by | February 23, 2026 · 4:19 PM

Guest Post: They Canceled Our Anti-Eugenics Talk. The Censorship Proved Our Point.

by Ambreen Khan, Kim Zayhowski, Robert Resta, and Laura Hercher

This piece is our team’s account of censorship and threats from members of the genetic counseling community. It is both testimony and a demand that our profession do better. We were twice scheduled to present a webinar on the threat of modern eugenics – only for both events to be canceled after anonymous complaints and undisclosed claims about threats and safety. When organizations shield reputation over transparency, they marginalize dissent and chill scholarship that is essential to our clinical and ethical responsibilities. Institutional silence is not neutrality. 

What actually happened?

Our webinar’s purpose was simple and urgent: to connect the historical roots of eugenics to the present. Genetic counseling partly emerged as a response to twentieth‑century eugenic abuses rooted in Francis Galton’s nineteenth‑century theories. We aimed to show that these ideologies are not relics but active influences – visible in the United States president’s eugenics-coded rhetoric, in technocratic visions of positive eugenics, and in colonialism and imperialism across the globe. We planned to demonstrate how sloppy science, genetic determinism, dehumanization, and essentialist language flatten human complexity and create openings for misuse; to interrogate whether elements of contemporary genetic counseling echo eugenic logic; and to engage participants in concrete strategies for explicitly anti‑eugenic practice.

Timeline of cancellation #1:

  • January 31, 2025: The proposal was submitted for the National Society of Genetic Counselors (NSGC) Annual Conference for a presentation on modern eugenics.
  • March 28, 2025: NSGC asked that the proposal be recast as a “Community Conversation” – a recorded webinar with a facilitated live discussion intended to extend reach. 
  • June 4, 2025: We returned the revised proposal to NSGC. The final speaker team was Robert Resta, Laura Hercher, Ambreen Khan, and Kim Zayhowski. The live discussion was scheduled for September 29, 2025. 
  • Summer 2025: We had many meetings as a presenter team about the content of each of our presentations. We assembled volunteer moderators, developed the session as a dialogic educational space, and stayed in regular contact with NSGC liaisons, sharing the slide deck and session plan for review. 
  • September 4, 2025: The final recordings were submitted to NSGC, which were then posted for NSGC membership. We were informed several hundred people signed up for the event.
  • September 16, 2025: NSGC removed Ambreen Khan’s segment (“Reconsidering Eugenics through a Global Lens”) from the posted materials pending “fact‑checking” after complaints about alleged inaccuracies. 
  • September 22, 2025: Following NSGC’s “fact-check,” the segment was restored with an appended reference list, and an overall disclaimer NSGC required stating that views expressed were the presenters’ own.
  • September 25, 2025: Four days before the scheduled live conversation, NSGC canceled the webinar and removed the recording. NSGC emailed the presenters and attendees, and referenced threats of violence to leadership and the organization as the cause of the cancellation. They provided presenters with no details, documentation, or evidence of those threats. Both emails said that the topic of eugenics would be addressed at a later date. NSGC paid presenters their honoraria.
  • October 6, 2025: One presenter followed up via email to request specific information regarding the nature of the threats, whether their source had been identified, what content provoked them, and if law enforcement had been involved. The presenter emphasized that, as a speaker for the upcoming annual conference, understanding any security risks related to the presentation’s content was essential for safely preparing future talks.
  • October 8, 2025: NSGC acknowledged that the questions were “very reasonable” and stated that the source of the threat had been identified and “addressed” with legal counsel, leaving “no ongoing concern.” They offered no specifics on the threats’ content, their origin, how they were handled, or what material had provoked them. Without these details, the presenter team could not evaluate their own safety for future engagements. To date, the talk has not been rescheduled and no explanation has been provided for why restoring the recording is not possible if the threat has been fully resolved.

Timeline of cancellation #2:

  • December 16, 2025: A genetic counseling graduate program’s Diversity, Equity, Inclusion, and Justice Committee reached out to the presenter team and invited a similar presentation on modern eugenics for a webinar open to genetic counselors and students. The event was organized by students and approved by program leadership for February 9, 2026.
  • January 28, 2026: The program emailed the presenter team and canceled the webinar, citing concerns about “belonging for all” and “potential lack of balanced perspectives” that they claimed would violate the university’s nondiscrimination policy, along with anticipated safety concerns. The email stated that the messages sent to the University expressing concerns had assumed the event’s material was the same as the Community Conversation referenced above. The program confirmed the content had not been fully reviewed before making the determination to cancel. One presenter noted that the cited university policy explicitly protects academic free speech even when it may provoke opposition or external pressure directed at the faculty or the institution. Promotional social posts (which had attracted 100+ likes and supportive comments) were deleted without announcing the cancellation.

Targeting and double standards 

During NSGC’s “fact-checking” process, one speaker, Ambreen, was singled out for the portion of her presentation which analyzed genocides in the United States, Germany, Rwanda, and Gaza through the lens of medical ethics and eugenics. Complaints about her presentation were framed as questions of academic veracity. NSGC restored her content after review with appended references. In our view, this outcome indicates that the complaints were motivated less by demonstrable concerns about factual integrity and more by ideological opposition to her inclusion of Gaza and her critique of Israeli policies. 

Ambreen and the Council on American–Islamic Relations (CAIR) sent NSGC a formal letter on November 10, 2025, urging procedural reforms. CAIR offered to help NSGC “review internal procedures for handling complaints to ensure that concerns about content do not serve as a pretext for suppressing marginalized voices or politically sensitive topics.” To date, more than three months later, neither Ambreen nor CAIR has received any acknowledgement or follow-up.

The CAIR letter underscored the harm of institutional repression, stating:

“One of the so-called citation concerns involved Ms. Khan failing to include a reference to Israel’s offer to treat Gazans in Israeli hospitals. It appears that Ms. Khan’s detractors simply disagree with her assertion that what Israel has done in Gaza is tantamount to genocide, which is a position they are able to hold and argue, but it should not result in the systematic silencing, censorship, and reputational harm to Ms. Khan. To be clear, Ms. Khan’s citations appear to be adequate; the disagreement appears to rest not on the veracity of her sources but on interpretation and analysis, which is within the scholarly discretion of any presenter. Singling out her presentation for heightened scrutiny and censorship has created a hostile and chilling environment for scientific and ethical dialogue. … Unfortunately, this is not the first time NSGC has censored members regarding the genocide in Gaza. We view this as an opportunity to engage in reasonable and appropriate restorative steps.”

What is at stake?

Censorship is not new to genetic counseling: our profession has navigated pressure over which histories, patient stories, and ethical critiques are acceptable to teach and debate. In recent years that pressure has intensified, playing out both publicly – high‑profile cancellations, wide-spread written petitions, and calls for professional sanctions – and privately, as quieter demands to remove material from syllabi, discourage certain research topics, or advise speakers to avoid specific language. 

When educators and researchers preemptively “tone down” lectures, avoid case studies, or divert research away from challenging topics out of fear, they inflict a lasting corrosion of knowledge. Self‑censorship is the stealth weapon: curricula thin, research agendas narrow, and trainees learn that caution equals professionalism. Unlike an explicit ban, self‑censorship is invisible – until whole domains of knowledge vanish from professional discourse. That quiet retreat institutionalizes ignorance.

When a government or institution decides which ideas are acceptable, it ceases to be a sanctuary for inquiry and becomes a tool for social control. Across the world we see a coordinated strategy to suppress scholarship: in Hungary, the government outlawed gender studies to replace independent scholarship with state-sanctioned curricula; in India, the state uses police, laws, and bureaucracy to silence critics; in the United States, topics like Palestinian rights and Critical Race Theory are suppressed through legislation and institutional pressure. 

This is not about ideological grandstanding; it is about clinical competence. Clinicians who cannot name the political and historical dimensions of eugenics are ill-equipped to safeguard patients from coercive programs or discriminatory allocation of care. Patients most at risk – disabled people, people seeking reproductive care, BIPOC communities, immigrants – pay the price. If our institutions silence education on the role of eugenic impulses in shaping border policy, how can genetic counselors recognize its modern iterations targeting immigrant patients? And if we cannot name Gaza or Sudan as sites where medical ethics are violated, what framework do we have to recognize – much less resist – the same violations anywhere else?

Teaching should be emancipatory, not neutral. Thinkers from Paulo Freire to bell hooks and Henry Giroux frame teaching as naming injustice and treating the classroom as a site of ethical resistance. The Palestinian ideal of Sumud (صمود) – a steadfast, rooted perseverance against erasure – extends this vision: learning itself becomes a daily act of standing against oppression. 

Yet educational institutions too often prioritize procedural risk management over ethical clarity. When institutions invoke “safety” without sharing assessments or supporting speakers, the loudest and most aggressive opponents effectively decide what may be taught.

Eugenics thrives not only on coercive policy but on silence – on what is not taught, not researched, and not challenged. When institutions bow to intimidation and erase critical inquiry, they remove guardrails that might otherwise prevent discriminatory policies and coercive practices.

A call to action

We as a genetic counseling community must decide whether genetic counseling will be a profession that names power, confronts history, and defends the scholarship our patients depend on, or one that retreats into procedural silence when challenged. That choice belongs to all of us. The genetic counseling community does not have to, and should not, agree about everything but we should be able to respectfully, thoughtfully, and safely engage in debate and discussion.

Our team asks academic programs and professional societies to adopt the following policies to protect both safety and academic integrity:

  1. Publish transparent moderation policies and threat-protocols
  • Make public criteria for removing or modifying recorded or live content, including what level of threat justifies cancellation and what evidence is required.
  • When “safety” is cited, share a summary of the threat assessment with presenters and with the membership (while protecting any legitimately confidential investigative details).
  1. Include presenters in safety planning
  • Share threat assessments and possible mitigation strategies with speakers.
  • Collaborate on concrete steps (e.g., moderated Q&A, delayed posting, platform security, legal support) before deciding to cancel.
  1. Provide visible, material support to targeted scholars
  • Offer logistical, legal, and public backing (e.g., an institutional statement affirming vetted content, assistance with security measures, and a designated liaison for harassment complaints).
  • Establish clear anti-retaliation policies for educators, students, and members who report censorship or advocate for reinstating removed content.
  1. Create an independent appeals and review mechanism
  • Establish a review process for decisions to remove content or cancel events, with a timetable for review and public reporting of outcomes.
  1. Commit to essential curricula
  • Ensure core training includes the political and historical forces shaping medical care in general and genetic counseling specifically, and defend those curricular commitments from suppression.
  1. Remedy past harms
  • Publicly acknowledge cancellations that lacked transparency, reinstate or re-record content where appropriate, and issue formal apologies and restorative steps for presenters who suffered reputational harm.

Credible threats of violence are serious matters that deserve careful attention and response. Our demand is procedural: when safety is invoked, institutions must show evidence of due process, involve presenters in mitigation, and exhaust alternatives to cancellation before erasing vetted educational content.

