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2023

Genetic Testing Market

Genetic Testing Market Size, Share, Competitive Landscape and Trend Analysis Report by Type, by Technology, by Application : Global Opportunity Analysis and Industry Forecast, 2023-2032

LS : Diagnostics and Biotech

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Author's: Tanjeem Ismail Shaikh | Roshan Deshmukh
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Genetic Testing Market Outlook, 2032

The global genetic testing market size was valued at $15.5 billion in 2022, and is projected to reach $40.9 billion by 2032, growing at a CAGR of 10.2% from 2023 to 2032. Growth of the global genetic testing market is majorly driven by rise in prevalence of genetic diseases, increase in number of populations suffering from cancer, and rise in adoption of genetic testing by healthcare providers for disease diagnosis. Moreover, genetic disorders are caused by abnormalities in the gene or chromosome. All the pregnancies involve some risk of genetic abnormalities in the newborn babies. Some of the inborn defects result from certain drugs or alcohol, family history, folate deficiency, and geographic location. Rise in the prevalence of genetic disorders among newborn babies has led to rise in the genetic screening which, in turn, increases the demand for newborn genetic testing devices.

Genetic Testing Market

Key Takeaways

  • By type, the prenatal & newborn testing segment dominated the market in 2022.
  • By technology, the molecular testing segment dominated the market in 2022.
  • By application, the genetic disease diagnosis segment dominated the market in 2022.
  • By region, North America dominated the market in 2022 and is expected to grow during the forecast period.

Genetic testing, also known as DNA testing or genetic analysis, is a medical and scientific procedure that involves the examination and analysis of an individual's DNA (deoxyribonucleic acid) to gain insights into the individual’s genetic makeup and genetic information. Genetic testing can reveal specific genetic variations, mutations, or alterations within an individual's genome, providing information about their genetic predispositions, inherited traits, risk of certain diseases, and more. Genetic testing is conducted for various purposes, including diagnosing genetic disorders, assessing disease risk, identifying carrier status for inherited conditions, understanding ancestry and genealogy, and guiding personalized medical treatments. Genetic testing typically involves the analysis of a sample of genetic material, such as blood, saliva, buccal swabs, or tissue samples, to examine the individual's DNA.

Market Dynamics

Genetic testing such as prenatal and newborn testing are used for detecting various diseases including thalassemia, Down’s syndrome, and cystic fibrosis. Thus, rise in number of genetic diseases is anticipated to fuel the demand for genetic tests and boost the growth of market. For instance, according to data published by United Nations on World Down Syndrome Day 21 March 2022, states that approximately 3,000 to 5,000 children are born with Down syndrome each year. In addition, according to Indian Academy of Thalassemia 2021, it states that in India, about 15,000 children are born with thalassemia which accounts for approximately 10% of the total world incidences of thalassemia-affected children. Rise in prevalence of genetic disorders are expected to propel the growth of the market during forecast period.

Genetic testing helps to estimate the chance of developing cancer. It does this by searching for specific changes in the genes, chromosomes, or proteins. These changes are called mutations. Genetic tests are available for some types of cancer. These include breast cancer, ovarian cancer, colon cancer, thyroid cancer, prostate cancer, pancreatic cancer, melanoma, sarcoma, kidney cancer, and stomach cancer. Thus, rise in prevalence of cancer is anticipated to boost the growth of market. For instance, according to American Cancer Society, in 2022, there will be an estimated 1.9 million new cancer cases diagnosed and 609,360 cancer deaths in the U.S. Thus, increase in number of cancer cases is anticipated to boost the demand for genetic testing and drives the growth of market.

Moreover, availability of different genetic testing for cancer detection is expected to fuel the growth of genetic testing market. For instance, Angendia, biotechnology research, provides MammaPrint, a genomic test that analyzes the activity of certain genes in early-stage breast cancer. Hereditary genetic cancer tests include single mutation tests which look for changes in a specific area of a single gene. Healthcare providers typically test family members when someone in the family has a known specific genetic mutation. In addition, single gene testing and panel tests are also genetic tests used for cancer diagnosis. Thus, technological advancement and increase in adoption of genetic tests for cancer diagnosis are expected to boost the growth of market.

In addition, increase in number of genetic tests for diagnosis of diseases and research activities is anticipated to boost the growth of market. For instance, according to National Library of Medicine, as of November 2022, a total number of genetic tests performed in the U.S. are 129,624. As per the same source, 197,779 genetic tests were performed over the globe in 2022. In addition, as per the same source, it was reported that, over 90% of tests submitted to genetic testing registry are for clinical rather than research purposes. Thus, rise in adoption of genetic test for clinical diagnosis and research purpose is expected to boost the growth of market. 

