On Whole Genome Embryo Screening
by Alexandra Kilgore
2nd Place, Prose, Create | Encounter 2026
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A thesis submitted to Johns Hopkins University in conformity with the requirements for the degree of Master of Bioethics
Baltimore, Maryland
April 2026
ABSTRACT
Absent a choice, diseased, disabled, and other genetically suboptimal people could live by default, without justification. This thesis considers the implications of the imposition of just such a choice by the advent of novel whole genome embryo screening technology offered by companies such as Nucelus Genomics and Orchid Biosciences. I examine the scientific limitations of the polygenic risk scores behind whole genome embryo screening. Following philosopher David Velleman, I argue that the way whole genome embryo screening eliminates the status quo creates justificatory conditions for certain modes of embodiment. These justificatory conditions have problematic ethical dimensions. By selecting against, or even for, certain traits, whole genome embryo screening is a referendum on who belongs. Drawing Velleman into conversation with disability theorist Rosemarie Garland-Thomson, I conclude that the mere existence of such technology and the choices it enables are morally corrosive harms to a progressive society and the diverse people who populate it.
Primary Reader and Advisor: Travis Rieder, PhD
Secondary Reader: Juli Bollinger, MS
ACKNOWLEDGEMENTS
I would like to express my sincere gratitude to my advisor, Dr. Travis Reider, for his outstanding guidance and counsel in the completion of this thesis. I am also indebted to the valuable contributions made by Ms. Juli Bollinger, who generously offered her expertise in genetics as a resource to me.
I would like to thank the MBE cohort members in my thesis seminar course for their helpful contributions to the betterment of this thesis, especially Dr. Salome Odafen and Ms. Nicole Self.
Thank you to the faculty and administration of St. Casimir Catholic School for their flexibility and support as I pursued my MBE while teaching full time. Thank you to my 5th graders for providing many smiles throughout the process.
This thesis was completed through the intercession of Sts. Rita and Jude and Our Lady of Guadalupe.
Noor Siddiqui is the founder of Orchid Bioscience, Inc., which offers “the world’s most advanced whole genome screening for embryos during the process of in vitro fertilization (IVF)” (“Orchid Embryo Report: Identify Your Healthiest Embryo,” 2025). The company’s tagline is “Have healthy babies.” To this end, Orchid advertises screening embryos for a whole host of conditions, including cancers, birth defects, chromosomal abnormalities, mental illnesses, and even inflammatory bowel disease (“Orchid Embryo Report: Identify Your Healthiest Embryo,” 2025). Siddiqui took to X, formerly Twitter, in April of 2025 to discuss her motivations for founding Orchid. “When I was in elementary school, my mom started going blind. Retinitis pigmentosa. No family history. No treatments. No cure,” Siddiqui posted. “I got lucky. She didn’t. It led me to build @OrchidInc so my baby —and everyone else's—gets to win the genetic lottery—avoid blindness— and hundreds of severe genetic diseases” (“Post by Noor Siddiqui,” 2026a).
Orchid shares several striking commonalities with a service offered by the genetics testing and analysis company Nucleus Genomics, and Siddiqui with its founder, Kian Sadeghi. Nucleus Genomics’s NucleusIVF+ exhorts visitors to its website to “Have your best baby” (“Nucleus IVF+,” 2025). The home page features a looping display of the “2,000 factors that can shape the health and well-being of your future child” (“Nucleus IVF+,” 2025)—those associated with medical conditions (sickle cell disease, schizophrenia) and those associated with enhancement (male pattern baldness, height, IQ, eye color). Like Siddiqui, Sadeghi’s interest is personal. In 2005, when Sadeghi was five years old, his cousin died suddenly in her sleep at age 16, possibly of a rare congenital heart disorder (“Nucleus Genomics Wants to Make Personalized Health Care a Reality,” 2020). Sadeghi has stated his grieving parents ascribed her death to “bad genes” (“Nucleus Genomics Wants to Make Personalized Health Care a Reality,” 2020). Since its introduction in 2011, non-invasive prenatal testing (NIPT) has become commonplace in the United States (Fisher, 2023). The American College of Obstetricians and Gynecologists recommend that every pregnant person, regardless of age or other known risk factors, opt for NIPT as it is a safe, noninvasive tool to screen for chromosomal abnormalities and sex chromosome aneuploidies (Fisher, 2023). Much earlier in the process for prospective parents, genetic screening for health conditions in embryos is not novel either. Preimplantation genetic testing, or PGT, appeared on the assisted reproductive technology scene in the mid-1980s, pioneered by Dr. Alan Handyside and his collaborators (Parikh et al., 2018). In the United Kingdom, PGT is regulated by the Human Fertilisation & Embryology Authority, which allows it to be used for screening for various afflictions, mostly diseases and disorders caused by single-gene mutations such as cystic fibrosis and Tay-Sachs disease (Ball, 2021). Although the American Society for Reproductive Medicine creates guidance and standards in this area (“ASRM Ethics and Practice Committees Report,” 2025), there is no such regulatory body in the United States (Fischer, 2019; Bayefsky, 2016), and no federal law specifically deals with when, how, and by whom PGT may be used (Bayefsky, 2018). Unlike the widespread adoption of NIPT during pregnancy, PGT is by no means standard practice among individuals seeking IVF unless the couple has a genetic history of illness. It comes with significant cost and can be redundant for couples with no known hereditary medical problems or those who have many ‘high quality’ embryos already (“Is It Advisable to Do IVF with PGD Routinely Depending on the Woman’s Age?” 2023). Still, for some, the allure of PGT is obvious.