In an era when threats are weaponized to control knowledge, yielding to intimidation forfeits our capacity to confront hard truths about power, policy, and medicine. Our duty is twofold: protect people from immediate danger and protect the integrity of knowledge itself. Silence may be easier, but it is a dangerous abdication. We are all responsible for the profession we build. Defend evidence. Defend teaching. Defend the people – patients, students, clinicians, and scholars – who depend on both.


Author note: This account is based on our direct involvement as presenters and on preserved documentation and correspondence with the institutions referenced. It reflects factual information available to us through our participation and our professional judgment. We remain available to address and correct any substantiated factual inaccuracies. The opinions and interpretations herein are exclusively our own and do not necessarily reflect the positions of our employers or affiliated institutions.

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by | February 9, 2026 · 4:11 PM

Guest Post: Countertransference as Prior Probabilities

by Jon Weil

Jon Weil was Director of the Program in Genetic Counseling, University of California Berkeley, from 1989 to 2001 and is the author of Psychosocial Genetic Counseling, Oxford University Press, 2000.  He retired in 2001 but has remained professionally active.  His current interests include the continuing development of psychosocial genetic counseling and promoting locally focused, patient-oriented international genetic counseling.   

Countertransference, defined broadly with respect to genetic counseling, “refers to conscious and unconscious emotions, fantasies, behaviors, perceptions and psychological defenses that the genetic counselor experiences as a response to any aspect of the genetic counseling situation” (Weil, 2010).  Countertransference is important because genetic counselors confront the hopes, fears, anxieties and behaviors of patients in many forms, both major and minor.  It can be a source of understanding, empathy and improved clinical practice.  It can also be a source of personal pain and discomfort, including anxiety about one’s clinical efficacy.  The topic of countertransference is addressed in many publications, from several perspectives (e.g., Biesecker et al., 2019; McCarthy Veach & Redlinger-Gross, 2025).  Nevertheless, a new perspective is potentially useful, as the following vignette demonstrates: 

As I ended a presentation on Countertransference in 2011, a student approached me with a question – “Could you think of countertransference as prior probabilities?”  My response was immediate – “That is one of the most interesting questions I have ever been asked”.  With time, my understanding of the value and perceptiveness of his question has grown.

Bayesian analysis, to which the question referred, was critically important in clinical genetics and genetic counseling before DNA sequencing was developed (Hodge, 1998).  Bayesian analysis uses “prior probabilities”, information that is subsidiary or “antecedent” to that presented in the counseling session, to adjust the calculated probabilities of the proband and/or other family members having a given genotype.  For example, as shown in the following, the 50% probability that a woman whose brother has an X-linked disorder is heterozygous for the genetic variant (Pedigrees 1A and 1B; Table 1) is reduced to 20% by the additional, antecedent information that she has two unaffected male children (Pedigrees 2A and 2B; Table 2).

Table 1

Hypothesis1A carrier1B non-carrier
Probability½ = 50%½ = 50%

Table 2

Hypothesis2A carrier2B non-carrier
Prior Probability½ = 0.5½ = 0.5
Conditional Probability¼ = 0.251 = 1.0
Joint Probability1/8 = 0.125½ = 0.5
Posterior Probability.125/(.125 + .5) = 20%.5/(.125 + .5) = 80%

A patient’s circumstances may also involve other forms of antecedent information.  For example, for late onset disorders such as Huntington disease, the longer a family member lives without the onset of symptoms, the lower the probability that he or she carries the dominant genetic variant. 

The parallels between prior probabilities and countertransference are intriguing.  In psychological theory, countertransference involves experiences prior to the genetic counseling encounter that influence the genetic counselor’s cognitive and emotional assessment of the likelihood of potential interactions with the counselee (Weil, 2010).  For example, a genetic counselor’s childhood experience with an angry parent increases awareness of a counselee’s growing anger during the course of a genetic counseling session.  This in turn enables empathetic responses that reduce the likelihood of an angry outburst and promote a conversation that addresses the underlying issues.

However, it is when we look beyond these straightforward similarities that the broader heuristic value of the comparison becomes apparent.  I believe there has been significant progress in promoting the value of countertransference in genetic counseling (Biesecker et al., 2019; McCarthy Veach & Redlinger-Gross, 2025).  However, I assume that it still bears, to greater or lesser extent and in various settings, the onus of being a burdensome topic that, if not understood adequately, can lead to serious clinical errors and feelings of guilt and shame.  Thinking of countertransference as antecedent information that adjusts the genetic counselor’s assessment of the probability of a patient’s possible thoughts or behaviors, thus improving the effectiveness of her or his interventions, provides another route to overcoming this onus.

Addressing countertransference can be difficult and distressing, bringing to consciousness painful experiences and emotions.  These are best addressed with the assistance of an experienced supervisor or colleague or a licensed counselor or therapist.  However, the analogy with prior probabilities allows some problematic aspects of countertransference to be reframed as issues of accuracy, reliability and representativeness:

There are a number of ways in which Bayesian analysis may produce erroneous results:  

First, the data on which it is based may be incorrect and require subsequent revision (e.g., the diagnosis assigned to a forebear is incorrect, family understanding of the diagnosis is incorrect, and/or medical records are unavailable because they have been lost, are inaccessible in another country, etc.).  Similarly, countertransference based on initial impressions or a specific attribute of the patient may prove incorrect or unreliable and require revision.

Second, the data may be used inappropriately.  For example, for late onset disorders, age of onset data may be limited or not representative of the at-risk individual’s ethnicity.  In the original formulation of transference and thus countertransference, it involved childhood behaviors and perceptions that offered the best solution to a difficult situation given the child’s position of powerlessness, but were less than optimal and could be significantly dysfunctional given that the adult’s situation is very different (Weil, 2010).  Thus, we may compare countertransference grounded in perceptions and behaviors that are no longer relevant with Bayesian calculations based on data that are not representative of the situation to which they are applied.

Third, with complex pedigrees and/or multiple types of data (e.g., affected relatives and unaffected relatives with age of onset considerations), the calculation may be complex and one or more errors may have been made.  Similarly, the complexity of a patient’s or family’s circumstances may induce countertransference that is not about the patient or family, but about the genetic counselor’s feelings of incompetence or of being overwhelmed, leading to responses that are not attuned to the circumstances.

The role of Bayesian analysis has receded and the understanding of countertransference has advanced since I was asked, a decade and a half ago, “Could you think of countertransference as prior probabilities?”  However, thinking about countertransference in terms of accuracy, reliability and representativeness – as prior probabilities – may help reduce the anxiety and concern about making clinical errors that discussions about it, including in supervision, can evoke.  It may help reduce the stigma that still attaches to countertransference, providing additional support for accepting it as a natural, inevitable process that is a potential source of valuable insight concerning the patient and the genetic counselor.

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ACKNOWEDGEMENT.  I thank Sahil Kejriwal for asking this very useful question.

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REFERENCES
Biesecker, B. B., Peters, K. F. and Resta, R. (2019), Advanced Genetic Counseling: Theory and Practice, New York: Oxford University Press.


Hodge, S. E. (1998). A simple, unified approach to Bayesian risk calculations. Journal of Genetic Counseling, 7, 235-261


McCarthy Veach, P. and Redlinger-Gross, K. (2025)  Genetic Counselors’ Personal Reactions and the Ethical Implications for Genetic Counseling Practice. In R. E. Grubs, E. G. Farrow and M. J. Deem (Eds.), The Oxford Handbook of Genetic Counseling. New York: Oxford University Press, pp. 516-530


Weil, J. (2010)  Countertransference: Making the Unconscious Conscious. In B. S. LeRoy, P. McCarthy Veach and D. M. Bartels (Eds.), Genetic Counseling Practice: Advanced Concepts and Skills.  Hoboken: Wiley-Blackwell, pp. 175-197

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by | January 29, 2026 · 2:58 PM

Justifying Preimplantation Polygenic Embryo Screening: The Autonomy Chickens Come Home To Roost

Autonomy has been a core guiding ethical principle of genetic counselors pretty much since the profession’s founding in the early 1970s. There are various definitions of autonomy but on a work-a-day basis in genetic counseling, it is usually conceptualized as the right of patients to make decisions about genetic testing that are educated and without undue external influence or pressure. It relies heavily on information-based consent. It is often, though not exclusively, evoked in the context of reproductive decision making, such as choosing whether to have children, whether to undergo prenatal testing and which test to have, and whether to continue a pregnancy if a fetal condition is diagnosed.

Reproductive autonomy in the context of genetic counseling was seen as an antithetical counterpoint to the Anglo-American-Germanic eugenic ideology of the first half of the 20th century and consistent with the wider trend in medical care to be patient-centered. But in a table-turning move, reproductive autonomy is now being used as an ethical justification for offering what many have called a modern version of eugenics – preimplantation polygenic screening of embryos for traits such as IQ, height, and eye color. I am not going to name the companies offering the testing because they don’t deserve or need the advertising. But the basic argument they make is that parents have an autonomous right to have children with the kind of traits that parents desire. Some people choose reproductive partners on this basis, so how is that any different than using a polygenic score?

The space between a trait and a mild medical condition, and between a mild versus a serious medical condition, is full of shades of gray but some of the traits that polygenic embryo testing screens for are clearly not medically signfiicant. Autonomy, as currently conceptualized, is unclear about which tests for which traits or medical conditions should be available to prospective parents or what ethical principles should guide parental choices.

Let me make my biases clear. I have a lot of criticism of preimplantation polygenic embryo screening. I don’t think that patients, children, or society benefit from the ability to select for these traits. The predictive value of polygenic screening for the traits is limited and questionable. And even if testing were reliable, is it worth tens of thousands of dollars to have a blue-eyed kid who is an inch taller and has an IQ 7 points “higher”? It almost sounds like a scam because parents will never know if their bundle of eugenic joy truly is taller or “smarter” than if they had just rolled the gametic dice.

I am also not convinced it will ever catch on to any large degree. Sure the ultra-wealthy can well afford it but IVF is a physical and emotional bear to go through (Note to those who push IVF on their partners) and a live birth often requires multiple cycles of embryo transfers. To say nothing of the higher incidence of pregnancy and neonatal complications associated with IVF, which is not entirely explained by parental characteristics. I also don’t like how preimplantation polygenic embryo screening has been subtly legitimized by giving it a set of initials: PGT-E (for preimplantation polygenic testing of embryos, just like PGT-A (for preimplantation aneuploidy screening), PGT-M (for monogenic conditions). Identifying something by its initials suggests that it is a common and widely accepted practice, which preimplantation polygenic embryos screening definitely is not.

Really, the threat to society is not preimplantation polygenic testing. The more serious threat is that a bunch of garden variety jerks with unimaginable wealth and power will raise a new generation of even wealthier and more powerful jerks who think they are privileged and God’s gifts to humanity. Someone should develop a polygenic score for being a jerk.

