With the genetic screening of infants and embryos sparking hot-button debates in medicine, health care, and bioethics, smart and practical advice for would-be parents is crucial. Award-winning health journalist and parenting columnist Bonnie Rochman has published a book on these issues and the parents who wish to navigate them, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—and the Kids We Have, already widely-reviewed and acclaimed. I recently caught up with Bonnie to discuss The Gene Machine and the many issues it raises.
CL: In reading and thinking about your fascinating book, I’m struck by how often tension arises for the parents you interview between what they could know about the genetic makeup of their child, including what specialists are urging them to know, and how prepared or resistant they are to processing that knowledge. You’re clearly on the side of the right and even need to know — you open the book with Socrates declaring, “The unexamined life is not worth living,” a strong statement in this context. But as you point out, sensitive issues arise over genetic information, with patients sometimes feeling they become “hostages to fortune.” Could you say more about that tension and how it might be navigated?
BR: The tension between what parents could potentially know about their children’s DNA and what they actually want to know is a theme that’s woven throughout the chapters. Much of this stems from a lack of understanding about what genetic tests in general reveal on a large scale (risk for disease versus actual disease, for example) and the pros/cons of specific tests. How can this confusion be addressed? By relying on genetic counselors! I envision a world in which genetic counseling is part and parcel of the whole pregnancy package. Ideally, wannabe parents would access this counseling before testing so that they can make informed decisions about which tests, if any, are right for them. An interesting side note is that I often heard from parents that they chose to do genetic testing with their first pregnancy but not with their second, or vice versa. So just because you decide one way at one time doesn’t mean you will necessarily make the same decision in subsequent pregnancies.
CL: In the polling you cite, “83 percent of new parents expressed interest in sequencing their babies’ genomes,” largely because there are preventive or helpful steps they can take for a host of medical conditions. At the same time, most of the parents you interviewed hadn’t quite anticipated that they might receive unfavorable or ambiguous results, with pointers that may not be “medically actionable” or with information that’s maddeningly vague. Do you think there are ways of preparing psychologically for such uncertainty, and does the real risk of living with it challenge your conviction that parents should unearth all the genomic information they can, to try to prevent known risks?
BR: Deciding whether or not to proceed with sequencing your child’s genome is a very different decision depending on what’s prompting you to consider the test in the first place. Parents whose children are sick with undiagnosed diseases have strong motivation to try to figure out what’s ailing their child. They are not as freaked out by the potential for discovering unclear results because they hope they’ll find a clear result — one that explains their child’s symptoms. On the other hand, parents who have every reason to think their child is healthy may be more reluctant to dive deep into their kid’s 20,000-plus genes for fear of what they may learn, particularly if there’s nothing to do about it. And then there’s a vast swath of people who fall somewhere in the middle. With the conversation focusing now on sequencing newborns’ genomes, it’s important to keep talking about the truth that in many cases, DNA is not destiny.
CL: I was especially struck by the eloquent letter you reprinted from Maya and Andrew Hewitt to their providers at the Children’s Hospital of Philadelphia (CHOP): “We are beside ourselves with grief at the possibilities that you have now opened up for us and, in many ways, feel that you have unethically robbed us of our family’s peace of mind by performing tests beyond what we were anticipating.” Part of the issue here is the “right to an open future,” unfettered by a potentially devastating prognosis. At the same time, with infants unable to give consent to such sequencing and small children (even parents) unable to grasp its full or lived implications, how best should it be relayed and who should make the call about what results to return, especially for conditions they can’t do anything about?
BR: The key to defusing this powder keg is transparency. That is, parents shouldn’t be blindsided by information they weren’t seeking. Instead, they should be asked before their kids are tested what sort of results they’re interested in receiving. In the book, I highlight one such web-based program, My46 (named after the number of chromosomes that comprise a person). It’s a repository for genomic sequencing data, and parents — anyone who uses the site — can decide what sorts of results they want to know. The brilliant thing about this is that the data you don’t want to access right now — say, for example, mutations detected in a child that increase the risk of adult-onset cancer — will be there waiting for if you (or your child once she reaches adulthood) decide you do want to access that information. To me, this seems like the most reasonable and democratic way to share results of genetic testing.
