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
'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'.