But back to the autonomy issue. Until now, challenges to autonomy stemming from which conditions should be available for prenatal testing have been raised before. Is it ethically acceptable for deaf couples to select for having a deaf child? What about a couple with achondroplasia choosing to terminate a pregnancy in which the fetus was of normal stature? These scenarios, not particularly common in clinical practice, were often evaluated from an ableist bias. Back in the 1980s, when amniocentesis and CVS were the only means of reliably determining fetal chromosomal sex, there was a general taboo against prenatal testing strictly for this purpose. This was a partially racialized ethic; not uncommonly, in the US the taboo was invoked in the context of Chinese or Indian parents but not typically for non-Asian parents who were nominally undergoing prenatal testing for “parental anxiety.” Now that fetal chromosomal or anatomical sex can be determined early and reliably in pregnancy, the ethical discussions seem to have been pushed aside because, well, I guess that information is now considered “fun” or “practical.”

Preimplantation embryo polygenic screening to select for non-medical traits is, to some extent, a natural extension of the way that people have been choosing gamete donors for decades. Gamete donor profiles include a bewildering array of (usually unverified) donors’ non-medical traits such as demographics, educational attainment, reading preferences, and employment. This may in part be driven by patients’ emotional desire to choose a donor who might have the characteristics of person that the patient would have chosen to have a baby with if gamete donation was not necessary. But there is also an element of hoping that these traits might have a genetic basis and thus the child might share some of these same traits.

Source: https://cascadecryobank.com/information-sperm-donor-profiles/

In the context of preimplantation polygenic embryo screening, the argument is made that patients are informed about the limitations of the predictive ability of polygenic testing and they are making knowledgable choices free of external direct pressure. For the moment putting aside the argument that commercial for-profit companies may not provide unbiased information and that there could be a certain amount of sales pressure, this is pretty much the same ethical justification used for any prenatal test. One ethical justification to rule them all. Although many of us may have the gut reaction that polygenic embryo screening is just plain wrong, there is little in this practice that violates the common conceptualization of autonomy.

In a challenge to the traditional conceptualization of autonomy, Ainsely Newson, Isabella Holmes, and their colleagues from the Universities of Sydney, Melbourne, and New South Wales recently offered up a different take on reproductive autonomy, a model that addresses some of the issues I raised above.* They delineate a conception of autonomy characterized by four attributes – qualtitiatve, relational, institutional conditions, and weakly substantive. These are outlined below, along with some thoughts on my part of how they might apply to preimplantation polygenic embryo screening.

  1. Qualitative – the number of options offered to patients is less important than the quality of those options. Those options should be presented in ways that are consistent with patient values and such that patients are aware of the limitations of genomic testing in predicting what it means for their offspring. It requires good counseling skills to explore with patients what the traits in question mean for their lives and to what extent preimplantation polygenic screening of embryos reliably results in the promised outcomes. It also suggests that genetic counseling should not be performed by entities who have a financial stake in patients’ decisions. No criticism of the hard working, highly ethical genetic counselors, physicians, nurses, and other healthcare professionals who work for these companies, but, from a patient standpoint, a third party may be a preferable source of information.
  2. Relational – No one exists in a social vacuum. Everyone is embedded in a social and economic context that can impact decision-making. Wealthy parents who are highly educated and have extensive resources may feel social and familial pressures to have children with traits that are presumably related to wealth and education. Conversely, less advantaged parents may feel pressure to offer their children as many biological advantages as possible, which they might think include higher IQ or being taller. Eye color? Well, that’s pretty much ethnically embedded. And everybody faces the pressure of having “a healthy baby,” a pressure intensified by advertisements that genetic testing helps assure a healthy baby.
  3. Institutional Conditions – Patients need equal access to affordable health care, control over decisions about when and where to have children, and medical, educational, and financial resources. If everybody has equal access access to the same resources, then a test that predicts an inch of height or a few IQ points is less useful if the appropriate environment will have the same or even better effect.
  4. Weak Substantivism – The process of how a patient makes a decision is less important than how it reflects the normative substance of the decision. In the context of preimplantation polygenic embryonic screening, the normative decision – “the right decision” – may be to have blue-eyed taller, higher IQ children, as imposed by the norms of a White Eurocentric majority. If instead a decision is made that is consistent with patient values rather than strong normative pressures, then it is weakly substantive.

The article is not an easy read for those of us less conversant with the bioethics literature; I had to read it a few times to get a handle on it. I freely admit I may have misconstrued some of their ideas and stand open to correction. But it is an excellent starting point for revisiting the concept of reproductive autonomy in the context of genetic counseling and how the concept of autonomy needs to be relevant to the current genomic universe.

Maybe too we should think about other ethical principals to consider in addition to autonomy. Complex decisions require complex ethics (I will leave that one for bioethicists and the Good Readers of The DNA Exchange to debate). We are living in the 21st century, not the 20th century. And God knows the world does not need eugenics.

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  • The Holmes et al. paper use the term pregnant agent to refer to the pregnant person. This makes sense in the context of their ethical arguments about who has agency to make decisions about pregnancy and the complexities of who can carry a pregnancy and how pregnancy can be achieved.

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by | December 9, 2025 · 10:43 AM

Anatomy of an Industry-Sponsored Talk: Burden, Bias, and Biopharma

I have been reflecting on the recent National Society of Genetic Counselors conference, and I hope to continue a conversation about one session in particular within our genetic counseling community. The session titled, “Hypochondroplasia Unmasked: Recognize, Understand, Advocate,” was an industry-sponsored session, which means that a company paid a fee to host the event. Attendees must reserve a spot for these sponsored talks, and they typically include a meal (in this case, breakfast). This talk, sponsored by BioMarin Pharmaceutical, was held on the first full day of the conference and was very well attended by a robust audience of genetic counselors and students.

BioMarin is best known for Voxzogo (vosoritide), which was granted FDA approval to increase linear growth for individuals with  achondroplasia in 2021. Voxzogo is now approved for use from birth until the end of growth and is administered through daily injections at a cost of >$300K per patient, per year. The approval of this treatment, as well as the manner in which it has been tested and promoted has been controversial in the achondroplasia community. Little People of America, the world’s largest and oldest advocacy organization for people with dwarfism, has raised concerns over the FDA approval and focus on growth velocity, stating that this aim does not meet the health or quality of life needs identified by individuals with achondroplasia and that challenges related to height are mainly a result of social bias, discrimination, and lack of universal design. Those advocating for use of vosoritide speculate that increasing growth velocity may ameliorate some health concerns common to achondroplasia including sleep apnea and spinal stenosis; however, the actual effect is unknown at this time.

Hypochondroplasia is a skeletal dysplasia characterized by disproportionate short stature and mild joint laxity. Its presentation is highly variable, and individuals may reach an adult height that overlaps with typical stature. For this reason, hypochondroplasia may go undiagnosed. Of those who do receive a diagnosis, most people with hypochodroplasia have an identifiable variant in the FGFR3 gene. Variants in FGFR3 are also associated with achondroplasia. 

BioMarin does not have an FDA-approved treatment for hypochondroplasia; however, they currently have an active phase 3 study to assess vosoritide in individuals with hypochondroplasia to determine its impact on growth velocity. The speakers at the NSGC sponsored-session seemed careful not to speculate about vosoritide treatment for hypochondroplasia; yet, the company is regularly talking about vosoritide use in  hypochondroplasia with their investors. On a recent investor call, BioMarin projected the potential commercial launch date of Voxogo for hypochondroplasia in 2027. Chief Commercial Officer, Cristen Hubbard, shared a bit about BioMarin’s marketing strategy: “We’ve built the infrastructure, the relationships, and the expertise to execute effectively as new indications come online, and Voxzogo for the treatment of hypochondroplasia represents a potential significant breakthrough for patients. … many children go undiagnosed for too long, and that is why one of our priorities is improving early diagnosis for hypochondroplasia worldwide. We’re driving initiatives like genetic reclassification, clinician education, and patient and caregiver awareness, all aimed at driving earlier diagnosis. We’re also optimizing diagnostic pathways so that in the future, children can potentially access therapy as early as possible.”

As an attendee at the BioMarin sponsored talk, I have been thinking about how genetic counselors fit into BioMarin’s broader strategy. I believe the talk was intended to help build the relationships with genetic counselors given we often have trusted relationships with patients, families, other providers and health systems. They may also recognize that we support access to genetic testing. And I suspect they recognize that because we are often the first point of contact when a genetic diagnosis is made, we have significant  influence over the initial information patients and families receive regarding resources and potential treatments. 

In many ways, BioMarin is laying the groundwork for genetic counselors to facilitate earlier and expanded diagnosis of hypochondroplasia, while shaping a favorable view of treatment. This positioning seems aimed at ensuring a greater potential patient population in the event of FDA approval of Voxzogo for use in hypochondroplasia.

Of particular concern, the presentation appeared to frame hypochondroplasia in the most negative terms. Its intention likely being to frame  the condition as serious enough to justify early diagnosis and eventual treatment for our patients, but BioMarin’s rhetorical choices troubled me.This presentation aimed to exploit the biases of the audience by emphasizing how shorter stature results in health, social, and emotional harms for people with hypochondroplasia and their families and was done explicitly with a narrative of burden.

In the opening outline, the speakers highlighted the first two key objectives of the talk were to “recognize hypochondroplasia and barriers to diagnosis”, and to “understand the burden and impact of hypochondroplasia.” An online poll at the beginning of the talk asked attendees to rate on a 10 point scale “how well do you understand the burden of hypochondroplasia?” Over 80% of respondents indicated that they did not understand the burden well with a response from 1-3 with 1 indicating “not at all”. One slide heading read, “Hypochondroplasia is a rare skeletal dysplasia that can impose a substantial burden on affected individuals and their families”. The speakers repeatedly emphasized the social stigma associated with shorter stature as a cause of psychological distress. This is particularly problematic given that social stigma is a product of societal discrimination and not a product of short stature itself. Attributing the burden of social stigma to a person’s body rather than societal discrimination reinforces ableist tropes that disabled bodies require fixing rather than calling attention to societal marginalization.  

The presenters reviewed studies on quality of life scores which they used as evidence to justify that hypochondroplasia created a social and emotional burdens for families including difficulty in participating in daily activities, stress and feelings of social exclusion, and environmental barriers to development of autonomy. More progressive views of disability social justice would attribute these same findings differently and note evidence of accessibility barriers, lack of appropriate accommodations, and lack of community support, rather than problems inherent with short stature. This emphasis on the burden felt intentional, to exploit ableist assumptions about stature and disability to convince genetic counselors that competency in discussing hypochondroplasia involves framing short stature as a burden. Consequently, parents could be more easily persuaded that treatment of short stature through pharmaceutical intervention is then necessary. 

