Genetic Testing Market: By Test, By Application, By Sample Type, By End-user and Region

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

The genetic testing market size was valued at US$ 12,253.8 million in 2023 and is poised to grow at a CAGR of 11.7% from 2024-2030. 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. 

Genetic Testing Market

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).

Global Genetic Testing Market Summary

Study Period

2024-2030

Base Year

2023

CAGR

11.7%

Largest Market

North America

Fastest Growing Market

Europe

Genetic Testing Market Dynamics

According to the World Economic Forum, Collectively, about 350 million people worldwide suffer from rare diseases, Around 80% of rare diseases have a genetic cause, almost 70% of which present in childhood. All these can be screened using genetic testing and can be treated using gene therapies. The rising number of genetic conditions is a prime factor fuelling the demand for Genetic Testing. Additionally, Technological advancements in genetic testing include the development of next-generation sequencing and chromosomal microarray analysis, which transforms the determination of structural and numerical abnormalities in chromosomes and, in turn, leads to the detection of various rare genomic and genetic disorders and acts as a main driver for the market.

Next-generation sequencing (NGS) and CRISPR have evolved as a powerful tool for providing a deeper and more precise insight into the molecular underpinnings of individual tumours and specific receptors. One of the big drivers of this market is precision medicine or personalized medicine. In 2020, more than 250 personalized medicines were approved and available in the market. Thus, all the companies compete to provide the facility to avail genetic testing which increases the shift of treatment towards personalized medicine.

Global Genetic Testing Market Segmentation Analysis

Report Benchmarks

Details

Report Study Period

2024-2030

Market Size in 2023

US$ 12,253.8 million

Market CAGR

11.7%

By Test Type

  • Cytogenetic Testing
  • Biochemical Testing
  • Molecular Testing

By Sample

  • Blood
  • Hair
  • Saliva
  • Others

By Application

  • Predictive and Presymptomatic Testing
  • Carrier Testing
  • Prenatal and Newborn Screening
  • Pharmacogenomic Testing
  • Cancer Screening
  • Forensic
  • Others

By End User

  • Hospitals
  • Diagnostic Laboratories
  • Academic and Research Institutes

By Region

  • North America
  • Europe
  • Asia Pacific
  • Middle East and Africa
  • Latin America

Key Features of the Report

  • The genetic testing market report provides granular level information about the market size, regional market share, historic market (2019-2023), and forecast (2024-2030)
  • The report covers in-detail insights about the competitor’s overview, company share analysis, key market developments, and their key strategies
  • The report outlines drivers, restraints, unmet needs, and trends that are currently affecting the market
  • The report tracks recent innovations, key developments, and start-up details that are actively working in the market
  • The report provides a plethora of information about market entry strategies, regulatory framework, and reimbursement scenario
  • The report analyses the impact of the socio-political environment through PESTLE Analysis and competition through Porter's Five Force Analysis in addition to recent technology advancements and innovations in the market

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Frequently Asked Questions

The global genetic testing market size was valued at US$ 12,253.8 million in 2023 and is poised to grow at a CAGR of 11.7% from 2024-2030.

The major key players operating in the genetic testing market are 10X Genomics, Inc., Quest Diagnostics Incorporated, QIAGEN N.V., Myriad Genetics Inc., Bio-Rad Laboratories Inc. Hoffmann-La Roche Ltd, Eurofins Scientific, Blueprint Genetics, Illumina Inc., BGI Genomics, PerkinElmer Inc., Abbott Laboratories, Thermo Fisher Scientific Inc.

North America is the fastest-growing region for genetic testing market

The primary driver is the demand for Genetic Testing in the prevalence of diseases like cancer and rare diseases coupled with newborn screening and the rise in precision medicine.

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Author

Muni Kumar Meravath

Muni Kumar Meravath is a seasoned Healthcare Market Research Analyst with over 6 years of experience in the healthc.....

