(Susanne Posel) National Institutes of Health (NIH) has begun an initiative to discover the viability of sequencing American infant’s DNA through the “heel stick” blood drawn screening conducted on newborns in hospitals to determine the propensity toward life-threatening diseases.
This scheme will cost $25 million over 5 years to understand each individual genetic code in lieu of having DNA routinely mapped and stored in a medical record.
Whether this study would have value has not been established. Experts warn that there are ethical questions surrounding such an endeavor.
Using genetic information to direct infant healthcare is a major concern.
The National Institute of Child health and Human Development (NICHHD) and the National Human Genome Research Institute (NHGRI) are collaborating to fund this initiative.
This program will analyze DNA from 2,000 newborns to be sequenced by:
• Brigham and Women’s Hospital
• Boston Children’s Hospital
• Children’s Mercy Hospital
• University of California in San Francisco (UCSF)
• University of North Carolina
UCSF is being given $4.5 million to participate in the study. They will be tasked with assessing “whether large-scale gene sequencing aimed at detecting disorders and conditions can and should become a routine part of newborn testing.”
Alan E. Guttmacher, MD, director of the ICHD said : “Genomic sequencing has the potential to diagnose a vast array of disorders and conditions at the very start of life. But the ability to decipher an individual’s genetic code rapidly also brings with it a host of clinical and ethical issues, which is why it is important that this program explores the trio of technical, clinical, and ethical aspects of genomics research in the newborn period.”
The University of California at Berkley will provide bioinformatics experts to study “the potential of sequencing the exome” which is the preferred method of screening infants.
This work will examine “the exome’s potential for identifying disorders that California currently includes in the newborn screen, as well as those that are not currently screened for, but for which newborns may benefit if detection can occur early in life.”
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