Hereditary Testing Market - Global Industry Size, Share, Trends, Opportunity, and Forecast, Segmented By Disease Type (Hereditary Cancer Testing, Hereditary Non-cancer Testing), By Technology (Cytogenetic, Biochemical, Molecular Testing), By Region and Competition, 2020-2030F

Market Overview

Global Hereditary Testing Market has valued at USD 6.54 billion in 2024 and is expected to reach USD 10.26 billion by 2030 with a CAGR of 7.79% during the forecast period. The global hereditary testing market has witnessed remarkable growth in recent years, revolutionizing the way we understand and manage genetic health. As advances in genomics and biotechnology continue to accelerate, hereditary testing has become an indispensable tool in diagnosing, treating, and preventing a wide range of genetic conditions.

Hereditary testing, also known as genetic testing or DNA testing, involves the analysis of an individual's DNA to identify changes or mutations that may be associated with inherited diseases or conditions. Hereditary testing can help diagnose genetic disorders, such as cystic fibrosis, Huntington's disease, and certain types of cancer. Early diagnosis allows for better disease management and personalized treatment plans. Individuals can determine if they carry gene mutations that could be passed on to their offspring, enabling informed family planning decisions. Genetic testing can identify how an individual's genes may influence their response to specific medications, helping healthcare providers prescribe the most effective and safe treatments. Many people use hereditary testing to trace their ancestry and learn more about their genetic heritage.

The demand for genetic testing has seen a notable rise, leading to increased purchases of DNA screening kits. For instance, in November 2019, the Virginia Department of General Services Division of Integrated Laboratory Facilities screened 7,867 newborns for more than 31 genetic and metabolic conditions. Globally, the growing adoption of newborn screening programs is playing a key role in driving market growth. Additionally, the use of multigene panel screening in clinical settings for hereditary disorders has expanded, largely due to advancements in genetic testing methodologies. Government-led initiatives are further propelling market development. A prime example is the announcement made in March 2023 by the Netherlands' Ministry of Health, Welfare, and Sport, which declared that non-invasive prenatal testing (NIPT) would be made available to all pregnant women starting April 1, 2023. This forward-thinking policy is expected to significantly accelerate market growth by enhancing accessibility and early detection capabilities.

Advances in DNA sequencing technologies, such as next-generation sequencing (NGS), have made genetic testing more accessible and affordable, expanding its use in healthcare. Growing awareness of genetic diseases and their hereditary nature has led to increased demand for testing, especially among at-risk populations. Hereditary testing plays a crucial role in the development of personalized medicine, tailoring treatments to an individual's genetic profile for better outcomes. Direct-to-consumer genetic testing services, offered by companies like 23andMe and AncestryDNA, have made genetic testing accessible to the general public, driving market growth. Government regulations and guidelines have helped ensure the quality and accuracy of genetic testing services, boosting consumer confidence.

Key Market Drivers

Increasing Prevalence of Genetic Disorders is Driving Global Hereditary Testing Market

Advancements in the field of genetics have revolutionized healthcare, enabling early diagnosis and personalized treatment for a range of diseases. One crucial aspect of this progress is hereditary testing, which plays a pivotal role in identifying genetic disorders and assessing an individual's risk factors. The global hereditary testing market is witnessing remarkable growth due to the increasing prevalence of genetic disorders.

The prevalence of genetic disorders has been on the rise, prompting an increased demand for hereditary testing. Several factors contribute to this growing prevalence. As the global population ages, the risk of genetic disorders increases. Many genetic conditions are more likely to manifest as individuals get older, necessitating early detection and intervention. Ongoing research has led to the discovery of new genetic markers and associations with diseases. This expanded knowledge has prompted healthcare providers to recommend hereditary testing for a wider range of conditions. Couples planning to have children are increasingly opting for carrier testing to determine if they carry genetic mutations that could be passed on to their offspring. This proactive approach helps in making informed reproductive decisions. Hereditary testing is being utilized to assess an individual's susceptibility to hereditary cancers such as breast, ovarian, and colon cancer. This empowers individuals to take preventive measures and undergo more frequent screenings.

