Genetic Disability, Experience and the Sorting Society

By Anna Middleton

People living with genetic conditions can offer unique insights into what life with genetic disease is really like, in a way that medical descriptions of the conditions cannot. However, their perspectives have, for the most part, been under-represented in discussions of the social and ethical implications of sequencing technologies.

Newborn baby

Are we heading towards a future where genetic conditions are ‘screened-out’? Who gets to decide which conditions are screened for? What would be the impacts for people already living with those conditions? Dr Felicity Boardman, associate professor at the University of Warwick, argues that the views and experiences of people with genetic conditions are vital when considering these questions.

Felicity joined us last month to present her research on the attitudes of people with genetic conditions towards screening. Here, she discusses her findings and the issues that society needs to face as we move into the era of genomic medicine.

[Illustration] Unravelling Disability's DNA Experience and Identity in a Genomic Age. Image credit: Laura Olivares Boldú
Image credit: Laura Olivares Boldú

By Dr Felicity Boardman, Associate Professor at Warwick University & Affiliate Member, Connecting Science at Wellcome Genome Campus Society and Ethics Research

In 2019, our genetic information is more accessible to us than ever before. The development of genomic sequencing technologies, now capable of determining the sequence of an entire human genome in less than an hour, is set to become increasingly integrated into NHS care. Through the use of genomic sequencing, medicine can now get personal: clinicians are able to use the technologies to predict a patient’s reaction to particular drugs as well as their propensity to develop future diseases. It is, however, the capacity of these technologies to also identify genetic conditions, and carriers of genetic diseases (i.e. people who do not have the condition, but who can potentially pass it on), that has the most concerning implications for our society. Here’s why.

It is possible that as sequencing technologies become a standard part of NHS care, finding out whether you are a carrier of genetic disease before you have children, or finding out if your foetus or newborn baby has a genetic disease so early in life will quickly become considered a typical and accepted part of perinatal care. For most people, this seems like a logical use of the technologies; a way to reduce human suffering and increase health and happiness for everyone concerned, the parents, the child concerned, and the wider family.

However, given the sheer volume of information that needs to be generated in order to sequence a genome, this information needs to be ‘sorted’ to determine what is relevant to the patient, and what can safely be ignored. How these decisions are made, however, is far from straightforward. For example, should people be told about gene mutations that may never affect their health, or may be mild, and should they know about conditions where there is no treatment available, and therefore nothing they can do?

[Illustration 2] Credit: Laura Olivares Boldu
Image credit: Laura Olivares Boldú

What is a ‘severe’ condition?

The concept of ‘disease severity’ is frequently used to help decide how to answer to these questions, with many clinicians agreeing that the ethical arguments to report back findings are strongest when they relate to conditions that are ‘severe’. However, this concept remains poorly defined and entirely subjective. What may be a ‘severe’ condition to one person may be considered an entirely liveable condition to another. Indeed, the way a person defines severity is so heavily intertwined with their life experiences and the social, cultural and economic context of their lives as to render a meaningful definition of it pretty much impossible.

[Illustration 3] Credit: Laura Olivares Boldu
Image credit: Laura Olivares Boldú

Living with a genetic condition

It is in helping unpick some of these complicated ideas about severity that the viewpoints of people actually living with these genetic diseases have a role to play. People living with genetic conditions can offer unique insights into what life with genetic disease is really like, in a way that medical descriptions of the conditions cannot. However, their perspectives have, for the most part, been under-represented in discussions of the social and ethical implications of sequencing technologies.

To address this, I designed a study that would investigate what people affected by different genetic conditions, and their family members, thought about advances in genomic medicine. Together with Research Fellow, Rachel Hale, I investigated the experiences of these families, what they thought a serious condition was, and whether they would apply that term to the condition they live with. In order to explore the impact of a range of conditions, I selected conditions that presented in contrasting ways, with different ages of onset, differences in terms of their treatability and differences in how the medical profession would view their ‘severity’. The conditions included were cystic fibrosis, thalassaemia, haemophilia, fragile x conditions and spinal muscular atrophy (SMA). Now, nearing the end of the project, we have spoken to over 100 people living with genetic disease (or with it in their family) and have received surveys from over 700 more. We have also compared these views to those of members of the general public who have read descriptions of the condition, but who have never actually encountered someone with it before.

Reality versus medical description

Our analysis of this data showed a complex picture of the ‘lived reality’ of genetic conditions. Some participants did view their condition as severe (particularly participants living with thalassaemia), whilst others were reluctant to describe the condition in these terms (particularly participants with type II SMA or haemophilia). However, whether a person described the condition as severe or not did not always match up with the way the medical profession would describe it. For example, people with type III SMA (one of the ‘least severe’ forms of the condition, which involves degenerative muscle weakness) were far more likely to see their condition as severe than people with type II SMA, a form of the condition that begins earlier and involves a higher degree of muscle weakness than type III. There appeared to be something about this process of deterioration and loss that was more important in determining how they viewed the whole experience than the degree of muscle weakness they actually ended up with (the part focused on by medical descriptions); but why was this?

[Illustration 4] "Findings from talking with affected families" Credit: Laura Olivares Boldu
Image credit: Laura Olivares Boldú

Personal identity

Another key finding of our study is the importance of personal identity in the experience of genetic conditions; the way we view ourselves, and the image of ourselves that we project onto the world. The participants who viewed their condition as being a part of themselves, an aspect of their lives that- for better or worse- had made them the person they were, were far more likely to express concerns that genomic sequencing technologies would prevent people like themselves from coming into the world. Conditions that were unexpected, degenerative or painful were particularly challenging to integrate into personal identity and hence more likely to be viewed negatively. It was these people, who viewed their condition negatively, who were most supportive of the condition being ‘screened out’ through genetic intervention. Those who had ‘internalised’ their condition, however, expressed concerns that people who know nothing about their condition and what it’s really like to live with, will soon be handed the power to decide whether someone with that same condition should be allowed to live. This fear seems to be in many ways justified, and was borne out by our data; people from the general public consistently expressed more negative views of SMA than those expressed by people who actually live with SMA (Boardman et al, 2017). Whilst we cannot yet know how these members of the public would have reacted if actually confronted with a pregnancy affected by SMA, these data suggest that considering genetic disease as anything but a negative experience might be particularly challenging for those who lack any prior experience with it.

The future of genomic medicine

So what does this all mean for genomic sequencing and the future of genomic medicine? As the lead researcher on this project, I think we need to take seriously the voices of people who live directly with conditions that could be targeted by sequencing. Medical descriptions and classifications of disease severity can never be the whole picture; using them alone to work out which diseases we want to eradicate from our society- and which we do not- entirely overlooks the complexity of how these conditions are actually experienced. The notion of disease severity has social and subjective dimensions to it, and our inattention to these factors could leave us uncritical of the way that our ideas of severity will inevitably shift and change over time. It is possible, for example, that these shifts could eventually blur the already hazy boundary between disease prevention, and human enhancement. It is only through careful reflection, and contributions from the full range of stakeholders with various kinds of expertise (including lived experience), that we can best approach what now appears to be the most pressing question facing genomic medicine today: what do we actually want to know?

Find out more

To see a video of Felicity’s talk or view the slides, please visit the Wellcome Genome Campus Society and Ethics Research website.

About the author

Dr. Felicity Boardman is an assistant professor in medicine ethics and society from Warwick Medical School. Her research career has focused on the social and ethical implications of genetic technologies, and in particular, their relationship to disabled people and their families. She is currently in receipt of a Wellcome Trust Investigator Award exploring attitudes towards pre-conception carrier screening.