Whole Exome Sequencing Market Trends

Growth Drivers

• Growing Prevalence of Rare Disease - According to National Center for Advancing Translational Sciences, one in ten Americans, or 30 million people, are thought to be affected by one of the more than 10,000 identified rare diseases. Heuristic methods, which combine the clinical knowledge gained from earlier unusual disease presentations with the body of medical literature, are a significant part of traditional diagnostic techniques. Several people with rare diseases go years without receiving a diagnosis, and many even pass away. Hence, exome sequencing has made it possible to pinpoint the underlying molecular mechanism of such uncommon and undetected disorders. Therefore, this factor is estimated to boost the growth of the whole exome sequencing market.
• An Increase in Funding for Genomics Research - The government has announced money for the development of the world's most cutting-edge healthcare system for genomics, which would assist to save lives and enhance health outcomes. The UK's Health and Social Care Secretary announced an investment of about USD 174 million for innovative genomics research in 2022.
• Reduction in Cost of Sequencing - The price of sequencing one million DNA bases—just the raw data from a sequencer—has decreased from over USD 1,100 in 2004 to roughly about USD 0.09 in 2011, and it was more or less at approximately USD 0.02 in 2019.
• Growth in Number of Children Born with Genetic Defect - Birth defects are frequent. A baby with a birth defect is born in the United States every four and a half minutes. This translates to about 110,000 births every year, or approximately 2 out of every 33.
• Upsurge in Healthcare Infrastructure - In 2021, the amount spent on health care in the United States increased by about 3 percent reaching approximately USD 3 trillion, or about USD 12,913 per person.

Challenges

• Lack of Skilled Professional
• Whole Exome Sequencing Ethical & Legal Issue
• Growing Demand for WGS - Certain exons may not be captured. Current standard annotations of the human genome may not include the important exon, and using the WES technology currently available, it is simply difficult to cover the entire exome. Hence, disease-causing mutations in these "missing" exons won't be noticed. If the most thorough exon coverage is required, WGS has proven to offer more thorough exome coverage than WES. Hence, this factor is estimated to hinder the growth of the market.