The National Health System in the U.K. has launched a new program that tests newborns for over 200 rare genetic diseases, called The Generation Study. Doctors take a blood sample from the umbilical cord shortly after birth to create a genome sequence that can be studied for defects. By relying on genome sequencing, diseases are able to be diagnosed before symptoms even arise. The earlier rare conditions are diagnosed in children, the earlier they are able to intervene to prevent long term consequences. Families are better prepared to plan for the child’s care, and the child has early access to potentially life changing treatments. Parents can decide during pregnancy if they want to participate in the study, and are informed within one month after birth if their child is suspected of having a condition. The Generation Study has tested hundreds of newborns in 13 NHS hospitals so far, and plans are in place to expand the program to all corners of the U.K. soon.
Image via NIH
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