Rising Awareness and Demand for Personalized Medicine is Driving Global Hereditary Testing Market

In recent years, the field of healthcare has witnessed a remarkable transformation with the advent of personalized medicine. This innovative approach tailors medical treatments to the individual characteristics of each patient, considering their genetic makeup, lifestyle, and environmental factors. Hereditary testing, a critical component of personalized medicine, has gained significant prominence as it provides invaluable insights into an individual's genetic predisposition to diseases. The growing awareness of personalized medicine's benefits and the demand for tailored healthcare solutions have fueled the rapid expansion of the global hereditary testing market. Increased awareness of personalized medicine's potential to revolutionize healthcare has led to a surge in demand for hereditary testing. Patients and healthcare providers alike are becoming more conscious of the importance of tailoring medical interventions to an individual's genetic makeup, resulting in a higher adoption rate for genetic testing services. Ongoing advancements in genomic research have expanded our understanding of the genetic basis of various diseases, including cancer, cardiovascular disorders, and neurodegenerative conditions. As researchers uncover more genetic markers associated with these diseases, the demand for hereditary testing to assess an individual's risk escalates. For instance, in February 2023, MedGenome launched its genetic test used for the diagnosis of Facioscapulohumeral Muscular Dystrophy in India. Furthermore, the expanding product portfolio is indicative of growing competition in the market. Each company is making focused efforts to offer products with a competitive advantage. For instance, in June 2021, Illumina and Next Generation Genomic partnered to launch VeriSeq™ NIPT Solution in Thailand. 

The shift towards preventive healthcare is another driving force behind the increasing demand for hereditary testing. Many individuals are now proactively seeking genetic testing to identify potential health risks early on, allowing them to make lifestyle modifications or seek appropriate medical interventions to mitigate those risks. Hereditary testing plays a crucial role in family planning and reproductive health. Couples who carry a genetic predisposition to certain inherited diseases can use genetic testing to assess their risk of passing these conditions to their children. This knowledge enables them to make informed decisions about family planning, such as considering options like in vitro fertilization (IVF) with preimplantation genetic diagnosis (PGD). The pharmaceutical and biotech industries are increasingly utilizing genetic information to develop targeted therapies and drugs. This has led to a greater need for hereditary testing to identify suitable candidates for these precision medicines, further driving market growth.

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Key Market Challenges

Ethical and Privacy Concerns

One of the most prominent challenges in the hereditary testing market revolves around the ethical and privacy concerns associated with the collection, storage, and sharing of genetic data. Genetic information is intensely personal, and individuals are often apprehensive about how their data will be used. Concerns over data breaches, misuse of genetic information, and the potential for discrimination by insurers or employers have led to a growing demand for stringent data protection regulations.

Accessibility and Affordability

While the cost of genetic testing has significantly decreased over the years, it remains a barrier for many individuals and communities. Access to genetic testing is not universal, and disparities in healthcare infrastructure can leave marginalized populations at a disadvantage. Ensuring equitable access to hereditary testing is a pressing challenge that the industry must address.

Lack of Genetic Counselors

The interpretation of genetic test results is a complex process that often requires the expertise of genetic counselors. However, there is a shortage of genetic counselors, particularly in some regions, which can result in delayed or inaccurate interpretation of results. The industry needs to invest in training and expanding the genetic counseling workforce to meet the growing demand for their services.

Clinical Utility and Interpretation

The clinical utility of genetic testing is a critical concern. While advancements in genomics have led to the discovery of numerous genetic variants associated with diseases, the functional significance of many of these variants remains unclear. Clinicians may struggle to interpret results and determine their clinical relevance, which can impact the quality of patient care.

Regulation and Standardization

The hereditary testing market is a rapidly evolving field, and regulatory bodies worldwide are working to establish guidelines and standards for genetic testing. Achieving harmonization and consensus in this dynamic environment can be challenging. Companies operating in this space must navigate a complex web of regulations, which can vary significantly from one region to another.

Data Management and Storage

The sheer volume of genetic data generated by the industry presents a significant challenge in terms of data management and storage. Genetic information must be stored securely, and providers must have robust systems in place to manage and protect this sensitive data. Moreover, as more individuals undergo genetic testing, the demand for efficient data storage solutions continues to grow.

