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Which parent doesn’t want their baby to be healthy? We all do everything we can to ensure our precious sweetlings are well-fed and happy all the time. We also get them vaccinated regularly and even keep a pediatrician on speed dial, so we can avert the smallest of disasters and remove any obstacle that stands in the way of our baby’s health and well-being.
一个最大的障碍是diseases. Babies are quick to catch them (due to their vulnerable and developing immune systems), and even though screening tests exist to detect, none of them are half as efficient to be able to diagnose a vast majority of the diseases that can affect an infant.
However, recently medical science has made a breakthrough and scientists have come up a groundbreaking test that can help detect 1,800 possible conditions that could affect children in their infancy. And even though this sounds like real good news, some parents still have concerns about it.
Developed by the doctors of the well-known hospital in Boston, US, the Brigham and Women’s Hospital, this screening test, if opted for, can help parents understand what’s wrong with their child (if anything) and can consequently, guide them towards the right treatment options.
This screening test is known as full genome sequencing and can be quite useful if performed during the early stages of infancy as it can help save the baby from life-threatening diseases. According to the article on full genome sequencing in Scientific American, “Full genome sequencing of newborns for existing and potential disorders is now technologically possible and might soon be economically feasible.”(1)
Even though this sounds like real good news, many parents are still not enthused. In fact, they are rather afraid and skeptical to use this technology. What concerns them most exactly has been explained by Dr. Robert Green, one of the doctors at the Brigham and Women’s Hospital.
他在一次采访中说到新闻频道3 parents were extremely worried about privacy. He said, “People are distrustful of information gathering. They’re hearing about all these break-ins and hacks.” Such news has gotten parents alarmed as they do not wish for their and their baby’s privacy to be violated this way; neither do they want their kids to be made fun of or be the subject of discrimination and jokes in schools and other such environments.
Despite the concern being real, it still does not justify ruling out full genome sequencing. In the US currently babies are tested for 31 possible conditions, but that is nearly not as good enough as 1,800. As a result, babies die untimely deaths as the diseases they suffer from are not detected by the tests in existence.
In fact, one such child death could’ve been prevented had he gone through a full genome sequencing. He had taken all the 31 tests and his reports had come clear. But after seven months of being born, he suddenly fell ill and gradually succumbed to his illness. It was later found out that he suffered from SCID or severe combined immunodeficiency, a genetic disorder that affects the immune system.
However, SCID is not the only condition that can affect children and which full genome sequencing can detect. According to a study conducted by Rady Children’s Institute for Genomic Medicine, it was confirmed that this screening test was able to correctly diagnose 43% of the babies of the 42 babies tested(2).
While parents may be concerned about privacy, it is still good news that medical science has developed to such an extent that it can help save the lives of millions of children who remain undiagnosed or misdiagnosed.
