Genome sequencing in babies to begin as part of study

Published December 30, 2014

Doctors expect soon to begin sequencing the genomes of healthy newborn babies as part of a government-funded research program that could have wide implications for genetic science.

The research, to be conducted at major hospitals around the country, stems from a growing recognition that genome sequencing could someday be part of routine testing done on every baby. Such testing could provide doctors and parents a vast pool of data likely to reveal a wider range of potential medical risks than the traditional heel-prick test, in which a small sample of newborns blood is taken to check for more than two dozen possible conditions.

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, says Robert C. Green, a geneticist and researcher at Brigham and Womens Hospital in Boston, which is participating in the research program. In the next five to 10 years, as costs come down and interpretation is more established, it will increasingly be to everyones advantage to have sequencing information integrated into their care, he says.

Early identification of diseases can save a childs life or lead to interventions that change the course of the disorder. Whole genome sequencing or whole exome sequencing, which focuses on the 1% to 2% of the genome believed to be responsible for most genetic disorders, can help identify mutations associated with some diseases. Some hospitals already perform sequencing on a small number of newborns who show signs of illness or developmental disorders. Those experiences so far suggest the procedure can help doctors identify the underlying problems.

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Genome sequencing in babies to begin as part of study