Saudi Arabia Genetic Testing Market By Type (Carrier Testing, Diagnostic Testing, New-born Screening, Predictive & Pre-symptomatic Testing, Prenatal Testing, Others), By Disease (Sickle Cell Anemia, Thalassemia, Huntington's Disease, Cancer, Others), By Technology (Cytogenetic Testing, Biochemical Testing, Molecular Testing), By Service Providers (Clinical & Metabolic Specialists, Genetic Counsellors, Diagnostic Laboratories, Hospitals), By Region, Competition, Opportunity & Forecast, 2019-2029F

Market Overview

Saudi Arabia Genetic Testing Market was valued at USD 0.27 Billion in 2023 and is expected to reach USD 0.47 Billion by 2029 with a CAGR of 9.75%. 

Genetic testing is a medical diagnostic process that analyzes an individual's DNA to uncover information about their genetic makeup, inherited traits, disease risks, and other genetic characteristics. It provides valuable insights into a person’s genetic profile and has wide applications in healthcare, research, and personal decision-making. The process involves studying the sequence of nucleotide base pairs in DNA, which contains the body’s biological instructions. Before testing, individuals typically consult genetic counselors who explain the procedure, possible outcomes, and implications, helping them make informed choices. DNA samples are collected through blood, saliva, cheek swabs, or tissue biopsies.

Growing awareness of genetic testing’s role in disease prevention, early detection, and personalized treatment is driving market growth. Public health campaigns and educational initiatives have strengthened the understanding of its benefits among patients and healthcare providers. In parallel, technological advancements such as next-generation sequencing (NGS) and gene-editing techniques have improved testing accuracy, affordability, and efficiency making genetic testing more accessible to a wider population.

Rising cancer prevalence and the growing emphasis on precision medicine are fueling demand for genetic testing in oncology. Identifying cancer susceptibility and tailoring treatment based on individual genetic profiles are now central to modern cancer care. Similarly, pharmacogenomic testing analyzing how genetic variations affect drug response is gaining traction as healthcare moves toward personalization. By enabling optimized medication choices and reducing adverse reactions, pharmacogenomics is reshaping treatment strategies. Collectively, these trends underscore genetic testing’s expanding role in predictive, preventive, and personalized medicine, marking it as a cornerstone of future healthcare innovation.

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Key Market Drivers

Increased Awareness About Genetic Testing

Awareness campaigns and educational initiatives are crucial in helping individuals and families understand their genetic risks, empowering them to make informed choices about healthcare, family planning, and disease prevention. As awareness grows, more people consider genetic testing to assess their likelihood of developing inherited conditions like diabetes, which affects 27.19% of the Saudi population, and take proactive steps to manage potential risks. Recognized as a key tool for preventive healthcare, genetic testing enables early identification of health risks and supports timely interventions.​

Couples aware of genetic conditions in their families increasingly opt for preconception or carrier testing, with national data indicating that over 83% of participants consider premarital screening important for protecting future generations. Similarly, informed expectant parents are more likely to choose non-invasive prenatal testing (NIPT) to assess fetal health and screen for chromosomal disorders such as Down syndrome.​

In oncology, rising awareness of genetic influences on cancer susceptibility and treatment outcomes has spurred demand for testing. Patients and clinicians now prioritize personalized therapies based on genetic profiles, improving treatment precision and effectiveness. Likewise, growing understanding of genetic variation in drug response is fueling interest in pharmacogenomic testing, helping optimize medication selection and dosage.​

Public health campaigns, healthcare provider recommendations, and advocacy from patient organizations play a pivotal role in spreading awareness about the benefits and limitations of genetic testing. Informed patients are better equipped to make healthcare decisions aligned with their goals. Emphasis on the importance of family medical history particularly inherited genetic factors encourages individuals to explore testing for deeper insight into their health risks.​

Awareness efforts also target rare diseases, prompting affected families to seek genetic testing for accurate diagnosis and treatment guidance. Advocacy groups and healthcare professionals continue to drive this awareness, fostering a culture of proactive genetic health management in line with Vision 2030. These combined efforts are instrumental in accelerating the growth and development of the Saudi Arabia Genetic Testing Market.

