lunes, 9 de septiembre de 2013

PHG Foundation | US funds pilots of genomic sequencing in newborn screening

PHG Foundation | US funds pilots of genomic sequencing in newborn screening

US funds pilots of genomic sequencing in newborn screening

4 September 2013   |   By Dr Philippa Brice   |   News story
Source: Press release
The US National Institutes of Health (NIH) is to fund pilot projects to examine the use of genomic sequencing for newborn screening.
Newborn screening is a common public health approach to detecting rare metabolic and other forms of disease in the days following birth, allowing in many cases prompt intervention to prevent sometimes irreversible harm. The US screens for many more conditions than the UK, but both use the same basic approach of tandem mass spectrometry to detect biochemical markers.
Now the National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI) have dedicated $25 million over five years to four centres as part of the Genomic Sequencing and Newborn Screening Disorders research programme. The centres will examine the potential of genome and exome sequencing to expand and improve newborn screening by improving health and detecting disease.
NICHD Director Alan E. Guttmacher said: “Genomic sequencing has 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”.
Comment: This is a fairly drastic move; the ethics of genome sequencing at birth (sometimes dubbed ‘barcoding babies’) has already been hotly debated. The projects will all include consideration of important issues such as parent communication and ethics. However, it will be interesting to see just how far genomic medicine has progressed; can such a move really improve care for babies, when applied in the context of newborn screening? Or, given the vast number of genetic variants of unknown clinical significance, is it just opening a can of clinical and ethical worms to employ it at this stage? 

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