The global burden of genetic diseases is seemed to be increasing. According to a report published by MJH Life Sciences (U.S.) in 2022, approximately 300,000 babies are born with sickle cell disease per year globally, and nearly 5% of the world's population is affected by the disease. It is also the most common genetic disorder in the U.S. According to the CDC, sickle cell disease affects 1 in 500 African Americans, and about 1 in 12 African Americans carry the autosomal recessive mutation. Also, according to a report published by Novartis AG (Switzerland) in June 2020, nearly 15,000 people in the U.K. have sickle cell disease, and approximately 270 babies are born with sickle cell disease every year. Additionally, developing countries like India are among the most affected countries by the disease. There are an estimated 18 million sickle cell trait (SCT) and approximately 1.4 million sickle cell disease (SCD) patients among India’s tribal population (source: ETHealthWorld).
The burden of genetic disorders in newborns is also rising. According to World Health Organization 2022 report, Down syndrome, neural tube defects, and heart defects are among the common severe congenital disabilities. In April 2021, CDC reported that down syndrome affects nearly 6,000 babies born in the U.S. annually, which is one in every 700 babies, and nearly 23,000-29,000 children suffer in India from down syndrome annually, which is one in every 831. The disease is seemed to impact the lives of babies, which can be reverted by conducting genetic analysis for early diagnosis. In the case of neural tube defects, cases that are constantly increasing are also increasing the demand for genetic testing. According to the report "Neural tube defects: Different types and brief review of neurulation process and its clinical implication” published in Journal of Family Medicine and Primary Care, in 2021, there are more than 300,000 cases every year of NTDs globally. These factors fuel the adoption of genetic testing for inherited diseases.
Also, various initiatives by governments for promoting genetic testing and high investments in healthcare infrastructure focused on strengthening the diagnosis sector are positively impacting the market. For instance, the U.S. government is also supporting newborn screening tests to reduce the cases of genetic disorders through early detection, diagnosis, and intervention for newborns in the country. The Health Resources and Services Administration (HRSA) has recommended 35 specific conditions for encouraging comprehensive and uniform newborn screening throughout the U.S. and supporting insurance programs like Medicaid or state Children's Health Insurance Program to pay fees for newborn screening for eligible families. Additionally, governments are investing in strengthening healthcare infrastructure to provide better healthcare facilities. For instance, according to the Federal Economic Development Agency for Southern Ontario, 2020, the Government of Canada invested over USD 5.6 million to help genomic companies in launching products in the market. The government has also allocated USD 400 million to support the creation and implementation of a Pan-Canadian Genomics Strategy. Through this, the government aims to become a leader in genomic innovations and technologies.
According to Meticulous Research®, the global genetic testing market is projected to reach $28.24 billion by 2030, at a CAGR of 10.4%.
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