At the end of the presentation the speakers repeated the same poll questions – “Following this symposium, how well do you understand the burden of hypochondroplasia?” This time the responses  were almost reversed – nearly all respondents answered 8-10 on the 10 point scale (10 =“extremely well”). The presentation ended abruptly and the microphone was cut before anyone could ask a question. Indeed, when one of my colleagues did stand up to ask a question about the disability social-justice framing of the messaging, and the microphone was not turned on. We followed up with the speakers about the concern and were informed that they do not create the slides themselves but rather rely on BioMarin for the content and framing.

As genetic counselors we value helping families reach a diagnosis and support informed decision making about genetic testing and care. It is crucial that we critically assess  where our information is coming from and the factors motivate the delivery of this information. We need to be attuned to our own biases and recognize when they may be exploited.

I urge my colleagues to recognize how our biases shape how we think and talk about the genetic conditions, testing, and treatment. Please consider carefully the source of the information you receive and seek out information and perspectives from people with lived experiences. As commercial interests in genetic testing and treatment expand rapidly, the choices we make about what information we emphasize, whose voices we center, and how we frame genetic conditions has the power not just to influence individual families’ decisions, but also to shape the societal discourse on diversity and disability.

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by | October 24, 2025 · 12:51 PM

Should DMD Carrier Screening come with an Uncertainty Presumption?

My concerns about carrier screening for Duchenne muscular dystrophy (DMD) were first piqued during a presentation I attended at the Advances in Prenatal Molecular Diagnostics in November 2017. The presentation given by the chief diagnostic officer of genetic testing lab, Sema4, highlighted the lab’s experience with expanded carrier screening. Of 1,200 males in the series who underwent screening for both autosomal and X-linked conditions, Sema4 reported that five males in their 30’s-40’s were identified to have DMD variants interpreted as pathogenic for Duchenne. Upon follow-up, one reported a history of cardiomyopathy and four denied any symptoms or concerns related to DMD. 

To learn that there were cases of adult males with pathogenic/likely pathogenic variants in the DMD gene, with most having no known symptoms in their 30’s-40’s, was surprising and confusing to me. This confusion primarily stems from what we have been taught and what continues to remain in current resources surrounding DMD – that penetrance for the condition is complete for males. It is possible that these individuals could have had subclinical Becker muscular dystrophy (BMD), and perhaps if evaluated they would have had cardiomyopathy or other symptoms that hadn’t yet surfaced to medical attention. But still, five males out of 1,400 screened is far higher than what we would expect with an estimated prevalence of ~1 in 5,000 male births with BMD or DMD per the CDC.  

Sema4 also presented their finding of a very high carrier rate in females who were screened, with 1 in 522 females reported as carriers. This is far higher than anything that had been previously reported and also gave me pause as it would imply that about 1 in 1,000 males would inherit the DMD variant and the expectation to be affected, which is also much greater than what has actually been reported (and this doesn’t even account for de novo mutations). 

What could explain this disparity between the high carrier frequency numbers, compared to the past reports of incidence and prevalence of these conditions? Perhaps it could be explained by variable expressivity and under recognition of individuals with subclinical BMD. Or perhaps, contrary to what we have thought, not all DMD variants are 100% penetrant in males?  Maybe there is another genetic phenomenon that mitigates the pathogenic variants in some people? Could labs be over-calling DMD variants wherein many variants that are called pathogenic or likely pathogenic are actually benign? 

An important study (Ding et al., 2025) published in Genetics in Medicine this month provides an explanation for some of the higher than expected carrier calls for DMD. The study highlighted that intragenic duplications in the DMD gene can be tandem or interspersed. Importantly, interspersed duplications often aren’t pathogenic. This brings forward an existing weakness in carrier screening, in that most clinical screening assays aren’t able to distinguish between tandem and interspersed duplications. Adding to this limitation are the current guidelines on variant interpretation that recommend to err on the side of assuming intragenic duplications are in tandem unless proven otherwise, a practice that has been named the “tandem presumption.” While this presumption may make sense when interpreting a duplication in a patient with clinical signs of the condition, what does it mean when we are making this tandem presumption with general population carrier screening, when patients have no symptoms or family history of the condition? According to the study, by applying the presumption broadly, many duplications will be incorrectly classified as pathogenic. The authors caution, “if the tandem presumption is inaccurate in these patients, it could lead to overestimation of variant pathogenicity—potentially resulting in unnecessary invasive procedures and/or pregnancy termination.”

Given that DMD has been included on expanded carrier screening panels for about a decade now, and we know that more “carriers” have been reported than makes sense when compared to the clinical prevalence of DMD-associated conditions, it seems highly likely that many people have made reproductive decisions based on DMD carrier results that may have been inaccurately assumed to definitively cause a dystrophinopathy. Five minutes searching Reddit for people’s experience with DMD carrier screening will give you a sense of how many people are agonizing about these results and what to do about prenatal diagnostic testing, whether to continue a pregnancy, or grappling with decisions around assisted reproductive technologies including IVF with preimplantation genetic testing.  

Over the years, I have seen multiple patients with positive DMD carrier screening results, provided by more than one lab, and have noticed the following:

  1. Some deletions and duplications reported on carrier screens are absent from the medical literature of people who have DMD-associated conditions. There are also some deletions that are seen in individuals with DMD-associated conditions, but exist on a spectrum from asymptomatic to mild Becker or isolated cardiomyopathy.
  2. Lab reports typically don’t give any indication that these results are uncertain or incomplete; nor do they imply a possibility of variable expression or reduced penetrance. Lab reports typically provide a description of DMD and BMD with a very definitive prediction such as, “Each of this individual’s sons has a 50% chance of being affected and each of her daughters has a 50% chance of being a carrier.”  
  3. My follow-up calls to the labs to speak with a genetic counselor have confirmed that their internal data to the lab shows a much higher carrier frequency than we would expect based on the incidence of DMD-associated conditions.  

I find these conversations with patients about DMD carrier results challenging because it often feels like my questions about the results are at odds with the wording included on the official lab report.

When I have the benefit of talking to patients about carrier testing before they proceed with it, I always discuss the possibility of uncertain information, even though that feature of screening is not clearly promoted as inherent to the test. Unfortunately though, most often we only have the opportunity to meet with patients after the results have returned, and I imagine that many with positive DMD carrier results may never meet with a genetic counselor at all. 

Ding and colleagues offer a recommended decision tree for patients who receive results with a DMD duplication in the absence of personal or family history of dystrophinopathy. In this they recommend additional testing (long-read sequencing) to determine the structural configuration if possible. And if this is not possible they recommend familial segregation analysis. I hope that this study will prompt labs providing carrier screening to strengthen their protocols by recommending or providing additional clinical studies to clarify if these duplications are interspersed or tandem. If labs cannot do this, we need to be realistic about the complexity and time required in coordinating follow-up studies for patients with these results.  

What is our role and responsibility of genetic counselors when considering DMD carrier screening? I believe any genetic counselors and any prenatal care clinicians involved in ordering carrier testing for patients should have careful conversations with patients prior to testing about the possible uncertainty that may arise from carrier screening results for not only DMD but from other conditions included on these panels as well. And in follow-up of positive results there are other steps we can take to help clarify the possible meaning of carrier results – not just with DMD duplications, but with all positive results. 

I encourage all genetic counselors to reach out to advocacy organizations and colleagues with strong expertise in this area. It is understandable that many prenatal counselors don’t have the knowledge or time to complete or interpret literature reviews on a particular variant. Consider reaching out to colleagues through our NSGC Discussion forums or other trusted resources that offer peer contact. For example, the genetic counselors who work for Parent Project Muscular Dystrophy (PPMD) welcome contact from peers who need support in variant review.

I was thankful to recently learn that the genetic counselors with PPMD are open to helping with variant review and follow-up studies for families.  PPMD manages the Duchenne Registry which holds genotype and phenotype data on thousands of patients with DMD and BMD, including mild and asymptomatic phenotypes. PPMD also runs the Decode Duchenne sponsored testing program, which provides both diagnostic testing and carrier or asymptomatic familial variant testing. This program may be utilized for cascade testing of both male and female relatives following a positive carrier screen. PPMD’s Genetics team, consisting of individuals who are certified genetic counselors, can often provide valuable information from their direct experience with the dystrophinopathy community. 

The average age at diagnosis for Duchenne is between 4-5 and is often preceded by years of emotional, physical, and financial strain as parents struggle to find answers for their child’s symptoms. Identifying DMD variants may provide an opportunity for family planning and early treatment that is usually missed. As we learn that some DMD results are less straightforward than originally thought, it’s important that carrier screening results are carefully interpreted so that families who elect carrier screening can receive the benefits of this screening without introducing unfounded worry, or irreversible and potentially costly decisions based on misunderstood results. For now, it is up to our community of genetic counselors to help patients navigate these testing options and results and it is prudent for us to take a cautious and careful approach that goes beyond reading what is printed on the lab report.  

I gratefully acknowledge the Parent Project Muscular Dystrophy Registry Team for their thoughtful review of this work and the valuable feedback that strengthened this post. I especially thank Ann Martin MS CGC, Kayla Banks MS CGC, Lauren Bogue MS CGC, and Katherine Anderson ScM CGC who provided detailed review and who also express their openness to collaboration in interpreting and following up on carrier screening results for our broader genetic counseling community. Their clinical expertise combined with resources to allow for variant follow-up and testing in families will improve and inform our approach to DMD carrier screening and follow-up for all.

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by | October 14, 2025 · 11:48 AM

My DNA Contains Multitudes. So Does Yours.

There are many reasons people undergo DNA analysis. Medical decision making and risk assessment. Prenatal screening and diagnosis. Ancestry testing. Wellness and lifestyle advice so someone can reap profits off of largely useless data. Parentage testing. Police investigations. The analysis might involve different tests, such as sequencing your entire genome (give or take a few million base pairs), targeted portions of it, single gene sequencing, single nucleotide polymorphisms, or karyotyping, to name a few. The results are usually treated as a static bit of information that is an accurate representation of your genetic make-up throughout your lifetime. The implicit message often is that you are the external manifestation of this single DNA test, like a DNA sequence was a map with an arrow pointing at it with the message “You are here.”

But really, no test can come close to capturing all of the DNA in your body. Any one test or set of tests , while they may be highly accurate in the right hands, only capture a DNA sequence in a particular tissue(s) at a particular moment in the lifespan and is useful only for a specific reason such as cancer treatment, assessing disease risk, or reproductive decision making. It’s a snapshot taken with a single narrow lens for a single purpose, not an ongoing video using a multidimensional wide-angle lens. The snapshot could look quite different depending on which tissue is sampled or if the snapshot is taken at a different moment in time.

