U.S. invests heavily to study the prospects of neonatal genome sequencing

When parents brought their newborns home from the hospital, they brought back not only infinite joy, but also the genome sequencing results of the children. The National Institutes of Health announced on the 4th that it will invest a total of US $ 25 million over the next five years to fund the prospects and ethical challenges of genome sequencing for newborns, making genomic sequencing technology an important step toward large-scale application.

Alan Gutmacher, director of the National Institute of Child Health and Human Development, a member of the National Institutes of Health, said in a statement that day: "Genome sequencing can detect disease risks early in life, but this kind of deciphered personal inheritance The ability of cryptography is also accompanied by many clinical and ethical issues, so it is important to discuss the three issues of genomic research technology, clinical and ethics related to the neonatal stage. "

The National Institutes of Health plans to fund four research groups, including the Brigham and Gynecology Hospital and Boston Children ’s Hospital, which will study how newborn parents use the results of genome sequencing to prevent children ’s future illnesses and treatments.

Staff at the Massey Children ’s Hospital in Kansas will target neonates in intensive care to investigate whether genome sequencing can speed up disease diagnosis. Two research groups from the University of California, San Francisco and the University of North Carolina conducted research on the sequencing of newborn exomes to confirm whether the technology can be used in conjunction with existing newborn screening methods.

Exome refers to the protein coding region in the genome, which only accounts for about 1% of the entire human genome sequence. At present, the United States has carried out heel blood screening for newborns for decades, aiming at early diagnosis of genetic and metabolic diseases, so as to intervene early and prevent irreversible damage to body tissues and organs.

However, there are only dozens of diseases that can be diagnosed by this screening, and there are about 7000 diseases that are clearly related to a single gene defect. At the same time, the rapid decline in the cost of genome sequencing has made it possible to promote its application. At present, the cost of personal whole genome sequencing is about US $ 5,000, while the total exome sequencing cost only about US $ 1,000.

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