CL: That issue of access to information and when to screen it comes up a lot at the end of your book, as when you ask: “What if it were possible to neatly sidestep many of these paternalistic questions of access — of who owns your data, what information labs and doctors are obliged to return, and what information they’re better off keeping under wraps — by flipping the paradigm? Instead of letting the decision-making power rest with the medical establishment, what if the patient’s rights were paramount?” Yet the earlier example of the Hewitts points to a complexity beyond “paternalism,” as when they told you: “We didn’t know what we were stepping into, and we are very educated people.” In short, are the issues simply “sidestepped” by putting them in the hands of parents? I’m also recalling the moment you quote Nancy Spinner, from the cytogenomics lab at CHOP: “I’m starting to think we need to back off … [and] should be more careful about overcalling things.”
BR: Genetics is incredibly complex for lots of reasons. For one, genetic data offers insight not just into one individual but frequently it sheds light on multiple generations, both past and future. The “DNA = destiny” assumption further muddies the waters. In some cases, a DNA change equals disease; in other cases it indicates increased risk of disease; and in still other situations it’s unclear what, if anything, it actually means. The situation becomes even more complicated if you consider that so many conditions don’t have treatments or cures. But if a doctor or a lab withholds that sort of genetic data from parents, that forecloses on their right to know. On one hand, you may be doing them a favor by sparing them from information about which they can do nothing. On the other hand, what if a drug is developed to treat their child’s condition but the parents don’t know that their child has the condition? That concerns me.
CL: Switching the focus a bit, to who owns the data and where they end up: Scientific American health reporter Charles Seife called 23andMe, a company you mostly cite favorably, the “front end for a massive information-gathering operation against an unwitting public,” with potentially “terrifying” consequences, given the scale and intimacy of the information shared. Comparable warnings have appeared in the Washington Post and New York Times, to a public that may be overly-enamored of the technological potential or altogether underestimating its financial and medical consequences. Part of Seife’s concern is that the information, once shared, is almost impossible to delete and, given genetic similarities among families, extends far beyond the individual. You end the book discussing safeguards against the misuse of data, but those seem likely to buckle the moment they collide with financial interests — I’m thinking of your own example of the medical insurers incentivizing genetic testing and data-sharing in return for lower premiums… Is there a risk you’re underestimating what could happen to such data by viewing it through the more benign and commendable lens of medical gains?
BR: That’s certainly a possibility. But I think that other approach is more fear-based. Like the Socratic epigraph I use, I’m in favor of knowing. That whole “knowledge is power” thing rings true for me, perhaps because I’m a journalist weaned on “what” and “how” and “why.” I don’t mean to be flip about it. There absolutely exists the potential that genetic data can be misused by medical insurers or employers. But I take the view that we are living an era of technology in which more and more people are going to want to take advantage of the genetic aspects of technology to peer inside their DNA. There is already a law on the books – the Genetic Information Non-Discrimination Act. It’s imperfect, for sure, but I like to think that it’s gotten the conversation started about protecting genetic data.
CL: You’re currently on a book tour for The Gene Machine, doubtless raising a host of issues many would prefer to leave to one side, especially outside a medical setting. How are you navigating such complex issues, and are you finding that discussion of them leaves your audiences reassured or prone to fear and anxiety?
BR: I’m finding that audiences are completely captivated by these discussions. At its heart, this book is about finding our shared humanity and about bioethics. When I speak to audiences, I try to really engage people in the complex science of genetics by presenting real-life scenarios, almost like case studies. I even give audiences ideas of ethical dilemmas they can hash over at their next cocktail party! That always draws a laugh, but in the Q & A sessions that follow my talks, I routinely get follow-up questions about some of the dilemmas I’ve raised and others I haven’t touched on. That says to me that people are neither reassured nor beset with worry but energized by thinking about all the ways that genetic tech is reshaping the human experience, specifically as it relates to pregnancy and parenting, but more broadly as well.
Bonnie Rochman, The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—and the Kids We Have (Scientific American/FSG, 2017).