Genetic Testing Market Size, Share, Growth, Trends, and Global Industry Analysis: By Test (Cytogenetic Testing, Biochemical Testing, Molecular Testing), By Application (Predictive & Presymptomatic Testing, Carrier Testing, Prenatal & Newborn Testing, Diagnostic Testing, Pharmacogenomic Testing, Cancer Screening, Forensic, and Others), By Sample Type (Blood, Saliva, Hair Others), By End-user (Hospitals, Diagnostic Laboratories, Academic and Research Institutes) and Region Forecast 2020-2031

Genetic Testing Market size was valued at US$ 18.8 billion in 2024 and is expected to reach US$ 37.2 billion by 2031, growing at a significant CAGR of 10.2% from 2025-2031. Genetic testing is a type of medical test that identifies changes in genes, chromosomes, or proteins, from which a genetic counselor will access the results. The result of a genetic test can either confirm the presence of a genetic disorder or indicate the absence of the possibility; moreover, it contributes to determining a person's chance of passing on or developing an inherited genetic disorder.

Genetic testing and spending on that testing have grown rapidly since the mapping of the human genome editing in 2003. More than 77,000 genetic tests are currently in use across the globe, and more are being developed. Genetic Testing continues to play a significant role in cancer, prenatal, and newborn screening, particularly in regions where genetic diseases are prevalent. The market encompasses various activities related to the extraction, processing of genomes, and sale of Genetic Testing kits and Genetic Testing-based products. The primary driver is the demand for Genetic Testing in the prevalence of diseases like cancer and rare diseases.

According to Orphanet, out of 6,172 unique rare diseases 71.9% of which are genetic and 69.9% are exclusively pediatric onset. Moreover, according to WHO, cancer is a leading cause of death worldwide, accounting for nearly 10 million deaths in 2020, thus testing and screening for it becomes essential. This is where genetic testing comes in place. Restraints include stringent regulations, privacy issues, the high cost of testing, and the lack of reimbursement policies in developing countries. 

However, many countries, including Italy, and Australia have mandated the use of genetic testing for prenatal and newborn screening, which increases the market growth. Increasing healthcare access and rise in disposable income in developing countries, the rising popularity of genetic testing and technological advancements present growth opportunities for Genetic Testing-based treatments.

Market Key Developments

• In Jan 2024, To more accurately account for a clearer picture of human genomic variation, Thermo Fisher Scientific has launched the new Axiom™ PangenomiX Array*, its largest and most ethnically diverse array to date, offering optimal genetic coverage for population scale disease studies and pharmacogenomic research.
• In Apr 2024, Bio-Rad Laboratories Inc., announced the launch of its first ultrasensitive multiplexed digital PCR assay, the ddPLEX ESR1 (Breast Cancer) Mutation Detection Kit. The assay expands the company’s Droplet Digital PCR usage kits.
• In May 2020, Myriad Genetics, Inc. announced that the FDA had approved BRACAnalysis CDx for use as a companion diagnostic test by healthcare professionals to identify patients with metastatic pancreatic cancer who have a germline BRCA mutation and are candidates for treatment with PARP (poly ADP ribose polymerase) inhibitor Lynparza (olaparib).