Technological Advancements

Next-Generation Sequencing (NGS) has transformed genetic testing by enabling the simultaneous sequencing of multiple genes or even entire genomes at unprecedented speed and accuracy. This high-throughput technology is central to initiatives like the Saudi Genome Program (SGP), which aims to sequence 100,000 genomes to create a national genetic database. Whole Genome Sequencing (WGS) decodes an individual’s complete genetic makeup, providing extensive data for detecting a wide range of conditions, and Whole Exome Sequencing (WES) offers a more cost-effective alternative by targeting protein-coding regions where most disease-causing mutations occur. To date, the SGP has processed over 63,000 samples and identified 7,500 pathogenic variants.​

Advancements in pharmacogenomics further enhance the personalization of medicine. In Saudi Arabia, the King Faisal Specialist Hospital and Research Center (KFSH&RC) has launched the first pharmacogenomic profiling service in the region, initially covering medications such as Metoprolol, Simvastatin, and Warfarin. High-throughput platforms now facilitate large-scale analysis of genetic markers, and DNA microarrays streamline genotyping and gene expression profiling. Similarly, digital PCR enables highly sensitive quantification of genetic mutations and rare variants.​

The integration of advanced bioinformatics tools has simplified the processing and interpretation of vast genetic datasets, improving the detection of disease-associated variations. Liquid biopsy technologies, such as circulating tumor DNA (ctDNA) analysis, allow non-invasive monitoring of genetic alterations in cancer. KFSH&RC was the first in the Middle East to adopt this technology, which can detect around 50 cancer-related genes and over 3,000 genetic mutations from a small blood sample.​

Technological progress in miniaturized and portable genetic testing devices has made point-of-care testing more accessible, especially in remote regions. Meanwhile, artificial intelligence (AI) and machine learning are being leveraged to uncover patterns in complex genetic data, enhancing disease prediction and therapy selection. Continued innovation and cost reductions are making genetic testing increasingly affordable and widespread. Improved biobanking and sample management technologies also ensure the long-term preservation of genetic material for research and diagnostics. Collectively, these advancements are poised to accelerate the growth of the Saudi Arabia Genetic Testing Market.

Rise in Cancer Diagnostics

Genetic testing plays a vital role in identifying individuals with inherited mutations that increase cancer risk, enabling early detection and personalized monitoring. One study in Saudi Arabia found that 38.4% of a cohort carried pathogenic variants linked to hereditary cancer risk. By analyzing a patient’s tumor genetics, testing also supports precision medicine by tailoring treatment strategies to the specific molecular characteristics of the cancer, a field advanced by initiatives like the Precision Oncology Saudi Summit. Families with hereditary cancer syndromes benefit greatly from such testing, as it identifies carriers who may require closer surveillance or preventive measures.​

The growing emphasis on cancer diagnostics has driven demand for genetic counseling, where specialists guide individuals in understanding their cancer risk and test results. Testing for BRCA1 and BRCA2 mutations remains crucial for assessing breast and ovarian cancer susceptibility; one study of high-risk Saudi patients found that 12.9% had deleterious BRCA mutations, though another study indicated that overall testing rates remain low at just 3.7% of breast cancer patients in the Eastern Region. Similarly, Lynch syndrome, linked to higher risks of colorectal and other cancers, can be detected through genetic testing, with one study of young Saudi colorectal cancer patients finding that approximately 1 in 9 were candidates for testing, prompting timely interventions. In pancreatic cancer, identifying hereditary mutations offers valuable insight for risk assessment and family screening.​

In lung cancer, genetic testing helps detect actionable mutations like EGFR, which was found in 29% of patients in one Al-Madinah study, to inform the use of targeted therapies and immunotherapies. Many clinical trials in Saudi Arabia now integrate genetic testing to select participants with specific genetic profiles, strengthening its role in precision oncology research.​

Advocacy groups, healthcare providers, and awareness campaigns continue to highlight the importance of understanding genetic risk in cancer prevention and treatment. As research advances, new genetic markers and therapeutic targets are being uncovered, expanding the clinical applications of genetic testing. These developments, coupled with growing awareness, research activity, and personalized treatment adoption, are set to accelerate demand for genetic testing within Saudi Arabia’s oncology landscape and further drive the growth of the country’s genetic testing market.

Key Market Challenges

Data Privacy and Security

Genetic information is highly personal and sensitive. It can reveal not only an individual's health status but also information about their family members. Protecting the privacy of this data is crucial. The vast amount of genetic data generated through testing needs secure storage and management. This includes protecting data from unauthorized access and ensuring its integrity. Genetic data breaches can lead to identity theft, insurance discrimination, or other forms of exploitation. The consequences of data breaches involving genetic information can be severe.