Let’s start at The Beginning, or actually, just before The Beginning. As the result of meiotic scrambling, maternal and paternal chromosomes will be distributed among the gametes in a bewildering mix of maternal and paternal contributions. Like about 8 million possible different combinations of maternal and paternal chromosomes. Estimates vary because who analyzes each oocyte in the fetal ovaries, but a 20-week female fetus probably has somewhere between two to eight million oocytes. In other words, it is possible that each of those oocytes has a unique combination of maternal and paternal chromosomes. The number of aneuploid oocytes in utero is unknown, but during reproductive years around 10% of oocytes are aneuploid or have an unbalanced structural aberration, with the percentage increasing with maternal age. Trinucleotide expansion repeats responsible for Fragile X syndrome and Huntington disease can arise in oocytes during meiotic prometaphase 1.

In a young male’s typical ejaculate, with tens to hundreds of millions of sperm, there is a higher but still low probability that maybe a few of those sperm will have identical maternal and paternal chromosomal contributions. But about 10-15% of sperm cells have chromosomal abnormalities, with perhaps 90% of those being structural rather than numerical. On top of this, de novo pathogenic gene variants can arise in any gamete, with the probability increasing with a paternal age. And no one has any idea of the frequency of de novo variants in non-coding regions in spermatozoa or oocytes.


Perhaps the only time in human development that we have a single genome is immediately at conception, although that may apply only to nuclear DNA since the mitochondria of the fertilized egg could be heteroplasmic. But as the fertilized embryo undergoes mitosis, different genomes arise almost immediately. Chromosomal mosaicism is detected in a significant number of embryos; anywhere between 2 and 40%, depending on a number of factors. About 2% of CVS specimens, which are derived from the fetal aspect of the placenta, are chromosomal mosaics. Mosaic single gene variants can also arise in neuronal progenitor cells, primordial germ cells, and other tissues. Fetal cells and cell free DNA work their way into in maternal circulation during pregnancy and the cells can persist in maternal circulation for years, a form of microchimerism.

Beyond conception and the embryonic period, somatic gene mutations regulary arise in fetuses, children, and adults in many different tissues. Some mutations are repaired, some persist and are clinically insignificant, and others make significant contributions to human disease. Cancer, for all intents and purposes, arises from somatic mutations. Cancer cells themselves then often go on to develop a bewildering array of mutations as the cancer grows and metastasizes. Mutation profiles can vary within the same affected tissue or between affected tissues. Further DNA damage can be induced by chemotherapeutic agents. Then there’s chromothripsis, where the genetic wheels come off altogether.

Beyond cancer, other medical conditions can arise from genomic variability. Trinucleotide repeats can expand and contract over time and can vary between and within tissues and may significantly contribute to adult and childhood onset neurological disease. Mosaic or segmental neurofibromatosis is caused by post-zygotic NF1 mutations.

Clonal hematopoiesis of indeterminate potential (CHIP) is the result of somatic mutations in hematopoietic tissue and occurs in about 10% of people age 70 or older. CHIP is associated with an increased risk of many diseases, such as hematologic cancers, coronary artery disease, heart failure, stroke, and pulmonary disease.

X chromosome inactivation and mosaicism are another source of intra-person genetic variability. One X chromosome will be largely inactivated in anyone who was born with more than one X chromosome. This could have significant clinical effects, such as manifesting symptoms of Duchenne muscular dystrophy or hemophilia, often depending upon which X chromosome is inactivated and in which tissue. Furthermore, people with more than one X chromosome tend to lose one of their X chromosomes in some of their cells, especially as they age, such that they are X chromosome mosaics, which might lead to cognitive impairment.

Transposable elements (transposons and retrotransposons) are DNA remnants of microbial organisms from our evolutionary past that have been integrated throughout the human genome, the evolutionary equivalent of internet cookies. Perhaps as much as 50% of the human genome is composed of transposable elements. These bits of microbial DNA regularly rearrange themselves within our genomes (thank you Barbara McClintock) during evolution and also within our bodies during our lives, rejiggering DNA sequences and contributing to the development of human diseases such as cancer, hemoglobinopathies, and neurological disorders.

The DNA of immune cells constantly alter themselves through processes such as somatic recombination and somatic hypermutation. This variability allows the immune system to respond in highly specific ways to so many different types of infection and cancers, and to help the healing process.

On top of all of this, we co-inhabit our bodies with all sorts of bacteria, viruses, protozoa, archaea and God knows what else, the composition of which changes regularly. In fact, most of the cells, and therefore most of the DNA in our body, are microbial (it varies at any given moment in time, like after a bowel movement). Since these microbes are symbiotic living parts of our bodies, their DNA is also our DNA.

Mitochondria are likely the remains of a microorganism that was integrated into host cells in our deep eukaryotic past. Mitochondrial DNA can be heteroplasmic, that is, any given mitochondrion can acquire a wide range of mutations that do not occur in other mitochondria. Heteroplasmy can be a significant source of medical conditions, depending on the degree of heteroplasmy and its distribution.

Intra-person genetic variability is one of the many reasons it is foolish and inaccurate to say that our DNA defines us. Each of us has many constantly shifting DNA sequences throughout our bodies and each sequence can play out in our lives in different ways at different times. The interaction of these sequences with each other and with our cellular, bodily, and external environments is so exquisitely and frustratingly complex that it is beyond comprehension by human or, I will wager, artificial intelligence (how could AI analyze the entirety of a person’s DNA sequences if it is impossible to capture all of those sequences at once, on top of which those sequences change over time?). Human beings are infinitely more complex than the near infinite sum of each of our body’s many genomes. We should all sing the body electric.

The love of the body of man or woman balks account, the body itself balks account
– Walt Whitman, “I Sing The Body Electric”

You Are Not Here —>

Matthew Brady’s portrait of Walt Whitman, from the National Portrait Gallery in Washington, DC. https://npg.si.edu/learn/classroom-resource/walt-whitman-civil-war-poet-and-caregiver

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All images, except for the image of Walt Whitman, were AI generated. All of the text was human-generated by me.

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by | September 3, 2025 · 2:27 PM

Why SRY? World Athletics Decides Who Is Female

About a year ago, I wrote a DNA Exchange piece about the history of how the International Olympic Committee, the governing body of the Olympic Games, decided who could or could not compete as a female. It’s not a pretty history. On July 30th of this year, the saga continued as another sports organization, World Athletics*, the governing body of international track and field and related events, issued new guidelines for anyone who wants to compete as a female in international competitions. The guidelines took effect on September 1, 2025.

It’s not pretty either.

Per the guidelines, Eligibility Rule 3.5.1: In these Rules, ‘biological male’ means someone with a Y chromosome and ‘biological female’ means someone with no Y chromosome, irrespective of their legal sex and/or gender identity.

Per Regulation 3.5.4: An Athlete must demonstrate their eligibility to compete in the female category by means of SRY testing (sex-determining region Y gene analysis) of an Athlete’s buccal cells (i.e., cheek swab testing) or blood sample.
a. If the SRY test is negative, the Athlete will be permitted to compete in the female category.
b. If the SRY test is positive, the Athlete will not be permitted to compete in the female category pending further medical assessment by World Athletics.
c. An Athlete who fails to undergo SRY testing as requested by World Athletics will not be eligible to compete in the female category.

Apparently, World Athletics views SRY as the business part of the Y chromosome and therefore is equivalent to having a Y chromosome. This policy makes a geneticist wince – a chromosome is not equivalent to a single gene and a single gene does not a chromosome make.

Technically, per Regulation 3.5.5, athletes who World Athletics rules are biological males can compete in the female category. However, they can compete only if the event is not a World Rankings Competition, their results are not counted for world records, and their results would be listed separately. Not exactly an enticement to compete.

SRY testing is just one way to categorize sex. There are many ways to categorize biological sex in humans besides presence or absence of SRY – anatomy, hormonal levels, karyotype, gamete size, and the many genes linked to the development of primary and secondary sexual characteristics. When all these align, there is usually little controversy as to whether someone is a typical biological male or a typical biological female. However, as geneticists and other concerned medical professionals know all too well, the criteria often do not align. Choosing any one criterion to decide who is male or who is female will inevitably fall short.

For the uninitiated, SRY is a gene located on the Y chromosome that produces a protein called sex-determining region Y protein that can influence the embryonic development of testes and ultimately testosterone production. Testosterone levels are strongly linked to some forms of athletic performance. Often – but not always – individuals who have a functional SRY gene develop typical male primary and secondary sexual characteristics. In a simpler world, anyone born with an SRY gene would be a biological male and anyone born without an SRY gene would be a biological female. But it is unfortunate and inaccurate to call the protein “sex-determining.” The real world is complicated, not simple. Multiple genetic and non-genetic factors influence your biological sex.

For example, there are some individuals have a 46,XY karyotype and positive SRY test and who you would say were female if you saw them walking down the street or naked in the gym dressing room. Some of these individuals have an intact SRY gene but have a DNA variant in the SRY gene that produces a reduced- or non-functioning protein product. Some of these individuals have an intact SRY gene with no functional variants but have DNA variants in other genes involved in the development of sexual characteristics, such as the MAP3K1, DHH, and NR5A1 genes. Some have no true Y chromosome but have a small portion of a Y chromosome containing the SRY region translocated to another chromosome, usually an X chromosome. Some SRY positive individuals have no apparent genetic explanation for the discrepancy between predicted and observed phenotype.

There are also individuals who have a 46,XX karyotype and a negative SRY test and who you would say were males if you saw them walking down the street or naked in the gym dressing room (though some of these individuals may have external genitalia that are not clearly typical male or female). There are even, rarely, 46,XX SRY positive fertile females.

An accompanying FAQ to the guidelines states that the organization will contribute $100 to each athlete towards the cost of the SRY test. I don’t know what labs will charge, but this sounds like a reasonable amount to me. However, athletes may need to travel significant distances to obtain a test to allow for chain of custody. This could be a burden in countries where such labs are not widely available. The test is highly accurate for the presence or absence of the SRY gene when the lab is highly experienced and capable, but currently there is no single centralized laboratory or approved list of labs performing the test for World Athletics, and thus there is no quality control. This may become a problem if testing is performed in many different labs around the world, especially where labs have insufficient experience with SRY testing or have a history of cheating scandals when performing lab tests, such as has been reported with testing for performance enhancing substances.

In a misstep sure to sink the hearts of genetic counselors everywhere, World Athletics guidelines recommend post-test counseling and guidance but unfortunately the organization is silent on pre-test counseling. Incidentally, item 7 on the FAQ sheet refers to “the Y gene,” once again conflating genes and chromosomes. Also, I am not sure why the sample requirements are only buccal swabs or blood samples. A saliva sample should work just as well for SRY testing as a buccal swab and is easier to reliably obtain. Perhaps World Athletics is also conflating buccal swabs and saliva samples? Someone should tell them we’ve updated appropriate samples for genetic testing since the days of Barr body testing.

