In recent years, all new parents can go home from the hospital with not just a bundle of joy, but with something else-the complete DNA sequence of their baby. A new research program funded at $ 25 million over 5 years by the National Institutes of Health (NIH) will explore the promise and ethical challenges-sequencing of the genome of each newborn.
The pilot projects are based on decades old state screening programs that take a heel drop of blood almost all newborns and test for biochemical markers for several rare diseases. With some diseases, diagnosis of a child at birth may help doctors prevent irreversible damage, phenylketonuria, a metabolic disorder that can be controlled with diet, is an example.
screening programs of newborns often lack the case or turn to false positives, however. They seek only a few dozen diseases, all 7000 or if not known diseases or presumed caused by defects in a single gene. "We can see the potential value of looking at the genome of a child to examine all the genes or perhaps a particularly informative subset of them early in life," said Alan Guttmacher, director of . National child health and human development Institute (NICHD), in a call with reporters today sequencing Ever-cheaper makes it more feasible: whole genome now costs $ 5,000, and the right decoding encoding a DNA-1% protein of the genome known as exome-can be done for $ 1,000, compared to several hundred dollars to test a single genetic mutation.
to explore how genomes of newborns could be used in medical care, as well as ethical, legal and social issues that this raises, NICHD and the National Human Genome Research Institute (NHGRI) fund four projects. Two separate teams the University of California, San Francisco (UCSF), and the University of North Carolina, Chapel Hill, will sequence the exomes babies, some with known disease, to see if genetic data may strengthen the results of newborn born screening standard. A third group Mercy Hospital for children in Kansas City, Missouri, will examine whether the sequencing of the genome may accelerate diagnosis of hundreds of genetic diseases in newborns sick enough to require neonatal intensive care.
The projects, which also include Boston can also test the genes involved in drug metabolism in the hope that it may help prevent rare overdoses. But they decode all exome or whole genome of an infant, some teams will analyze data only for genes on a short list. Robert Nussbaum UCSF said it would not make sense to tell parents about, for example, mutations in a gene called APOE , which increases the risk of Alzheimer's disease in adulthood. "For the love of God, we do not even have a clear idea of what to do about it in adults," said Nussbaum.
Some projects can go further, however. The team from Brigham and Women's hospital in Boston and the Boston children's hospital randomly assign 480 newborns healthy and sick to two groups that will receive the standard newborn screening, and one that will also have their genomes sequenced . in the coming years, researchers share results with parents and their doctors, including genes that increase disease risk future and consider how this information affects the medical care of the child. NIH wants to learn "how parents feel and what they think, what results they would like, and also [work] with doctors about how they understand and do not understand, "said Tiina URV, a Branch program Director deficiency intellectual and development NICHD.
But wait NIH researchers to follow the letter a recent report of the American College of Medical Genetics and Genomics on the so-called "incidental findings" that the list of risk mutations 57 disease that the group felt should be reported to a patient when its genome is sequenced as part of routine clinical care. This list "was a sort of version 1.0" which "revealed a number of questions to be answered," says NHGRI Director Eric Green.
In addition, because of the sensitive nature of the genomes of newborns, NIH won 't require researchers to submit sequencing data to a shared search database, as the agency normally required for studies of adult diseases.
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