The global hereditary testing market size was valued at USD 7.56 billion in 2024 and is expected to grow from USD 8.23 billion in 2025 to USD 17.58 billion by 2033, growing at a CAGR of 8.8% during the forecast period (2025-2033).
Factors such as increasing sales and demand for DNA Test Kits, significantly drives the hereditary testing market demand by 2033
Hereditary genes are passed down to children or are inheritable from parents. Hereditary testing searches a person's genome for particular hereditary variations (variants). Genetic variations may affect a person's chance of contracting a disease in harmful, advantageous, neutral (have no effect), or unknown or ambiguous ways. Hereditary tests, which can also confirm or rule out a suspected genetic disorder, can be used to estimate a person's chance of developing or passing on a genetic disease.
Even when an inherited variation does not bring on cancer, it can occasionally seem to "run in families." However, the presence of a hereditary propensity to acquire cancer may be suggested by certain patterns observed in family members, including the types of cancer that manifest, various non-cancer illnesses, and the ages at which cancer frequently manifests. There are genes linked to many identified inherited illnesses.
Examining if a person has a harmful mutation in one of these genes makes it feasible to assess whether a disorder results from an inherited syndrome. When a family member is known to carry a detrimental mutation, genetic testing is also conducted to see if other family members who have not (yet) developed cancer have inherited the same variant.
DNA testing kit sales have risen due to the steady demand for newborn screening.
Key players have started advanced tests to maintain market competition and meet high demand. Ariosa Diagnostics, Sequenom, Natera, and Verinata Health (acquired by Illumina) are key players offering Non-invasive Prenatal Testing (NIPT) platforms in the U.S. The novel platforms utilize sequencing technologies, PCR, and proprietary algorithms to analyze Cell-free Fetal DNA (cffDNA) to detect chromosomal aneuploidies, such as Down's syndrome, Edwards' syndrome, and Patau syndrome. Other players, such as Ravgen, Cellular Research, and TrovaGene, have developed NIPT for chromosomal aneuploidies, driving the market growth.
According to National Human Genome Research Institute (NHGRI), genome sequencing costs have been reduced by thousands of dollars over the past two decades, from USD 95,263,072 per genome in 2001 to USD 942 per genome in 2019. This has increased the adoption of genetic sequencing for early diagnosis and treatment of several disorders, including cancer and genetic variations of neurological conditions, cardiac disorders, and cystic fibrosis.
The National Institutes of Health (NIH) developed Genetic Testing Registry (GTR) to enhance access to information on genetic tests. GTR is an online resource launched to centralize comprehensive information regarding genetic tests conducted across the globe. This initiative helped increase access to genetic information for pharmacogenetic tests and germline variations, subsequently increasing understanding of the importance of hereditary testing to prevent clinical disorders and further boost hereditary testing market growth.
Ethical issues concerning the safety of in vitro fertilization and Preimplantation genetic diagnosis (PGD) are expected to hamper the market growth. PGD is morally unacceptable to several people and cultures as it is considered unnatural creation and involves the destruction of human embryos. Application of these tests for sex selection on nonmedical backgrounds is prohibited in several countries, which is expected to restrain application demand and market growth.
Furthermore, high implementation and procurement costs are major restraints for market growth in developing economies. The absence of an appropriate framework for insurance coverage and the accessibility of these tests are other factors expected to restrain growth. Miscoding, overbilling, and subsequent overpayment for genetic tests by insurance providers are further expected to hamper the market growth.
NIPT using cffDNA circulating in maternal blood can help detect common fetal trisomies, such as Down's syndrome, fetal Rhesus D status, and sex chromosome disorders. NGS-enabled clinical applications have witnessed considerable uptake over the past two years. The use of invasive procedures, such as amniocentesis and chorionic villus sampling, has declined over recent years, as non-invasive procedures are steadily being offered routinely at major treatment centers to all women with a high probability of having fetal genetic defects.
NIPTs can be more accurate than current first-trimester screenings, resulting in fewer false positives, consequently reducing the number of invasive amniocenteses performed. Ongoing research can help expand the range of conditions detected through non-invasive means, including duplication/microdeletion syndromes and Mendelian genetic disorders. The use of test results for informed decision-making is expected to drive their adoption rate, creating hereditary testing market growth opportunities over the coming years.
| Study Period | 2021-2033 | CAGR | 8.8% |
| Historical Period | 2021-2023 | Forecast Period | 2025-2033 |
| Base Year | 2024 | Base Year Market Size | USD 7.56 Billion |
| Forecast Year | 2033 | Forecast Year Market Size | USD 17.58 Billion |
| Largest Market | Europe | Fastest Growing Market | North America |
Europe is the most significant global hereditary testing market shareholder and is estimated to exhibit a CAGR of 8.2% during the forecast period.The presence of several supportive programs or projects—initiated by both public and private entities—to improve access to genetic testing in European countries results in the region's leading share in the market. The EuroGentest2 project, funded by European Commission, streamlines the process of genetic testing and enhances the quality of genetic services. The Council of Europe focuses on ethical and legal issues caused by the application of genetic testing and protects fundamental human rights to access them. The presence of public agency projects that promote safe and accurate genetic testing across Europe is expected to boost demand for hereditary testing.