1.Executive Summary
2.Global Genetic Testing Market Introduction 
2.1.Global Genetic Testing Market  - Taxonomy
2.2.Global Genetic Testing Market  - Definitions
2.2.1.Test Type 
2.2.2.Sample
2.2.3.Application
2.2.4.End User
2.2.5.Region
3.Global Genetic Testing Market Dynamics
3.1. Drivers
3.2. Restraints
3.3. Opportunities/Unmet Needs of the Market
3.4. Trends
3.5. Product Landscape
3.6. New Product Launches
3.7. Impact of COVID 19 on Market
4.Global Genetic Testing Market Analysis, 2019 - 2023 and Forecast 2024 - 2030
4.1.  Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
4.2.  Year-Over-Year (Y-o-Y) Growth Analysis (%) 
4.3.  Market Opportunity Analysis 
5.Global Genetic Testing Market  By Test Type , 2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
5.1. Cytogenetic Testing
5.1.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
5.1.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
5.1.3. Market Opportunity Analysis 
5.2. Biochemical Testing
5.2.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
5.2.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
5.2.3. Market Opportunity Analysis 
5.3. Molecular Testing
5.3.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
5.3.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
5.3.3. Market Opportunity Analysis 
6.Global Genetic Testing Market  By Sample, 2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
6.1. Blood
6.1.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
6.1.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
6.1.3. Market Opportunity Analysis 
6.2. Hair
6.2.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
6.2.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
6.2.3. Market Opportunity Analysis 
6.3. Saliva
6.3.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
6.3.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
6.3.3. Market Opportunity Analysis 
6.4. Others
6.4.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
6.4.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
6.4.3. Market Opportunity Analysis 
7.Global Genetic Testing Market  By Application, 2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
7.1. Predictive and Presymptomatic Testing
7.1.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.1.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.1.3. Market Opportunity Analysis 
7.2. Carrier Testing
7.2.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.2.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.2.3. Market Opportunity Analysis 
7.3. Prenatal and Newborn Screening
7.3.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.3.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.3.3. Market Opportunity Analysis 
7.4. Pharmacogenomic Testing
7.4.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.4.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.4.3. Market Opportunity Analysis 
7.5. Cancer Screening
7.5.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.5.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.5.3. Market Opportunity Analysis 
7.6. Forensic
7.6.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.6.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.6.3. Market Opportunity Analysis 
7.7. Others
7.7.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
7.7.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
7.7.3. Market Opportunity Analysis 
8.Global Genetic Testing Market  By End User, 2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
8.1. Hospitals
8.1.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
8.1.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
8.1.3. Market Opportunity Analysis 
8.2. Diagnostic Laboratories
8.2.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
8.2.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
8.2.3. Market Opportunity Analysis 
8.3. Academic and Research Institutes
8.3.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
8.3.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
8.3.3. Market Opportunity Analysis 
9.Global Genetic Testing Market  By Region, 2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
9.1. North America
9.1.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
9.1.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
9.1.3. Market Opportunity Analysis 
9.2. Europe
9.2.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
9.2.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
9.2.3. Market Opportunity Analysis 
9.3. Asia Pacific (APAC)
9.3.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
9.3.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
9.3.3. Market Opportunity Analysis 
9.4. Middle East and Africa (MEA)
9.4.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
9.4.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
9.4.3. Market Opportunity Analysis 
9.5. Latin America
9.5.1. Market Analysis, 2019 - 2023 and Forecast, 2024 - 2030, (Sales Value USD Million)
9.5.2. Year-Over-Year (Y-o-Y) Growth Analysis (%) and Market Share Analysis (%) 
9.5.3. Market Opportunity Analysis 
10.North America Genetic Testing Market ,2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
10.1. Test Type  Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
10.1.1.Cytogenetic Testing
10.1.2.Biochemical Testing
10.1.3.Molecular Testing
10.2.  Sample Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
10.2.1.Blood
10.2.2.Hair
10.2.3.Saliva
