2015年8月12日星期三

Current Situations of Genome Sequencing for New Born Babies

Since last century, newborn babies have gotten a heel-prick test in which their blood is screened for dozens of congenital diseases. Routine newborn baby screening has basically eliminated the risk of death or irreversible brain damage that some of these disorders can pose if they are not identified right away. Even though, it has brought about great controversies in this field.

Last December, Mercy Children’s Hospital of Kansa released its results of genome sequencing for sick new born babies on Science Translational Medicine. In this research, they practiced whole genome sequencing or exome sequencing for children with severe neurological developmental disorders from 100 families, among which there are families that have been seeking for diagnostic methods for their children for years. According to the data, 45% of the families have experienced genome sequencing. Moreover, 73% of the babies with congenital disease have accepted this brand new testing approach.
Doctor Stephen F. Kingsmore, leader of this project hopes that the whole genome sequencing project could be carried on to around 14% of the newborns observed in ICU among the total 4 million per year.
Researchers from the USA are also investigating families’ attitudes towards genome sequencing. Last December, they made a research on parents of 514 healthy babies born within the past 48 hours in Brigham and Women's Hospital. This research was aimed to get a general knowledge of how much do these parents know about their babies’ genome information, risks of getting genetic diseases and the meaning of genome information. While being asked about whether they would be willing to attend the project of whole genome sequencing for newborn babies, results showed that 83% said yes and were happy to be in this project.

Moreover, Donald Chaplin of Acton, the farther a 17 months old baby, was also interested in it. He himself is a pharmacist, and he worried that the gene data might have the risk of been misused. Even though, he still wants to learn more about the gene information of his son. Jamaican engineer Nicholas Catella, however, said that he wouldn’t care much about the result unless it shows that his babies have great risks of getting severe diseases. Mr. Catella has two children, one is three old and the other 16months. He knows that gene sequencing is able to reveal the risks of getting chronic diseases like Alzheimer's, but we do have no good invention methods at present.


We hope, one day when this new testing skill develops greatly, that the gene sequencing data since the birth of babies can accompany throughout all their life, and that gene sequencing can lead the growing process of newborn babies. 

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