Athletes who are SRY positive may choose to undergo further evaluation if they want to challenge the result. Athletes who choose to have further evaluation and are found to have Complete Androgen Insensitivity Syndrome (CAIS) can compete as females under certain conditions. But Item 10 on the FAQ indicates that athletes who have DSD conditions other than CAIS will be ineligible to compete as a female: If the SRY test and the subsequent medical assessment confirm that the athlete has a 46XY DSD condition then, unless the athlete has an established 46XY condition called Complete Androgen Insensitivity (CAIS), this athlete is ineligible to compete in the female category in a world ranking competition. In other words, only females with one specific type of DSD can be eligible to compete. This is important because individuals with differences in sex development are generally over-represented in female athletics.

The regulations in other sports governing organizations for determining who is allowed to compete as a female do not always include SRY gene testing. For example, in the United States, the Women’s National Basketball Association (WNBA) and the National Women’s Soccer League (WNSL) do not use SRY testing to determine eligibility to complete in their leagues (for a sport-by-sport listing of female eligibility, see this listing by the Women’s Sports Policy Working Group). The International Olympic Committee has no specific guidelines of their for who can compete as a female. Instead, they leave it to the governing bodies of each sport to determine their own criteria. Thus SRY positive females could compete in some Olympic events but not in others, depending upon the guidelines of the governing body of their particular sport.

The World Athletics guidelines appear to be specifically for individuals with differences in sex development rather than targeting transgender women. World Athletics has separate guidelines for transgender women that basically do not allow a transgender athlete to compete as a female if they have undergone male puberty. But probably many transgender women are SRY positive, so requiring an SRY test would just serve as a further block transgender women from competing as females.

Determining who is eligible for competition as a female is important to maintain fairness in elite level sporting events that rely on power, strength, speed, and endurance, where elite male athletes significantly outperform elite female athletes. If biological males are allowed to compete as females in elite competitions, it could result in fewer SRY negative women competing and winning in international athletics competitions and subsequently earning less income from endorsements.

So what is to be done? It’s clear that separating humans into males and females is biologically complicated and loaded with psychological, personal, religious. and cultural biases. Still, it seems reasonable to develop scientifically based criteria that are as fair as possible to all athletes, recognizing that total elimination of unfairness is likely impossible. These criteria should be consistent across all sports where performance differences between sexes is well documented and the result of biology rather than from cultural practices that limit the opportunities for females to compete in sports. As a start, let me suggest some points that all sports governing bodies should consider:

  1. Support research into the various genetic, environmental, hormonal, and developmental factors that affect SRY gene expression and incorporate the results of that research into eligibility criteria.
  2. Support research into the genetic, environmental, hormonal, and developmental factors that affect both sports performance and the development of primary and secondary sexual characteristics, and incorporate the results of that research into eligibility criteria.
  3. Include qualified genetics professionals as part of the committee(s) that evaluate and choose criteria for determining sex. If nothing else, geneticists can remind them of the distinction between genes and chromosomes.
  4. Allow athletes whose sex is in question to undergo a complete array of biological and genetic evaluation beyond a single test such as SRY, with clear criteria for the role of each test alone and in combination in determining eligibility to compete as a female. SRY is perhaps better thought of as a screening test rather than a diagnostic test for sex. Although even a larger battery of evaluations will still result in some athletes falling into a gray zone, it will be fairer and more scientifically based.
  5. The World Athletics regulations pretty much ban all athletes with DSD from competing, unless they have CAIS. This paints these complex situations with a broad brush. Each form of DSD needs to be evaluated in its own right in terms of eligibility criteria.
  6. Criteria should be guided by fairness to all athletes, and free of political, social, and personal biases and influences. Every athlete deserves to be treated with respect, compassion, dignity, and fairness.
  7. Athletes must, must, must have pre-test counseling by a qualified genetics professional or other medical professional with relevant expertise before any testing is performed. Learning that you have a previously unknown difference in sexual development can have major life-altering implications for one’s sense of self, sexual identity, reproductive future, and potential health problems associated with some DSD conditions. Some individuals may choose to withdraw from competition until such time as they are emotionally ready to undergo genetic evaluation. And I am talking about counseling, not just information provision.
  8. Evaluating criteria should be an ongoing process that takes into account the latest advances in genetics, biology, and medicine.
  9. If other genes unrelated to biological sex are ever found to have a significant impact on athletic performance, will these then be incorporated into athletes’ eligibility to compete? Should it result in the creation of competition categories based on genetic profile and not sex?

Maybe the biggest roadblock to implementing better criteria are the explicit and implicit biases, prejudices, and political ideologies that everyone brings to the table. It will be important to hear all viewpoints with an open mind and with the best interests of athletes as the guiding light.

  • – World Athletics was formed in 1913 when it was known as the International Amateur Athletic Federation (IAAF). In 2001, it changed its name to the International Association of Athletics Federations. The organization’s name was changed to World Athletics in 2019. In a narrow sense, athletics refers to various running sports, track and field, and race-walking.

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by | August 4, 2025 · 2:37 PM

Using Genes to Sell Eujeanics?

The controversy-du-jour in the mediaverse this past week centers on an advertising campaign for a pair of jeans by an apparel company, starring uber-celebrity Sydney Sweeney, that has raised the eugenics specter. It also capitalizes on the faded pun of jeans/genes, which gave me literary leeway to use the weak pun in the title of this posting. The controversy will likely be so short-lived that by the time this posting is up, the world will have its knickers in a twist over something else. But in these polarized times where everyone thinks they are so damned right about everything that they have to let the world know their opinions, everybody’s getting into the act of expressing outrage or support about the ad campaign. Since I too am so damned right about everything (ahem), I figured I should enter the fray.

The Sydney Sweeney video is not trying to sell eugenics by way of the jeans she is wearing. The videos are trying to sell jeans she is wearing by way of Ms. Sweeney’s derrière and breasts. As the Chorus Line number Dance 10 Looks 3 (otherwise known as the the Tits and Ass song) goes, “Debutante or chorus girl or wife/Tits and ass/yes, tits and ass/Have changed my life.” It’s part of the awful advertising tradition of using sex and bizarre notions of a “perfect” body image to sell over-priced products of questionable value. The video ends with a statement to the effect that these jeans can make everybody look sexy, not just slim young white women who meet the Madison Avenue criteria for sexy. Otherwise, product sales would be pretty low.

Some other advertisements linking genes and jeans.

That being said, the ad campaign has its share of eugenic tropes, but they are not unique to this particular ad campaign. I suspect that using these tropes was not a conscious decision to make a statement about eugenics. Instead, these eugenic tropes have been so woven into the fabric of American culture that they are naturally expressed in our language, media, and advertising.

Eugenic tropes in advertising go back over a century. The historian of science/lawyer Paul Lombardo has unearthed older advertisements from between 1910 to 1940, which are a less coy about the eugenics connection than the Sweeney ads. Here’s a few of them (Oh those prices!):

Some eugenic-themed advertisements from the first half of the 20th century, from the work of historian of science Paul Lombardo

Obviously, hairstyles, shoes, and diamonds have nothing to do with genes. Rather, the ads play on the perception that eugenics is associated with superiority. Since the ads don’t explain what eugenics is, it suggests that American consumers were aware enough of eugenic ideology that eugenic notions could be used to sell a product.

The concept of an ideal (i.e., White) female body type was also part of eugenic ideology. The text of an advertisement for a lecture by Albert Wiggam, a notoriously bigoted popularizer of eugenics, about the threat of immigration of “inferior” people, makes this clear: “The American woman is rapidly becoming ugly… her place is being taken by the low-browed, broad-faced, flat- chested women of lower Europe.” The antithesis of Sydney Sweeney. No modern advertising copy would make such a bold-face racist statement (at least, I would hope not, but these days…..). Instead, advertisers use the image of a Sydney Sweeney type because that idealized image of a female body has already been embedded in our psyches. Think of the 1979 Bo Derek movie “10.” Indeed, nearly all advertisements that use sex to sell a product use some variation of this eugenic female image. Incidentally, half of my ancestors migrated from “lower Europe.” The other half of my ancestry migrated from Eastern European, another group of immigrants despised by eugenicists. I didn’t realize how ugly I am until I started reading original sources in eugenics.

Below are some more recent advertising examples that capitalize on the idea that some DNA is superior to other DNA, and that it molds our ethics and character, though the Mini Truckin’ ad is a bit of a stretch to my mind.These examples do not use sexual suggestion to communicate their message.

What it comes down to is that eugenics was so pervasive in American society a hundred years ago that it became, well, part of our cultural DNA to this day. So of course it is going to appear in advertising. Advertisers are not trying to stir up a eugenics revival. Heck, that’s already happening thanks to mad men, not admen. Or, really, eugenics just never went away.

Even inanimate objects can have superb genetics. Toyota no longer produced the Tercel, so I guess its genes were not so great after all.

I could imagine a different version of the Sweeney ad. It would show images of many women of all skin tones and body shapes wearing these jeans and looking sexy. The sell-line would be “They were all born with great genes. But these jeans make their asses look great!” This shifts the focus from hereditarian ideology to mixed genetic/environmental ideology, with the jeans being the equivalent of the environment. Well, perhaps that’s a bit of a metaphorical stretch. But it also changes the discussion from eugenics to Diversity/Equity/Inclusion (DEI), which is bound to raise even more hackles because it’s actually ethical.

Okay, maybe I don’t have a future in advertising.

But please don’t tell ICE about my DEI advertising suggestion. Masked men dressed in black may forcibly drag me off to a prison in a country run by a cruel dictator thousands of miles away. Especially when they get wind of the fact that I am a grandson of immigrants from undesirable countries.

Thank you to Ambreen Khan for bringing this ad campaign to my attention.

Dena Goldberg, the ever-creative genetic counselor, has produced this video about the Sweeney/eugenics controversy. Coincidentally, Dena displayed her singing chops with a rendition of “Dance 10 Looks 3” at the 2020 GCs Got Talent talent show and fundraiser sponsored by the Genetic Support Foundation. Maybe we can get her to reprise her performance at the upcoming GCs Got Talent show and auction to be held in conjunction with the 2025 NSGC Annual Conference in Seattle. And any other GCs who are dancers, singers, comics, story tellers or otherwise creative talents should sign up to perform or donate their arts and crafts creations. The evening event is always a blast. To be hosted by Yours Truly.

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by | June 24, 2025 · 8:57 AM

Addressing Questions about DNA and Data Privacy in the Wake of 23andMe’s Bankruptcy

Brianne Kirkpatrick Williams, MS, LCGC

Should I delete my test account? This question has come with an uptick in frequency given the headlines about 23andMe. It’s a difficult question to answer, because I see the shades of gray needed in the response. Every question is a curveball.

After nearly a decade of managing Watershed DNA, a company that provides genetic counseling services to the DTC genetic testing customers (and their sometimes newly identified relatives!), I have caught more of these curveball questions than Yogi Berra.  

We’ve heard from other genetic counselors, like Katie Sagaser, who wrote about this topic in her recent DNA Exchange post. To delete or not to delete is a question to examine carefully, Sagaser argues; it’s one to take seriously. In her compelling and well-referenced post, she posits it’s a political move to delete one’s 23andMe account. What’s happening with the company’s trove of data poses a threat, if it were to fall in the wrong hands.

