authors, white papers, directories, and major databases, among others
• Annual reports, SEC filings, and investor presentations of the leading market players
• Company websites and detailed study of their product portfolio
• Gold standard magazines, journals, white papers, press releases, and news articles
• Paid databases

The key data points taken from the secondary sources include:

• Segmentations and percentage shares
• Data for market value
• Key industry trends of the top players of the market
• Qualitative insights into various aspects of the market, key trends, and emerging areas of innovation
• Quantitative data for mathematical and statistical calculations

Key Market Players and Competition Synopsis

The companies that are profiled have been selected based on inputs gathered from primary experts and analyzing company coverage, product portfolio, and market penetration.

Some prominent names established in this market are:

• Agilent Technologies, Inc.
• BGI Group (Beijing Genomics Institute (BGI))
• Centogene AG
• Eurofins Scientific SE
• F. Hoffmann-La Roche Ltd
• Illumina, Inc.
• Konica Minolta, Inc. (Ambry Genetics)
• Laboratory Corporation of America Holdings
• Myriad Genetics, Inc.
• Revvity, Inc. (PerkinElmer, Inc.)
• Quest Diagnostics Incorporated
• Thermo Fisher Scientific Inc.

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