Rare Disease & Me
Severing the Tie between Genomics and Eugenics
Today, 28 February 2022, marks Rare Disease Day. I don’t usually pay attention to this sort of day, but my recently joining Genomics England’s Participant Panel and other recent personal events have placed the natures of “rarity” and “disease” at the forefront of my mind, and, as I think best by writing, here we are!
This will not be a heart-wrenching story about valiantly overcoming obstacles as someone who has my underlying condition (anything like that would be a gross exaggeration and inappropriate sensationalism). Rather, this post will be about the usefulness of genomics research to individuals who live with different genetic conditions.
I aim to defend genomics research before a common misconception: it is inevitably linked to eugenics. With that goal in mind, I begin by providing a short introduction to the pseudoscientific and ideologically abhorrent movement of eugenics. Then, I outline three distinct broad motivations for genetic research — knowledge about “human nature”, potential avenues for “human enhancement”, and understanding of individuals’ genetic make-up. Each goal will be evaluated in light of a version of “an objection-from-eugenics”. Whilst the third seems the most readily defensible, I will suggest measures for each motivation to chip away at the objection that genomics research is inherently linked to eugenics. The five measures are finally listed together in the concluding section.
Eugenics, a very very short introduction
Eugenics was a pseudoscientific movement that gained traction at the start of the twentieth century and culminated in heinous experimentations conducted by the Nazi regime in 1930s and early 1940s Germany. The movement was motivated by the belief that society can be improved by selecting what genes prevail. Let us consider three beliefs generally shares by proponents of eugenics: that humans have quantifiable traits, that concepts such as race and gender are rooted in biology, and that natural evolution and progress are one and the same process.
Measuring Humans
The development of eugenics was linked to the works of some of the intellecual founders of modern-day statistics, including Francis Galton (1822–1911), Karl Pearson (1857–1936) and Ronald Fisher (1890–1962). Quantifying information about people was, therefore, a characteristic of eugenics. A clear example of quantification in this sense appears in Galton’s “anthropometrics”, literally the study of “measuring humans”.
Galton’s Anthropometric Laboratory was first showcased in 1884 at University College London (“UCL” hereafter; Kiladi, 2019). Galton thought that human ability and behaviour could be identified by biological markers. So, he set up his lab and started collecting data by measuring different physical traits in people (UCL, n.d.).
On the face of it, this might not be a controversial development. However, the assumption that there are measurable traits that can be correlated with other such traits raises significant concerns. Some of these are outlined in what follows. For now, consider the impact on UCL’s image as their ties to the eugenics movement underwent increased scrutiny (see Anthony, 2020; aldo Saini, 2019), as well as UCL’s appointment of a Commission of Inquiry into the History of Eugenics at UCL in December 2018 (Bernal Llanos, 2020), and their formal apology in January 2021.
“Biological Reality”
The capacity to “measure humans” relies on the assumption that there is something to measure. The field of biology could provide the scientific basis for making claims about that which is supposedly measured. Human behaviours, abilities, appearances and so on — the idea went — is linked to one’s biology. The “anthropometric” data Galton had been interested in could be put to use to determine what biological traits correlate with one another and with broader concepts. This idea had huge repercussions.
One example where the assumed scientific validity of anthropometrics was applied was in education. The “intelligence quotient” (IQ) was developed to determine children’s intellectual potential at the beginning of the twentieth century (see Janes, 2013). Concepts like IQ could then be used to identify how groups form a social hierarchy. In a world where European colonisers had perpetrated terrible injustices for their desires of world domination, being white would become a sign of intellectual superiority. Measuring became a tool of oppression. By holding racist beliefs, anthropometrics could be used to identify “races” and instantiate white supremacy (see Croizet, 2012).
Other measurements proved equally dangerous. Numerous studies tried to show that men have larger brains than women and, therefore, are more intelligent. In our patriarchal society, these ideologically driven studies would justify corrupt structures that meant women couldn’t vote or hold employment, for example (see Eliot, 2019). Of course, none of these beliefs are just, nor are the experiments they were founded on scientifically adequate; but eugenics continued to draw on biology and statistics, seemingly following some “scientific method”.
Progress as Evolution
Eugenicists believed in society progressing through the “improvement” of its gene pool. In other words, they held that we can evolve by ensuring that only “good genes” proliferate.