Informed Consent and Genetic Literacy

Obtaining informed consent for genetic testing is crucial, but ensuring individuals fully understand the implications of genetic testing can be challenging. Genetic literacy, both among healthcare professionals and the general public, remains a hurdle. Effective communication and education efforts are necessary to address this issue.

Key Market Trends

Technological Advancements

In an era marked by incredible technological advancements, the healthcare industry is undergoing a significant transformation. One area that has seen remarkable progress is hereditary testing, a field that has witnessed unprecedented growth due to the integration of cutting-edge technologies. The global hereditary testing market is expanding at a rapid pace, and it shows no signs of slowing down.

The development of Next-Generation Sequencing (NGS) technologies has been a game-changer in hereditary testing. NGS allows for the rapid and cost-effective sequencing of an individual's entire genome or specific genetic regions. This has expanded the scope of genetic testing, enabling the detection of rare genetic mutations and providing more comprehensive insights into an individual's genetic predispositions. The influx of big data and advanced bioinformatics tools has revolutionized the interpretation of genetic information. Researchers and healthcare providers can now analyze vast datasets to identify patterns, correlations, and potential disease markers, leading to more accurate diagnoses and treatment strategies. The revolutionary CRISPR-Cas9 gene-editing technology has not only transformed genetic research but also holds the promise of correcting genetic defects. This has profound implications for hereditary testing, as it may enable the development of gene therapies tailored to an individual's specific genetic mutations. The rise of direct-to-consumer (DTC) genetic testing companies has made hereditary testing more accessible to the general public. These companies offer DNA testing kits that individuals can use at home to learn about their ancestry, health risks, and genetic traits. This accessibility has fueled the growth of the consumer genetics market. Advances in telemedicine and remote genetic counseling have made it easier for individuals to access genetic testing services and receive expert guidance from genetic counselors without the need for in-person appointments. This has broadened the reach of hereditary testing services.

Segmental Insights

Technology  Insights

Based on Technology, the molecular testing segment held the largest market share. Molecular testing techniques, such as DNA sequencing, PCR (Polymerase Chain Reaction), and SNP (Single Nucleotide Polymorphism) analysis, offer high precision and accuracy in identifying genetic variations and mutations associated with hereditary diseases. This precision is crucial when it comes to diagnosing and predicting the risk of genetic disorders. Molecular testing allows for comprehensive analysis of an individual's genetic material. This includes the examination of the entire genome or specific genes associated with hereditary conditions. This comprehensive approach provides a more thorough understanding of an individual's genetic risk factors. The field of molecular testing has seen significant technological advancements in recent years. Next-generation sequencing (NGS) and advanced PCR techniques have become more accessible and cost-effective. These innovations have made it easier to conduct large-scale genetic testing, contributing to the segment's dominance. Molecular testing is a cornerstone of personalized medicine, which tailors medical treatments and interventions to an individual's genetic makeup. As personalized medicine gains prominence, molecular testing becomes increasingly important in identifying genetic markers that can guide treatment decisions and improve patient outcomes. The range of hereditary tests that can be conducted through molecular techniques continues to expand. These tests cover a wide spectrum of conditions, including cancer predisposition, cardiovascular diseases, rare genetic disorders, and more. The versatility of molecular testing appeals to a broad audience of healthcare providers and patients. Molecular testing is often accompanied by genetic counseling services. Genetic counselors play a crucial role in interpreting test results, explaining their implications to patients, and helping them make informed decisions about their healthcare. This integration adds value to molecular testing services.

Regional Insights

Based on Region, North America has emerged as the dominant region in the hereditary testing market due to a combination of factors that support rapid adoption and growth. The region has a high prevalence of genetic disorders, particularly hereditary cancers, which drives demand for early detection and personalized treatment. Its advanced healthcare infrastructure allows for the widespread integration of genetic testing into clinical practice, while ongoing investments in research and development have led to continuous improvements in testing accuracy and accessibility. Additionally, the presence of major biotechnology and diagnostic companies in the U.S. fosters innovation and market competitiveness. Favorable government policies, growing public awareness, and reimbursement support for genetic testing further contribute to its widespread use. With a strong focus on precision medicine and proactive healthcare, North America continues to lead the way in hereditary testing, setting a benchmark for other regions to follow.

