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How Large Is the Hereditary Testing Market Expected to Be in 2029?

In the past few years, there has been a significant increase in the size of the hereditary testing market. This market is projected to expand from $6.05 billion in 2024 to $6.62 billion in 2025, with a Compound Annual Growth Rate (CAGR) of 9.3%. Various factors have contributed to the historic growth of this market, including a rise in parental age, broader use in assessing cancer risk, increasing requirement for early diagnosis and prevention, the escalating impact of rare and chronic illnesses, improved access to genetic counseling services, and an increase in the use of hereditary testing in the realm of reproductive health.

The genetic testing market is projected to undergo significant expansion in the upcoming years, expected to reach $9.35 billion by 2029 and experiencing a compound annual growth rate (CAGR) of 9.0%. Factors contributing to this projected growth during the forecast period include the rise in cooperative efforts between public and private genomic ventures, the growing need for non-invasive prenatal screening (NIPT), an increase in the availability of genetic testing panels and kits, their frequent use in broad-based population screening programs, and a heightened focus on prophylactic and precision public health initiatives. Key trends anticipated for the forecast period include advancements in next-generation sequencing (NGS), technological breakthroughs in non-invasive prenatal testing (NIPT), evolution of bioinformatics platforms, progress in point-of-care genetic testing apparatus, and improvements in multi-gene panel testing.

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What Are The Contributors To Demand In The Hereditary Testing Market?

The growth of the hereditary testing market is expected to be driven by the escalating occurrence of genetic disorders. These disorders can be traced back to defects or mutations in a person’s’s DNA, either due to inheritance from one or both parents or by spontaneous occurrence. A factor contributing to the rising genetic disorders is the advancing age of parents, increasing the chances of hereditary mutations being transmitted to their children. Hereditary testing plays a crucial role in supporting patients with genetic disorders by facilitating early diagnosis, guiding individualized treatment options, and assisting in family planning choices by identifying inherited mutations. The Cystic Fibrosis Trust, a charity based in the UK, documented a hike in cystic fibrosis patient registration in October 2024, recording 11,318 in 2023, an increase from 11,148 in the previous year. Therefore, the escalating prevalence of genetic disorders is propelling the growth of the hereditary testing market.

What Segmentation Categories Are Included In The Hereditary Testing Market Analysis?

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 Upcoming Trends Are Expected To Impact The Hereditary Testing Market Globally?

The hereditary testing market is noticing a trend where key players are focusing their efforts on improving the technology in genetic test kits to increase the precision of testing, lessen turnaround times, and enhance detection of a wider variety of genetic mutations. Genetic test kits are diagnostic tools used to examine an individual’s DNA to detect genetic mutations related to inherited diseases or risks. For instance, in July 2023, Devyser Diagnostics AB, a leading biotech firm from Sweden known for developing, producing, and selling DNA diagnostic kits specifically for hereditary disease testing, introduced two innovative next-generation sequencing kits – Devyser LynchFAP and Devyser BRCA PALB2. Devyser LynchFAP has a unique feature that facilitates comprehensive analysis of PMS2 (successfully dealing with the obstacles associated with its pseudogene PMS2CL) together with nine other crucial genes associated with hereditary colorectal cancer syndromes. On the other hand, Devyser BRCA PALB2 is a compact single-tube solution designed to screen BRCA1, BRCA2, and PALB2 mutations, applicable to both blood and tumor samples. It is optimized to make lab processes more streamlined and provides effective, user-friendly sequencing along with dedicated software to ensure reliable detection of hereditary cancer risks.

Who Are The Top-Ranked Companies In The Hereditary Testing Market Today?

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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How Is Hereditary Testing Market Adoption Varying Across Different Regions And Sectors?

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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