Hereditary Genetic Testing Market Report, By Type of Genetic Variation (Single Nucleotide Polymorphism [SNP] Testing, Copy Number Variation [CNV] Testing, Insertion/Deletion [INDEL] Testing, Structural Variation Testing); By Clinical Application (Cancer Genetic Testing, Cardiovascular Genetic Testing, Neurological Genetic Testing, Rare Diseases Genetic Testing); End User, Technology, and Regions 2024-2032

Market Overview:

"The global hereditary genetic testing market was valued at US$ 5.2 Billion in 2023 and is expected to register a CAGR of 7.9% over the forecast period and reach US$ 10.3 Bn in 2032."

Report Attributes	Details
Base Year	2023
Forecast Years	2024-2032
Historical Years	2021-2023
Market Growth Rate (2024-2032)	7.9%

Hereditary genetic testing involves analysing the DNA of an individual to detect any inherited genetic variations that can be linked or associated with disease risk, underlying health conditions, or traits. There are differences between hereditary and genetic diseases, and while all hereditary diseases are genetic, but all genetic diseases are not hereditary. Understanding the characteristics of each is crucial to understanding the differences between these two. Much in this understanding can shed light on how genetic diseases may be transmitted by parents to their offspring or not. Alterations in the genetic material can result in a disease being transmitted from parents to child and this is termed as hereditary disease.

Analysis of specific genes or genetic markers, and identification of genetic predispositions in an individual serves to gain insights into any potential health outcomes, as well as aids in proactive management, development of personalized medical care, and tailored treatment plans. Hereditary genetic testing finds application across medical, research, and consumer sectors, and its usage has been increasing significantly in the recent past.

Testing also enables individual to learn their genetic susceptibilities and explore and adopt lifestyle changes in order to prevent potential onset of diseases. Hereditary genetic testing is also gaining traction in oncology, enabling identification of inherited cancer risks and facilitating early detection and intervention. In addition, hereditary genetic testing results have become even more accurate, faster, and affordable due to advancements in next-generation sequencing, and this has further expanded accessibility and usage.

Testing is also being increasingly used in pharmacogenomics to develop customized or personalized medications and drugs based on individual genetic profiles, and has also gained significant traction in nutrigenomics to explore the interaction between genetics and nutrition and to develop personalized diets and recommendations. Furthermore, performing prenatal testing for early detection of fetal genetic abnormalities through maternal blood samples is serving to revolutionize prenatal care, and technological advancements in this field are expected to continue to drive breakthroughs as well as further progress of precision medicine and support revenue growth of this market. AI swiftly and correctly pinpoints genetic variations related to diseases or traits. The use of Artificial Intelligence (AI) has been allowing for major advancements in hereditary and genetic testing more recently. AI can use, process, and interpret large amounts of genetic data to personalize medicines based on a specific patient's genetics. The advantages or being able to analyze large-scale datasets using AI and to gain insights about population-level genetic variants is having major impact in this field. Machine Learning (ML) has also been making it easier to determine genome sequencing as this technology has potential to highlight crucial parts in the genetic makeup of an organism, and also, ML models use the DNA sequence to predict the expression of a gene.

Hereditary Genetic Testing Market Trends and Drivers:

Advancements in medical technology and diagnostic tools enable early and accurate disease detection, and aid in timely interventions. DNA testing is being opted for by more individuals to determine risks for conditions such as obesity, heart disease, type 2 diabetes, and cancer-causing genetic mutations, as well as to determine whether a person has a genetic condition that runs in the family before any symptoms can manifest. Also, genetic testing is a means of learning about the possibilities for a current or future pregnancy having a genetic condition, or to diagnose a genetic condition if one child or parent has some symptoms. Testing also provides potential for greater understanding of individual heath and the health of family members and with the prevalence of cancer increasing globally, testing for cancer risk has been on the rise recently.

