Seattle writer Bonnie Rochman has a new, smartypants book on genetic testing. It’s not a “how-to,” per se, rather a storytelling look and near confessional at how confusing it can feel when you’re pregnant (or plan to be) and faced with the marketplace of ideas and opportunities for knowing more from genetic testing. Simply put, she articulates the quandary nestled in the “to know” or “not to know” more about your expected baby, genetically speaking.
In the book (and the podcast and TV seg she joined me for — included below) Bonnie talks of her own journey as a mom but also interviews researchers, geneticists, families, expecting parents, and ethicists along the way. It’s researched; the pages of notes and references at the end could overwhelm, if you let them. Thankfully, the book reads like a story and yet Bonnie doesn’t shy away from complex ethical spider webs like the implications (for some) in getting tested for fatal diseases and the option to enter the abortion debate. More than anything, Bonnie takes on the reality that when it comes to prenatal genetic testing, the tests themselves, the official guidance, and the technology itself is moving faster than our public and medical understanding…
Who you are and where you seek care may change what advice you get. She explains why.
When I did a Google search on prenatal genetic testing after I read the book and prepared for the podcast and TV seg, I was led to sites that didn’t necessary help me understand more about what I would want to know. I found general, outdated lists. As far as I know as a pediatrician, there isn’t one site that helps expecting parents understand just when and what to test for and why. Thankfully, we use our obstetricians, family docs, genetic counselors and pediatric specialists to help guide us to the best ones. But I enjoyed the way this book empowered me as a mom. That I could learn about the science, feel out my own philosophies, and embroider my own ethics into these kinds of decisions themselves.
The book doesn’t stay at the surface. Cutting truths in this sentiment from Dr. Arthur Caplan (incidentally one of my professors when I studied medical ethics) included in the book:
As the bioethicist Arthur Caplan has noted, genetic information is ‘exquisitely sensitive.’ Worrisome genetic test results can make people feel that ‘they harmed their children, or that they themselves are flawed. Most people don’t feel that way if their kidneys start working inefficiently. They don’t say, ‘I’m a flawed human being.’ But they feel that way about their genes.
Bonnie points out that we may make differing decisions from our neighbors and relatives, friends and peers at times when it comes to getting tested before, during, and after pregnancy. And it’s okay to make different decisions from one pregnancy or another (I did!).
Bonnie is a deft writer, having written about parenting and health for publications including The New York Times Magazine and The Wall Street Journal. I met her years back when she started to interview me for stories and I built up trust in the work she’s created. She is a former parenting columnist for Time.com and staff writer for Time magazine. The new book, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—And the Kids We Have is her most comprehensive look yet. Bonnie is a mom to 3 and has her own personal story about genetic testing that led her to write this book. It’s a tough subject to cover, fraught with political, religious and philosophical implications yet her tone stays neutral throughout. I pushed her to share learnings from all of this research and writing. A tiny peek at some ideas from the book and a few ideas from Bonnie herself:
Genetic Technologies Are Re-Shaping Parenthood
- Carrier Screening: Testing that’s done to see whether you or your partner carry a genetic mutation that could cause a serious inherited disorder in your baby. Some of the more common disorders screened for include cystic fibrosis, sickle cell disease, thalassemia, and Tay-Sachs disease, but there are more than 100 others that can be tested for. More and more companies are promoting universal, expanded carrier screening of both parents.
- Detecting Problems Prenatally: Noninvasive prenatal testing can now detect Down syndrome, the most common chromosomal condition, in the first trimester. These tests can be confusing to some expecting moms and partners and know that the names of the tests vary from clinic to clinic. SO if you’re chatting with a friend about a test know that what terms you’ve heard at one clinic may vary from what she hears. Some providers won’t offer some tests unless the mother is over 35 years of age (risk vs benefit plays a part here). Talk to your OBGYN and/or a genetic counselor about all your options and what they mean. Ask again if you don’t understand. It’s okay to opt-out and it’s okay to opt-in. Let your team (this includes your loved ones and your medical team) help you take your time when you have it.
- Tests such as chromosomal microarray can find small deletions and duplications.
Sequencing Genomes Even Before Birth?
- Bonnie reports several university medical centers are conducting research to explore whether it’s a good idea to sequence, or decode, the genome of every baby born in this country. It may be that in upcoming decades all babies will have the opportunity to be sequenced even before they are born. What we do with that information will likely change and change and change again.
- If entire sequences are done more routinely, more diseases would be detected in our babies, but ethical dilemmas arise with what to do about that. Not just with the information but in terms of how much information to share with the parents. For example, should you tell parents that their infant daughter has a breast cancer mutation years before she’d develop breasts? Research is still unfolding as to what knowing these kinds of risks does to children and their parents. “Are the kids all right? When breast cancer runs in the family.”
Rochman on “How To Choose A Test”
- It’s important to know what sort of person you are — do you seek out information? Or do you prefer to remain blissfully ignorant? If you are the kind of person who finds lots of information overwhelming, you may not want to take advantage of prenatal tests that can yield results that are uncertain or inconclusive.
- It’s also important to carefully consider what you would do if you were to find out that your fetus has a problem. If you would continue the pregnancy no matter what, you may not want to have extensive prenatal testing.
- Research has shown that knowing ahead of time about a diagnosis can help parents prepare emotionally and logistically for the birth of a child with special needs.
- Feel confident in your choices on genetic testing, even if they may vary from one pregnancy to another.
Recommendations are changing all the time, in February 2017, after Bonnie’s book was published, The American College of Obstetricians and Gynecologists (ACOG) expanded its guidelines on carrier screening to include screening for spinal muscular atrophy (SMA) as well as a complete blood count to assess risk of hemoglobinopathy.
5 Reasons Parents May Consider Opting For Prenatal Testing
Bonnie simplifies things here for those who may want to do a lot of testing:
- You are an eyes-wide-open kind of person who likes gathering lots of information.
- You don’t like surprises.
- You are open to test results changing the course of your prenatal care.
- You want peace of mind – at any cost.
- You have a tolerance for risk and uncertainty.
You can learn more about genetic testing and Bonnie’s book by listening to our Seattle Mama Doc podcast. To buy The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids – And the Kids We Have visit www.bonnierochman.com or Amazon.com. You can also read Bonnie’s recent article on Slate.com called What Kind of Baby Do You Want?