Peeking into one's DNA

Oct 13 2013, 00:44 IST
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The 4 mn US babies born annually already undergo blood tests for signs of at least 30 rare diseases. AP The 4 mn US babies born annually already undergo blood tests for signs of at least 30 rare diseases. AP
SummaryA large research project is decoding the DNA of hundreds of infants in US. But should it do so and how far will it go?

A large research project is decoding the DNA of hundreds of infants in US. But should it do so and how far will it go?

Little Amelia Sloan is a pioneer: Shortly after her birth, scientists took drops of the healthy baby’s blood to map her genetic code.

Amelia is part of a large research project that is decoding the DNA of hundreds of infants. New parents can soon start signing up for smaller studies to explore if what’s called genome sequencing —fully mapping someone’s genes to look for health risks — should become a part of newborn care.

It’s full of ethical challenges.

Should parents be told only about childhood threats? Or would they also want to learn if their babies carried a key gene for, say, breast cancer after they are grown? Could knowing about future risks alter how a family treats an otherwise healthy youngster? And how accurate is this technology — could it raise many false alarms?

This is the newest frontier in the genetic revolution: how early to peek into someone’s DNA, and how to make use of this forecast without causing needless worry.

“This was something that was looming over the horizon,” said Dr Alan Guttmacher, a paediatrician and geneticist at the National Institutes of Health. Last month, the NIH announced a $25 million, five-year pilot project in four cities — Boston, San Francisco, Chapel Hill, and Kansas City — to start answering some of the questions before the technology is widely offered for babies.

Today, the four million US babies born annually have a heel pricked in the hospital, providing a spot of blood to be tested for signs of at least 30 rare diseases. This newborn screening catches several thousand affected babies each year in time for early treatment to prevent death, brain damage or other disabilities. It’s considered one of the nation’s most successful public health programmes.

A complete genetic blueprint would go well beyond what that newborn blood spot currently tells doctors and parents — allowing a search for potentially hundreds of other conditions, some that arise in childhood and some later, some preventable and some not.

“If I truly believed that knowing one’s genome was going to be transformative to medicine over the next decade or more, then wouldn’t I want to start generating that information around the time of birth?” asked Dr John Niederhuber, former director of the National Cancer Institute who now oversees one of the

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