Hereditary Testing Industry Set to Achieve $9.35 Billion Milestone by 2029 | Steady 9% CAGR

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What Is the Long-Term Growth Forecast for the Hereditary Testing Market Size 2025?
In the past few years, the hereditary testing market has seen significant expansion. The market, which is projected to scale from $6.05 billion in 2024 to $6.62 billion in 2025, is expected to witness a compound annual growth rate (CAGR) of 9.3%. The historical growth can be linked to various factors such as the increase in parental age, growth in its use for assessing cancer risks, a surge in demand for preventive and early diagnosis, a rising load of rare and chronic ailments, improved access to genetic counseling services, and an increased tendency to integrate hereditary testing into reproductive health.

What CAGR is Forecasted for the Hereditary Testing Market Through 2029?
In the coming years, the hereditary testing market size is predicted to experience considerable growth, with an expected increase to $9.35 billion in 2029, reflecting a compound annual growth rate (CAGR) of 9.0%. This projected growth during the forecast period can be credited to the escalating collaborations between public genomic initiatives and private sectors, the rising demand for non-invasive prenatal testing (NIPT), expanding number of genetic testing panels and kits, wider usage in universal screening programs, and an increasing focus on prevention and precision in public health. The forecast period will also see significant trends such as advancements in next-generation sequencing (NGS), innovative progressions in non-invasive prenatal testing (NIPT), breakthroughs in bioinformatics platforms, enhancements in point-of-care genetic testing instruments, and advancements in multi-gene panel testing.

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What Are the Critical Factors Driving Hereditary Testing Market Development?
The rising incidence of genetic abnormalities is anticipated to stimulate the expansion of the hereditary testing market. Genetic deficiencies are medical conditions that are a result of irregularities or changes in a person's deoxyribonucleic acid, inherited from one or both parents or appearing unexpectedly. The upsurge in genetic deficiencies is partly due to the advancing age of parents, which heightens the probability of genetic mutations transferring to children. Hereditary testing aids patients with genetic disorders by facilitating early detection, directing customized treatment, and assisting in making informed decisions about family planning by identifying inherited changes. For example, the Cystic Fibrosis Trust, a charitable organization in the UK, reported that the count of patients registered with cystic fibrosis climbed to 11,318 in 2023 from 11,148 in 2022, in October 2024. Therefore, the increasing incidence of genetic disorders is fueling the growth of the hereditary testing market.

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How Does the Hereditary Testing Market Break Down Across Major Segments?
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: ket*onuria (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 Are the Major Trends Transforming the Hereditary Testing Industry?
Key players in the hereditary testing market are placing their focus on the elevation of technology in genetic test kits. Their goal is to improve testing precision, reduce the time taken to deliver results, and widen their identification capabilities for a variety of genetic mutations. Genetic test kits are diagnostic instruments created to examine an individual's DNA to identify genetic anomalies relating to inherited conditions or diseases. For example, in July 2023, Devyser Diagnostics AB, a biotechnology firm based in Sweden that specializes in designing, producing, and selling DNA diagnostic kits for inherited disease testing, introduced Devyser LynchFAP and Devyser BRCA PALB2, two new targeted next-generation sequencing kits. The former offers a comprehensive analysis of PMS2 and nine other significant genes associated with inherited colorectal cancer syndromes, overcoming challenges presented by its pseudogene, PMS2CL. The latter, Devyser BRCA PALB2, is a streamlined single-tube solution that checks for BRCA1, BRCA2, and PALB2 mutations in both blood and tumor samples. This kit is designed for streamlined laboratory workflows and includes effective, user-friendly sequencing along with dedicated software for confident identification of hereditary cancer risks.

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Which Players Are Driving Innovation in the Hereditary Testing Market?
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.

Which Regions Are Driving Global Hereditary Testing Market Expansion?
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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