In addition, the presence of several key companies that provide hereditary testing solutions additionally contributes to the leading share of Europe. Growth initiatives are undertaken by key vendors to improve the adoption of hereditary testing in Europe, supplementing the market's revenue.
North America is estimated to exhibit a CAGR of 8.9% over the forecast period. North America contributed to a substantial revenue share, owing to key vendors' continuous development of hereditary genetic testing solutions.
In Asia-Pacific, the market for hereditary testing is expected to grow due to factors such as rising fertility rates, the prevalence of inherited genetic diseases, the expansion of the healthcare system, and rising public awareness of the advantages of newborn and prenatal screening. The high birth rates of several developing economies in the region are responsible for an increase in several congenital disabilities and genetic diseases in infants. As per ESCAP Online Statistical Database, 2018, Asia-Pacific's crude birth rate (births per 1,000 population) was 16.0 in 2018. These factors will likely create a cumulative demand for newborn and prenatal genetic testing across Asia, which is expected to boost market growth.
In addition, several internationally established companies have expanded their hereditary testing product offerings in this region due to a large customer base and untapped market opportunities.
The Latin American hereditary testing market is anticipated to develop at a lucrative rate over the forecast period. Latin America has the most genetically admixed population in the world, and its combinations of genetic ancestries have hugely impacted on genomic determinants of several genetic diseases. Among these diseases, breast cancer is Latin America's most common malignancy and the prominent cause of cancer-related mortality. A network of collaborators and cancer specialists have combined to establish a Latin American consortium for HBOC-LACAM to combat this. This study involves the investigation of genetic susceptibility to breast cancer in Latin America, focusing mainly on inherited cases. It gathers researchers from Colombia, Guatemala, Argentina, Peru, and Mexico to study hereditary breast cancer cases.
In order to improve intervention strategies, prevention, and risk management for the Latin American population affected by this disease, results from the LACAM study can provide detailed scientific evidence on the molecular epidemiology of inherited breast cancer. The presence of several distributors in this region increases access to genetic screening for hereditary disorders.
In the Middle East and Africa, the increasing availability of several hereditary testing solutions through distributors and technology partners is expected to boost hereditary testing market growth.
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The global hereditary testing market is bifurcated into hereditary cancer testing and hereditary non-cancer testing. The hereditary non-cancer testing segment dominates the global market and is projected to exhibit a CAGR of 9.02% over the forecast period. Government and regulatory bodies are playing an active role in expanding the reach of genetic tests to patients and healthcare systems, thereby boosting segment growth. The hereditary non-cancer testing segment is further bifurcated into the following segments: genetic tests, preimplantation genetic diagnosis and screening, newborn genetic screening, and non-invasive prenatal testing (NIPT) and carrier screening tests. In addition, in October 2018, StemCyte, a regenerative therapeutics company, partnered with Fulgent Genetics to offer genetic testing services. Under the partnership, the former company would offer Beacon Expanded Carrier Screening and Newborn Genetic Analysis.
Additionally, the entry of companies from other healthcare fields into genetic testing indicates the growing importance of these tests. As a result, companies establish mutually beneficial partnerships with key technology developers to advance their testing portfolio. For example, in October 2017, CENTOGENE AG, a German-based company that offered genetic diagnostics for rare diseases, collaborated with QIAGEN to offer its customers complete Sample to Insight research and clinical testing solutions for rare genetic diseases. This collaboration further aided in assessing hereditary disorders by integrating clinical and genomic databases.
Inheritance is a factor in 10%–20% of common cancers. Many CLIA-certified laboratories perform tests using blood, saliva, or tumor tissue samples to determine whether an individual carries an inherited mutated gene that can cause cancer. Genetic testing for individuals already diagnosed with cancer can help determine if their cancer was caused due to an inherited mutation. The most common inherited cancer forms include breast, ovarian, prostate, and colorectal cancers. Genetic testing for these cancers accounts for a major share in volume and revenue. In addition, significant factors contributing to the dominance of this segment include increased heritability, high penetration of products, and increased disease prevalence. The hereditary cancer testing segment is further sub-segmented into the following tests: lung cancer, breast cancer, colorectal cancer, cervical cancer, ovarian cancer, melanoma, prostate cancer, stomach/gastric cancer, sarcoma, uterine cancer, pancreatic cancer, and others.