The events surrounding 23andMe’s Chapter 11 bankruptcy and its auction (and peculiar re-auction) continue to evolve. Most recently, the bankruptcy court approved the purchase of the company by TTAM Research Institute, a nonprofit organization recently opened by cofounder and former CEO of 23andMe, Anne Wojcicki. The website for TTAM (pronounced “tee-tam”) is bare bones, and there is limited information about the nonprofit at this time. One genealogy blogger to follow for updates is Roberta Estes, and a recent radio interview of J9 Austin is a worthy listen. Even the people with an insider’s perspective at 23andMe, which once included me, are likely on the edge of their seats, anticipating what comes next. This uncertainty which I felt intensely seems to extend throughout the political world, our professional space, and for many of us, our own livelihoods and personal lives.

We ought to feel somewhat reassured that bankruptcies in the genetic testing world are not new, and there is precedent to company acquisitions and transfers of genetic data sets. A few examples of this include Invitae, Navigenics, and Pathway Genomics.

What seems different now–and a major reason data privacy is front-page news–is that these events have transpired at a company whose brand has become synonymous with genetic ancestry and self-knowledge. I can’t recall any other DNA company having risen to the level of fame that it’s service is alluded to in an episode of the Simpsons, it’s personal genome service used by supervillain Gru, and it’s most recent news noteworthy enough to mentioned on a late night show by Taylor Tomlinson.

As tens of millions of people have taken consumer DNA tests, and with the media’s mixed portrayal of these tests, more people are starting to ask how these changes might impact them and their data. I’ve received worried texts from family, questions from clients, and handled an inquiry from a reporter at U.S. News and World Report.

Here’s what I think is most important for genetic counselors to understand. This is an attempt to prepare you to field questions on the high points, not to get into the nitty-gritty.

Q: Can I change my mind about sharing my data, or is it too late?

Consumer DNA companies outline in their privacy policies and other fine print documents their plans for customer data. Those details are located on their websites and can change over time. According to the privacy policies and end user agreements for the major players in consumer DNA testing, users have choice and can change permissions to opt in or out of data sharing.

Someone who has tested at 23andMe, for example, can log into their online profile, navigate to account settings, and modify the check boxes. You can fully revoke permission for all use of data moving forward, and even take it one step further and delete the account. This freedom in choice makes it possible for a test-taker to later change their mind.

It’s worth noting that data and account deletion applies moving forward in time, and you can’t go back and change how data has been used in the past. That’s a sticky point with no getting around.

Q: My family member manages my account; should I ask them to do something?

The process of adjusting opt in/opt out selections must be done separately for each test account, meaning if one person manages an entire family under a single account, they must go through and adjust the settings on each tester. This is relevant for my clients who come from the genealogy world because often, one person is the manager of multiple family members and thus responsible for what happens with the data.

Q: Can they do something dangerous with my DNA?

It’s not possible to clone a person or replicate their DNA from a genotype file because too much DNA data is missing. Plus, converting a computer file of genetic markers back into a biological sample isn’t technically possible (yet, as far as I am aware!).

To be serious, though, privacy policies establish parameters around deidentified data. Some of the language in the documents is standard, and we see a lot of similar language across all DNA test companies (and other industries) that promise to protect data, deidentify it before sharing, and only use it for reasons the user has agreed to.

Explaining “deidentified” to a lay audience means taking a detour down the path of describing the difference between sequencing an entire genome and testing a select set of genetic markers via genotyping. I have found this discussion to be well-received and understood by most listeners. After explaining sequencing vs. genotyping, I explain that deidentified genetic markers are of limited value at the level of a single person testing. The real value is in grouping together bunches of deidentified DNA sets and comparing and contrasting the similarities and differences between them.

The other details a customer provides when ordering and registering a kit (name, date of birth, address, credit card number, self-reported ancestry, etc.) is a different story. Most people aren’t asking about that data when they come to a genetic counselor, though; their concern is the DNA.

Q: Do they still have my DNA sample?

Some DNA test companies dispose of a customer’s biological DNA sample once the test has been run, while other companies store the sample with permission. Check on the website or with customer service at your testing company. If you aren’t sure, login and check the permissions section; you’ll see what option you selected at the time of kit registration regarding sample storage. There is a process to request that stored samples be destroyed (unclick a check box). 

Q: How will I know they deleted my data and sample?

This is another sticky point. The responsibility for fully completing the deletion process lies entirely with the company, and this is where we see a level of uncertainty and mistrust persist. Some people feel comfortable trusting that a company will follow through as promised, while others tend to remain skeptical. 

In my own experience, after requesting sample destruction and deleting multiple DNA test accounts, I did not receive a confirmation email or other notification once I pressed the button to confirm. After deleting my account, my login credentials no longer worked. This has left me feeling a level of ambiguity that is likely shared by other customers. I wish there were some form of communication or other way to “prove” that the follow-through happened on the company’s end.

Q: Should I trust any DNA company with my data?

I don’t have an easy answer for this one, other than it becomes a personal decision to test anywhere, based on an assessment of potential risks and whether they outweigh potential benefits.

Trust in any industrial operation is a bigger question than just one DNA company. As with any institution with which we are willing to share our information, we place our belief in them to “do the right thing.” A non-profit institution (TTAM Research Institute, seemingly an acronym for twenty-three and me) has purchased what was once a for-profit venture (23andMe), apparently to continue the testing and research operations as before. Should we as possible future or past customers and as genetics professionals immediately have more trust because the new to-be owner isn’t a company, it’s a research institute?

Q: Why would anyone do one of those DNA tests anyway? I never would!

For many of my clients — and myself and members of my own family — consumer DNA testing has been incredibly helpful in filling in the gaps in information about family, ancestry, and health that could not be filled in any other way. For the adopted and donor-conceived individuals, people with unknown parentage, unexpected family DNA matches, and those searching for a long-lost relative, there is often no other option than using consumer DNA tests to continue a biological relative search.

Up to now, there has been no other option for a genetic relative finder service or reliable genetic ancestry information without relying on for-profit industry. Perhaps TTAM Research Institute, by entering the space as a non-profit institution, is changing this?

It is completely fine to swear off all genetic testing, and I attempt to validate the “I would never” comments when I hear them…but not without trying to offer a little education, if the listener will receive it. Choosing to fully forego consumer DNA testing is a privilege. It’s a privilege often taken for granted by those who already possess a complete understanding of their genetic identity and do not require genetic testing to fill in the gaps.

Q: Who can I trust with my DNA?

Millions of people trust universities and research institutions and share their DNA and medical history for scientific research. Tens of millions of people trusted consumers DNA test companies enough to choose their services at some point in the past 20 years. But now some of that faith in institutions has eroded due to concerning headlines about bankruptcy and who might take over 23andMe’s data.

I believe that the reputational harm at one well-known company impacts the entire genetic testing industry. There is a lot of rebuilding to be done to create a sense of safety and trust in genetics, to overcome the harm done to consumer trust.

It’s a quandary, and we genetic counselors would do ourselves and our patients and clients a service by viewing one another as members of the same team. It’s not a time for trash-talk from the dugout. It’s a time for banding together across industry, non-profits, research institutions, hospital systems, private practice, and more. “You’ve got to be very careful if you don’t know where you are going,” to quote Yogi, “because you might not get there.”

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by | May 27, 2025 · 9:00 AM

Guest Post: Why Deleting Your 23andMe Data Is a Political Imperative

by Katie Sagaser, MS, CGC, Licensed, Certified Genetic Counselor

Katie Sagaser is a genetic counselor, health strategist, and storyteller who has spent more than a decade translating complex science into human-centered health communication. She has worked across clinical, start-up, and industry settings to expand access to innovative genomic technologies, particularly in reproductive health and preventive medicine. Her academic writing focuses on reproductive justice, race-based medicine, and the ethical challenges of emerging genomic tools. Katie’s work is grounded in a commitment to public engagement and building trust in an increasingly complex health data landscape.

Disclaimer: The views and opinions expressed in this piece are solely my own and do not represent those of my employer, past or present, or any affiliated institutions. This content is provided for general informational purposes only and does not constitute medical advice, legal advice, or any form of professional counsel. Readers are encouraged to consult appropriate professionals for guidance related to their own circumstances.

I don’t usually check the U.S. House Oversight Committee calendar multiple times a day. But it’s been over a month since Anne Wojcicki – co-founder of 23andMe – was summoned to testify before the Committee. And I’m especially interested in what might be revealed in this interaction.

23andMe is in class 11 bankruptcy proceedings. My former employer, along with its database of ~15 million consumers, is for sale in a court-supervised auction. On May 19, Regeneron Pharmaceuticals’ $256 million bid was approved for the acquisition of substantially all of 23andMe’s assets. Wojcicki’s new TTAM Research Institute trails at $146 million as the stalking horse bidder. Until the deal closes, the fate of 23andMe and its database remains uncertain. 

As a board-certified genetic counselor, I used to believe that participation in consumer genetic research was a personal decision. But with the ambiguity of 23andMe’s future and the acceleration of authoritarian federal rhetoric, I now believe the present choice of whether to delete your 23andMe data is not just personal, but political.

Big tech, politics, and the DNA marketplace

Since its founding in 2006, 23andMe has been a Silicon Valley disruptor. Wojcicki, sister of YouTube co-founder Susan Wojcicki and then-wife of Google co-founder Sergey Brin, envisioned a future where your genome powered both personalized health and scientific discovery. In her words, “it was set up to be a database you could leverage for research.” 23andMe’s origin story was all about advancing medicine, but in today’s political climate, it invites scrutiny about what types of research may be prioritized next, and who gets to decide.

As we’ve learned from Facebook, data collection can be weaponized. Silicon Valley’s techno-optimism risks being replaced by something more extractive and predatory – and often more politically aligned with authoritarian and de-regulationist agendas.

Wojcicki is not typically included in the pantheon of politically active tech moguls like Elon Musk, Mark Zuckerberg, or Peter Thiel. But she is part of the network. In 2013, she co-founded the Breakthrough Prize (the “Oscars® of Science”)alongside Brin, Zuckerberg, and Yuri Milner, the Russian-born investor with early stakes in Facebook, Twitter, and Cadre, the fintech company previously tied to Jared Kushner. Today, Wojcicki remains on the Breakthrough Prize Board with Zuckerberg and Milner. This year’s ceremony featured Open AI co-founder Greg Brockman and Amazon founder Jeff Bezos, with Rupert Murdoch, Bill Gates, Marc Andreessen, Sam Altman, and many other business/tech giants in attendance. The Prize awards tens of millions annually to research in fields like genomics, AI, and neuroscience, positioning its founders not only as philanthropists but also as private curators of scientific legitimacy. This model is increasingly common among tech elites: use personal capital to shape public narratives about which ideas deserve funding, prestige, and attention. In addition to this soft power, Wojcicki has exercised traditional political influence in her significant donations to Democratic causes, while also championing consumer autonomy through DTC health technologies – a model offering unprecedented access, but one that’s historically operated with limited oversight and minimal integration into traditional health systems. In what may be mere coincidence – or a telling reflection of biotech’s tight-knit power circles – renowned geneticist Dr. Huda Zoghbi (a 2017 Breakthrough Prize in Life Sciences $3 million laureate) now chairs the Breakthrough Prize co-founded by Wojcicki and also sits on the board of Regeneron, the company poised to acquire Wojcicki’s former firm. Wojcicki’s proximity to power, her company’s consumer data library, and her current positioning as co-founder, majority board member, former CEO, and prospective buyer all matter. As the owner of >20% of 23andMe’s total outstanding shares, Wojcicki will financially benefit from any sale – particularly if 23andMe is purchased by a buyer within the same Silicon Valley power structure that has historically rewarded growth over ethics. 