On the other hand, high cost of genetic test is anticipated to restrain the growth of the market. For instance, according to National Library of Medicine, the cost of genetic testing can range from under $100 to more than $2,000, depending on the nature and complexity of the test. The cost increases if more than one test is necessary or if multiple family members must be tested to obtain a meaningful result. Thus, high-cost genetic tests and lack awareness among the people regarding genetic tests is expected to hinder the growth of market.

Segmental Overview

The genetic testing market size is segmented into type, technology, application, and region. By type, the market is categorized into predictive & pre-symptomatic testing, carrier testing, prenatal & newborn testing, diagnostic testing, pharmacogenomic testing, and others. Based on technology, it is divided into cytogenetic testing, biochemical testing, and molecular testing. Molecular testing is further classified into DNA sequencing and others. As per application, it is segmented into cancer diagnosis, genetic disease diagnosis, and others. Region wise, the market is analyzed across North America, Europe, Asia-Pacific, and LAMEA.

By Type 

The genetic testing market share is categorized into predictive & pre-symptomatic testing, carrier testing, prenatal & newborn testing, diagnostic testing, pharmacogenomic testing, and others. The prenatal & newborn testing segment dominated the market in 2022 and is expected to continue this trend during the forecast period, owing to increase in prevalence of genetic diseases in neonates and rise in adoption of genetic tests by healthcare providers for early diagnosis of neonatal genetic diseases.

Genetic Testing Market by Type

By Technology

By technology genetic testing market share is categorized into cytogenetic testing, biochemical testing, and molecular testing. Molecular testing is further classified into DNA sequencing and others. The molecular testing segment dominated the genetic testing market growth in 2022 and is expected to continue this trend during the forecast period, owing to rise in adoption of DNA sequencing and increase in technological advancements for development of molecular tests.

Genetic Testing Market by Technology

By Application

It is segmented into cancer diagnosis, genetic disease diagnosis, and others. The genetic disease diagnosis segment dominated the genetic testing market trends in 2022 and is expected to continue this trend during the forecast period, owing to increase in number of genetic disorders and rise in awareness among the population regarding genetic diseases.

Genetic Testing Market by Application

By Region 

North America genetic testing market is expected to grow during the forecast period owing to high presence of market players who manufacture genetic testing devices and increase in number of adoptions of key strategies by market players. For instance, Abbott Laboratories, Bio-Rad Laboratories, Inc., Myriad Genetics, Inc., Danaher Corporation, Illumina, Inc., Thermo Fisher Scientific, Inc., and others are major market players who manufacture genetic testing products. Moreover, market players of genetic testing devices are adopting key strategies such as business expansion, partnership, and others, which fuels the growth of market.

For instance, in April 2023, Myriad Genetics, Inc., a leader in genetic testing and precision medicine, and SimonMed Imaging, one of the largest independent outpatient medical imaging providers and physician radiology practices in the U.S. announced the planned launch of a new hereditary cancer assessment program that combines diagnostic imaging, genetic risk assessment utilizing MyRisk with RiskScore and patient education. Leveraging a custom-built Myriad tool developed in collaboration with SimonMed, the program is expected to enable affordable access to genetic testing and deliver personalized insights to better inform clinical decisions for the millions of patients and families served at SimonMed.

Moreover, in November 2022, Myriad Genetics, Inc., a leader in genetic testing and precision medicine, announced that it has acquired Gateway Genomics, LLC, a personal genomics company and developer of consumer genetic tests including the No. 1 selling SneakPeek Early Gender DNA Test. SneakPeek reveals a baby’s gender at six weeks into pregnancy, the only at-home test to do so with 99% accuracy and the earliest method available. Thus, availability of technologically advanced genetic tests and developed healthcare infrastructure in North America are anticipated to boost the growth of genetic testing industry.

However, the Asia-Pacific genetic testing market forecast is expected to grow during the forecast period, owing to rise in burden of genetic diseases such as thalassemia, cystic fibrosis, and sickle cell anemia among infants, increase in disposable income, high population base, improvement in healthcare infrastructure, and increase in awareness regarding advantages of prenatal and newborn genetic testing, molecular testing, chromosome testing, and others.

Moreover, rise in number of populations suffering from genetic diseases and increase in awareness among people regarding early diagnosis of diseases are anticipated to boost the growth of genetic testing market opportunity. For instance, in May 2022, according to World Health Organization, four million Indians are thalassemia carriers, while more than 1,00,000 are actual patients. Thus, this factor is expected to fuel the demand for genetic testing for detection of rare genetic diseases in early stage and boost the growth of market.     