10.2.4.Others
10.3.  Application Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
10.3.1.Predictive and Presymptomatic Testing
10.3.2.Carrier Testing
10.3.3.Prenatal and Newborn Screening
10.3.4.Pharmacogenomic Testing
10.3.5.Cancer Screening
10.3.6.Forensic
10.3.7.Others
10.4.  End User Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
10.4.1.Hospitals
10.4.2.Diagnostic Laboratories
10.4.3.Academic and Research Institutes
10.5.  Country Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
10.5.1.United States of America (USA)
10.5.2.Canada
11.Europe Genetic Testing Market ,2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
11.1. Test Type  Analysis  and Forecast  by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
11.1.1.Cytogenetic Testing
11.1.2.Biochemical Testing
11.1.3.Molecular Testing
11.2.  Sample Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
11.2.1.Blood
11.2.2.Hair
11.2.3.Saliva
11.2.4.Others
11.3.  Application Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
11.3.1.Predictive and Presymptomatic Testing
11.3.2.Carrier Testing
11.3.3.Prenatal and Newborn Screening
11.3.4.Pharmacogenomic Testing
11.3.5.Cancer Screening
11.3.6.Forensic
11.3.7.Others
11.4.  End User Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
11.4.1.Hospitals
11.4.2.Diagnostic Laboratories
11.4.3.Academic and Research Institutes
11.5.  Country Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
11.5.1.Germany
11.5.2.France
11.5.3.Italy
11.5.4.United Kingdom (UK)
11.5.5.Spain
12.Asia Pacific (APAC) Genetic Testing Market ,2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
12.1. Test Type  Analysis  and Forecast  by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
12.1.1.Cytogenetic Testing
12.1.2.Biochemical Testing
12.1.3.Molecular Testing
12.2.  Sample Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
12.2.1.Blood
12.2.2.Hair
12.2.3.Saliva
12.2.4.Others
12.3.  Application Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
12.3.1.Predictive and Presymptomatic Testing
12.3.2.Carrier Testing
12.3.3.Prenatal and Newborn Screening
12.3.4.Pharmacogenomic Testing
12.3.5.Cancer Screening
12.3.6.Forensic
12.3.7.Others
12.4.  End User Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
12.4.1.Hospitals
12.4.2.Diagnostic Laboratories
12.4.3.Academic and Research Institutes
12.5.  Country Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
12.5.1.China
12.5.2.India
12.5.3.Australia and New Zealand (ANZ)
12.5.4.Japan
12.5.5.Rest of APAC
13.Middle East and Africa (MEA) Genetic Testing Market ,2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
13.1. Test Type  Analysis  and Forecast  by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
13.1.1.Cytogenetic Testing
13.1.2.Biochemical Testing
13.1.3.Molecular Testing
13.2.  Sample Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
13.2.1.Blood
13.2.2.Hair
13.2.3.Saliva
13.2.4.Others
13.3.  Application Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
13.3.1.Predictive and Presymptomatic Testing
13.3.2.Carrier Testing
13.3.3.Prenatal and Newborn Screening
13.3.4.Pharmacogenomic Testing
13.3.5.Cancer Screening
13.3.6.Forensic
13.3.7.Others
13.4.  End User Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
13.4.1.Hospitals
13.4.2.Diagnostic Laboratories
13.4.3.Academic and Research Institutes
13.5.  Country Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
13.5.1.GCC Countries
13.5.2.South Africa
13.5.3.Rest of MEA
14.Latin America Genetic Testing Market ,2019 - 2023 and Forecast 2024 - 2030 (Sales Value USD Million)
14.1. Test Type  Analysis  and Forecast  by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
14.1.1.Cytogenetic Testing
14.1.2.Biochemical Testing
14.1.3.Molecular Testing
14.2.  Sample Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
14.2.1.Blood
14.2.2.Hair
14.2.3.Saliva
14.2.4.Others
14.3.  Application Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
14.3.1.Predictive and Presymptomatic Testing
14.3.2.Carrier Testing
14.3.3.Prenatal and Newborn Screening
14.3.4.Pharmacogenomic Testing
14.3.5.Cancer Screening
14.3.6.Forensic
14.3.7.Others
14.4.  End User Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
14.4.1.Hospitals
14.4.2.Diagnostic Laboratories
14.4.3.Academic and Research Institutes
14.5.  Country Analysis 2019 - 2023 and Forecast 2024 - 2030 by Sales Value USD Million, Y-o-Y Growth (%), and Market Share (%) 
14.5.1.Brazil
14.5.2.Mexico
14.5.3.Rest of LA
15. Competition Landscape
15.1.  Market Player Profiles (Introduction, Brand/Product Sales, Financial Analysis, Product Offerings, Key Developments, Collaborations, M & A, Strategies, and SWOT Analysis) 
15.2.1.Agilent Technologies
15.2.2.PerkinElmer, Inc.
15.2.3.Thermo Fisher Scientific
15.2.4.Bio-Rad Laboratories
15.2.5.F. Hoffman La Roche Limited
15.2.6.Qiagen N.V.
15.2.7.Abbott Molecular
15.2.8.Becton, Dickinson and Company
15.2.9.Hologic, lnc
15.2.10.Biomerieux
15.2.11.Illumina
15.2.12.Diasorin
16. Research Methodology 
17. Appendix and Abbreviations 

Key Market Players

  • Agilent Technologies
  • PerkinElmer, Inc.
  • Thermo Fisher Scientific
  • Bio-Rad Laboratories
  • F. Hoffman La Roche Limited
  • Qiagen N.V.
  • Abbott Molecular
  • Becton, Dickinson and Company
  • Hologic, lnc
  • Biomerieux
  • Illumina
  • Diasorin
  • Quidel Corporation
  • Danaher Corporation

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