23andMe’s database is a trove of genetic identity and self-reported behaviors from ~12 million 23andMe consumers who opted in to research. It’s one of the most diverse civilian biobanks in the world. The Genetic Information Nondiscrimination Act (GINA) has protected against employment and health insurance discrimination since 2008, but there’s no similar protection for life insurance, disability coverage, long-term care, military service, or education. And as recent years have shown across every governmental branch, even long-standing federal protections are not guaranteed in perpetuity. From the Supreme Court’s reversal of Roe, to executive orders eliminating diversity and inclusion protections in federal agencies, to growing calls for deregulation in Congress, the landscape is shifting. As such, the question of who gains access to Americans’ data becomes more urgent in terms of privacy, power, politics, and national security.

Policymakers have shown growing concern over foreign control of personal data, as seen in the efforts to force a sale or ban of TikTok due to its Chinese ownership. 23andMe confirmed that bids would not be considered from entities based in adversarial countries. But if TikTok’s collection of behavioral data was considered a national security threat, how should we classify the risk of selling Americans’ genetic blueprints – even to a domestic buyer? 

A US-based company may not raise geopolitical alarms, but geographic exclusions don’t guarantee ethical intent – or consistency with consumer expectations. This concern has now reached the legislative branch. On May 22, a bipartisan group of senators introduced the “Don’t Sell My DNA Act,” aimed at preventing companies in bankruptcy from selling genetic data without explicit consumer consent. The bill reflects growing recognition that America’s patchwork of genetic privacy laws has not kept pace with the data economy. 

It’s unsurprising that 23andMe’s top bidder was a pharmaceutical company. Together with insurers and surveillance tech firms, there’s clear rationale for such entities to have strategic interests in large-scale, de-identified genomic data. Regeneron has a large portfolio including drugs for COVID-19, diabetes, cancer, and rare diseases. Many of these therapies are expensive and inaccessible to the same communities whose data may soon power their development. 

The question is not merely who buys 23andMe’s assets. The question is: What do they intend to do with them in a system where the lines between innovation, surveillance, and profit are increasingly blurred? 

This is why Wojcicki’s Congressional testimony is so important. Whether the buyer is Regeneron, Zuckerberg, Musk, a venture-backed startup with a eugenics-lite pitch, or someone with a political agenda – there is financial incentive for Wojcicki to cooperate with their vision. I want to believe Wojcicki’s positive intent. I’ve met Anne. I’ve heard her speak with conviction about democratizing health information and protecting genetic privacy. I think she would agree with billionaire investor Marc Andreessen’s claim that, even as a Fortune 500 CEO, being able to say “‘I’m a good person’ is wildly more important than profit margins.” I believe she cares about science and research integrity. I truly believe in the mission and values of the company she co-founded. But the same infrastructure that was built to empower consumers stands at risk of being weaponized, and the people who built it may no longer be in a position to stop it. 

The uncomfortable truth is this: the surveillance and commodification of the human genome may not be an unintended consequence of Silicon Valley’s involvement. It may be the business model. 

And when the scaffolding of law, policy, and ethics collapses, what was once an act of hope and belief in science can become something more dangerous. 

From altruism to ammunition

Long before Regeneron’s bid, it’s been possible that your data would be used to develop drugs you can’t afford. But initiatives like 23andMe Research have typically been framed as altruistic opportunities – a way to contribute to science, to equity, and to discovery. Under GINA, with oversight from the Federal Trade Commission (FTC) and institutional review boards, that framework seemed ethical and secure. But if those guardrails collapse, then what was once altruism becomes ammunition.

Your data could be used:

  • To build or repurpose algorithms that assess risk for addiction, noncompliance, criminality, or other traits that could be considered “undesirable”
  • To profile voting behavior or susceptibility to disinformation, and tailor political campaign advertising accordingly 
  • To develop tools for insurance exclusion, policing, or even surveillance by genetic subgroup

This isn’t theoretical. The Chinese government has already built a massive DNA surveillance database to include data from individuals with no history of serious criminal activity. In the US, the Department of Homeland Security has expanded DNA collection from immigrants, raising concerns about privacy and potential misuse. The Snowden leaks exposed the scope of US domestic surveillance, revealing that government agencies had secretly collected massive volumes of personal data from phone and tech companies with the full cooperation of these entities. Whether one views Edward Snowden as a whistleblower or a traitor, the documents he leaked revealed that systems designed for one purpose can be quietly repurposed and expanded, often without public knowledge or consent.

Meanwhile, US public health rhetoric is veering towards eugenics. Secretary of Health and Human Services Robert F. Kennedy, Jr., recently described autism as something that “destroys families,” echoing the decades-old eugenic argument that neurodivergence is a preventable flaw. Kennedy has also promoted “wellness farms” for individuals with addiction and mental illness – proposals that have drawn chilling parallels to institutions that historically housed disabled people under the guise of care, but enacted forced sterilizations and labor. 

NIH Director Dr. Jay Bhattacharya recently announced the launch of a new real-world data platform designed to integrate “diverse data enabling researchers to examine complex factors influencing autism spectrum disorder rates.”  The platform will aggregate data from public and private sources, including wearables, pharmacy chains, health organizations, claims/billing, and clinical encounters. It’s unclear whether individual consent will be obtained for data inclusion – a gap that aligns with current federal rules regarding de-identified, aggregate data under HIPAA and the Common Rule. Notably, the platform’s initial data sources will include lab and genomic data from patients treated by the Department of Veterans Affairs and Indian Health Service – two federally administered healthcare systems that fall outside the scope of GINA’s health insurance nondiscrimination protections (as these programs are not “health insurers” as defined under the relevant statutes GINA amended*). The NIH is also exploring expanded access to data from the Centers for Medicare and Medicaid Services (CMS). This expansion would bring genomic data from disproportionately low-income, elderly, and disabled Americans into the same AI-enabled platform. In combination with data from veterans and Indigenous patients, the project’s priorities raise questions about who is being studied under this administration, and why. Furthermore, the White House recently issued an executive order eliminating disparate-impact liability, a key civil rights tool. In a world without GINA and disparate-impact liability, algorithmic decisions based on genetic data could exacerbate existing inequalities without legal recourse. 

In this climate, it’s not hard to imagine how a vast genomic dataset could be used to identify, profile, or even segregate people based on their neurotype, ancestry, or perceived productivity. Today, such a genomic dataset in the hands of the wrong buyer is a risk to privacy, public health, civil rights, and democracy.

The limits and fragility of GINA

Genetic counseling involves many discussions about GINA’s limitations – but have we really considered them all? There’s no protection against algorithmic profiling, behavioral targeting, or the secondary use of genetic data to shape public opinion or influence voter behavior. In a second Trump administration, particularly under the influence of figures like Stephen Miller, creating an end-run around GINA – not through repeal, but by defunding enforcement, narrowing interpretation, or passing competing legislation – could be framed as part of a broader effort to deregulate healthcare, dismantle administrative agencies, or restore “freedom” from federal oversight. In a world where GINA is quietly eroded, there’d be no federal barrier to a private buyer – or the government itself – using genetic data (even de-identified) to profile, exclude, or penalize individuals based on perceived risk. What happens when your most personal biological information is no longer protected by the government – but owned by it?

Multiple states petitioned the bankruptcy court to appoint a Consumer Privacy Ombudsman (CPO) during the 23andMe sale. A CPO with expertise in privacy law, cybersecurity, and medical data governance will assess whether any proposed sale of personally identifiable information is consistent with 23andMe’s existing privacy policies and complies with applicable law; there will also be a formal report issued at least seven days prior to any sale hearing. While this is important for consumer protection, the CPO’s authority is still limited. The CPO can’t control what a future owner, especially a governmental entity, might do with de-identified data once a sale is finalized. Even if states have or enact strong genetic privacy laws, those laws only apply to private actors – not to federal agencies operating under national authority. 

Many of us didn’t see this coming. We mistook marginalized communities’ skepticism of federal protections as ignorance, when in fact it was inherited wisdom shaped by history and experience we chose not to hear.

Research participation without protection can lead to exploitation

Informed consent only functions when the system itself is trustworthy. When federal protections collapse and genetic data is a commodity, then consent becomes a trap. Consent forms can’t shield individuals from misuse of their data in the absence of legal protections or government accountability. Privacy policies don’t protect you from a collapsed regulatory state.

If federal protections disappear, and agencies like HHS, NIH, and the FDA are dismantled, then research participation is no longer voluntary in the way we imagined. It becomes political, strategic, and risky.

We have to stop asking if patients and consumers are making “informed choices,” and start asking whether the system is still safe enough for “choice” to be meaningful.

The decision to delete is now a political act

I used to think deleting your 23andMe data was a personal decision. But I now believe it is a political one – and perhaps the most radical act of autonomy one can take at this moment in the second Trump administration. 

Keep in mind, when a customer submits a 23andMe deletion request, deletion may take up to 30 days to complete, and it’s technically possible the data could still be used in the interim. Furthermore, deleting your data doesn’t remove it from any prior research studies. Still, deletion remains the most direct way to prevent your genetic and phenotypic data from being accessed or repurposed by 23andMe’s future owner – whether that’s Regeneron or someone else.

Deleting your data may be a scientific sacrifice, but it is also a powerful refusal to let your genome be sold, leveraged, or weaponized. It is a protest against the commodification of identity and a defense of vulnerable communities. And it is, perhaps, our last chance to opt out.

_____________________________________________________

*GINA Title I amended the Employee Retirement Income Security Act of 1974 (ERISA) to prohibit discrimination by group health plans and health insurance issuers, but ERISA explicitly excludes government plans:

  • 29 U.S.C. § 1003(b)(1): “The provisions of this subchapter shall not apply to any employee benefit plan if — (1) such plan is a governmental plan…”

29 U.S.C. § 1002(32) defines a governmental plan as a benefit plan “established or maintained for its employees by the Government of the United States, by the government of any State or political subdivision thereof, or by any agency or instrumentality of any of the foregoing.”

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