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Science enables us to know much more than ever before. We can be aware of what disorders we could pass on to our kids and we can conduct screenings on children to discover irregularities in their genes. Such screenings can help doctors catch issues early but they can also put a huge burden on families.

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  • Bonnie Rochman, journalist and author of The Gene Machine: How genetic technologies are changing the way we have kids—and the kids we have

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The ethics and impact of genetic screenings on children

Marty Peterson: Parents all want their children to be safe and that starts before they’re even born. With modern technology, parents and prospective parents have more access to data than ever before, which means more informed decisions on whether to conceive and what the risks could be. But like most technologies, genetic technology comes with a fair amount of ethical dilemmas and tough decisions.

Bonnie Rochman: The technology is using sequencing, which is reading a person’s genome, a person’s genetic code to provide deeper ,more comprehensive access to genetic data than we have ever before had the ability to glean. So what that means for parents is that they can potentially find really small genetic blips, I like to call them, genetic deletions or duplications of DNA that are often uncertain in terms of what their implications are. So we’re really at this point in time where our technology has actually far outpaced our understanding of what all of the information means.

Peterson: That’s Bonnie Rochman, author of the Gene Machine: How Genetic Technologies Are Changing The Way We Have Kids- And The Kids We Have.

Rochman: The upshot for parents is that sometimes this information can be incredibly illuminating or it can be incredibly overwhelming…or both.

Peterson: Rochman says the genetic data mining can begin before conception even takes place, when parents are considering whether or not having a child is right for them.

Rochman: There’s some information that can be determined, like through carrier screening for example, you can figure out what the chances of passing on a fatal genetic disease to a child. So the advantage of learning about that before pregnancy means that you and your partner would be able to, basically go into pregnancy fully informed, knowing what your risks are of conceiving a child that does have a fatal genetic disease. There are other diseases that can be detected in which it’s not the actual disease that’s detected it is an allele, which is like a form of a gene that means you are at higher risk for something.

Peterson: For example, we can test patients on how likely it is they pass along an allele that could become commons diseases like breast cancer.

Rochman: So, if you have what is called a BRCA mutation you then have a 50% chance of passing that onto your baby, to your child.  So you could test and know, theoretically, that your child has this mutation, but you have to keep in mind that in a situation like that a mutation for breast cancer simply means that you’re at increased risk of developing breast cancer, you know down the road, it doesn’t mean that you necessarily will develop it. So there are, you know, different grades of severity. In some cases these genetic tests actually can determine whether there is actual disease present, and in some cases you’re only determining heightened risk.

Peterson: Similar screenings are also conducted on a child after birth. These screenings can detect problems with genetic code.

Rochman: One of the least controversial, and most helpful ways, in which genome sequencing is currently being used is to aid in the diagnosis of sick children. So kids who are not developing appropriately or have some mysterious disease that doctors have just simply not been able to figure out.  So genome sequencing is increasingly used to crack medical mysteries.

Peterson: Rochman says that sometimes, these screenings can do a lot of good by providing families and doctors with the information they need to properly treat certain health issues.

Rochman: There is a family in North Carolina whose child had pretty suddenly started to deteriorate. Her upper body strength just really started to go. She’s a toddler and she got to the point where she couldn’t lift her arms above her shoulders. And she was taken to Duke Hospital, at Duke University, and the presumed diagnosis was that she had some sort of autoimmune disorder, and she was scheduled for chemotherapy to wipe out her immune system and then hopefully repopulate it, basically reboot this baby. And a geneticist was brought in to consult and she thought that it was really plausible that this toddler had some sort of genetic disorder. And she persuaded the parents to have this child’s genome sequenced, and the weekend before this little girl was due to begin chemotherapy, which is of course toxic, this doctor was able to call the parents and say, “your baby doesn’t need chemo, your baby needs a vitamin.” So she had a very, very, very rare disorder that was diagnosed via genome sequencing, and it was actually able to be treated with riboflavin, huge doses of riboflavin, and that has corrected the issue.

Peterson:: According to Rochman, getting a genetic screening for a child can sometimes even shed light on important information regarding a parent’s health.

Rochman: You can imagine a scenario wherein a baby is tested, found to have a breast cancer mutation, and that mutation has most likely to come from either the mom or the dad. But lets say the mom or the dad doesn’t know that they have that mutation and then you’re able to inform them. Well then that parent, they’re able to have increased surveillance, if it’s a woman she could have a prophylactic mastectomy, like Angelina Jolie did, there are all sorts of ways to basically up the surveillance and to really be more vigilant. And by telling the parents that their baby has a mutation you theoretically save the parent’s life.

Peterson: But Rochman says there are also examples where testing a child’s genes can do families more harm than good.

Rochman: In the book I tell the story of a couple whose son was found, through a hearing test that’s administered to all newborns at birth.  They found that he had some hearing loss, doctor’s wanted to figure out the cause of his hearing loss, so in the course of seeing various specialists he was referred to a genetics clinic and got a genetics workup. So what happened in this family’s case, is that the genetic workup did not reveal any reason for the hearing loss however it did reveal that he had a gene deletion, he was missing several genes. And his parents were extremely upset that information was shared with them, because it didn’t correlate, you know, one on one with the certainty of a specific disease. And now every time that they, you know they look at him, they think, “when’s the other show going to drop? Is something bad going to happen?” That’s the fascinating thing about genes, is in so many cases genes are not necessarily a certainty, and in this child’s case he may grow up just fine.

Peterson: Because the tests may create a tough mental burden for patients and their families. Making them worry about something that may never develop, Rochman says results are generally only shared if a child is in immediate danger, and that adult-onset diseases are not disclosed to families. Still, the debate rages on.

Rochman: There’s a whole conversation, and a big ongoing conversation, going on within the genetics field and among bioethicists about how much information is appropriate to share with parents. So some providers, some doctors, are of the belief that we should only share information if it’s what’s known as “actionable.” But there are other doctors who feel that it’s the patient’s information, it’s your data, your healthcare data, and all of that belongs to you.

Peterson: Bonnie Rochman’s book the Gene Machine: How Genetic Technologies Are Changing The Way We Have Kids- And The Kids We Have is available now. For more information on all of our guests, visit our site, viewpointsonline.net. You can find us on twitter @viewpointsradio. Our show is written and produced by Evan Rook, our executive producer is Reed Pence, our production director is Sean Waldron. I’m Marty Peterson.