Posted on December 28, 2016 at 12:22 PM
by Stephanie A. Kraft, JD
The modern experience of pregnancy is distinctly “not your mother’s pregnancy”. Ever-expanding options for carrier, prenatal, and newborn screening offer today’s pregnant women countless choices when it comes to genetic testing—choices that were unheard of, even unfathomable, just a generation ago.
Prenatal screening and diagnosis have long challenged the tension between individual reproductive autonomy and society-wide respect for persons with disabilities. New genetic and genomic technologies have the potential to either heighten or relieve this tension, depending (in part) on how they are implemented. Shakespeare argues that the advent of prenatal whole genome sequencing can remind us that “everyone is potentially disabled” due to one genetic mutation or another, but at the same time he cautions that the widespread use of this technology may lead parents to focus on individual genetic imperfections rather than accepting their children as the “flawed, vulnerable, limited and mortal” people that they are. “No baby is perfect,” he writes as a reminder to the modern pregnant woman who might be considering how to navigate her prenatal genomic options.
As a modern pregnant woman myself, I read Chen and Wasserman’s target article with both academic and personal interest. Chen and Wasserman propose an unrestricted framework, bolstered by a robust informed consent process, for the eventual clinical implementation of noninvasive prenatal whole genome sequencing (NIPW). They argue that by not limiting testing by severity of conditions, their approach will neither devalue the lives of individuals with disabilities nor encroach on reproductive autonomy. Some commentators applaud their framework’s potential to minimize biases against people who have subjectively “bad” genetic conditions. Others, however, challenge the proposal for its unrealistic view of the clinical, regulatory, and sociological context in which it is intended to operate.
In reading Chen and Wasserman’s article, I found myself wondering how their proposal would have played out in my own pregnancy. While they raise an important conversation for those thinking about the future of prenatal—as well as carrier and newborn—screening, I couldn’t help but feel that the conversation was missing the voice of a key stakeholder group: pregnant women. I thought about the questions I asked my doctor, the conversations I had with other women in my prenatal yoga class, the message boards I read on my trusty pregnancy app. None of the women I interacted with seemed to be concerned with having a genetically “perfect” child, but rather with setting up their child, imperfections and all, to have the best life they could offer. Most had other things on their minds besides their fetus’s genome: choosing a name, avoiding the Zika virus, dealing with aches and pains (and nausea and heartburn and swelling), finding high-quality child care. Among the countless things pregnant women already worry about—or are told we should be worrying about—NIPW, it seemed, would not rise very high on the list for most of us.
While only anecdotal, this apparent lack of interest in genome sequencing made me wonder, as Munthe does, whether NIPW is truly a priority for even the most modern pregnant woman. Several commentators similarly note a lack of demand for NIPW. It may be true, as Chen and Wasserman suggest, that prospective parents would be inclined to get NIPW if it were available (and covered by insurance), but Kaposy contends that the demand for much prenatal genetic testing comes not from pregnant women and their partners, but rather from corporate promotion of the technology. Yet Chen and Wasserman’s proposal includes no efforts to counterbalance the impact of corporate messaging or other external pressures. Instead, they premise their proposal on the goal of “enhancing the autonomy of prospective parents” by means of a rigorous, multistage informed consent process.
Genetic counseling and robust informed consent processes, including the use of decision aids, can certainly be valuable support tools for autonomous decision making. However, it does not follow that simply offering patients testing for an unrestricted list of conditions and giving them access to huge quantities of information will enhance reproductive autonomy. Instead, Chen and Wasserman’s focus on individual decision making shifts the full burden of this weighty choice onto patients’ shoulders, with minimal professional guidance to relieve that burden. If their proposal is to support patient autonomy in practice rather than just in theory, it must take into consideration patients’ perspectives on and preferences for making these decisions. For example, it may prove to be more supportive of reproductive autonomy if professional medical organizations develop guidelines for a standard panel, perhaps mirroring Chen and Wasserman’s “default” option, while still encouraging patients to make their own choices and allowing the opportunity to obtain additional testing as they see fit. Such an approach would recognize that decision-making support can be an important part of an autonomous choice for many patients.
As pregnant women are faced with increasingly numerous and complex choices, choices our mothers and even our older sisters and cousins didn’t face, it is important to think critically about what kind of tools can help patients navigate this era of modern pregnancy and its sometimes overwhelming options. In starting this conversation, Chen and Wasserman are right to argue that these tools, whether decision aids, professional guidelines, or something else, should not be designed to help prospective parents in the futile pursuit to have a “perfect” baby. Instead, they should simply offer a little extra support for people who are just trying to figure out how to be better parents to their perfectly imperfect babies.
This post can also be found in the January 2017 issue of The American Journal of Bioethics where you will find several others articles on this topic.