Genetic testing market

Genetic Testing Market on Track for Substantial Expansion: Forecasting a 10% CAGR Over the Forecast Period


Factors driving the market include an increase in the frequency of genetic illnesses, increased interest in early and preventive treatment, increased demand for direct-to-consumer genetic testing, and increased use of genetic testing in oncology.

Genetic testing is a type of medical examination that detects changes to genes, chromosomes, or proteins. Results can confirm or rule out suspected genetic diseases, assisting in determining the risk of acquiring or transmitting genetic illnesses. There are several sorts of genetic tests.:

  • Diagnostic Testing: Identifies genetic disorders in symptomatic individuals, such as confirming diagnoses for conditions like Cystic Fibrosis or Huntington’s disease
  • Presymptomatic and Predictive Testing: Proactively assesses genetic susceptibility based on family history, particularly valuable for evaluating the risk of specific colorectal cancers
  • Carrier Testing: Prudent genetic testing before family planning, especially for those with a family history or high-risk ethnic backgrounds. Identifies potential genetic diseases and assesses both partners’ carrier status
  • Pharmacogenetics: Tailors medication and dosage for optimal effectiveness based on genetic testing, particularly beneficial for individuals with specific health conditions
  • Prenatal Testing: Detects gene abnormalities during pregnancy, including Down Syndrome and Trisomy 18, using traditional methods like blood markers or modern cell-free DNA testing
  • Newborn Testing: Mandatory genetic testing for newborns. It helps in identifying conditions like congenital hypothyroidism, sickle cell disease, or phenylketonuria (PKU) for immediate care initiation
  • Preimplantation Testing: Utilized in in-vitro fertilization (IVF), preimplantation genetic diagnosis (PGD) screens embryos for abnormalities, enhancing the success rate of pregnancy by selecting healthy embryos for implantation
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Genetic testing’s critical role in disease identification drives genetic testing market growth.

Genetic testing, especially prenatal and neonatal screening, is critical in detecting disorders including Thalassemia, Down syndrome, and cystic fibrosis. The rising incidence of genetic illnesses is predicted to drive up global demand for genetic diagnostics. For example, according to UN figures issued on World Down Syndrome Day (March 21, 2022), around 3,000 to 5,000 infants are born with Down Syndrome each year throughout the world. According to the Cystic Fibrosis Foundation Patient Registry, around 40,000 children and adults in the United States have cystic fibrosis, with about 1,000 new cases identified each year. Additionally, the Indian Academy of Thalassemia in 2021 reported that around 15,000 children are born with Thalassemia in India, contributing to approximately 10% of global Thalassemia cases in children.

Growing interest in early and preventive care is driving demand in the genetic testing market

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The desire for early and preventative care is a major driver of the genetic testing business in the United States. The rising cost implications associated with illness treatment have led healthcare providers and regulatory agencies to prioritize early detection and health risk assessment. According to the Centers for Disease Control and Prevention (CDC), chronic illnesses, particularly cardiovascular problems, account for an estimated USD 320 billion in direct and indirect healthcare costs in the United States each year. Genetic testing is becoming important in detecting and avoiding major disease problems before they worsen. As a result, these tests have become fundamental in preventative care, with the majority of private healthcare payers integrating. The market is further fueled by the growing adoption of these testing procedures for rare genetic disorders, supported by increased coverage and favorable reimbursement policies for preventive genetic testing.

Competitive Landscape analysis of the genetic testing market

Some of the key players operating in the market include Abbott Laboratories, Danaher Corporation, Thermos Fisher Scientific, Hoffmann-La Roche, Qiagen, Illumina, Myriad Genetics, Bio-Rad Laboratories, DiaSorin/Luminex Corporation, CircleDNA, tellmeGen, 23andMe, AncestryDNA, Mapmygenome, Color Health, MyHeritage,  among others.

Organic and Inorganic Growth Strategies Adopted by Players to Establish Their Foothold in the genetic testing market

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To improve their market position, extend their services, and broaden their client base, players in this industry use both organic and inorganic development tactics, such as releasing new goods and acquiring related businesses. For instance,

  • In June 2022, Prenetics Group Limited, a prominent player in genomic and diagnostic testing, unveiled ColoClear by Circle (ColoClear), an innovative non-invasive at-home screening test designed to identify early indications of colorectal cancer
  • In March 2022, Illumina, a pioneer in genome sequencing, introduced a Comprehensive Genomic Profiling Test for Cancer in Europe. The single test assesses multiple tumor genes and biomarkers and reveals the specific molecular profile of a patient’s cancer

The Genetic Testing Market is expected to grow further in the coming years as a result of increased adoption of next-generation sequencing, rising disposable income, technological advancements and the availability of new tests, and aggressive organic and inorganic growth strategies implemented by the players.

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Ruta Halde

Associate, Medi-Tech Insights

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