This idea was founded on a naïve interpretation of Darwin’s theory of evolution. Darwin had taught us, years after his voyage on the Beagle in the 1830s, that, through a rather unpredictable process, physical traits would either help a specimen’s survival and be passed on to its descendents, or perish with its carrier. This idea fascinated eugenicists like Darwin’s cousin, Galton. The goal became the proliferation of “good genes”, those that ensured only the “survival of the fittest”. More precisely, the goal was the destruction of “bad genes”. If we can find what genes are not conducive to our survival and evolution — the eugenicist thought — it should be eliminated. This myth caught on in the Nazi ideology of Adolf Hitler, who perpetrated a genocide against black people, disabled people, Roma and, above all, Jews. This was in the name of building a society that had only those “good genes”. The eugenics movement peaked and has been deemed a dangerous ideology ever since.
However, the spirit of eugenics lingers on. White supremacy continues to be backed by the capital of organisations like Pioneer Fund, which supports the inquiry into genetic bases for racial and behavioural differences (see Miller, 1994–1995; and Genoves, 1961, on the early days of the fund’s “academic” journal). Thus, social hierarchies are upheld by age-old structures that reflect past injustices. Confused ideologies have also emerged in recent times to argue for the “biological reality” of a binary of sex, advancing poor arguments against the very existence of trans and non-binary people (Butler, 2021). The idea that certain people’s lives make the world a less happy place has even been shared by science influencer Richard Dawkins (Fraser, 2014; Dawson, 2021)
The spirit of “measuring humans” is ever-present, and the science of genomics — studying the very building blocks of human life — intuitively carries that spirit forward. In what follows, I suggest three broad motivations for the pursuit of genomics research and suggest that, although they are not exempt from objections-from-eugenics, certain measures can be put in place to refute such objections.
Genomics, three very very broad goals
Genomics is the study of the genome, which is constituted by the DNA of living beings. Horses have genomes, birds have genomes, fish and whales and worms have genomes. I am here interested in genomics as the study of human genomes, vaguely noting that animal genomics can raise other ethical questions.
There are at least three very broad goals in modern day genomics: defining “human nature” scientifically and precisely, pursuing “human enhancement”, and helping people in light of their genetic make-up. In this section, I expand on each goal and suggest that the third stands furthest from the top of the slippery slope of eugenics.
Genomics on Human Nature
What does it mean to be human? This is one way of formulating the “human nature question”. The assumption here is that there is a fixed, immutable “essence” that we all share as humans and that makes us different to all other living beings. It might be considered a rather alluring assumption; that something unites us all; that there is something every person around the globe has. The human nature question in genomics asks for what is that stuff that we all have, and develops scientific methodologies and tools to study that “stuff”.
To describe the human nature motivation, I will briefly consider the Human Genomes Project. This section is not to be read as a critique of the project, which is evoked simply as a well-known example that is relevant to the present purpose. The point of this section is to call attention to two factors that can keep genomics research from stepping onto the slippery slope of eugenics: the appropriate use of language, and clear applications of research findings.
The Human Genome Project was an international effort to sequence the building blocks of the human being. The sequencing of “the” human genome was seen by some as assuming that there is only one such genome (Gannett, 2019: §2.1.3.). That assumption would preclude the project’s outputs from handling the great genetic diversity that we find amongst humans. It was thought by some that the human genome project would produce a template genome that could be used as a measuring stick to establish whether people’s genes “conformed” or did not meet the standard.
The notion that the Human Genome Project could result in a “standard” human genome rendered it a straightforward target for an objection-from-eugenics. For example, was the project going to result in template for all people to adhere to? Might this then feed into definitions of what it means to be “healthy” or “normal”? More incisively, could the “template” be used to identify “good” genes from “bad”? Two points will be spelled out here: one on language, and one on applications.
On language, we must note that the words like “healthy” and “normal” carry a great deal of baggage. Being “healthy”, on the one hand, might be jeopardised for different periods of time. Perhaps one becomes sick for a few days due to a flu or a cough. Our health might be afflicted by longer-term conditions, perhaps for life. With these, we must learn to live under new conditions. We adapt, reset our own understanding of “healthy”. The idea of health becomes a dynamic concept (Krahn et al., 2021). But it is also a term that might be used comparatively, between different people rather than to only our current and past selves. For example, my own condition — which I was born with and I imagine will take to the grave — doesn’t allow me to go for a jog or exercise in the way my GP is accustomed to prescribing to patients. Does this make me “unhealthy” compared to “healthier” patients? What other “healthy life-style choices” are there that I and so many other people around the world cannot realise? Are some of us “unhealthy” from birth and for life? Surely not!