Rising awareness regarding the negative consequences of genetic disorders and popularity of preventive healthcare continue to gain prominence with increasing number of individuals opting for regular health checkups and screening for diseases and conditions in order to address potential risks that may arise in future. Diagnosis has been showing that a number of diseases are linked to ancestry and hereditary conditions, and diagnosing inherited diseases and disorders have been gaining traction in recent times.

Hereditary Genetic Testing Market Restraining Factors:

Limited awareness regarding the syndrome and conditions among the general population and healthcare professionals may be leading to delayed diagnosis and treatment initiation. Also, the potential side effects and complications associated with certain medications and surgical interventions may discourage individuals from pursuing treatment. Financial constraints and lack of insurance coverage can also pose barriers, hindering access to advanced treatment options. In addition, fear and apprehension related to surgery, especially in cases requiring invasive procedures and those heart-related, contribute to patient reluctance to a major extent.

Moreover, high cost of advanced treatments and surgical procedures can limit accessibility, particularly in regions with constrained healthcare budgets. Regulatory hurdles and stringent approval processes for new therapies also impede market expansion. The complexities and potential complications associated with surgical interventions may dissuade both patients and healthcare providers from opting for certain treatments, and this coupled with scarcity of skilled professionals proficient in the latest technologies poses a bottleneck.

Hereditary Genetic Testing Market Opportunities:

A number of challenges in this field present potential opportunities for companies operating in the market. Detecting hereditary cancer continues to present complexities for laboratories worldwide, including for germline cancers, which are defined as diseases caused by inherited genetic variants within cancer susceptibility genes. These include breast, ovary, uterus, prostate, and cancers of the gastrointestinal system, prevalence of which are significantly high globally. Molecular genetic testing can aid in determining whether an individual is carrying specific inherited genetic variants, but interpreting and effectively communicating test results present further complexities. The complexity and diversity of cancer-related genes and mutations is a major area of concern across laboratories and identifying specific genetic alterations requires advanced technologies and expertise, and besides, having access to comprehensive genetic databases for accurate interpretation can also be quite a challenge. Addressing gaps can result in making cost of genetic testing lower and more affordable, and focus on resolving challenges associated with the limited availability of specialized laboratories and centers can further ease logistical and financial challenges.

Also, offering comprehensive genetic panels that cover a range of health conditions can enable companies to attract a wider customer base. Bundling packages or subscription-based services can not only enhance customer value, but also generate recurring revenue. Companies can also enter into partnerships with healthcare providers, pharmaceutical companies, and research institutions to integrate genetic testing into clinical practice and drug development, thereby unlocking new revenue through collaborations and licensing. Use of AI and Machine Learning (ML) to analyze genetic data and provide personalized insights can also add value to testing services and command premium prices.

Hereditary Genetic Testing Market Segmentation:

By Type of Genetic Variation

• Single Nucleotide Polymorphism (SNP) Testing
• Copy Number Variation (CNV) Testing
• Insertion/Deletion (INDEL) Testing
• Structural Variation Testing

Single Nucleotide Polymorphism (SNP) testing segment is expected to account for the largest revenue share due to widespread use in population studies, disease association studies, and medical field. With millions of SNPs identified in the human genome, this testing method provides a broad coverage of genetic variation associated with health conditions, making it a preferred choice for research and clinical applications.  

By Clinical Application

• Cancer Genetic Testing
• Cardiovascular Genetic Testing
• Neurological Genetic Testing
• Rare Diseases Genetic Testing

With personalized cancer treatment and early detection strategies gaining momentum, revenue share of the cancer genetic testing segment is expected to increase significantly over the forecast period. Adoption by healthcare providers for tailored therapy options and risk assessment of hereditary cancer symptoms has gained traction due to advances in genomic technologies that allow identification of cancer predisposition genes and therapeutic targets, and also, an increasing number of patients, individuals, and healthcare facilities and testing centers are expected to continue to opt for these tests.

