Genetic Testing Market Research Report: By Type (Carrier Testing, Diagnostic Testing, New-Born Screening, Predictive & Pre-Symptomatic Testing, Prenatal Testing), Technology (Cytogenetic Testing, Molecular Testing, Biochemical Testing), Clinical Indication (Alzheimer’s Disease, Cancer, Cystic Fibrosis, Sickle Cell Anaemia, Duchenne’s Muscular Dystrophy, Thalassemia, Huntington’s Disease) – Global Industry Size, Share, Growth, Analysis and Forecast to 2030

  • Publishing: June 2021
  • Report Code: LS11364
  • Available Format: PDF

Genetic Testing Market Overview

The global genetic testing market size is expected to register a considerable growth in the near future because of the increasing demand for direct-to-consumer genetic testing, wide applications of genetic testing in genetic diseases and oncology, technological advancements and availability of new tests, and rising demand for personalized medicine. Apart from this, various government initiatives for spreading awareness regarding genetic testing procedures are also driving the growth of the industry.

Different types of genetic tests are pharmacogenomic testing, predictive & pre-symptomatic testing, diagnostic testing, carrier testing, newborn screening, and prenatal testing. Among these, the diagnostic testing type held the largest genetic testing market share in the past and is projected to dominate the market in the coming years as well. This is due to the rising awareness among people about health and growing incidence of genetic diseases around the world. The pharmacogenomic testing type is predicted to grow at the fastest pace in the near future because of its wide applications in drug discovery and development in pharmaceutical companies.

The different technologies utilized for genetic testing are biochemical testing cytogenetic testing, and molecular testing. Molecular testing held a considerable share of the genetic testing market in the past due to the growing analysis of biological market in the proteome and genome studies. The several clinical indications covered in the domain include cancer, sickle cell anemia, thalassemia, Alzheimer’s disease, cystic fibrosis, Duchenne’s muscular dystrophy, and Huntington’s disease. Among these, cancer testing accounted for a substantial share of the market in the past, because of the rising prevalence of cancer and increasing awareness regarding its early diagnosis.

Geographically, the largest genetic testing market share was held by North America in the past due to the presence of huge number of academic and research institutes, availability of technologically advanced products, and increasing government funding. As per the National Center for Biotechnology Information repository, the U.S. accounts for 259 from a total of 505 lab participants all around the world. The Asia-Pacific region is projected to register the fastest growth in the coming years, owing to the increasing adoption of innovative technology for clinical applications and rising awareness regarding the advantages of predictive testing.

Genetic Testing Market Dynamics


The increasing incidence of genetic disorders is a key driving factor for the genetic testing market growth. As per the World Health Organization, sickle cell anemia is genetic disorder which is particularly common among people whose ancestry is linked to South America, India, Sub-Saharan Africa, Central America, Saudi Arabia, Cuba, and Mediterranean countries including Italy, Turkey, and Greece. In addition, extensive applications of genetic testing in oncology and inherent diseases is also positively affecting the growth of the market. Gene diagnosis helps in estimating the probability of development of cancer in an individual and is done by examining specific changes in chromosomes, protein, and genes.

Another factor which is predicted to drive the genetic testing market is the increasing preference towards direct-to-consumer (DTC) genetic testing. The involvement of healthcare professionals is eliminated as DTC genetic testing is sold directly to the consumers via online platforms. It provides a proper understanding of individuals’ genomics and hence, allows them to make important changes their dietary habits and lifestyle. Because of this the patient can take early measures and precautions for avoiding further complexities. These features of DTC genetic testing are expected to result in its growing demand in the coming years.

Genetic Testing Market Competitive Landscape

The player operating in the genetic testing market are engaging in partnerships and collaborations in order to increase their share in the market. For example, Biocartis SA partnered with Thermo Fisher Scientific Inc. for distributing its Idylla platform and accompanying assays, with an increased focus on oncology products in the U.S., in November 2016. Similarly, in February 2016, Biocartis SA collaborated with Amgen Inc. for evaluating the Idylla RAS testing as a tool for swift decentralized testing in different countries.

Some other key players operating in the global genetic testing market are GE Healthcare, Transgenomic Inc., 23 & Me Sequenom Inc., Illumina Inc., Abbott Laboratories, 454 Life Sciences, Luminex Corporation, Bio-Rad Laboratories, Affymetrix Inc., Cephide Inc., Agilent Technologies Inc., and Beckman Coulter Inc.

Genetic Testing Market Segmentation

By Type

  • Carrier Testing
  • Diagnostic Testing
  • New-born Screening
  • Predictive and Pre-Symptomatic Testing
  • Prenatal Testing

By Technology

  • Cytogenetic Testing
  • Molecular Testing
  • Biochemical Testing

By Clinical Indication

  • Alzheimer's Disease
  • Cancer
  • Cystic Fibrosis
  • Sickle Cell Anaemia
  • Duchenne's Muscular Dystrophy
  • Thalassemia
  • Huntington’s Disease
  • Others

By Region

  • North America
    • U.S.
    • Canada
  • Europe
    • Germany
    • U.K.
    • France
    • Italy
    • Spain
    • Rest of Europe
  • Asia-Pacific
    • Japan
    • China
    • India
    • Rest of Asia-Pacific
  • Latin America
    • Brazil
    • Mexico
    • Rest of Latin America
  • Middle East & Africa (MEA)
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