As reported by The Wall Street Journal, the research will be conducted at major hospitals and health institutions around the country. The project “stems from a growing recognition that genome sequencing could someday be part of routine testing done on every baby,” the paper said in its online edition.
That kind of testing, backers say, will give doctors and parents lots of information which could reveal a wider range of possible risks to their children’s health later in life — much more so than the current traditional heel-prick test in which blood is taken from a small number of newborns to check for dozens of potential health issues.
“All of medicine is genomic medicine”
As further reported by the WSJ:
Genome sequencing of infants also someday could provide people with a genetic blueprint to carry through life. The data could be used years later to help develop personalized medical treatment, such as choosing the most effective asthma medication.
“We are entering an era where all of medicine is genomic medicine,” Robert C. Green, a geneticist and researcher at Brigham and Women’s Hospital in Boston — a participant in the government program — told the paper. “In the next five to 10 years, as costs come down and interpretation is more established, it will increasingly be to everyone’s advantage to have sequencing information integrated into their care.”
Supporters of the project note that identifying diseases early on can save a child’s life or at least lead to treatments and interventions that could change the progression of the disorder. Scientists say that whole genome or whole exome sequencing, the latter of which concentrates on the 1-2 percent of the genome believed responsible for the bulk of genetic disorders, can help find mutations that are linked to some diseases.
Already there are some medical facilities that perform sequencing on a fraction of newborns who demonstrate signs of sickness or developmental problems. That limited sequencing has nonetheless provided doctors with information that they can use to treat underlying conditions.
There are a number of issues and questions surrounding genome sequencing in newborns, however. Most of the human genome is shrouded in mystery, and there is no guarantee that, once it is fully sequenced, doctors will have the capacity to utilize and interpret data provided by the sequencing.
Also, there is an added expense factor to consider. Traditional heel-prick testing costs about $25; while the price of genome sequencing has dropped dramatically, it still costs $1,000 or more.
Some families don’t want to know
And finally, there are ethical considerations: Should physicians inform parents of test results which reveal that their newborn baby has some mutations that doctors are not even certain will cause problems later in life?
Indeed, some families have expressed concerns and discomfort with genetic information and as such have opted out of having their newborns tested (the program is voluntary, WSJ notes). However, if the sequencing process were to become universal for newborns, “there will need to be population-wide education and acceptance, which I foresee will take longer than solving the technical problems,” Joshua E. Petrikin, director of neonatal genomics at Children’s Mercy Hospital in Kansas City, Mo. — which obtained federal funding to study sequencing in sick newborns — told the paper.
Last year, the National Institutes of Health awarded $25 million in total to four projects aimed at examining separate aspects of sequencing genes in newborns. Additional institutions participating in the project include the University of North Carolina at Chapel Hill and the University of California, San Francisco, the latter of which will “sequence previous heel-prick samples with the aim of improving the accuracy of newborn screening,” the WSJ reported.