In the Journals

Special Issue: Alzheimer’s Disease as Post-genomic Science

New Genetics & Society has released an open-access special issue titled, “Alzheimer’s disease as post-genomic science.” Edited by Richard Milne and Joanna Latimer, this special issue aims to unpack the “problematic relationship between the bench and the bedside.”

Alzheimer’s disease and the development of a post-genomic science (open access)
Richard Milne, Joanna Latimer

Alzheimer’s disease has been a reference point for the promise and potential of genetic and genomic science from 1980s molecular biology through the sequencing of the human genome to ongoing efforts to identify new disease-associated loci and polygenic risk scores. Alzheimer’s disease research speaks to the potential of biomedicine to address fundamental problems of human existence, such as ageing and loss of personhood. Yet the relationship between “bench and bedside” has been rocky.

A decade after one of the headline findings of Alzheimer’s disease genetics, the identification of the ApoE e4 risk allele, Lock and colleagues argued that “no findings that derive from knowledge about the genetics of [Alzheimer’s disease] have as yet resulted in clear advances of any kind in the prevention or treatment of the disease” (Lock, Lloyd, and Prest 2006, 130). In subsequent years, new therapies, disease models and technologies have repeatedly run aground on the challenges presented by a complex, late-onset condition, while their pursuit prompts concern that attention is being deflected from care and social support in the context of austerity and diminishing collective responses to care in later life.

Alzheimer’s disease research, as with other areas of postgenomic science, continues to “promise big” (Richardson and Stevens 2015, 239). However, encounters between Alzheimer’s, genetics and postgenomic biomedicine over the last decades have resulted in consequential changes in how knowledge about the condition is generated, how the relationship between dementia and ageing is understood and how diagnosis and care are conceptualized and practice.

The papers in this special issue chart key dimensions of this changing landscape of Alzheimer’s disease, including the problematic relationship between the bench and the bedside in the contemporary moment, and explore the various individual, scientific and societal futures that each dimension implies. They build on papers and conversations at a workshop at the Brocher Foundation in 2016 on “The redefinition of Alzheimer’s disease and its social and ethical consequences.”

Markers of biology and “being”: imaginaries of deterioration and the biological redefinition of Alzheimer’s disease (open access)
Julia Swallow

The Alzheimer’s disease (AD) research landscape is dominated by efforts to predict and prevent the condition. In clinical practice, it is difficult to establish normal aging from pathological cognitive deterioration and “imaginaries of deterioration” tied to “loss of self” take on a material form and impact assessment and diagnostic practice. Drawing on qualitative data gathered across a memory service in the UK, this paper captures practitioners’ reflections on the utility and potential impact of prediction and earlier detection. Practitioners maintain that this biological framing may reinforce uncertainties associated with sociocultural depictions of the condition and reify normative values concerning cognition and age; provoking questions concerning what kinds of values are produced by, and aligned with, bioscientific agendas. Overall, there emerges a paradox entangled in biologically redefining AD: purported precision and prediction on the one hand and increasing uncertainty on the other entwined with sociocultural imaginings of a future with AD.

The turn towards prevention – moral narratives and the vascularization of Alzheimer’s disease (open access)
Annette Leibing

Recently, a major turning point in the field of dementia research has occurred: serious and independent studies have shown that there are risk factors that can be modified in ways that reduce dementia risk. However, the reality behind this hopeful message is much more complex than simply translating it into concrete public health prescriptions regarding medications and lifestyle changes. The objective of this article is twofold: 1. In line with observations from other authors in the field of critical public health, the recent turn in dementia epistemologies will be described as a fallacy when conceived as individualized behavioral recommendations; 2. The profound change in the notion of risk for Alzheimer’s disease (AD) – now defined using nearly identical risk factors as Vascular dementia (“vascularization of AD”) – has also had an important impact on whether people are classified as “good citizens.” After a short description of recent studies about Alzheimer’s disease and the new risk factors associated with it, three interrelated historical changes are described as being constitutive of the “new dementia.” Based on fieldwork in geriatrics in Brazil, one example will be given that illustrates how recent changes in understanding dementia result in value-laden models which, as a consequence, are sorting out people.

Planning later life with dementia: comparing family caregivers’ perspectives on biomarkers with laypersons’ attitudes towards genetic testing of dementia prediction (open access)
Zümrüt Alpinar-Sencan, Leopold Lohmeyer, Silke Schicktanz

Predictive medicine presents opportunities to consider later life under conditions of illness, such as dementia. This paper examines how family caregivers (N = 27) assess the opportunity of prediction and early diagnosis of dementia for oneself based on their particular experience. Furthermore, it compares their attitudes with laypersons’ attitudes (N = 43) towards genetic testing of APOE. By this, we elaborate how much personal experience impacts anticipation and affects, but also moral attitudes towards predictive medicine. Differences in our settings do not allow for direct comparison, so our analysis focuses on multiple similarities in the assessments of predictive (non-genetic vs. genetic) testing. Groups’ reasoning showed also differences influenced mainly by personal experience. Family caregivers addressed more responsibility towards family and had more hopes into medical treatments. To cope with the disease, they expressed expectations to start with medicine and care decisions as early as possible. Laypersons, however, stressed self-determination more and expressed worries about the influence of the pharmaceutical industry by referring to unnecessary medication and, implicitly, the medicalization of aging.

Biomarkers and brains: situating dementia in the laboratory and in the memory clinic (open access)
Joanna Latimer, Alexandra Hillman

This paper provides a comparison of how genetic biomarkers are used (or not) in three contexts: clinic-based diagnostic work with people; lab-based research on mice and their marbles; and lab-based research on thrashing nematodes. For all the worldwide drive to find biomarkers that can be used in the detection of early, presymptomatic dementia, there is little research on how or when the association between biomarkers and a definitive disease are being made to “hold.” First, we show the disjuncture between the animal modeling that underpins laboratory attempts to stabilize genetic biomarkers and the paradigms that inform clinical diagnosis. Secondly, we develop this theme to show how in our third site, an epigenetics “worm” laboratory, neurodegenerative changes are explored as located in specific gene-environment interactions over time. We speculate whether such an enactment brings us closer to a notion of “situated biology,” to undercut possibilities of making genetic biomarkers of preclinical dementia hold.

The rare and the common: scale and the genetic imaginary in Alzheimer’s disease drug development (open access)
Richard Milne

In this paper I examine how the promissory value of genetics is constituted through processes of scale and scaling, focussing on the relationship between “rare” and “common” forms of disease. I highlight the bodies and spaces involved in the production of post-genomic knowledge and technologies of Alzheimer’s disease and the development of new disease-modifying drugs. I focus on the example of the development of a monoclonal antibody therapy for Alzheimer’s disease. I argue that the process of therapeutic innovation, from genetic studies and animal models to phase III clinical trials, reflects the persistent importance of a genetic imaginary and a mutually constitutive relationship between the rare and the common in in shaping visions of Alzheimer’s disease medicine. Approaching this relationship as a question of scale, I suggest the importance of attending to how and where genomic knowledge is “scaled” or proves resistant to scaling.

By Megh Marathe

Megh Marathe is a PhD candidate at the University of Michigan studying the clinical diagnosis and lived experience of epilepsy. Megh conducts ethnographic fieldwork at a large midwestern hospital, observing trainee neurologists learn to diagnose seizures using electroencephalography (EEG). As a critical disability and science studies scholar ready to critique the neurologists’ every move, Megh found careful, hard-working, and highly-trained doctors working individually towards “zero seizures, zero side effects” and as a discipline “towards a world without epilepsy” in hopeful service of patient-centered care (goals that are often shared by people with epilepsy). As a person with epilepsy trained in computer science and engineering, however, the EEG itself — a device with solely confirmatory diagnostic power, porous to artifacts of social and environmental origin, and originally developed to detect parapsychological phenomena, but which instead helped strengthen the biological pathology of epilepsy — and its active use and infrastructural status in clinical neurology (and beyond) both fascinates and frightens Megh. Their work has been presented at annual meetings of the Society for the Social Studies of Science (4S), Society for Disability Studies, Canadian Disability Studies Association, and Nordic Network on Disability Research; and published in social science and human-computer interaction venues. Megh is supported by a dissertation grant from Microsoft Research and a public scholarship grant from the University of Michigan. Twitter: @marathe_megh