While there may be some regulatory framework in place, the evolving nature of genetic testing and data privacy challenges means that clear and comprehensive regulations are essential. Saudi Arabia may need to further refine its regulatory framework to address these issues. Patients must provide informed consent for genetic testing, understanding the implications for data privacy and security. Ensuring individuals fully comprehend what they are consenting to is a challenge. Collaborative research efforts and data sharing can be beneficial, but they also introduce potential privacy and security risks, especially if data is shared across borders.

Cultural and Religious Factors

Saudi Arabia has a conservative cultural and social environment, and privacy is highly valued. Sharing personal health information, especially genetic information, may be viewed with apprehension due to concerns about privacy and confidentiality. Islamic beliefs influence many aspects of life in Saudi Arabia, including healthcare decisions. Some individuals and families may have religious concerns about genetic testing, especially when it relates to prenatal testing, which can lead to ethical and religious dilemmas. Family is central in Saudi Arabian culture, and healthcare decisions often involve the family as a collective unit.

Decisions about genetic testing may require consensus and may be influenced by family opinions. Concerns about potential stigma and discrimination may deter individuals from undergoing genetic testing. There may be a fear of social or familial repercussions if certain genetic conditions are discovered. Marriage is an important cultural and religious institution in Saudi Arabia. Genetic testing for hereditary conditions may be particularly relevant for couples planning to marry. However, the introduction of mandatory premarital genetic testing has faced mixed reactions in the past.

Key Market Trends

Increased Demand for Personalized Medicine

Genetic testing is being used to assess an individual's genetic predisposition to various diseases, including cancer, cardiovascular conditions, and neurodegenerative disorders. This information can inform proactive health measures and early intervention. Pharmacogenomic testing is increasingly employed to determine how an individual's genetic makeup affects their response to medications. This allows for the selection of the most effective and safe medications for an individual, reducing the risk of adverse reactions. Genetic testing of cancerous tumors helps identify specific genetic mutations driving the cancer. This information is vital for selecting targeted therapies and predicting treatment outcomes. Genetic testing is used to diagnose and manage rare and inherited diseases.

In Saudi Arabia, where certain genetic conditions are more prevalent, this is especially relevant. Couples and expectant parents are increasingly interested in genetic testing to assess the risk of passing on genetic disorders to their children, driving demand for preconception and prenatal genetic testing. Physicians are using genetic information to create customized treatment plans for patients, considering their unique genetic profiles. This can lead to more effective and personalized healthcare. Genetic testing can identify individuals at risk of developing certain diseases. This allows for preventive measures and early disease detection, potentially improving health outcomes.

Segmental Insights

Type Insights

In 2023, the Saudi Arabia Genetic Testing Market largest share was held by Diagnostic Testing segment and is predicted to continue expanding over the coming years. Diagnostic testing is at the core of genetic testing, as it is primarily used to detect and diagnose genetic disorders and diseases. It plays a crucial role in identifying various medical conditions, including inherited genetic diseases, genetic predispositions, and genetic variations associated with diseases. Genetic disorders, including inherited genetic conditions and genetic predispositions to diseases, are prevalent in populations worldwide, including Saudi Arabia. Diagnostic testing is essential for early disease detection and management.

Saudi Arabia, like many countries, has established newborn screening programs that involve diagnostic genetic testing. These programs aim to identify and diagnose genetic and metabolic disorders in newborns, allowing for early intervention and treatment. The high prevalence of newborn screening contributes to the prominence of the Diagnostic Testing segment. Genetic counselling is often accompanied by diagnostic testing, helping individuals and families understand their genetic risks and make informed decisions about their healthcare and family planning. Diagnostic genetic testing is not only used for diagnosis but also for monitoring the progress and management of genetic disorders. Regular testing is important for patients with known genetic conditions to track their health status and response to treatments.

Technology Insights

In 2023, the Saudi Arabia Genetic Testing Market largest share was held by Biochemical Testing segment in the forecast period and is predicted to continue expanding over the coming years.  Biochemical testing is a broad category that encompasses a wide range of genetic tests, including metabolic and enzymatic assays, hormone tests, and tests for specific biochemical markers associated with genetic disorders. These tests play a critical role in diagnosing and monitoring various genetic and metabolic conditions, making them a fundamental component of genetic testing. Many countries, including Saudi Arabia, have implemented newborn screening programs that involve biochemical tests. These programs aim to detect and diagnose genetic and metabolic disorders in newborns, allowing for early intervention and treatment. The high prevalence of newborn screening contributes to the prominence of the Biochemical Testing segment.

Biochemical testing is often used to diagnose common genetic disorders like phenylketonuria (PKU), congenital hypothyroidism, and galactosemia. These conditions require early detection and management, making biochemical testing an essential component of genetic healthcare. Biochemical tests are routinely performed in clinical practice, and they are often the first step in identifying potential genetic issues. As such, they have a broad application and are commonly used by healthcare professionals. Many genetic and metabolic disorders have well-established diagnostic protocols that involve biochemical testing. Physicians are trained to use these tests as part of their diagnostic toolkit.

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Regional Insights

The Northern & Central region dominated the Saudi Arabia Genetic Testing Market in 2023. The Northern and Central regions of Saudi Arabia are home to major cities like Riyadh, Jeddah, and Dammam, which have well-established healthcare infrastructure and facilities. These regions typically have more advanced medical centers, hospitals, and laboratories equipped for genetic testing services. The Northern and Central regions have higher population densities compared to other parts of the country.

This results in a larger pool of potential customers for genetic testing services, as well as a higher concentration of healthcare professionals and facilities. These regions are also the economic hubs of the country, with greater economic development and higher income levels. This makes genetic testing more accessible to individuals who can afford such services. Major universities, research institutions, and medical schools are often located in the Northern and Central regions. These institutions may conduct genetic research and offer genetic testing services, contributing to the growth of the market.

Recent Developments

• In October 2025, US-based AI pharmacogenomics company PGxAI partnered with Riyadh's Najashi Holding to introduce its AI-powered platform to Saudi Arabia. The joint venture will integrate PGxAI's technology into the local healthcare system to personalize drug selection and reduce adverse reactions.
• King Faisal Specialist Hospital & Research Centre (KFSHRC) signed an agreement in July 2025 with the Rady Children’s Institute for Genomic Medicine (RCIGM) from the United States. The collaboration aims to implement RCIGM's genome-based newborn screening platform, which can detect over 500 treatable genetic diseases early.
• In September 2025, US molecular diagnostics firm Co-Diagnostics, Inc. signed a Memorandum of Understanding (MOU) with a Saudi partner to form a joint venture. This venture will manufacture and distribute Co-Diagnostics' PCR testing platform throughout the Middle East and North Africa.
• ImmunityBio entered into a strategic MOU in May 2025 with the Saudi Ministry of Investment, KFSHRC, and the King Abdullah International Medical Research Center (KAIMRC). This partnership will launch a "Cancer BioShield" platform focused on advanced cell therapy.
• In January 2025, KFSHRC launched precision medicine services within its Family Medicine Clinics. This initiative allows for the creation of targeted preventive and therapeutic plans based on a patient's genetic profile, lifestyle, and family medical history. It gives patients direct access to the latest genetic tests without needing referrals to specialized clinics.

Key Market Players

• Anwa Medical Labs
• NoorDX
• Scientific Laboratories Alliance Company Ltd.
• ELAJ Group
• Genetrack Saudi Arabia
• Johnson & Johnson Services, Inc.
• OncoDNA SA
• Baylor Genetics-King Faisal Specialist Hospital — Saudi Diagnostic Limited

Report Scope:

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

• Saudi Arabia Genetic Testing   Market, By Type:

o   Carrier Testing

o   Diagnostic Testing

o   New-born Screening

o   Predictive & Pre-symptomatic Testing

o   Prenatal Testing

o   Others

• Saudi Arabia Genetic Testing   Market, By Disease:

o   Sickle Cell Anemia

o   Thalassemia

o   Huntington's Disease

o   Cancer

o   Others

• Saudi Arabia Genetic Testing   Market, By Technology:

o   Cytogenetic Testing

o   Biochemical Testing

o   Molecular Testing

• Saudi Arabia Genetic Testing   Market, By Service Providers:

o   Clinical & Metabolic Specialists

o   Genetic Counsellors

o   Diagnostic Laboratories

o   Hospitals

• Saudi Arabia Genetic Testing Market, By region:

o   Eastern

o   Western

o   Northern & Central

o   Southern

Competitive Landscape

Company Profiles: Detailed analysis of the major companies presents in the Saudi Arabia Genetic Testing   Market.

Available Customizations:

Saudi Arabia Genetic Testing   Market report with the given market data, TechSci Research offers customizations according to a company's specific needs. The following customization options are available for the report:

Company Information

• Detailed analysis and profiling of additional market players (up to five).

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