The Rising Burden of Genetic Diseases and the Role of Genetic Testing

The Genetic Testing Market is anticipated to attain $28.24 billion by 2030, with a CAGR of 10.4% from 2023 to 2030.

The global burden of genetic diseases is on the rise, prompting increasing attention from healthcare systems and governments worldwide. According to a report by MJH Life Sciences published in 2022, approximately 300,000 babies are born with sickle cell disease (SCD) each year, affecting nearly 5% of the world’s population. This genetic disorder is particularly prevalent in the United States, where the Centers for Disease Control and Prevention (CDC) reports that it affects 1 in 500 African Americans, with about 1 in 12 carrying the autosomal recessive mutation. The situation is similarly concerning in the U.K., where Novartis AG reported that around 15,000 individuals live with sickle cell disease, and approximately 270 babies are diagnosed annually. Developing countries, such as India, face a substantial burden as well, with an estimated 18 million individuals carrying the sickle cell trait and approximately 1.4 million diagnosed with SCD among the tribal population.

The Growing Impact of Genetic Disorders

The burden of genetic disorders is not limited to sickle cell disease; it extends to various congenital disabilities affecting newborns. The World Health Organization’s 2022 report highlights that conditions like Down syndrome, neural tube defects (NTDs), and congenital heart defects are among the most common severe congenital disabilities. According to the CDC, Down syndrome affects nearly 6,000 babies born annually in the U.S., equating to about 1 in every 700 births. In India, approximately 23,000 to 29,000 children are born with Down syndrome each year, representing 1 in every 831 births.

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Furthermore, the increasing incidence of neural tube defects contributes to the growing demand for genetic testing. A 2021 report published in the Journal of Family Medicine and Primary Care indicates that there are over 300,000 cases of NTDs worldwide each year. The urgent need for early diagnosis and intervention underscores the importance of genetic analysis, which can significantly impact the lives of affected infants.

Government Initiatives and Investments in Genetic Testing

To combat the rising burden of genetic disorders, governments are implementing various initiatives to promote genetic testing and invest in healthcare infrastructure. In the U.S., for instance, the government supports newborn screening tests aimed at reducing the incidence of genetic disorders through early detection and intervention. The Health Resources and Services Administration (HRSA) has recommended 35 specific conditions to encourage comprehensive newborn screening across the country, while insurance programs like Medicaid and state Children’s Health Insurance Programs cover screening costs for eligible families.

In Canada, the government has taken significant steps to enhance its genomic capabilities. According to the Federal Economic Development Agency for Southern Ontario, in 2020, the Canadian government invested over USD 5.6 million to support genomic companies in launching products. Additionally, a substantial USD 400 million has been allocated to create and implement a Pan-Canadian Genomics Strategy, aimed at positioning the country as a leader in genomic innovations and technologies.

Market Growth Projections

The genetic testing market is experiencing robust growth, fueled by increasing awareness and adoption of testing for inherited diseases. According to Meticulous Research®, the global genetic testing market is projected to reach USD 28.24 billion by 2030, with a compound annual growth rate (CAGR) of 10.4%. This growth trajectory reflects the critical role genetic testing plays in improving healthcare outcomes and enhancing the quality of life for individuals affected by genetic disorders.

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Scope of the Report:

Genetic Testing Market, by Offering

• Consumables & Reagents
• Instruments
• Services

Genetic Testing Market, by Test Type

• Prenatal Testing
• Predictive and Presymptomatic Testing
• Diagnostic Testing
• Newborn Screening
• Preimplantation Testing
• Carrier Testing

Genetic Testing Market, by Method

• Molecular Tests
• Chromosomal Tests
• Biochemical Tests

Genetic Testing Market, by End User

• Hospitals & Clinics
• Diagnostic Laboratories
• Others End Users
  (Other End Users Include Academic & Research Institutes, Pharmaceutical & Biotechnology Companies, And Contract Research Organizations)

Genetic Testing Market, by Geography

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

Conclusion

The rising burden of genetic diseases, coupled with the increasing awareness of the benefits of early diagnosis through genetic testing, underscores the need for comprehensive healthcare solutions. With government initiatives and investments supporting advancements in genetic testing and healthcare infrastructure, the future holds promise for reducing the incidence of genetic disorders and improving the lives of affected individuals. As the global healthcare landscape continues to evolve, the role of genetic testing will be pivotal in shaping effective strategies to combat the growing burden of genetic diseases.

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