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

09 September 2013

By Dr James Heather

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'.

SOURCES & REFERENCES
Bloomberg | 04 September 2013
 
National Institutes of Health (press release) | 04 September 2013
 
ScienceInsider | 04 September 2013
 
Nature News Blog | 04 September 2013
 
Los Angeles Times | 04 September 2013
 

RELATED ARTICLES FROM THE BIONEWS ARCHIVE

12 January 2015 - by Dr Charlotte Warren-Gash 
All newborn babies in England are now to be offered screening for four rare life-threatening genetic disorders...
21 July 2014 - by Dr Sarah Testori 
Genetic Alliance UK held its annual conference to discuss and reflect on the advances in genomic sequencing and to ask (and answer) why is it important, and how can it help to improve disease treatment...
18 November 2013 - by Dr Stuart Hogarth 
Is the newly launched Personal Genome Project's public disclosure policy the best response to the difficulties of safeguarding genomic confidentiality?...

15 July 2013 - by Richard Fadok 
Whole genome sequencing suggests that around half of all people with autism may be carriers of genes already associated with the condition...
10 June 2013 - by Dr Shanya Sivakumaran 
Leading international healthcare, research, funding, and technology organisations will work together in a non-profit alliance to enable large-scale sharing of genetic data...
25 March 2013 - by Nina Chohan 
The American College of Medical Genetics and Genomics has published a report recommending that patients who have their genomes sequenced should automatically be told of incidental genetic findings....
08 October 2012 - by Dr Lucy Freem 
A streamlined method to find disease-causing single gene mutations has been developed to aid diagnosis of critically ill infants...

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