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Screening babies for genetic diseases with a whole-genome sequence could soon become a routine part of wellness exams. The BabySeq Project, led by Brigham and Women’s Hospital, the Broad Institute, and Harvard Medical School, completed a randomized clinical trial designed to measure the medical, behavioral, and economic outcomes of using comprehensive genomic sequencing in newborns. It surfaced unanticipated monogenic disease risks in 11% of newborns who otherwise appeared healthy. In 2023, at least 200,000 babies born in England will have their genomes sequenced. Genomics England, a government program originally designed to investigate genetic diseases and cancer in adults, will pilot an initiative to collect a representative sample of the country’s newborn DNA. The program will use whole genome sequencing to detect genetic variants, in an effort to identify and treat hundreds of conditions. This is just one of a dozen newborn sequencing programs now active worldwide. The GUARDIAN project, helmed by Columbia University, Irving Medical Center, New York-Presbyterian, and the New York Department of Health, aims to sequence 100,000 babies in the next four years. Proponents of full genome exams argue that while newborns are often checked for a handful of common heritable diseases, such as cystic fibrosis and sickle-cell anemia, more conditions could be managed successfully given early detection and treatment. Whole-genome sequencing offers the tantalizing prospect of finding potentially thousands of genetic variants that might show up later in life, and dramatically broadens the pool of research data. Some argue that the data results in probabilities—not predictions—and will force parents to face the decision of what to tell their child, and when. Another concern: some governments might use full genome exams to harvest data on its youngest citizens.

Full genome exams

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