What companies like Orchid and Nucleus purport to offer, however, goes far beyond conventional preimplantation genetic testing’s aims. Single-gene mutations detected by PGT typically manifest deterministically as conditions like Huntington’s disease and Fragile X syndrome. Beyond single-gene mutations, the waters of detection are much murkier. The risks of polygenic diseases and disorders are challenging to predict from genetic testing alone. Not only do polygenic conditions like heart disease and cancer result from complex interactions and variants at the genetic level, environmental factors play a significant role as well (Ball, 2021). Even those diseases associated with a gene or genes, such as the BRCA 1 and 2 mutation and its corresponding risk for breast cancer, are not cut and dry: some carriers of these genes never develop breast cancer, and other non-carriers do, a phenomena known as variable penetrance (National Cancer Institute, 2024). Can Orchid really predict if an embryo will one day develop autism spectrum disorder, as it claims to? What about coronary artery disease or bipolar disorder? Can NucleusIVF+ tell, as advertised, if an embryo will eventually have an unhealthy Body Mass Index? Migraines? Arthritis? Diabetes?
Some scientists are skeptical. The testing results companies like Orchid and Nucleus deliver are based on polygenic risk scores. Polygenic risk scores are a calculation of an individual’s predisposition to complex diseases, such as coronary artery disease, and are not unfailingly predictive for anyone (National Human Genome Research Institute, 2020). Historically, though, Europeans and those of European descent are the most well-studied ethnic groups by genomic researchers. Polygenic risk scores are therefore calculated using a dataset largely comprised of genetic information from individuals of Northern European ancestry, which makes such a score even less useful to anyone of non-European ancestry, particularly those of African descent. As science advances, the accuracy of polygenic risk scores may improve. Still, a more accurate polygenic risk score does not guarantee a place for its use in clinical practice. Polygenic risk scores are just that: an assessment of potential risk, not certainty. Without genetic counseling (which Nucleus does not include, but offers in partnership with SteadyMD at a rate of $99 per hour (“FAQ | Nucleus,” 2025); Orchid offers “one-on-one genetic counseling at no additional charge” (“Orchid | Clinician Information,” 2025) it may be challenging for clients to discern how much stock to put in the polygenic risk scores of their embryos, and how to interpret the relative risks the polygenic risk score indicates. Writing in Scientific American, Arthur Caplan and James Tabery summarize, “the predictive power of polygenic risk scores remains so severely limited that you won’t find them part of standard clinical care anywhere in the world” (Caplan & Tabery, 2025). As of 2025, the American Society for Reproductive Medicine agrees that polygenic embryo screening is not ready for clinical application (“ASRM Ethics and Practice Committees Report,” 2025). Widespread incorporation of polygenic risk scores to inform clinical practice would require a greater degree of certainty about the science behind the scores themselves and their relevance to people of diverse ethnic backgrounds. It would also require a great deal of patient education to equip prospective parents with the tools to contextualize the score. The high cost of such education under the company’s current model raises serious ethical doubts about the possibility of informed consent for the couples and individuals who hope to use Nucleus but may not be able to bear the additional cost of contracted genetic counseling.
