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Genetic Testing Services Market was valued at US$ 3,425.23 Million in 2022 and is expected to reach to US$ 10,556.29 Million by 2030; it is estimated to record a CAGR of 15.1% from 2022 to 2030

Genetic Testing Services Market

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

Rising Prevalence of Genetic Diseases to Drive Genetic Testing Services Market Growth

The prevalence of genetic diseases is rising across the world and impacting the health of people at a severe level. Genetic diseases show many symptoms that are uncommon and are mostly non-curable. Most genetic diseases are rare and are developed due to mutations in people’s genetic makeup. According to the World Health Organization (WHO), in 2021, 10 out of every 1,000 people are affected by single-gene diseases, signifying that 70 million and 80 million people worldwide are living with any one type of single-gene disease. As per the Global Genes, ~7,000 known rare diseases and disorders have been identified worldwide, and more are being discovered every year.

According to the University of Sheffield research, ~300 million people are living with genetic diseases around the world. In 2022, a report by MJH Life Sciences (US) estimated that 300,000 newborns worldwide are born with sickle cell disease every year, accounting for ∼5% of the global population. Also, as per the study titled “Sickle Cell Disease,” published in August 2023, 1 in 500 African Americans is affected by sickle cell disease, and ∼1 in 12 African Americans carry the autosomal recessive mutation. In June 2020, as per Novartis AG (Switzerland) report, ∼15,000 individuals were suffering from sickle cell disease in the UK, and 270 newborns are diagnosed with the condition every year.

In Asia Pacific and the Middle East, a very large population is diagnosed with genetic diseases due to consanguineous marriage favored in many communities. Marriages between relatives are the major concern for the rising prevalence of genetic diseases. The burden of autosomal recessive disease variations is high in Saudi Arabia due to the highly consanguineous population. To control these conditions, countries in the Middle East are mandatorily conducting genetic evaluations for couples getting married so that the prevalence of these diseases can be managed and treated in a timely manner.

Thus, the rising prevalence of genetic diseases fuels the demand for genetic testing, which in turn drives the growth of the market for genetic testing services.

Genetic Testing Services Market: Regional Overview

Based on region, the genetic testing services market is primarily segmented into North America, Europe, Asia Pacific, South & Central America, and the Middle East & Africa. Asia Pacific is anticipated to register the highest CAGR in the market from 2022 to 2030. In the region, China held the largest market share and is estimated to register the highest CAGR during 2022–2030. Over the past few years, there has been a significant rise in awareness levels about the benefits of genetic testing in the country. Moreover, a rise in the availability of DTC tests has increased the convenience and accessibility of such tests, creating a positive impact on the growth of the market. In recent years, the country’s scientists and authorities have highlighted how genetic material could be effectively utilized to study and treat diseases, develop pharmaceuticals and medical devices, and better understand how congenital disabilities are formed.

According to the study titled “Spotlight on Gene Therapy in China,” published in July 2020, over 57 million people suffer from genetic diseases in the country, and ~4 million new cancer cases are recorded per year. According to the Global Cancer Observatory data, a total of 4,568,754 cancer cases were reported in 2020 in the country. According to the article titled “Rare Disease Day: why China’s Rare Disease Burden Could be an Opportunity for Innovation,” published in February 2023, ~20 million Chinese people suffer from rare diseases.

In October 2015, China stated that the iconic one-child policy had been exchanged for a universal two-child policy. This is anticipated to increase the number of children born yearly and create a positive impact on the demand for newborn genetic testing. In 2016, the Chinese Academy of Sciences initiated the Precision Medicine Initiative, a 14-year, US$ 9.2 billion project to sequence over 100 million human genomes by 2030. In July 2021, Chinese gene company BGI Group developed a prenatal test in collaboration with the country’s military. It is used to collect genetic data from millions of women for sweeping research on the traits of people. BGI states that it stores and re-analyzes left-over blood samples and genetic data from the prenatal tests sold in nearly 52 countries to detect abnormalities such as Down syndrome in the baby. Therefore, the factors mentioned above are expected to propel the growth of the genetic testing services market in China.

Genetic Testing Services Market: Competitive Landscape and Key Developments

Laboratory Corporation of America Holdings; F. Hoffmann-La Roche Ltd; Illumina, Inc.; Quest Diagnostics Incorporated; Exact Sciences Corp (Genomic Health); NeoGenomics Laboratories, Inc.; Eurofins Scientific; Ambry Genetics; Centogene AG; and 23andMe, Inc are a few of the key companies operating in the genetic testing services market. These companies focus on product innovation strategies to meet evolving customer demands, along with maintaining their brand name.

A few of the recent developments in the global genetic testing market are mentioned below:

  • In October 2023, Centogene expanded its Multiomic Diagnostic Portfolio with the incorporation of transcriptomic analysis. It allows to combine DNA sequencing, biochemical testing, and RNA sequencing to improve testing capability.
  • In July 2023, Quest Diagnostics Inc. launched its first consumer-initiated genetic test, Genetic Insights. The test can be accessed at questhealth.com via its consumer health business. With the launch of advanced technology and end-to-end support, including personalized health reports and genetic counseling, consumers will be able to understand their potential risk of having certain inheritable health issues.
  • In April 2023, Ambry Genetics Corp collaborated with LifeStrands Genomics to offer clinical genetic testing services in Singapore. Both companies will support the Clinical Implementation Pilots (CIPs) for Phase II of Singapore’s National Precision Medicine (NPM) program.

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