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Genetic Testing Services Market Size and Forecast 2021-2031, Global and Regional Share, Trend, and Growth Opportunity Analysis Report Coverage: By Service Type, Disease, Service Provider, and Geography
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The genetic testing services market size is projected to reach US$ 12.48 billion by 2031 from US$ 3.86 billion in 2023. The market is expected to register a CAGR of 15.8% during 2023-2031.

The growth of the genetic testing services market is attributed to the growing prevalence of genetic diseases, increasing awareness and acceptance of personalized medicines, and growing preference for direct-to-consumer genetic testing. However, the social and ethical implications of genetic testing and the affordability of genetic services hinder market growth.

Emerging countries such as China, India, Mexico, and Brazil offer significant growth opportunities to market players. The high growth can majorly be attributed to the increasing public healthcare expenditure, improving healthcare infrastructure, and the presence of a large target patient population. The need for genetic testing has also increased owing to a rise in awareness of genetic disorders and their early diagnosis in developing economies.

The quality and availability of genetic services may differ between high-income countries and low- to middle-income countries. For instance, in the US, Australia, Canada, the UK, and other European countries, genetic services are well-advanced, established, and extensive. These services include newborn screening, carrier identification screening, and prenatal diagnosis. Yet, in many high-income countries, genetic services that are offered in multiple settings still need improved systems of assessment.

The ease and applicability of genetic testing procedures have benefitted R&D activities in Asia Pacific and other developing regions worldwide. Major market players are focusing on strategies and initiatives, such as agreements, collaborations, partnerships, and expansions, to improve their product availability, accessibility, and distribution networks in these countries, as it will help them address the growing need for early diagnosis and treatment. For instance, in 2019, GENOMIKA, one of the leading genetic testing laboratories in Brazil, reached an agreement with Veritas to incorporate Whole Genome Sequencing and all the services associated with these tests in the field of preventive medicine and clinical genetics into its portfolio.

The Chinese government identifies genomics as an important strategic field in its 14th Five-Year Plan (2016-2020) for the country's economic and social development. In 2016, the Chinese Academy of Sciences launched the Precision Medicine Initiative, a 14-year project worth US$ 9.2 billion to sequence more than 100 million human genomes by 2030. In December 2017, China's Ministry of Science and Technology collaborated with a human genome research project to document the genetic makeup of 100,000 people. Using the genetic data of nine different minority groups, researchers desire to decode hereditary information within genes. In addition, rising consumer awareness regarding DTC genetic tests in developing economies offers growth opportunities to the DTC industry.

Therefore, emerging markets in developing countries are anticipated to offer significant growth opportunities to the players operating in the market and boost the market growth during the forecast period.

As of 2018, there were ~75,000 genetic tests available in the market, with nearly ten new tests entering the market every day. As per the study "Trends in Availability of Genetic Tests in the United States, 2012-2022," published in 2023, ~129,624 and 197,779 genetic tests in the US and globally, respectively, have been made accessible and submitted to the genetic testing registry as of November 2022. These tests have been extended from single-gene tests to panels that look at multiple genes. To solve the growing problem of health data exhaust, the field of medicine is increasingly revolving around enhanced clinical tools, such as artificial intelligence (AI) and machine learning, which have been mentioned as a way to improve the acceptance of genomic medicine. Today, many companies have turned to machine learning to process the vast amount of data needed to correctly analyze and understand clinical data in fields such as radiology and cardiology.

Many of the consumer-facing genetic testing technologies that are available in the market are using machine learning or AI to function. In numerous ways, genetic testing of diseases is the perfect field for machine learning because of the vast volumes of data that these programs need to struggle with. For example, working on the human genome includes reading billions of bits of information, and prior to the introduction of machine learning, many of these tasks were pretty tricky. AI offers great potential when it comes to analyzing genetic data and supporting clinical specialists in making diagnoses.

Google has a program called Deep Variant that can now be used to plot the human genome thoroughly and can be used on the full range of a person's genetic information. Moreover, agencies such as the National Institutes of Health are working on ways through which machine learning and AI can add to a better understanding of genetics and genomics. Thus, through the successful integration of these tools, clinicians will be able to diagnose rare genetic diseases more efficiently and effectively.

Service Provider -Based Insights

Based on service provider, the genetic testing services market is segmented into hospital-based laboratories, diagnostic laboratories, and others. In 2023, the hospital-based laboratories segment held the largest share of the market and is anticipated to register the highest CAGR during 2023-2031. Hospital-based laboratories are genetic testing service providers that operate within a hospital setting. Hospital laboratories can be segmented by type of testing and staffed by personnel trained in particular specialties. For instance, some sections can focus on microbiology, hematology, chemistry, and blood banking. At the same time, some units may perform highly specialized genetic tests using electron microscopy and immunohistochemistry, and others can focus on surgical pathology and cytology, which are all linked with the investigation of cell and tissue structure. The market growth for the segment can be due to the compulsory newborn screening for genetic disorders and the growing prevalence of cancer in many regions.

Seattle Children's Hospital in Washington, Wyoming, Alaska, Montana, and Idaho (WWAMI) region provides comprehensive genetic testing and consultative services to healthcare workers and families. Their genetics laboratories consist of molecular genetics, cytogenetics, biochemical genetics, and a research and development laboratory devoted to bringing the most existing and specific research tests into the clinical field. Overall, these laboratories play a crucial role in helping to diagnose genetic disorders, guide treatment decisions, and improve patient outcomes.

Centers for Disease Control and Prevention, the US Food and Drug Administration, the World Health Organization, and are among the primary and secondary sources referred to while preparing the genetic testing services market report.

Table Of Contents

1. Introduction

2. Executive Summary

3. Research Methodology

4. Genetic Testing Services Market Landscape

5. Genetic Testing Services Market - Key Market Dynamics

6. Genetic Testing Services Market - Global Market Analysis

7. Genetic Testing Services Market Analysis - by Service Type

8. Genetic Testing Services Market Analysis - by Disease

9. Genetic Testing Services Market Analysis - by Service Provider

10. Genetic Testing Services Market - Geographical Analysis

11. Genetic Testing Services Market - Industry Landscape

12. Company Profiles

13. Appendix

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