Genetic Testing Market by Region

Competition Analysis

Some of the major companies that operate in the global genetic testing industry include Abbott Laboratories, Bio-Rad Laboratories, Inc., Myriad Genetics, Inc., Danaher Corporation, F. Hoffmann-La Roche Ltd., Eurofins Scientific, Illumina, Inc., Qiagen N.V., Thermo Fisher Scientific, Inc., and CSL Ltd.  

Recent Developments in the Genetic Testing Market

In November 2022, Myriad Genetics, Inc., a leader in genetic testing and precision medicine, announced that it has acquired Gateway Genomics, LLC, a personal genomics company and developer of consumer genetic tests including the No. 1 selling SneakPeek Early Gender DNA Test. SneakPeek reveals a baby’s gender at six weeks into pregnancy, the only at-home test to do so with 99% accuracy and the earliest method available.

Key Benefits for Stakeholders

  • This report provides a quantitative analysis of the market segments, current trends, estimations, and dynamics of the genetic testing market analysis from 2022 to 2032 to identify the prevailing genetic testing market opportunities.
  • The market research is offered along with information related to key drivers, restraints, and opportunities.
  • Porter's five forces analysis highlights the potency of buyers and suppliers to enable stakeholders make profit-oriented business decisions and strengthen their supplier-buyer network.
  • In-depth analysis of the genetic testing market segmentation assists to determine the prevailing market opportunities.
  • Major countries in each region are mapped according to their revenue contribution to the global market.
  • Market player positioning facilitates benchmarking and provides a clear understanding of the present position of the market players.
  • The report includes the analysis of the regional as well as global genetic testing market trends, key players, market segments, application areas, and market growth strategies.

Genetic Testing Market Report Highlights

Aspects Details
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Market Size By 2032

USD 40.9 billion

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Growth Rate

CAGR of 10.2%

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Forecast period

2022 - 2032

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Report Pages

428

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By Type
  • Carrier Testing
  • Prenatal and Newborn Testing
  • Diagnostic Testing
  • Pharmacogenomic Testing
  • Others
  • Predictive and Presymptomatic Testing
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By Technology
  • Cytogenetic testing
  • Biochemical testing
  • Molecular testing
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By Application
  • Cancer diagnosis
  • Genetic disease diagnosis
  • Others
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By Region
  • North America  (U.S., Canada, Mexico)
  • Europe  (Germany, France, UK, Italy, Spain, Rest of Europe)
  • Asia-Pacific  (Japan, China, India, Australia, South Korea, Rest of Asia-Pacific)
  • LAMEA  (Brazil, Saudi Arabia, South Africa, Rest of LAMEA)
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Key Market Players

Illumina, Inc., F. Hoffmann-La Roche Ltd., Abbott Laboratories, CSL Limited, Qiagen N.V, Myriad Genetics, Inc., Bio-Rad Laboratories, Inc. , Danaher Corporation, Luminex Corporation, Thermo Fisher Scientific, Inc.

Analyst Review

Genetic testing involves examining a person’s blood or other tissues to determine whether the person has a change in the genetic material. Genetic testing may be useful in determining whether an individual has a genetic condition or may develop one in the future. The information gained from genetic testing may be helpful in several ways such as diagnosing a genetic disease, starting treatment, or initiating prevention strategies.

Rise in adoption of key strategies such as business expansion, partnership, acquisition, and others by market players who manufacture genetic testing devices is anticipated to drive the growth of genetic testing market. For instance, in November 2022, Myriad Genetics, Inc., a leader in genetic testing and precision medicine, announced that it has acquired Gateway Genomics, LLC, a personal genomics company and developer of consumer genetic tests including the No. 1 selling SneakPeek Early Gender DNA Test. SneakPeek reveals a baby’s gender at six weeks into pregnancy, the only at-home test to do so with 99% accuracy and the earliest method available.

Author Name(s) : Tanjeem Ismail Shaikh | Roshan Deshmukh
Frequently Asked Questions?

The top companies that hold the market share in genetic testing market are Abbott Laboratories, Bio-Rad Laboratories, Inc., Myriad Genetics, Inc., Danaher Corporation and F. Hoffmann-La Roche Ltd.

North America is anticipated to witness lucrative growth during the forecast period, owing to rise in number of population suffering from genetic diseases, cancer and others and high presence of market players.

The key trends in the genetic testing market are large presence of genetic testing device manufacturers and rise in number of population suffering from genetic diseases, cancer, neurology diseases and others.

The base year for the report is 2022.

10 genetic testing companies are profiled in the report.

The total market value of genetic testing market 15,533.53 million in 2022.

The forecast period in the report is from 2023 to 2032.

High cost of genetic test is restraining factor for genetic testing market.

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Genetic Testing Market

Global Opportunity Analysis and Industry Forecast, 2023-2032