The interpersonal comparative function is played more clearly by the term “normal”; i.e.: what makes one person “normal” and another person “abnormal”? Walsschmidt (2006) provides a useful distinction to make sense of this question. She suggests distinguishing normativity and normality. Normativity relates with the social rules and laws we are all governed by — imposed norms, so to speak. Normality is about comparing oneself to the “statistical average” that we find in “everybody else”. In the normality sense, I can say (with some pride, may I add) “I am not normal” (my neurological condition is not something we find in many people). If we take this assertion in the normative sense, we have a problem: I am being coerced into needing to be “normal”; I can no longer be myself in the eyes of society, as I must meet its “normative standards”.
In either case, what is normal changes throughout time. Back in 2003, when the Human Genome Project finally sequenced an entire composite human genome, the statistical average would have been that one sequence — there were no other genomic sequences to compare to. I wouldn’t meet the definition of normality if my genetic make-up was found to be different to the Human Genome Project’s output. In a world where genomic sequencing is now much cheaper (Schawrze et al., 2019), the “average genome” would be very different. Normativity, too, changes, perhaps more clearly, if we consider how laws change from year to year, and country to country.
Both normality and normativity hint at my second concern: who decides what is “normal”? We already pointed to eugenics providing a pseudoscientific basis for white supremacy, racism, misogyny and transphobia. Might what is “normal” be defined in a way to uphold unjust social structures? It is important here to recall that eugenicists thought the world best progresses by eliminating those who carry genes that are not to their liking. This places a great burden on those who conduct genomics research, as it seems that their work could be used by nefarious agents to target entire populations.
The distinction that matters here is that genomics pertains to the study of unique genomic sequences, whilst eugenics is about the manipulation of a society’s gene pool. The two concerns then relate with how scientists in genomics speak of normality (it is debatable that “normativity” as defined earlier on should be discussed in narrow lab studies), and how they treat data. On the one hand, what is “normal” must clearly be identified as that which is “statistically typicsl”, so to speak. A technical or statistical definition of “normality” must be employed, if the word is employed at all. On the other hand, genomics research must be conducted with clear data governance mechanisms in place to limit the ways their data can be used. In other words, to keep nefarious actors at bay, data must be stored securely and shared only under strict conditions and for pre-defined and pre-approved applications.
The relationship between genomics and eugenics is only possibly severed under the conditions described in this section: clearly defined terminology and adherence to strict guidelines in regards to data processing. However, the general purpose of studying genomics to define “human nature” reminds us of the spirit of eugenics in quite intuitive ways, and the break between the two is not so clear. The distinction becomes even more diffuse in the case of genomics for human enhancement.
Genomics for Human Enhancement
Human enhancement can be defined as a spectrum of interventions to “enhance” people. At the extreme end, human enhancement makes us think of the X-Men or Superman; beings that have somehow evolved into something “beyond” human. At the moderate end, human enhancement might be drinking coffee in the mornings to feel energised for the day ahead, or wearing glasses to read without straining your eyes. We are continuously consuming and employing these less eccentric forms of “enhancing” products to perform at our best. But genomics can take us far beyond short-term increases in energy.
“Human enhancement technologies” have come a long way since in vitro fertilisation was achieved in 1978 (Eskew & Jungheim, 2017). This technique allows for the fertilisation of a pre-ovulatory oocyte from an ovary in a test tube. The resulting eight-cell embryo is then transferred into the biological mother’s uterus to develop. Later, in the 1980s (Human Genetics Commission, 2004), preimplantation genetic diagnosis was developed to select in vitro-generated embryos on the basis of whether they carry genetically inheritable conditions or not. A much more recent development is that of CRISPR (Jinek et al., 2012), a sort of “genetic scissors” (Nobel Media, 2020) that detect and modify genomes “in both embryos and adults” (Masci, 2016). And the discoveries continue, with AlphaFold (Jumper et al., 2020) now allowing for the prediction of proteins’ 3D structures and, hence, their functions in the human genome. This could help “make sense of disease-causing gene variations that differ between people” (Callaway, 2020).
