PUBLISHER: Grand View Research | PRODUCT CODE: 1888745
PUBLISHER: Grand View Research | PRODUCT CODE: 1888745
The global genetic disease diagnostics market size was estimated at USD 11.71 billion in 2024 and is projected to reach USD 57.83 billion by 2033, growing at a CAGR of 19.1% from 2025 to 2033. The market is primarily driven by technological advancements, increasing demand for personalized medicine, and growing demand for newborn screening..
Genetic testing in maternity care is undergoing a major transformation, driven by advancements in carrier screening, non-invasive prenatal testing (NIPT), and IVF-related genetic analyses. These innovations are fueling consistent market growth, especially across both established and emerging economies.
Pharmacogenomics testing is increasingly vital in helping clinicians choose the most effective medications and appropriate dosages for patients. The Association for Molecular Pathology (AMP) has made strides toward standardizing these tests across laboratories. In August 2022, the AMP released recommendations for designing and validating clinical genotyping assays for genes like NUDT15 and TPMT. These guidelines provide a minimum set of alleles for laboratories to identify patients who may be at a higher risk of thiopurine toxicity, thereby improving treatment safety and efficacy.
The introduction of new tests that can considerably reduce treatment costs and help lower pharmaceutical expenses by preventing overprescription and excessive dosing, while also reducing the risk of complications and hospitalizations resulting from adverse drug reactions, is expected to impact market growth positively. For instance, in October 2025, AIG Hospitals, a Hyderabad (India) based hospital, in collaboration with GenepowerRx, launched a pharmacogenomics test that would help doctors to prescribe medicines or decide on a treatment plan based on the patient's genetic makeup.
Driven primarily by advancements in Next-Generation Sequencing (NGS) technology, WGS costs are falling toward the sub-USD 100 threshold. Many companies have launched new tests based on next-generation sequencing (NGS), whole-genome sequencing, and advanced array technologies, offering higher accuracy, coverage, and rapid results. For instance, CENTOGENE launched CentoGenome Ultra-Fast, a whole-genome sequencing tool for diagnosing genetic diseases in five business days. Rapid diagnosis and early intervention facilitate timely treatment, which in turn improves patient outcomes and reduces complications in emergency cases and the ICU.
Despite these advancements, the high cost of the test may impede market growth in developing countries. Depending on the test's complexity, costs can range from under $100 to over $2,000, with higher costs associated with tests that require multiple family samples. Results may also take weeks to arrive. In some instances, health insurance covers these tests when prescribed by a medical professional, but coverage varies widely across insurers and policies.
Global Genetic Disease Diagnostics Market Report Segmentation
This report forecasts revenue growth at global, regional & country levels and provides an analysis of the industry trends in each of the sub-segments from 2021 to 2033. For this study, Grand View Research has segmented the global genetic disease diagnostics market report based on technology, application, product, channel, end use, and region: