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Is full genome analysis of newborns worthwhile? $25 million programme to investigate

9 September 2013
Appeared in BioNews 721

The US National Institutes of Health has unveiled plans to trial sequencing the DNA of newborn babies, to test if it could improve paediatric medical care. The five-year, US $25 million pilot also plans to assess the wider social and ethical implications of recording genetic data for large numbers of infants.

Almost all babies born in the USA receive a heel-prick blood test, which screens for indicators of a number of diseases, including cystic fibrosis, phenylketonuria (PKU) and sickle-cell anaemia. The falling costs of DNA sequencing might allow a test which detects a greater number of diseases and leads to better patient care.

Four hospital and university sites across the country have received US $5 million each for the year to attempt different forms of genetic test. Half of the centres plan to sequence the entire genome, that is, all of a person's DNA. The other two will only look at the one to two percent of the genome that codes for proteins - the exome - which is cheaper and faster than sequencing the whole genome.

'This initiative will help us better understand how we can appropriately use this [genomic] information to improve health and prevent disease in infants and children', said Dr Eric Green, director of the National Human Genome Research Institute, one of the responsible funding bodies.

Between them, the four centres aim to assess genomic information in a number of paediatric care settings, from healthy births to neonatal intensive care units. They will compare genomic screening to current screening methods, seeing not only if it improves the number and speed of diagnosis of genetic diseases, but how it changes the clinical care, and whether this justifies the cost.

In addition, the program will also investigate the response to the DNA sequencing from the parents and doctors of the children, to better understand how to integrate such services.

Potential complications and risks will also be explored, hoping to address worries of potential negative consequences. As Dr Robert Green, one of the principal investigators involved, told Bloomberg: 'This is a place where questions of privacy, empowerment, the potential for misunderstanding and miscommunication all collide'.

With greater screening comes a greater risk of false positives, where babies might receive a diagnosis for a condition they don't have. Analysis of such sensitive information might also pose a large privacy challenge. However, researchers are keen to allay fears; the trials which involve storing genomic information for future reference are voluntary, while other experiments such as those testing the efficacy of the screens can use anonymised data.

'Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life', said Dr Alan Guttmacher, the director of the other funding body, the Eunice Kenedy Shriver National Institute of Child Health and Human Development. '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'.

Hundreds of Newborn Babies’ Genomes Will Be Analyzed in Studies
Bloomberg |  4 September 2013
NIH program explores the use of genomic sequencing in newborn healthcare
National Institutes of Health (press release) |  4 September 2013
NIH Studies Explore Promise of Sequencing Babies’ Genomes
ScienceInsider |  4 September 2013
Scientists to sequence genomes of hundreds of newborns
Nature News Blog |  4 September 2013
Sequencing baby's genome: a help in treatment or too much information?
Los Angeles Times |  4 September 2013
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