Autism, genetics and epigenetics: why the lived experience matters in research

Popular scientific publications regularly have articles with headlines suggesting that 'autism is hereditary' or that the 'risk for developing autism' is mostly caused by genetics (see BioNews 920). Consequently, there is the suggestion that associating certain genes with certain subtypes of autism will pave the way for future medicines (see BioNews 892).

Indeed, as the key diagnosis of the late 20th and early 21st centuries, autism has for long been perceived as a neurodevelopmental disorder that one has from birth and that is highly familial and genetic in nature. Although it is true that genes play a significant role in its development, the vast majority of genetic variations that may explain autism are risk factors, meaning that these variations also occur in the non-diagnosed population, and that other factors influence autism's development. As pointed out by Pellicano et al. in 2014, genetic research and its discourse is based on notions as 'truth' and 'certainty', but paradoxically and despite the significant levels of investment, autism research is noteworthy precisely because of its uncertainty and indeterminacy.

Examining the genealogy of autism research and diagnosis (Nadesan 2005, Waltz 2013; Verhoeff 2015), it is apparent how the field of genetic autism research and its definition of autism as a purely organic disorder, can be seen as emerging as an explicit disavowal of the psychoanalytic concept of autism as rooted in the mother-child relationship.

In other words: genetic research is exculpating the 'refrigerator mother' – the discredited mid-20th century hypothesis that inadequate parenting resulted in a child developing autism. But what we tend to forget, however, is that genetic research in itself also changes what we come to understand as autism and vice versa. Moreover, in testimonials of autistic people, we read that a simplistic genetic model does not give an answer to the question of what it means to live with autism. Indeed, in genetic studies, and many autism studies in general, there is little to no space for questions about experiences - the question about why a certain behaviour happens is the most important one, while the question about how this ties in with a certain experience of the world is often absent.

For example, we attended the International Autism Research Workshop in Ghent, Belgium in March 2016, where the latest knockout mouse for autism was presented. This mouse showed digging behaviour that was considered excessive, and hence autistic. However, mouse models do not allow a further investigation as to the 'why' of the behaviour, if we do not accept a simple 'it is in her genes' as answer. Furthermore, testimonies of autistic people are suggesting that we don't need one single explanation for autism and that it should be characterised as a condition of 'the idiosyncratic brain'. This, of course, ties in with the debate of autistic heterogeneity. No one thing unites all individuals with autism and there may be no one thing that explains all symptoms.

The omnipresence of the hunt for the autism genes also mirrors a certain ideology; the ideology that our very nature as human beings is shaped by our genetic material and the structure and function of our brains. Indeed, many sociological studies have pointed out that genetics and neuro(bio)logy are playing a crucial role in our thinking about individuals and society. Also in philosophy, the discussion in how far we 'are' our brains or our genes is still ongoing.

However, biologists and philosophers of biology alike have known for some time that the deterministic view on genes is wrong (Griffiths, 2011; Jablonka & Lamb, 2005). For instance, the emerging field of epigenetics investigates the mechanisms by which certain genes are switched on and off: mechanisms which are under the influence of the environment. From this field of study, a view on human nature emerges that positions human beings as far more dynamically connected with their physical and psychosocial environment as previously envisioned. Also in autism, epigenetic factors have been explored (see BioNews 702). This has relevance for how we conceive autism, and for the importance of including the experience of autistic people in research.

Epigenetics, in our view, is not a mere replacement of one explanatory model by another one. One does not want to bring back the 'mother blaming' of the 1960s and 1970s. Neither does one want to replace a simplistic single gene explanation of autism by a simplistic single environmental factor, such as, for instance, in the MMR (measles, mumps and rubella) vaccine controversy of the early 2000s. Ethicists and scientists alike should make sure that no black and white conclusions are drawn from epigenetics studies, and that this new field is not simply replacing one culprit (the autism gene) by another (the autism environmental pollutant). In fact, the more nuanced view of human biology that is suggested by epigenetics may help move the discussion from the search for causes and culprits to experiences and understanding.

Who we are and the problems we face are the result of complex interactions of our genetic disposition with our physical and psychosocial environment. As such, problems are never problems of the individual (Barad 2007). For autism, this may suggest a view that a genetic or neurological vulnerability, in combination with environmental factors (both physical as well as psychosocial) can cause the difficulties of autistic people, and that the search for causes solely in the individual itself is doomed to fail.

Epigenetics may introduce an approach to the biology of autism and neurological development that is not deterministic, but dynamic, that stresses context as well as interaction rather than individual dysfunctioning, and that could value lived experiences as integral part of research endeavours. As the French physician and philosopher Georges Canguilhem said: 'Life is experience'.