Doctors to begin scanning fetus’ entire genome for genetic abnormalities

If you could gaze into a crystal ball and discover whether your newborn baby might have health problems, would you want to know? In April, doctors in Boston will begin sequencing the genomes of healthy babies for the first time to explore the benefits and risks of sequencing at birth.

“We’ve been at an impasse for the last few years – we’ve had the technology to deliver information about future health, but we’ve not been able to use it because of all the issues around it,” says Robert Green of Harvard Medical School, who is conducting the BabySeq project alongside Alan Beggs at Boston Children’s Hospital.

Pregnant women already have blood tests to assess their risk of passing on certain genetic diseases, such as cystic fibrosis. Those at high risk may choose to have further tests, such as amniocentesis, to determine if their unborn child has chromosomal abnormalities. But we’re on the cusp of knowing so much more.

In 2012, two groups showed that it is possible to sequence a fetus’s entire genome using fetal DNA circulating in the mother’s blood. While this is still some way from being used in the clinic, whole genome sequencing at birth is not. “Despite the well-recognised limitations in the predictive value of sequencing, there are many companies out there that feel they could be offering newborn sequencing right now,” says Green. “We felt it was our scientific responsibility to begin this kind of sequencing so if harms do occur we are available to mitigate them and have an understanding of them, before it is launched unmonitored on an unsuspecting public.”

Read full original article: Baby genes to be mapped at birth in medical first

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