By End User

• Hospitals and Clinics
• Diagnostic Laboratories
• Research Institutes
• Direct-to-Consumer (DTC) Genetic Testing Companies

Among the end-user segments, the diagnostic laboratories segment is expected to account for largest revenue share. Capability to offer a broad range of services including high-throughput sequencing as well as interpretation expertise to meet the needs of patients, researchers, and healthcare providers positions diagnostic laboratories as a critical setting in the medical field. In addition, outsourcing of genetic testing services for specialized laboratories is expected to further support dominance of this segment.

By Technology

• Polymerase Chain Reaction (PCR)
• Next-Generation Sequencing (NGS)
• Microarray
• Fluorescence In Situ Hybridization (FISH)

Among the technology segments, the Next Generation Sequencing segment is expected to continue to lead in terms of revenue share as a result of ability to process, precision, and low cost of this testing technique. Also, capacity for rapid sequencing from whole genomes to targeted regions, makes it a revolutionary genetic testing tool that is applicable in cancer diagnosis, prenatal screening, and inherited disease identification, among others.

By Region

North America

• United States
• Canada

Europe

• Germany
• United Kingdom
• France
• Italy
• Spain
• Russia
• Poland
• Benelux
• Nordic
• Rest of Europe

Asia Pacific

• China
• Japan
• India
• South Korea
• ASEAN
• Australia & New Zealand
• Rest of Asia Pacific

Latin America

• Brazil
• Mexico
• Argentina

Middle East & Africa

• Saudi Arabia
• South Africa
• United Arab Emirates
• Israel
• Rest of MEA

The global hereditary genetic testing market is divided into five key regions: North America, Europe, Asia Pacific, Latin America, and the Middle East and Africa. North America is the largest player in global genetic testing market for inherited diseases, with the US currently accounting for substantially large revenue share contribution. Availability of developed healthcare infrastructure, favorable reimbursement policies, and strong research and development activities and initiatives are some of the major factors supporting growth of the market in the region.

In Asia Pacific, countries such as China and Japan are becoming significant contributors to genetic testing market due to increased spending on health care systems, as well as increasing awareness about genetics tests and technological advancements. Europe market growth is supported significantly by the United Kingdom, Germany and France, which are leading in terms of testing due to high prevalence of disorders caused by gene mutations, growing tendency towards personalized therapy models that utilize genotyping or gene sequencing platforms in oncology or prenatal diagnosis, and broadening application areas such as pharmacogenomics tests focused on identifying specific DNA markers influencing response profiles particularly for metabolic clearance of cytochrome P450 enzymes. Moreover, the markets in these regions also benefit from supportive government programs and partnerships between various players from industry and academic sectors.

Leading Companies in Hereditary Genetic Testing Market & Competitive Landscape:

The global hereditary genetic testing market is a highly competitive, with leading companies adopting strategies to maintain their leadership positions and expand their customer bases. Major firms are engaged in partnership agreements with medical providers, pharmaceutical industries, and academic institutions that enhance the access of genetic tests by patients. This will enable clinical integration of genetic testing into drug development pipeline, which will increase market penetration. Also, investing significantly in R&D to remain relevant in this market and development of new testing technologies and applications is a continuous focus area. Companies are focusing on diversification of test menus while offering better test accuracy, speed, and convenience at lesser cost for an evolving patient population base. In addition, vigorous marketing campaigns targeting consumers on the benefits of undergoing genetic tests or personalized medicines serve to drive a changing trend, maintain an edge, and expand reach in a highly competitive market.

These companies include:

• 23andMe, Inc.
• Ambry Genetics
• BGI Group
• BioReference Laboratories, Inc.
• Color Genomics
• Eurofins Scientific
• Fulgent Genetics
• Illumina, Inc.
• Invitae Corporation
• Laboratory Corporation of America Holdings (LabCorp)
• Myriad Genetics, Inc.
• Natera, Inc.
• Qiagen N.V.
• Quest Diagnostics
• Thermo Fisher Scientific Inc.

