The Genetic Testing Market is expected to grow at a CAGR of 11.6% from 2022–2029 to reach $43.3 billion by 2029. Genetic testing involves the analysis of chromosomes, proteins, and certain metabolites to detect heritable disease-related genotypes, mutations, phenotypes, or karyotypes for clinical purposes. Genetic testing can be done for various purposes, including diagnostic testing, prenatal testing, newborn screening, carrier testing, and preimplantation genetic diagnosis, among others. They are usually done using high throughput sequencing technology like next-generation sequencing.
Currently, a growing number of tests are being developed to analyze multiple genes that may increase or decrease a person’s risk of diseases, such as cancer or diabetes. Such tests and other applications of genomic technologies have the potential to help prevent common diseases and improve the health of individuals and populations.
The growth of this market is attributed to factors such as favorable government initiatives for promoting genetic testing, increasing prevalence of genetic disorders, increased need for early disease detection & prevention, increasing applications of genetic testing in oncology, and decreasing cost of sequencing procedures. In addition, the growing scenario of genetic direct-to-consumer genetic testing and the emerging field of genetic counseling are expected to provide significant growth opportunities for this market.
However, the factors such as the high cost of genetic testing and the social & ethical implications of genetic testing are restraining the growth of this market to a notable extent. In addition, factors such as the low chances of positive, actionable mutations and genetic data privacy & security concerns are the major challenges to the growth of this market.

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The Impact of COVID-19 on the Genetic Testing Market
The outbreak of COVID-19 in March 2020 was a public health crisis and led to nationwide lockdowns and restrictions in many countries worldwide. The majority of the health services & resources were diverted to prioritizing COVID-19. Similarly, laboratory resources and skilled personnel for genetic and genomic testing were directed toward fighting the COVID-19 pandemic. The volume of genetic testing decreased during the pandemic due to growing cases of infections due to its variants like Delta and Omicron. The pandemic negatively impacted the demand for genetic testing due to the prioritization of healthcare resources for COVID-19.
The stringent lockdowns and restrictions led to supply chain disruption leading to delays in delivering the laboratory reagents and equipment. These factors impacted the growth of the market to a certain extent; however, the market is gaining traction as the situation is normalizing. Countries around the world enhanced their genomics capabilities during the pandemic to identify the spread of the virus. The COVID-19 pandemic has increased the adoption of advanced technologies such as NGS for various applications, including epidemiology, metagenomic analysis, and diagnostics. The widespread adoption of enhanced genomic technologies by many countries around the world offers a great opportunity for the genetic testing market.
Increased Genetic Testing in Oncology to Drive Market Growth
Cancer is a genome disease, and major strides have been made in understanding and treating this heterogeneous collection of diseases. This comprises the initial identification of oncogenes and tumor suppressor genes for the development of the first generation of targeted therapies, culminating in the full annotation of the genomic landscape of the most common cancer types.
The global prevalence of cancer is expected to increase from 19.2 million new cases in 2020 to 24.0 million new cases in 2030, as per International Agency for Research on Cancer. Also, the mortalities from cancer are expected to increase from 9.9 million deaths in 2020 to 12.9 million deaths in 2030. Oncology biomarkers can provide affordable, reliable, accurate, non-invasive, and sensitive information to help effectively manage cancer. Early cancer detection can lead to positive results.
Sequencing technologies like NGS are increasingly used for genetic profiling in targeted cancer therapy applications due to the decreasing costs and turnaround time of NGS, improvements in bioinformatics analyses, and the harmonization of the knowledge base to facilitate the clinical interpretation of genetic results.
Growing Direct-to-consumer Genetic Testing to Offer Growth Opportunities for the Market
Direct-to-consumer genetic testing (DCGT) allows individuals to gain a deeper understanding of their genetic information without involving their physicians. The major factor for the growth in this area is consumer awareness of the links between genetics and diseases, which enhance the evolution of patients' health and precision medicine designed around individual genetic profiles. For accurate genetic testing, companies are working to improve the detection of carrier status and ease of consumer use.
In recent years, the number of DTC genetic tests performed has increased significantly and is expected to show strong growth in the future. Moreover, growing consumer use and subsequent follow-up with healthcare providers and insurers can be further anticipated to propel the growth of DTC genetic testing.