Why screen embryos for arthrogryposis, or for celiac disease, or for anything? The conclusion implicit in the practice is that screening will equip couples with the knowledge of which embryos to implant, and which not to. Avoidance of disease and disability is the obvious motivator for couples who take on staggering costs in pursuit of this knowledge (Assistant Secretary for Public Affairs [ASPA], 2024; Peterson et al., 2025)—the Nucleus Embryo software alone is $6,000 and Nucleus IVF+ starts at $29,999, with charges as high as $50,000 in analysis and consultation fees possible (“Nucleus IVF+,” 2025). Through Orchid, whole genome screening runs $2,500 per embryo (Douthat et al., 2025). These charges stack atop the cost of IVF itself. The U.S. Department of Health and Human Services estimated in 2024 that a single cycle of IVF might cost as much as $20,000 (Assistant Secretary for Public Affairs [ASPA], 2024), and the average American seeking IVF undergoes two to three cycles (Peterson et al., 2025). The client bases of these companies seek healthy babies quite literally at all costs. In an interview with Ross Douthat of the New York Times, Siddiqui explained, “What’s really exciting about this possibility is that now parents have this ability to protect their children from an entire category of disease that previously we had to just hope for the best and wish that our children wouldn’t be affected by them” (Douthat et al., 2025). This language around ‘protection,’ the idea that whole genome embryo sequencing is protective in nature, reappears throughout the interview. Currently, recommendations for the genetic testing of healthy children advise against testing unless early intervention for a certain suspected condition would improve outcomes later on (Hercher, 2020). Similarly, newborn screening panels focus on those illnesses whose detection has the greatest clinical utility (Ding & Han, 2022). Yet Siddiqui’s comments, Orchid’s growing consumer base, and the sheer cost associated with whole genome screening all indicate that the ability to protect, beyond what is typically available, is enormously valuable. The embryo is the mysterious category of embodiment that Nucleus and Orchid’s clients seek to protect, but only under the right conditions. A healthy embryo has a fighting chance to become a healthy child, so the two become synonymous. When a couple chooses to have their embryos screened, they are, in Siddiqui’s words, “protect [ing] their children” (Douthat et al., 2025). Only the healthy embryos, though, earn the mantle of ‘child.’ The rest, for the ethical, legal, and rhetorical reasons that underpin regulations around the treatment of embryos, do not. “What if your baby never walks? What if they are never able to live independently?” Siddiqui took to X to ask, in August of 2025. “What if you could have stopped it… but chose not to?” (“Post by Noor Siddiqui,” 2026b). An embryo with an adverse medical condition, as identified by whole genome screening, is a threat. The implications of its potential development menace the ideal of parent and child that so many who seek IVF sacrifice their time, money, and bodily resources to attain. Such an embryo cannot be who or what is protected by the services Orchid and Nucleus offer and, in any case, it is too late. Instead what is being protected is an imagined future in which the family finally gets their healthy baby, a baby who later matures into a strong child, a robust teen, and a vigorous adult. The diseased or disabled embryo is a stand-in for any number of haunting possibilities, among them miscarriage, infant loss, childhood death, untold pain and suffering, and a lifetime of dependence. This is what Nucleus and Orchid’s customers are trying to protect their family from. The only way to do so is to not implant the embryo—after all, as both Siddiqui and Sadeghi point out, there are no cures for so many of these ailments. Thus the embryo becomes both the aggressor and the victim, the longed-for child and the greatest possible danger to the longed-for child.
By selecting against, or even for, certain traits, whole genome embryo screening is a referendum on who belongs. It is the ability to pick and choose who will be part of the human family, and how they will be, in what sort of body and with what limitations. In the case of the prospective parent seeking IVF, this manifests attitudinally as viewing healthy, able-bodied, and wanted embryos as future children, while other embryos, the diseased and disabled among them, are still considered solely as the literal embryos they are. The kinds of decisions that result from whole genome embryo screening speak to a value judgment of the life a diseased or disabled embryo would live.
The advent of these technologies offered by Orchid and Nucleus are cause for concern in the disabled community, where disability rights advocates bristle at the idea of such a thorough way to eliminate a sizable subset of the population. In the United States, people with disabilities are the largest minority group in the country and, as of 2022, make up almost 30% of the population (“National Institutes of Health Advisory Committee to the Director Working Group on Diversity Subgroup on Individuals with Disabilities REPORT,” 2022). Whether parents are debating implanting an embryo with a high polygenic risk score for cystic fibrosis, or one who might be quite short, whole genome embryo screening re-opens the door to a conversation about which traits are undesirable to the point of exclusion.