The ability to pick and choose what “enhancements” we want will respond to varied notions of what the “best genes” are. To focus the discussion slightly, consider somewhat random — and purposefully fictional — ways one might want to “enhance” their child. Some parents may wish for their children to become jockeys and, therefore, be genetically predisposed to being fit and light. Other parents may wish for a child to be big enough to compete as a sumo wrestler. These might be strange examples, but things get stranger still if we think that we would like our children to adhere to the intellectual and physical standards that will best allow them to succeed in the world. After all, we only want the best for our children and to ensure that they can make the most of life. Looking to those who have been successful in society might inspire us to genetically modify our children in certain ways and not others. Two significant problems emerge for this use of genomics research.
On the one hand, as the old saying goes, we live in a society. The behavioural and physical traits that we encounter amongst those who are “successful” influence how we identify means to achieve success. If I see in the movies that the most famous actors are white men with sharp jawlines and blue eyes, I might want my child to be white and male, be predisposed to a muscular build, and have blue eyes. More broadly, we will likely end up copying and pasting whatever certain elites already roughly share amongst one another (and it is a rather homogeneous elite) perpetuating the inequalities that are already present between those elites and the rest of the world.
On the other hand, who has access to technology such as CRISPR or whatever the next development is? In the context of exploring how humans have evolved, Nozick (1974) suggests a “genetic supermarket” as a thought experiment. The genetic supermarket would be a free market of genetic technologies that would meet “the individual specifications (within certain moral limits) of prospective parents” (315) without state intervention (Gavaghan, 2007). This means that, provided the technological capacity, parents could effectively choose their children’s features limited only by what science can safely provide. Framing human enhancement technologies as a free-market question hints at the financial aspect of such technologies. Put bluntly, only the wealthiest would afford to enhance themselves and their children. Even as a matter of degree, those who are wealthierwill be able to afford greater enhancements (whatever that might mean). Putting it even more bluntly still, the world’s first real-life superman will most likely be a billionaire.
The objection-from-eugenics here seems harder to refute than in the previous section. It is unclear how human enhancement technologies will not lead to decisions made or influenced by powerful elites shaping society’s gene pool. Furthermore, human enhancement as enabled by a genetic supermarket brings to mind a dystopian future where there are enhanced elites and unenhanced people who, in turn, might be categorised as — to use a common term — disabled or not. This raises a further conceptual concern that I discuss in the following section on genomics for understanding.
Genomics for Understanding
We have seen that pursuing genomics to define human nature can raise significant ethical challenges if language is used unclearly and data are not treated securely. We have also seen that studying genomics for the purpose of enabling human enhancement through something like a genetic supermarket is difficult to defend before an objection–from-eugenics. In this section, I identify two new conceptual distinctions and suggest that genomics as a tool for understanding individuals and encouraging self-understanding is the most defensible pursuit of genomics research out of the three suggested.
Advances in genomic technologies have allowed for the development of direct-to-consumer genetic tests. Companies such as 23andMe or AncestryDNA promise their customers that, in exchange for a swab of their mouth or a hair on their head, they get to know their own histories, the journeys mapped in their genetic blueprint. Knowing one’s own “heritage” and “ethnicity” is the key selling point. But profiting off biologically grounded notions of race is the real name of the game (see Blell & Hunter, 2019). But direct-to-consumer genetic tests show us the value we place in knowing about ourselves, even if it is at a genetic level very few of us really understand. Unjust assumptions must be clearly and actively dispelled by such firms if they want to avoid the objection-from-eugenics.
It is natural to want to know more about ourselves. We are a self-reflexive creature. Our ability to conceive of ourselves in a complex world is one to be celebrated. And this celebration can be attained through genomics research. This is the strongest reason why I am a participant of the 100,000 Genomes Project. The prospect of knowing precisely what genetic interrelations correlate with my rare condition provoke a sense of excitement — as if a dark, hidden place within me could finally see some light.
I also find excitement in academic literature (e.g.: Giunti et al., 2020) that, despite going well beyond anything I can understand half the time, helps me see that I am not alone. Simply being aware that my condition, in its many manifestations, is shared by others in the world makes me feel understood.
Finally, the less self-absorbed reason to be a part of something like the 100,000 Genomes Project is the prospect of helping others. With all the caveats outlined in the previous sections, I believe that the ability to diagnose my condition in others — through the analysis of their genetic make-up— can help them implement the measures that enable them to flourish in a way that is consistent with their limitations and strengths. Now, one of the caveats is worth reiterating here, as I might be misunderstood.
