Review: The Gene Machine: How Genetic Technologies Are Changing the Way We Have Kids—and the Kids We Have
Prize-winning journalist Bonnie Rochman has produced a polished account of how genetic information is being gathered and used in the assisted reproduction industry today. With a focus mainly on the U.S., The Gene Machine examines the expanding fields of genetic screening, testing, and diagnosis before, during, and after pregnancy, providing clear explanations of complex procedures and concepts. Driven by the stories of people who have used IVF in conjunction with prenatal and genetic testing, the narrative also includes the voices of IVF specialists and bioethicists.
Rochman covers multiple types of procedures for peering into embryonic and fetal genomes, including alpha-fetoprotein testing, amniocentesis, chorionic villus sampling, preimplantation genetic diagnosis, and comprehensive chromosome screening. She also explains a suite of other methods that yield insights into infants and children exhibiting developmental anomalies, including chromosomal microarray analysis, whole exome sequencing and whole genome sequencing. Each of these technologies is defined and described, usually through specific cases of couples who have used them, and their various predictive powers are laid out so that readers can see what they reveal and how accurately they do so.
Rochman’s subjects recount with tremendous candor the impacts the results of such tests had on their decision making about whether to proceed with an embryo transfer or continue a pregnancy or, in the case of tests performed on infants after birth, how to accommodate themselves to raising a child with an uncertain degree of risk of developing a genetically linked ailment as they get older.
A particularly compelling story is told by Maya and Andrew about their son Daniel (not their real names), born in 2012. fter the first ultrasound of her pregnancy, Maya was told that she would certainly miscarry, as no heartbeat could be detected. That forecast proved wrong, but a follow-on ultrasound discovered an anomaly in the umbilical cord that could lead to birth defects. After numerous other scans, Maya gave birth to an apparently healthy boy. However, the infant had impaired hearing, which resulted in multiple visits to specialists, one of whom in January 2013 recommended a chromosomal microarray test to see whether Daniel had any genetic anomalies that might account for his hearing loss. In the months it took to receive results, he seemed to be developing on schedule.
Then, an entirely unexpected outcome arrived: no explanation for Daniel’s hearing loss was found, but the test revealed a deletion in the TERT gene on the fifth chromosome. Children with mutations in TERT may suffer from a condition called dyskeratosis congenita, a progressive disease with some aspects similar to premature aging (progeria). However, deletions in TERT present a more uncertain case: Daniel might or might not develop that dyskeratosis congenita or other disease symptoms. In consenting to the microarray test, Maya and Andrew had not understood that they were seeking information on anything besides Daniel’s hearing loss.
Now the parents try to appreciate Daniel day-by-day, but Maya and Andrew find themselves fearing that some genetic ailment will emerge over time. Says Maya, “I appreciate science. We are not people who want to bury our heads in the sand. But there is a danger of knowing too much about something that they, the experts, don’t know enough about.”
Rochman’s stories about genetic selection are nuanced and rich. But perhaps inadvertently, her focus on decision-making by individual couples underscores a current argument that the old (bad) eugenics emanated from governments, whereas this time around, eugenics is consumer driven. While Rochman never directly states that this makes genetic discrimination more justifiable, her framing of the use of these technologies in terms of choice tends to convey that message. She does touch on equity implications, especially regarding access to these technologies, but the book would have been strengthened by consideration of larger justice implications, as well as a fuller perspective that situates couples’ “individual” choices within the larger structure of reproductive medicine and the sociological and economic currents that ineluctably carry patients toward more and greater interventions into the genetics of offspring. We know well by now that the science and clinical research that have brought us ARTs are deeply informed by the profit motive. The industry has created these products and now needs to create demand.
The legal and regulatory landscapes are well covered, and readers gain a good sense of the degree to which legislation, such as the Americans with Disabilities Act and the Genetic Information Non-discrimination Act, applies to the information gained from various genetic prognostications. The book also outlines the roles of professional bodies in shaping clinical practice, discussing the guidelines and recommendations provided by organizations including the American College of Medical Genetics, the American College of Obstetricians and Gynecologists, the American Society of Human Genetics, and the American Society of Reproductive Medicine, in shaping clinical practice.
In her final chapter, Rochman addresses CRISPR-Cas 9 and asks how the gene editing technology might be deployed to modify the genome and produce, say, the “amazing biomedical triumph…an AIDS-proof embryo.” Rochman compares CRISPR editing to mitochondrial DNA replacement (which was approved for use in the UK in 2015) and avers that ethicists are more worried about the former “because nuclear DNA plays a more central role in determining a person’s traits than mitochondrial DNA.” The experts she talks with downplay the likelihood that CRISPR will be used for so-called enhancement, and Rochman sides with them in the opinion that there could well be reasons to edit “genes to try to cure disease, which seems more urgent, more defensible, than modifying them to build a ‘better’ baby.”
One emerges from Rochman’s work with a (not unfamiliar) nagging feeling that medical developments, as they have since the outset of modern ARTs, are outpacing individuals’ and society’s capacity to comprehend the full implications of the procedures on offer. Time and again, Rochman quotes people who have been given incomplete or inconclusive or equivocal information, sometimes even without asking for it, and then been faced with having to make life-or-death decisions about the status of embryos, fetuses, or their children.
Clearly, physicians and genetics specialists have not devised this process intentionally to provoke emotional and ethical dilemmas, but they can be held accountable for not having devoted sufficient energy to building structures and parameters that would give would-be parents a fuller understanding of how to make sounder, less fraught decisions. This might include a comprehensive disclosure in advance of the entire tree of possible choices patients might be asked to make, an industry-consistent standard for how genetic risk is communicated, and more robust counseling around issues of ableism and disability rights.
Gina Maranto is Director of Ecosystem Science and Policy and coordinator of the Environmental Science and Policy program at the University of Miami's Leonard and Jayne Abess Center, a fellow at the Center for Genetics and Society, and author of Quest for Perfection: The Drive to Breed Better Human Beings (1996).
Previously on Biopolitical Times:
- Review of Taking Baby Steps: How Patients and Fertility Clinics Collaborate in Conception by Jody Lyneé Madeira
- Post-Graffiti Colossal Bizarro Babies: Softening us up for Engineered Infants?
- International calls to model problematic UK mitochondrial replacement legislation
[Image via Pixabay]