We often think of genetic mutations as ominous, life-threatening mistakes in our biology. But the reality is actually much different: every person is born with about 60 genetic mutations.
Often those mutations are neither harmful nor helpful, just a quirk in our biology. But for a parent or expectant parent, discovering that a child has a mutation can be an agonizing and upsetting experience.
Seattle-based health journalist Bonnie Rochman has experienced that journey first hand, and she explores the conundrum genetic testing presents to parents in her book: “The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids — and the Kids We Have.”
We speak to Rochman on this episode of the GeekWire Podcast to get her personal and professional take on the practical and ethical questions parents face when given the opportunity to peer into their children’s genes.
The genesis of the book came when Rochman was pregnant with her third child. An early ultrasound revealed something unusual: her daughter had a cyst on her brain. Rochman’s doctor told her it was probably nothing and would likely go away as the baby developed, but there was also a chance it could be a sign of a rare and serious genetic disease.
“Which sounds completely terrifying, or sounded completely terrifying to me, at least,” Rochman said.
She decided to immediately have a genetic test done that would tell her if the baby had this disease. Thankfully, she didn’t, but the test did show something else: Rochman’s baby had a genetic mutation on her ninth chromosome, a small change that likely wouldn’t have any impact on the baby’s health.
“I was wholly unprepared for that,” Rochman said. These kinds of incidental findings, as they’re called, are getting more and more common as genetic science and technology advances, meaning more parents will be in Rochman’s shoes in the years and decades to come.
Rochman said she’s glad she knows about the quirk in her daughter’s genes, but she sympathizes with parents who don’t go looking for genetic information.
“There was a time when I was wondering, ‘do I wish that I hadn’t known that information?’ And I think a lot of parents will be presented with that — how much do you want to know?”
In some cases, she says, it makes sense to have a child’s genes tested. One example is if a child is sick and doctors aren’t able to diagnose them.
But some areas are more gray, for medical professionals and parents alike. If a parent has a genetic mutation that makes them more likely to develop cancer, should they test their children? What if their child might have a genetic disease that has no cure and can’t be prevented?
And how would parents feel if, like Rochman, they discovered their child had a harmless genetic mutation?
We dive into these questions and more on this episode of the GeekWire Podcast.
Listen to our conversation above or download it as an MP3, and don’t forget to subscribe to the show on iTunes or wherever you get your podcasts.
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