Posts Tagged ‘ genome ’

Want to Know Your Child’s Potential Risk for Diseases — Years Before a Diagnosis?

Tuesday, March 10th, 2015

If given the choice, would you want to know about your child’s risk for hereditary diseases years before they surface?

A new advancement in technology, called whole genome sequencing, will now make that possible—and 58 percent of parents surveyed have already expressed interest in testing their children, according to a study conducted by the University of Michigan Health System.

Whole genome sequencing examines DNA using a small amount of blood or saliva in order to determine a risk of genetic disease, or to diagnose active diseases or their symptoms. The technology is currently being used for patients who have yet to be diagnosed but who are displaying symptoms.

The research, which appears in the journal Public Health Genomics, was conducted to gauge the population’s interest in using whole genome sequencing to discover their potential for certain genetic diseases (such as cancers or Alzheimer’s) in the future—and around 59 percent of the total population confirmed their interest while almost 62 percent showed interest for themselves, reports Science Daily. Also, nonparents who were planning to have their first child within the next five years were more interested in whole genome sequencing than current parents were.

As with the introduction of any new medical technology, there are always additional factors to consider. “While sequencing could reveal risk of a handful of rare and preventable diseases, authors note there is concern for how accurately the information would be interpreted and how useful it will actually be for patients,” notes Science Daily.

When it comes to testing children, some experts believe it should be delayed until the child is old enough to understand and participate in the decision themselves. Because a disease your child may be at risk for—but may not even end up having—could take years to emerge and certain cures may still be unavailable, early knowledge may not be beneficial. Instead of dwelling on an uncertain reality, making more healthful choices may be beneficial.

“We want our patients to be active participants in their health; however, the value of genome sequencing in helping individuals understand their disease risks is still controversial, especially for children,” said Daniel Dodson, the study’s lead author.

Caitlin St John is an Editorial Assistant for who splits her time between New York City and her hometown on Long Island. She’s a self-proclaimed foodie who loves dancing and anything to do with her baby nephew. Follow her on Twitter: @CAITYstjohn

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Image: DNA strand via Shutterstock

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Parents Debate Infant DNA Mapping

Thursday, September 5th, 2013

A new series of US government-funded studies investigating the possibility of screening the entire genome of newborn infants is raising excitement among some parents, concern among others.  At issue is whether such DNA mapping would help parents prepare and cope with their kids’ health conditions, or whether the tests would provide more information than parents can reasonably be expected to handle. NBC News has more:

Do parents even want to know what fate might await their babies? Can doctors find out anything useful medically? Do you get information that freaks you out? All over the country, thousands of newborns will be enrolled in this experiment, the National Institutes of Health announced on Wednesday.

They’re not necessarily looking for new diseases in the babies yet, says Dr. Eric Green, director of the NIH’s National Human Genome Research Institute (NHGRI). They want to know what happens if you even go down this road of whole-genome sequencing.

Now’s the time, he said, as companies begin offering these tests on the market and as more and more people seek to find out just what their genes say about their health. “Everything is moving so fast,” Green told reporters on a conference call.

“We really want to take advantage of this window of opportunity to answer key questions about the technical, ethical, social implications while we have a chance to do it,” Green added. “If it turns out this is something that is worth doing, we would answer questions about how to make it most effective.”

Green’s genome institute and the National Institute of Child Health and Human Development (NICHD) has set aside $25 million for the next five years to study the matter, starting out with $5 million to four institutions: Brigham and Women’s Hospital and Boston Children’s Hospital; Children’s Mercy Hospital in Kansas City; the University of California, San Francisco and the University of North Carolina at Chapel Hill.

Each center will take a different approach. For example, UCSF will test blood drops previously collected from 1,400 California children who were already given newborn screening tests. Boston Children’s will recruit 480 newborns starting early next year, giving half the standard screening and half an extra genome test.

Most of the 4 million children born in the U.S. each year get a heel-prick test that takes a drop of blood to screen for genetic diseases such as phenylketonuria, sickle-cell disease, cystic fibrosis and thyroid disorders. The precise panel differs from state to state but usually covers around 30 disorders.

One reason to do the tests, says NICHD director Dr. Alan Guttmacher, is to intervene early, before the child gets sick. Phenylketonuria or PKU is a classic example. It’s an inability to process an amino acid called phenyl lanine, which can build up in the brain and cause permanent damage. “By knowing the baby has the disease early, parents can modify the baby’s diet to remove phenylalanine and prevent damage,” Guttmacher said. “Prevention is the only effective solution.”

The heel-prick tests cost around $100. Whole-genome screening covers not only known genetic defects, but the entire DNA map. Commercial tests – which don’t look at every stretch of DNA – cost about $5,000.

Image: Infant getting blood test, via Shutterstock

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DNA Testing of Parents to Paint Picture of Babies’ Health Before Birth

Friday, June 8th, 2012

A blood test for pregnant women and a saliva test for expectant fathers are all researchers now need to map out nearly the entire genome of a fetus, according to a new study published in the journal Science Translational Medicine.  The New York Times reports:

The accomplishment heralds an era in which parents might find it easier to know the complete DNA blueprint of a child months before it is born.

That would allow thousands of genetic diseases to be detected prenatally. But the ability to know so much about an unborn child is likely to raise serious ethical considerations as well. It could increase abortions for reasons that have little to do with medical issues and more to do with parental preferences for traits in children.

“It’s an extraordinary piece of technology, really quite remarkable,” said Peter Benn, professor of genetics and developmental biology at the University of Connecticut, who was not involved in the work. “What I see in this paper is a glance into the future.”

Image: DNA test, via Shutterstock.

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