By Susanne Posel, Occupy Corporatism
The 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.”
With the study, a perfecting of genetic testing is expected to manifest that would improve on the accuracy of current testing. Parents must be willing to participate by handing over their rights to their child’s DNA to these governmental and academic institutions for research.
Concerns that arise are the amount of unnecessary testing that this would cause; as well as more false positives for diseases. This would negatively affect families of children singled out for genetic issues that have not developed – and may never develop.
Last July, the first test – tube baby who was screened for genetic defects was created using a low – cost procedure for the in vitro fertilization process. This IVF procedure was performed at a Pennsylvania hospital.
The baby born was part of a study meant to justify next – generation genetic screening (NGGS) to broaden the use of this procedure.
NGGS is “routinely used by clinical diagnostic laboratories to test for both common and rare single-gene genetic disorders.”
DNA sequencing designed to identify chromosome abnormalities and specific gene defects within the embryo before it is implanted into the uterus was used. Only 30% of implanted embryos are successful; while other genetic screening methods could take over in the near future, this cost – effective method will remain.
Dagan Wells, lead researcher and professor of the Nuffield Department of Obstetrics and Gynecology at the University of Oxford, said : “We can do this at a cost which is about a half to two-thirds of what current chromosome screening costs are. If further randomized trials confirm this, we could reach a point where there is a very strong economic argument that this should be offered very widely – perhaps to the majority of IVF patients.”
Wells went on to say: “Many of the embryos produced during infertility treatments have no chance of becoming a baby because they carry lethal genetic abnormalities. Next-generation sequencing improves our ability to detect these abnormalities and helps us identify the embryos with the best chances of producing a viable pregnancy.”
Wells will present these findings at the European Society of Human Reproduction and Embryology (ESHRE) annual conference.
ESHRE is a collaboration of scientists that promote:
• the understanding of reproductive biology and embryology
• research and the subsequent dissemination of research findings to the public, scientists, clinicians and patient associations
• inform politicians and policy makers in Europe
It is estimated that 1 in 6,500 babies are born with a diagnosable mitochondrial disorder.
The United Mitochondrial Disease Foundation (UMDF) states that mutations are the cause of mitochondrial failure and that depending on the devastating effects, symptoms can include:
• Loss of motor control and muscle movement
• Heart disease
• Respiratory issues
• Vision and hearing loss
According to the NHS: “Opponents of these types of treatments cite what can be broadly summarized as the ‘slippery slope’ argument; this suggests that once a precedent has been set for altering the genetic material of an embryo prior to implantation in the womb, it is impossible to predict how these types of techniques might be used in the future. Similar concerns were raised, however, when IVF treatments were first used during the 1970s; today IVF is generally accepted.”
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