The questions of belonging and selection that can be answered using these technologies are familiar from America’s lengthy courtship with eugenics. In the early 1900s, eugenics enthusiasts — influential public figures such as President Woodrow Wilson and the Rockefeller and Carnegie families among them — supported broad implementation of the tools available to them at the time, namely forced institutionalization and sterilization (Kalomiris, 2022). Eugenic arguments relied on the baseline belief that disability, in the form of “‘the feebleminded,’ ‘moral degenerates,’ and ‘mental defectives,’” was inherently bad, wrong, and harmful by default (Kalomiris, 2022). Eugenic practices disproportionately affected those who were already marginalized in some way, such as by poverty, race, or disability (Kalomiris, 2022). Today, the prohibitive cost and limited accessibility of the services Orchid and Nucleus guarantee that they will be most available to the most privileged, not to mention they are most scientifically sound only for people of European ancestry.
For all that the eugenicists of the past relied on Darwinian arguments of natural selection (Kalomiris, 2022), advancing a social ideology of eugenics for survivable conditions such as Down syndrome is entirely different from the reality that some fetuses, infants, and children will die from various diseases and disabilities. Crucially, eugenics is not about nature but about deliberate choice. Disability theorist Rosemarie Garland-Thomson muses on such choices in her piece “The Body She Had.” In it, Garland-Thomson reacts to the New York Times article “The Unlikely Women Fighting for Abortion Rights” which tells the stories of several women who obtained abortions described as TMFR, or termination for medical reasons. One mother, Martha Sheppard, learned the baby she was carrying had spina bifida and would need multiple surgeries, including a surgery while in utero. Sheppard ultimately chose abortion. The article quotes her as saying, “To keep a child with spina bifida is also a loving decision, but my husband and I decided that it was a loving decision not to bring her into the world with the body that she had” (Zernike, 2024).
Pregnant in 1946, Rosemarie Garland-Thomson’s mother had no way to know about Rosemarie’s disability, let alone make the choice that Sheppard did. In “The Body She Had,” Garland-Thomson argues this was for the best. She describes the experiences of herself and her friends, whom she characterizes as having “significant congenital disabilities” (Garland-Thomson, 2024); still, she writes, “Like most everyone else with a life of flourishing and joy, we have lives shaped by a balance of good fortune and grit” (Garland-Thomson, 2024). Garland-Thomson writes that she wishes that the Sheppards knew someone like herself, to factor in her own embodied experience as disabled woman living a successful, fulfilling life. As the article describes, termination for medical reasons is undertaken due to serious concerns about the long- or short-term health or well being of the fetus and, in some cases, the mother. The conclusion that some modes of embodiment ought not, for various reasons, to enter into the human family is the justificatory condition for an abortion in these cases. Like the child’s parents, Garland-Thomson grieves the life of “this girl with a body like ours who is not in the world” and everything she might have been. Unlike the child’s parents, Garland-Thomson’s reaction in “The Body She Had” indicates that she believes the availability of such a choice to be itself morally corrosive, whether or not it is exercised. Garland-Thomson writes, “The parents of that girl with a body like ours bear a terrible freedom. This freedom that modern liberal societies offer has often become a heavy mantle thrown over the shoulders of parents as they exercise their right – this onerous obligation – to choose who they bring into the world” (Garland-Thomson, 2024).
Ostensibly, the ever-expanding world of fertility technologies offers maximal autonomy for would-be parents, enabling them to make choices not only about family size or spacing but also about which modes of embodiment their children might take. Sheppard had choices that Garland-Thomson’s mother did not, but neither had the scope of information nor the resulting courses of action open to them that whole genome embryo screening purports to deliver; if they had, perhaps neither woman would have carried a disabled fetus. This sort of autonomy, one which maximizes the options open to an individual, is described by David Velleman as one that values “not the patient's capacity but his opportunities for self-determination - his having choices to make and the means with which to implement them” (Velleman, 1992).
