As the nascent field of genetic testing advances, expectant parents face a dizzying array of new and difficult questions. Would you want to know if your child will have Down syndrome? Or if your baby is genetically predisposed to Alzheimer’s disease? What about if the fetus has a gene duplication that might mean nothing ― or could spell a serious genetic disorder?
The sci-fi world of designer babies may not be here yet, but modern genetic technology is already fundamentally changing pregnancy and parenting. Thanks to advances in prenatal and postnatal genetic testing, parents now have access to unprecedented amounts of information about their children’s genetic makeup, biology and susceptibility to disease.
But as science journalist Bonnie Rochman notes, this wealth of new data has as much potential to inspire anxiety and confusion as it does to enlighten. In her new book The Gene Machine: How Genetic Technologies Are Changing The Way We Have Kids ― And The Kids We Have, Rochman dives into the promises and challenges of genetic advances likely to shape our reproductive futures.
The Scope recently sat down with Rochman to learn more about this exploding field of medicine.
What kind of information do parents get from prenatal testing? Why would someone choose to get this testing done?
Perhaps the most important thing when you’re approaching prenatal testing is to completely understand what you’re signing up for and what information that test can reveal. Research has shown, and anecdotally a lot of counselors say, that women don’t really understand these tests. That’s been my experience in interviewing a lot of the parents who appear in my book. Prenatal testing is presented in a sort of de facto manner, and you just go along and do it. I think it needs to not be presented in a manner that assumes that every woman wants this sort of testing.
I think what happens a lot of times is that women are unprepared for what they’re going to learn. The more sophisticated the test, the more that women are at risk of learning information that is unclear or uncertain ― then you have to decide what to do with that information and how to process it. If you’re an anxious person or a real worrier, you may not want to have a prenatal test that has the potential to reveal lots of unclear information. You may want to take a test that’s narrower in scope, or you may not want to take one at all.
Another important point is that you need to understand why you’re taking this test in the first place. If you don’t believe in abortion, you may not want to do any of these tests. So it can get you on the path of anxiety and this treadmill where you can’t get off.
What’s been some of the criticism leveled by the disabled community?
A lot of people in the Down syndrome community have been very wary of what’s called non-invasive prenatal testing, which is a blood test that’s able to detect Down syndrome and some other chromosomal conditions in the first trimester, because they think it’s just a fast-track to abortion.
Even though you know on an intellectual level that anything and everything could go wrong, every parent is expecting a healthy baby. But even the term “healthy baby” ― parents of children with Down syndrome can take issue with that because that baby may be perfectly healthy, they just have an extra chromosome. So what do you consider healthy? Even that word has become politicized.
Is there a reason to do prenatal testing if abortion isn’t something you’re considering?
There’s plenty of reasons you might want to have that test, even if you are planning to continue your pregnancy. ... The main reason you may want to have prenatal testing, even if you don’t want to have an abortion, is to prepare for the birth of a child with special needs. You may want to change the hospital where you’re going to deliver, or you may want to do a bunch of research ahead of time so that you know what to expect. You may to line up some specialized doctors or connect with parents who have a child with the condition. You may want to assemble community and family resources, because things may not go as smoothly as if you are giving birth to a child who didn’t have any kind of genetic condition. You can be prepared, and there’s a lot to be said for that as well.
There’s a significant range in the types of risk information people are given. Some test results are crystal clear, but others reveal genetic mutations that might mean something and might mean nothing. What’s the spectrum of risk information that people can expect from these tests?
Before pregnancy, you and your partner can do carrier screening, which tests for over 100 diseases that only happen if both partners carry a mutation of the same diseases. So, if both you and your partner have that, then there’s a 25 percent chance of having a baby that’s affected. That’s a sure thing that your child will have that one in four chance of the disease.
Doing an invasive test like CVS [chorionic villus sampling] can determine Down syndrome with certainty. But if you do fetal genome sequencing (which is not very common these days, but some people think is the wave of the future) or a chromosomal microarray, that can reveal genetic duplications and deletions ― so little bits of chromosomes that are added or missing. These duplications or deletions can sometimes have very profound effects, they can have mild effects, and they can sometimes have no effects. The challenge here is that we’re at a point where our technology and our abilities are far outpacing our understanding of the science. That’s where it can get really murky and confusing.
“The challenge here is that we’re at a point where our technology and our abilities are far outpacing our understanding of the science."”
It must be really difficult, in many cases, for people to make health decisions based on this information.
Yes, and there’s no shortage of stories of people who are really grappling with this uncertainty. One case I looked at was a mom who was an attorney in New York City ― she and her husband decided that they were going to take the chromosomal microarray. They decided ahead of time that if there were any major problems, they were not going to proceed with the pregnancy. They got their results back, and there was both a gene duplication and deletion. When they got the results, they leaned towards abortion. But after talking to their doctor, they changed their minds. The doctor told them that they had 80 percent odds that everything would be fine, and they said, “We’re going to take those odds.” They continued the pregnancy, and I met the little boy. He’s just adorable and he’s doing all the things that a baby of his age should be doing.
So you have this information that can be very unclear. But I think the important thing to remember is that all of us have these genetic mutations, there’s no such thing as a person with no genetic mutations. That saying, “no one’s perfect” ― it’s true.
What procedures and safeguards should be put into place so that people can make the best possible decisions based on this genetic information?
One of the most important things is genetic counselors. With all of this data, people need a guide to help them figure out what these risks mean. Often, physicians may not have the time to spend explaining something so that parents feel completely reassured, and that’s where genetic counselors can come in and explain what test results really mean. They can also explain what the tests reveal in the first place, so you can make an educated, informed decision about whether you actually want to have this information.
We live in an information age, and this is just one more arena in which data is king. We need someone to guide us through the maze, and that role is played by genetic counselors.
This interview has been lightly edited for length and clarity.