The First Baby Born After Polygenic Embryo Screening

ABSTRACT This article examines the bioethical discourse on polygenic embryo screening (PES) in reproductive medicine in blogs and news stories published during 2021 in response to the first baby’s birth using polygenic risk scores (PRS) derived from genome-wide association studies. We further contextualize the findings by synthesizing the emerging peer-reviewed bioethics literature on the issue, which has emphasized considerations regarding the child-parent future relationship, equity of access, and the absence of professional guidelines. Our media content analysis has established that expert opinion was prominently featured in news coverage, with bioethicists and other academics contributing 38 percent of articles and providing extensive commentary on ethical, social, and policy implications in the articles written by journalists. The overall perspective towards the use of PES was primarily negative (59 percent of the articles), without significant differences in negativity and positivity between experts and science reporters. This indicates a shift from the predominantly neutral attitudes towards the technology in media discourse prior to its deployment in clinical settings. There is heightened awareness that offering these tests to prospective parents is unethical and can create unrealistic expectations, with the two most prominent arguments being uncertainty about the prediction accuracy of polygenic risk scores in this context (72 percent of the articles) and the potential of PES to lead to a eugenic future of human reproduction that normalizes the discrimination of people based on their genetics (59 percent of the articles). INTRODUCTION The possibility of using genetic technologies to engineer the perfect baby has long haunted the public imagination. While some techno-utopians have openly advocated for human genetic enhancement, many critics have warned that advances in DNA technology come with myriads of ethical dilemmas and potentially dangerous social consequences. Literary and cinematic works have offered dystopian visions of our genetic futures—from Aldous Huxley’s powerful socio-political fantasy in his book Brave New World (1932) to cult classics of sci-fi cinema, such as Blade Runner (1982) and Gattaca (1997), there has been no shortage of ominous predictions that genetic engineering would lead to a new form of eugenics, which would ultimately create new social hierarchies grounded on genetic discrimination. Moreover, concerns about the use of genetic and genomic technologies for social control have been entangled with deep philosophical questions about personal autonomy, the right of the child to an open future, and the morality of changing, improving, or redesigning human nature.1 The perennial debate on human enhancement was recently reignited with a new controversy over the use of pre-implantation screening of embryos using polygenic risk scores.2 While the profiling of IVF embryos to detect hereditary, monogenetic diseases has been widely accepted, some companies are now pushing the envelope with unrealistic promises of tests that can predict genetic possibilities for desirable traits such as a child’s intelligence, athletic ability, and physical appearance. One event that prompted a public outcry in late 2021 was news about the birth of the first baby from an embryo selected through polygenic testing, a girl named Aurea.3 Although the embryo screening in Aurea’s case was used to decrease the likelihood for certain health conditions, many commentators believed that it signaled a real possibility of embryo selection for non-medical reasons becoming a commercial procedure in the foreseeable future, especially in the largely unregulated US fertility market.4 In the past, there have been discrepancies in how ethical and policy issues arising from advances in reproductive medicine have been viewed by experts (e.g., bioethicists, philosophers, legal scholars) and presented in the news. Like other advances in medical genetics, gene editing and screening technologies have been frequently characterized by exaggeration, sensationalism, and hype around clinical possibilities.5 Moreover, news media have often amplified the anticipated health benefits of genetic testing while overlooking uncertainty associated with its clinical validity and emerging ethical concerns, as shown in a recent study of the media portrayal of non-invasive prenatal testing (NIPT).6 The issue of polygenic embryo screening (PES) initially gained traction in the media in 2017 when the New Jersey biotech startup Genomic Prediction made headlines with claims that its testing technology could identify and avoid implanting embryos with very low IQs.7 The company also claimed that it had the capability to identify embryos with high IQs, although it committed not to offer that procedure for ethical reasons.8 The media coverage of polygenic risk scoring of human embryos between 2017 and 2019 was previously analyzed in a study published in BMC Medical Ethics in September 2021.9 This media content analysis has established that while most news articles were neutral towards the technology, one of the most significant critiques raised by science reporters was the absence of solid scientific evidence for the technology’s predictive accuracy and its practical value in IVF settings. It has also identified five major ethical concerns articulated by science reporters that have also been addressed in the academic discourse and within broader policy debates on reproductive technologies: a slippery slope towards designer babies, well-being of the child and parents, impact on society, deliberate choice, and societal readiness. In this article, we examine the discourse on PES in bioethics blogs, opinion articles, and news stories published in 2021, with a specific focus on reactions to the birth of the first polygenic risk score baby. We compare the perspectives of experts and science reporters to establish their attitudes towards PES, the main ethical themes in press coverage, and the key issues highlighted for a future policy debate. We also juxtapose our findings to the previous study of media coverage to establish if the case of baby Aurea has raised any new issues and pressing ethical concerns. I. Polygenic Embryo Screening in Reproductive Medicine While complex diseases and human traits result from a combination of genetic, lifestyle, and environmental factors, genomic medicine is quickly gaining momentum, and demands for genetic tests in clinical practice have significantly increased. Scans and analyses of genomes from various populations, a research area known as genome-wide association studies, have enabled scientists and researchers to identify genetic differences or variants associated with a particular trait or medical condition. These variants can be combined into a polygenic risk score that predicts an individual’s traits or increased risk for a certain disease. For instance, PES have been used to predict a range of diverse common conditions, from diabetes and cancer to attention deficit issues10 and, in some cases, well-being in general.11 This testing modality relies on the probabilistic susceptibility of individuals to certain diseases to offer personalized medical treatments and inform therapeutic interventions. Polygenic embryo screening uses polygenic risk scores to assess an embryo’s statistical risks of developing diseases (e.g., cardiovascular diseases) and potentially traits (e.g., intelligence, athletic ability, among others) and is performed in an IVF setting. It is currently marketed by several US companies such as MyOme, OrchidHealth, and Genomic Prediction to prospective parents as a method to screen pre-implantation embryos for health and non-health related conditions and is accessible to those who can afford to pay for it. As stated in a recent report on companies bringing PES into reproductive medicine, Genomic Prediction has already made their test for polygenic disorders, LifeView, available to couples. In contrast, Orchid Health has only recently invited couples to an early-access program for their testing technology, and MyOme is still in the process of launching its own test.12 In September 2021, Bloomberg first reported the birth of baby Aurea using screening conducted by Genomic Prediction. She was born after her parents used IVF and subsequently PES to select from 33 candidate pre-implantation embryos in 2020.13 Aurea’s embryo was deemed to have the best genetic odds of avoiding conditions such as breast cancer, diabetes, heart disease, and schizophrenia in adulthood. It is worth noting that Genomic Prediction made the announcement almost one year following Aurea’s birth, thus delaying the media’s reaction to this development and the ensuing bioethical and policy debates. II. Ethical, Social, and Policy Implications Some important ethical, social, and regulatory considerations regarding the development and clinical use of PES have been raised within the academic community. The bioethics literature on the issue, however, appears rather thin, which is not surprising given that prior to 2021, the possibility of using this screening method in clinical practice was largely hypothetical. Other genomic technologies that have enabled polygenic embryo selection, such as whole-genome sequencing and pre-implantation genetic diagnosis, have received more attention from bioethicists, legal scholars, and Ethical, Legal, and Social Implications (ELSI) researchers. Our analysis of the emerging literature has shown that some proponents of PES advocate its current use and go as far as to suggest a permissive regulatory environment for the purpose of outpacing the ethical concerns and potential restrictions once the technology becomes widely available. This approach suggests that embryo selection should be allowed for or against any trait associated with higher odds for better health and well-being in general, often withou

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