I am not suggesting that genetic testing to improve self-understanding and the identification of genetic conditions should be employed to identify “disabilities” and eliminate those from society’s genetic pool. This would be a dangerous development considering the looming shadow of eugenics, but also the fuzziness of the concept of “disability”. Recall the concept of normativity as the set of social structures that shape what it means to be “normal”. This reflects the social model of disability, whereby one’s ability is not hindered by one’s genetic make-up, but the environment they live in. For example, I might be considered disabled if I am expected to write an exam with a pen and paper (I can assure you, it won’t work). It is interacting with certain surroundings what renders me “disabled”.
The social model of disability helps identify the limitations of genomics research to screen for “disabilities”. Conversely, we cannot take the model to the extreme of reducing “disability” an entirely social construct. To see that “disability” is not just a social construct, consider that, in a perfectly just world without racism, ableism, misogyny and so on, a person with chronic pain continues to have chronic pain (Wendell, 1996); paraphrased by Reynolds in What’s Left of Phi, 2021). The “social construct” of “disability” does not detract from phenomena at the genetic level affecting phenomena at the phenotypic level. Returning to my own case, my genetic make-up will lead to me having bad coordination regardless of whether a teacher hands me a pen and paper to do an exam, or lets me use a computer. This relationship between genes and phenotypes, I would contend, is far too narrow an area for the word “disability” to come into play. This is why I have been speaking of my “condition”, implicitly conceived of as something linked to my particular genome.
Understanding that certain conditions are linked to specific genetic arrangements entails that genomics research allows for those who live with such conditions to flourish. With the benefit of hindsight, I know that understanding my condition would have protected me from otherwise rather unhappy experiences. If the specific genetic code that manifests in my condition were to be discovered, my experiences could inform people with the same condition, as well as parents whose children are found to have my condition.
The sense in which self-understanding as a goal for genomics research does not stand atop the slippery slope of eugenics is that its findings are for the promotion of human flourishing. This is not to say that there is no risk to data such as mine being used by parents to avoid certain genetic conditions. Returning to the case of the genetic supermarket, we might find ourselves in a world where genomic research has its outputs used by individuals to determine what conditions to avoid in their children. Again, the use and sharing of genetic data are critical to provide a successful rebuttle of the objection-from-eugenics. The case of genomics research for the promotion of human flourishing points to a further constraint on its use.
The promotion of human flourishing as a principle for genomics-for-understanding mitigates against unjust assumptions about human life. Consider my case once more. If my genomic sequence were linked to my lived experiences in a way that could inform parents whose children were found to share the genetic arrangements that are unique to my case, the parents could learn what measures to put in place to best ensure their child’s well-being. If genomic sequencing became a more standard medical practice, “rare diseases” could become easier to identify and relevant information shared more promptly with patience who have similar conditions. On this note, genomics research must be in continuous dialogue with clinicians and other decision-makers in medical health services so that patient data and research findings are shared in a way that promotes human flourishing.
Measures for Genomics Research
I have suggested three pernicious beliefs held within the pseudoscientific field of eugenics. Three broad motivations for genomics research projects were then introduced, along with how objections-from-eugenics may arise. In each case, I suggested measures to mitigate against such objections. The measures I suggest for genomics research to be straightforwardly defensible before an objection-from-eugenics are as follows:
- Language must be used with care, transparently employing technical definitions where terms (such as “healthy”, “normal” and “disabled”) can be interpreted in many and even detrimental ways.
- Data governance structures must be implemented to protect genomic data — which are inherently personal — from being used in ways that are not in line with the values of research participants; this means limiting access to genomic data and not making them “open by default”.
- Regulation must be promoted to ensure access to genetic technologies is prioritised for those with genetic conditions vis-à-vis the wealthiest in society.
- Scientific claims made on the basis of genomics research must be kept within the realm of genotypes when research does not involve expertise from broader medical and social sciences.
- Genomics research must be conducted closely with its participants, their clinicians and the broader medical community to ensure that findings are adequately communicated and of use for the flourishing of individuals with genetic conditions around the world.
These measures follow from the above analysis and are in no way exhaustive, nor do they ensure that genomics research is conducted to everybody’s moral standards.
Note that this is not an ethics framework for genomics research, but just a set of measures to better sever the tie between genomics and eugenics.
The measures’ non-exhaustiveness does not detract from their necessity. An objection-from-eugenics can be made before genomics research that does not follow any one of these standards. Nonetheless, this does not mean such an objection cannot be adequately refuted. The context of each genomics research project will raise particulars beyond the scope of any abstract analysis like the one I have provided.