Moreover, In January 2020, Quest Diagnostics, a leading provider of diagnostic information services, announced the all-cash acquisition of Blueprint Genetics. Known for its expertise in gene variant interpretation through next-generation sequencing (NGS) and proprietary bioinformatics, Blueprint Genetics brings advanced capabilities to the table. Through this acquisition, Quest and Blueprint aim to enhance patient care and support pharmaceutical research and development by expanding access to valuable insights into genetic and rare diseases. Initiatives like this are expected to bolster the landscape of genetic testing for hereditary disorders in North America, ultimately driving regional market growth and revenue generation.

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Recent Developments   

• In April 2024, Agilent Technologies, Inc. received Class C Certification under the EU IVDR for its GenetiSure Dx Postnatal Assay, which enables earlier and more accurate detection of genetic abnormalities compared to traditional methods.
• In April 2024, Konica Minolta, Inc. (Ambry Genetics) launched the INTERACT Collaboration to promote hereditary cancer testing. The initiative aims to improve access and influence medical guidelines for individuals at risk of hereditary cancers.
• In April 2024, Quest Diagnostics and Broad Clinical Labs announced a research partnership to demonstrate the clinical value of whole genome sequencing (WGS) as a first-line test for diagnosing developmental delays after birth.
• In January 2024, Myriad Genetics, Inc. signed a definitive agreement to acquire select assets from Intermountain Precision Genomics, including the Precise Tumor Test, Precise Liquid Test, and a CLIA-certified lab in Utah.
• In January 2024, Natera, Inc. acquired assets from Invitae’s non-invasive prenatal and carrier screening business, with an upfront payment of $10 million and up to $42.5 million in future payments and credits.
• In January 2022, Inotiv Inc. expanded its toxicology research capabilities by purchasing Integrated Laboratory System (ILS) for a sum of $56 million. The acquisition of ILS is anticipated to offer increased capacity and growth prospects for Inotiv, facilitating the expansion of their in-vivo and in-vitro toxicology services.
• In May 2023, The Australian government revealed a healthcare budget of USD 70.12 billion for the fiscal year 2022-2023, marking a 5.7% increase compared to the previous year. Within this budget, USD 26.27 million has been earmarked to provide assistance to newborn screening initiatives nationwide.
• In January 2020, ARCHIMED Life unveiled a strategic partnership with amides Holding GmbH to enhance and broaden the availability of specialized diagnostic services for genetic, biochemical, and biomarker testing.
• In January 2020, Quest Diagnostics, a provider of diagnostic information services, disclosed their acquisition of Blueprint Genetics, an expert in gene variant interpretation through next-generation sequencing (NGS) and proprietary bioinformatics, through an all-cash equity deal. This partnership between Quest and Blueprint Genetics aims to enhance patient care and advance pharmaceutical medication research and development by expanding the availability of valuable insights into genetic and rare disorders.

Key Market Players

• Myriad Genetics, Inc.
• Illumina, Inc.
• Natera, Inc.
• Laboratory Corporation of America Holdings
• F. Hoffmann-La Roche Ltd.
• Quest Diagnostics Incorporated
• COOPERSURGICAL, INC.
• Agilent Technologies, Inc.
• Thermo Fisher Scientific, Inc.
• SOPHiA GENETICS

Report Scope:

In this report, the Global Hereditary Testing Market has been segmented into the following categories, in addition to the industry trends which have also been detailed below:

• Hereditary Testing Market, By Disease Type:

o   Hereditary Cancer Testing

o   Hereditary Non-cancer Testing

• Hereditary Testing Market, By Technology:

o   Cytogenetic

o   Biochemical

o   Molecular Testing

• Hereditary Testing Market, By Region:

o   North America

§  United States

§  Canada

§  Mexico

o   Europe

§  France

§  United Kingdom

§  Italy

§  Germany

§  Spain

o   Asia-Pacific

§  China

§  India

§  Japan

§  Australia

§  South Korea

o   South America

§  Brazil

§  Argentina

§  Colombia

o   Middle East & Africa

§  South Africa

§  Saudi Arabia

§  UAE

Competitive Landscape

Company Profiles: Detailed analysis of the major companies present in the Global Hereditary Testing Market.

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Company Information

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