If we take autonomy as a good to be promoted, and we take this to be the meaning of ‘autonomy,’ having an array of opportunities to exercise choice and to implement these choices is surely a positive thing. On this view, the emergence of whole genome embryo screening offered by companies such as Nucleus and Orchid should be applauded for adding to the growing number of choices available to would-be parents. But like Garland-Thomson, Velleman concludes that a multitude of options is not the fullest understanding of what is meant by ‘autonomy,’ and that the mere availability of some options, even if left unchosen, can actually be a harm. “Offering someone an alternative to the status quo makes two outcomes possible for him, but neither of them is the outcome that was possible before,” Velleman writes. “He can now choose the status quo or choose the alternative, but he can no longer have the status quo without choosing it” (Velleman, 1992). Without the presence of a choice to screen the genomes of embryos and the existence of the technology that enables it, some embryos both able-bodied and disabled would, as in the past, mature to infants who lived by default. As in the case of Garland-Thomson, a person might enjoy life with a congenital disease or a disability, and their parents might be happy to have such a child, but since we now live in a world where it is entirely possible to prevent such a person from existing through fertility technology, this state of affairs can only come about by being chosen rather than unchosen.
This imposition of choice is what troubles Garland-Thomson. In “The Body She Had,” she writes, “Decisions about what kinds of people to bring into our families and the world grow heavier as the array of reproductive medical technologies expands… all these freedoms, all these choices, and all this information is somehow in the interest of keeping people with bodies like mine … from joining our families and communities” (Garland-Thomson, 2024). The ‘heaviness’ Garland-Thomson refers to is the knowledge parents bear that their choices to use or to abstain from using technologies like whole genome embryo screening will, in some significant ways, shape their children’s experiences of the world. With the prevalence of this technology on the rise, might some of these choices entail obligations? Orchid’s advertisement extorts viewers to “have healthy babies,” not just by attending doctor’s appointments, eating well, taking supplements, and so forth, but by screening embryos for probabilities of diseases and disabilities. If your child is born defective in some way, and you did not exhaust all available options to prevent this outcome, could you be held responsible? Ought you to, as Julian Savulescu famously argues, use all the tools at your disposal to try to ensure the most optimal form of embodiment possible for your child? Could it be negligence if you do not? At the very least, you may be put in a position to justify your choices.
Before, merely having an ill or disabled child, or being an ill or disabled child did not, by any modern standard, have a moral character. If something, or nothing — God, nature, random chance — resulted in a person being infirm in some way, this couldn’t be changed. If it could be changed, the nature of this circumstance would be entirely different. Choosing such an existence casts moral doubts on the situation in ways that simply defaulting to such an existence does not. Velleman goes on to point out that “the offer of an option can also be undesirable because of what it expresses” (Velleman, 1992), precisely the concern that disability rights activists share.
The availability of a way to prevent the development of an embryo with any kind of medical abnormality, specifically whole genome embryo screening, implies that the development of this technology was necessary to prevent certain sorts of diseases and disabilities from being instantiated in persons.
On views that reduce autonomy to no more than license, an array of options can only be for our betterment. Yet it seems that the mere existence of some choices can be bad for us. Our most autonomous choices are those that enable us to choose the good and to contribute to our own flourishing. An overly narrow view of what form ‘flourishing’ might take comes from a failure of imagination about the beauty and meaningfulness of a life lived as an ill or disabled person. If the default reaction to disabled experiences is pity, if there is no narrative contesting the idea that disabled lives are not worth living, it will be easy to conclude that the morally appropriate course of action, and perhaps one that is even obligatory, is to use technologies like those Orchid and Nucleus offer to prevent ill and infirm persons from coming into existence. Parenthood is an inherently unpredictable experience. These companies capitalize on the existing negative narratives around experiences of disability and use the specter of diseased and disabled embryos to haunt would-be parents with a tantalizing offer of control: use our technology to choose an embryo that will be the best baby. Implied is the notion that what is being sold is not just a healthy baby, but some measure of predictability and direction along the journey of parenthood. While customers may wind up with an infant in perfect health, the predictability and direction, the control of how a life might turn out, will always remain elusive.
Healthy familial relationships, those to our betterment, are not about who is maximally autonomous or who has most command of the situation. So it is with our human family. Life without an array of embodied experiences is a kind of poverty. Garland-Thomson quotes Hannah Arendt’s 1963 report on the trial of Adolf Eichmann: “‘Political regimes ought not to determine who should and who should not inhabit the world” (Garland-Thomson, 2024). With the advent of the services Orchid and Nucleus advertise, we might tack on that neither should corporations. In a progressive, diverse society, the differences that distinguish us from one another, along with their attendant sorrows and joys, ought to be welcomed and celebrated.
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