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newborn genome sequencing

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Posted on: 10-12-14
Parents want genome sequencing for newborns

As per a new study most parents irrespective of their demographic background are very much keen to have genomic sequencing done for their newborns that would make possible for the doctors to have a personalized medicine to guide therapeutic intervention.

As next-generation genome sequencing is integrated into clinical practice, researchers are increasingly interested in genomic testing to provide valuable personalized health information for newborns beyond what existing standard newborn genetic screening produces. But such a testing, performed just after birth, requires the interest and consent of the infant's parents.

The human genome is made up of over 3 billion genetic letters- A, C, G, and T. These are known as DNA nucleotides and represent pieces of DNA called adenine, cytosine, guanine and thymine. Whole genome sequencing (WGS) involves using advanced technology to determine the order of these nucleotides within the genome. As well as enabling quicker and simpler gene discovery, scientists say that WGS may reveal previously unknown genes that contribute to diseases and that the process could lead to personalized treatment methods. Furthermore, WGS could lead to identification of lifestyle and environmental factors that affect genetic predisposition.

The study, led by researchers at Brigham and Women's Hospital (BWH) and Boston Children's Hospital, found that the majority of parents surveyed were interested in newborn genomic testing. Several other studies have measured parents' interest in newborn genomic screening but none focused on new parents in the first 48 hours.

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