Key Findings of the Genetic testing market Study:
In 2022, the Consumables & Reagents Segment to Dominate Genetic Testing Market
Based on product, the genetic testing market is segmented into consumables & reagents, instruments, and services. In 2022, the consumables & reagents segment is estimated to account for the largest share of the genetic testing market. The large share of this segment is attributed to factors such as the recurring purchase of reagents and kits, new launches of kits & reagents, and increased demand for clinical diagnostics tests for diagnostic testing, prenatal testing, newborn screening, preimplantation testing, and other applications.
In 2022, the Disease Diagnostics Segment is Estimated to Account for the Largest Share of the Genetic Testing Market
Based on test type, the genetic testing market is segmented into diagnostic testing, prenatal testing, carrier testing, newborn screening, preimplantation testing, and other test types. In 2022, the disease diagnostics segment is estimated to account for the largest share of the genetic testing market. Genetic diagnostic testing is used to diagnose or rule out a specific genetic or chromosomal condition. The large share of this segment is attributed to factors such as the increased prevalence of various chronic and rare genetic diseases, high demand for early disease diagnosis and treatment, and rapid technological developments in genetic diagnostic testing.
In 2022, the Molecular Tests Segment is Estimated to Account for the Largest Share of the Genetic Testing Market
Based on method, the genetic testing market is segmented into molecular tests, chromosomal tests, and biochemical tests. In 2022, the molecular tests segment is estimated to account for the largest share of the genetic testing market. Molecular tests vary in scope and include targeted single variant, single gene, gene panel, and whole exome sequencing/whole genome sequencing. The large market share of this segment is attributed to factors such as advancements in technology and the ability to perform sequencing at single nucleotide resolution with cheaper, faster, and with the utmost accuracy by using whole genome sequencing (WGS) and whole exome sequencing (WES) technology.
In 2022, the Hospitals & Clinics Segment is Estimated to Account for the Largest Share of the Genetic Testing Market
Based on end user, the genetic testing market is segmented into hospitals & clinics, diagnostic laboratories, academic & research institutes, and other end users. In 2022, the hospitals & clinics segment is estimated to account for the largest share of the genetic testing market. The large share of this segment is attributed to factors such as the increased utilization of advanced sequencing technologies in hospitals, increased rate of hospitalizations, increased patient preference for genomic testing, and high healthcare spending in major countries.
Asia-Pacific: The Fastest-growing Market
Asia-Pacific is slated to register the highest growth rate in the genetic testing market during the forecast period. The high market growth in Asia-Pacific is attributed to the advancing healthcare infrastructure in the region, a large patient pool coupled with the growing adoption of advanced genomics technologies, the growing prevalence of various chronic diseases, and the increasing affordability of genomic testing.
Key Players
The report includes a competitive landscape based on an extensive assessment of product portfolio, test type, method, end user, geographic presence, and the key growth strategies adopted by leading market players in the industry over the past four years.
The key players profiled in the genetic testing market are Illumina, Inc. (U.S.), Thermo Fisher Scientific Inc. (U.S.), Quest Diagnostics Incorporated (U.S.), Eurofins Scientific SE (Luxembourg), 23andMe, Inc. (U.S.), Foundation Medicine, Inc. (U.S.) (Subsidiary of Roche Holding AG), Rosetta Genomics Ltd. (U.S.), OPKO Health Inc. (U.S.), Natera, Inc. (U.S.), PerkinElmer, Inc. (U.S.), Myriad Genetics, Inc. (U.S.), Laboratory Corporation of America Holdings (U.S.) and Invitae Corporation (U.S.).
Scope of the Report:
Genetic Testing Market, by Product & Service
- Consumables & Reagents
- Instruments
- Services
Genetic Testing Market, by Test Type
- Diagnostic Testing
- Prenatal Testing
- Carrier Testing
- Newborn Screening
- Preimplantation Testing
- Other Test Types
(Other test types include forensic testing, microorganism genomics, and posthumous (testing of post-mortem tissues etc.)
Genetic Testing Market, by Method
- Molecular Tests
- Chromosomal Tests
- Biochemical Tests
Genetic Testing Market, by End User
- Hospitals & Clinics
- Diagnostic Laboratories
- Academic & Research Institutes
- Others End Users
(Other end users include contract research organizations, forensic laboratories, pharma & biotech companies, government laboratories, etc.)
Genetic Testing Market, by Geography
- North America
- Europe
- Germany
- France
- U.K.
- Italy
- Spain
- Rest of Europe (RoE)
- Asia-Pacific
- China
- Japan
- India
- Rest of APAC (RoAPAC)
- Latin America
- Middle East & Africa
Key questions answered in the report: