Hereditary Testing Market to Grow at a CAGR of 9% from 2025 to 2029

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What Are The Growth Projections For The Hereditary Testing Market Size During 2025–2029?

The hereditary testing market has seen strong expansion in recent years. It is anticipated to increase from $6.05 billion in 2024 to $6.62 billion in 2025, reflecting a compound annual growth rate (CAGR) of 9.3%. This historical growth can be linked to factors such as increasing parental age, broadening applications in cancer risk assessment, rising demand for early diagnosis and prevention, the escalating burden of rare and chronic diseases, greater accessibility to genetic counseling services, and the growing adoption of hereditary testing in reproductive health.

The hereditary testing market size is projected to experience substantial expansion in the coming years. This market is anticipated to reach a valuation of $9.35 billion by 2029, demonstrating a compound annual growth rate (CAGR) of 9.0%. This anticipated growth during the forecast period is primarily driven by factors such as a rise in collaborations between public and private genomic initiatives, an increasing demand for non-invasive prenatal testing (NIPT), the growing availability of genetic testing panels and kits, expanded application in population-wide screening programs, and an increasing focus on preventive and precision public health. Key trends characterizing the forecast period encompass progress in next-generation sequencing (NGS), technological breakthroughs in non-invasive prenatal testing (NIPT), advancements within bioinformatics platforms, improved point-of-care genetic testing devices, and innovations in multi-gene panel testing.

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Which Drivers Are Impacting The Hereditary Testing Market?

The increasing incidence of genetic disorders is projected to propel the expansion of the hereditary testing market. Genetic disorders are medical conditions that result from anomalies or mutations in an individual’s deoxyribonucleic acid, which can be inherited from one or both parents or develop without prior family history. The rise in these disorders is partly attributable to increased parental age, which heightens the probability of genetic mutations being transmitted to offspring. Hereditary testing supports patients with genetic disorders by enabling early diagnosis, guiding personalized treatment plans, and aiding family planning decisions through the identification of inherited mutations. For instance, in October 2024, data from the Cystic Fibrosis Trust, a UK-based charitable organization, indicated that the count of patients registered with cystic fibrosis climbed to 11,318 in 2023, up from 11,148 in 2022. Therefore, the growing prevalence of genetic disorders is a key driver for the hereditary testing market.

What Are The Segment Types Shaping The Hereditary Testing Market?

The hereditary testing market covered in this report is segmented –

1) By Test Type: Predictive Testing, Carrier Testing, Prenatal Testing, Newborn Screening, Diagnostic Testing, Other Test Types

2) By Sample Type: Blood Samples, Saliva Samples, Tissue Samples, Buccal Swabs, Urine Samples

3) By Technology Used: Next-Generation Sequencing (NGS), Polymerase Chain Reaction (PCR), Sanger Sequencing, Microarray Technology, Whole Genome Sequencing (WGS)

4) By Application: Oncology, Cardiovascular Diseases, Neurological Disorders, Metabolic Disorders, Other Applications

5) By End User: Hospitals, Diagnostic Laboratories, Research Institutes, Pharmaceutical Companies, Patients And Consumers

Subsegments:

1) By Predictive Testing: Breast Cancer 1 (BRCA1) and Breast Cancer 2 (BRCA2) Gene Mutation Testing, Lynch Syndrome Testing, Familial Hypercholesterolemia Testing, Huntington’s Disease Testing, Cardiomyopathy Genetic Testing

2) By Carrier Testing: Cystic Fibrosis Carrier Screening, Tay-Sachs Carrier Screening, Spinal Muscular Atrophy (SMA) Carrier Screening, Thalassemia Carrier Screening, Sickle Cell Carrier Testing

3) By Prenatal Testing: Non-Invasive Prenatal Testing (NIPT), Chorionic Villus Sampling (CVS), Amniocentesis, Expanded Carrier Screening (Prenatal Context), Cell-Free Fetal Deoxyribonucleic Acid Testing

4) By Newborn Screening: Phenylketonuria (PKU) Screening, Congenital Hypothyroidism Screening, Cystic Fibrosis Screening, Sickle Cell Disease Screening, Hearing Loss and Metabolic Disorder Panels

5) By Diagnostic Testing: Rare Disease Genetic Testing, Inherited Cancer Diagnostic Testing, Cardiogenetic Diagnostic Panels, Neurogenetic Disorder Testing, Monogenic Disease Panels

6) By Other Test Types: Pharmacogenomics Testing, Preimplantation Genetic Diagnosis (PGD), Whole Exome Sequencing (WES), Whole Genome Sequencing (WGS), Mitochondrial Deoxyribonucleic Acid Testing

What Trends Are Redefining The Hereditary Testing Market Dynamics?

Leading companies in the hereditary testing market are concentrating on technological advancements in genetic test kits to improve testing accuracy, decrease turnaround times, and enhance the detection of a wider array of genetic mutations. Genetic test kits are diagnostic tools designed to analyze an individual’s deoxyribonucleic acid (DNA) to identify genetic mutations or variations linked to inherited conditions or disease risks. For instance, in July 2023, Devyser Diagnostics AB, a Sweden-based biotechnology firm specializing in the development, manufacture, and sale of DNA diagnostic kits for hereditary disease testing, launched two new targeted next-generation sequencing kits, Devyser LynchFAP and Devyser BRCA PALB2. Devyser LynchFAP uniquely enables complete analysis of PMS2 (overcoming challenges posed by its pseudogene PMS2CL) alongside nine other key genes associated with hereditary colorectal cancer syndromes. Devyser BRCA PALB2 is a seamless single-tube solution that screens BRCA1, BRCA2, and PALB2 mutations in both blood and tumor samples. These kits are designed for streamlined lab workflows and offer efficient, user-friendly sequencing and dedicated software to support the confident detection of hereditary cancer risks.

Which Leading Players Are Enhancing Their Hereditary Testing Market Presence Worldwide?

Major companies operating in the hereditary testing market are F. Hoffmann-La Roche Ltd., Thermo Fisher Scientific Inc., Laboratory Corporation of America Holdings, Quest Diagnostics Incorporated, Agilent Technologies Inc., Illumina Inc., CooperSurgical Inc., QIAGEN N.V, Natera Inc., Myriad Genetics Inc., Fulgent Genetics Inc, Invitae Corporation, GeneDx LLC, Twist Bioscience Corporation, Color Health Inc., MedGenome Inc, SOPHiA GENETICS SA, Gene By Gene Ltd., Dante Labs Inc., 23mofang Co. Ltd.

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What Regional Growth Trends Are Shaping The Hereditary Testing Market Outlook?

North America was the largest region in the hereditary testing market in 2024. Asia-Pacific is expected to be the fastest-growing region in the forecast period. The regions covered in the hereditary testing market report are Asia-Pacific, Western Europe, Eastern Europe, North America, South America, Middle East, Africa.

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