Recent Key Development:

• April 3, 2024: Ambry Genetics (Ambry) and its collaborators – made up of Leading commercial organizations, such as laboratory members, and patient advocacy groups in the field of cancer genetics - announced the launch of the Inter-Organization Cancer Genetics Clinical Evidence Coalition (INTERACT), with the objective to enhance availability of specialized genetic testing for individuals with inclination towards hereditary cancers. Using specialized genetic data, the aim is to help to manage cancers better through increased monitoring, advancements in chemoprevention techniques, and offer of targeted treatments and surgical procedures to reduce potential disease risks. In addition, on March 25, 2024, Ambry) and Tempus announced entering into a strategic collaboration to develop and introduce best-of-class, comprehensive, germline and somatic testing services. Amry is a leader in clinical diagnostic testing, and its CancerNext and CancerNext-Expanded assays use next-generation sequencing to identify genetic variants associated with hereditary cancer syndromes and inherited risk of cancer. Tempus is a leader in Artificial Intelligence (AI) and precision medicine, and as part of the agreement, Ambry is performing germline sequencing assays for Tempus, powered by its CancerNext and CancerNext-Expanded assays, and will be utilizing next-generation sequencing to identify genetic variants associated with hereditary cancer syndromes and inherited risk of cancer.
• March 25, 2024: Genetic Technologies Limited, which is a global leader in guideline-driven genomics-based testing in health, wellness, and serious diseases, announced the development of its most advanced risk assessment test for serious diseases. This development has been built on the success of the company’s Comprehensive Hereditary Breast and Ovarian Cancer (HBOC) test, and the latest innovation is to be a world first. The test covers over 200 high penetrant genes to unlock the hereditary disease risk to its current multi-test associated with the most common cancers, cardiovascular disease, and type 2 diabetes.
• March 12, 2024: Leading medical genetics company – Invitae - launched of an update to Invitae Generation with Clinical Variant Modeling, which is a novel machine learning approach designed to aid clinical interpretation of genetic testing results and increase the rate of definitive answers for patients. Development of this solution has been achieved by a multidisciplinary team comprising computational biologists, ML engineers, clinical experts, and geneticists. This new method is the latest update to Invitae Generation, which is the company's sophisticated platform that unifies evidence generation and systematic variant classification.
• January 2024: BGI Genomics announced the NIFTY ultra-fast non-invasive prenatal genetic testing product, which utilizes the innovative DNBSEQ-G99 platform. The platform, designed for both small and medium throughput, ensures high-quality testing performance, accuracy, and quality, and can offer clinical laboratories quicker and more accurate prenatal genetic testing results. BGI Europe A/S, which is a wholly owned subsidiary of BGI Genomics, has been granted an extension under its existing CE-IVDD certification to include the DNBSEQ-G99 model to meet the European Union regulations for medical devices.

Hereditary Genetic Testing Market Research Scope

Report Metric	Report Details
Market size available for the years	2021-2023
Base Year	2023
Forecast Period	2024-2032
Compound Annual Growth Rate (CAGR)	7.9%
Segment covered	Genetic Variation, Clinical Application, End User, Technology, and Region
Regions Covered	North America: The U.S. Canada Latin America: Brazil, Mexico, Argentina, & Rest of Latin America Asia Pacific: China, India, Japan, Australia & New Zealand, ASEAN, & Rest of Asia Pacific Europe: Germany, The U.K., France, Spain, Italy, Russia, Poland, BENELUX, NORDIC, & Rest of Europe The Middle East & Africa: Saudi Arabia, United Arab Emirates, South Africa, Egypt, Israel, and Rest of MEA
Fastest Growing Country in Europe	UK
Largest Market	North America
Key Players	23andMe, Inc., Ambry Genetics, BGI Group, BioReference Laboratories, Inc., Color Genomics, Eurofins Scientific, Fulgent Genetics, Illumina, Inc., Invitae Corporation, Laboratory Corporation of America Holdings (LabCorp), Myriad Genetics, Inc., Natera, Inc., Qiagen N.V., Quest Diagnostics, Thermo Fisher Scientific Inc.