Operating Guide: Fixing Disease in Parkinson’s Research

Liora O’Donnell Goldensher // The emergence of the new genomic science in the 1990s and early 2000s raised alarm among many sociologists, who highlighted the frequency with which the “genetics of difference” framed both questions and findings in terms of racial difference.  This framing, many argued, was nothing new.  Genomics had not “resurrected race in biomedicine” but rather was the latest face of a persistent attempt by some scientists to find biological means by which to fix the unruly category of race (Fujimura, Duster, and Rajagopalan 2008: 644-5).  Biology as the stable, legible category through which to pin down race: it was, many argued, a familiar story. Commentators described the use of race in biomedical genetics as simultaneously risky and sloppy.  Using self-reported race and census designations as stand-in categories for embodied genetics, they argued, both misrepresented those categories as biological themselves and diverted attention from other clinically relevant information. “Environmental exposures, family histories, the stress of dealing with racism, access to and quality of care,” among other factors, were likely to go unexamined by both researchers and care providers who relied on “historically created racial categories” as proxies for genetic homogeneity (Braun et al 2007:1424).

These critiques are particularly relevant in light of the recent turn to “precision” or “personalized” medicine.  Though the concept might not in principle demand it, precision medicine approaches often lean heavily on genetic information.  The Michael J. Fox Foundation (MJFF), for instance, describes precision medicine as the tailoring of therapies for individuals “based on their genes, environment, and/or lifestyle” in materials that go on to suggest that “genetic mutations may be the basis for tailored treatments.”  MJFF’s focus is Parkinson’s Disease (PD), a neurodegenerative disease that has itself been distinctively difficult for researchers to pin down.  It is frequently associated with its effects on movement, but speech, mood, cognition, digestion, energy, and sleep also change with the onset of PD for many people.  Symptomology is vexingly varied in PD: some experience all four of its “cardinal” symptoms of resting tremors, slow movement or bradykinesia, balance difficulty, and rigidity.  For others, a tremor never develops.  The overall progress of the disease unfolds at extremely different rates for different patients, and some symptoms, such as mood disorders and cognitive impairment, make major changes to the lives of some patients but do not appear at all for others. As actor Michael J. Fox, founder of MJFF, is often quoted as saying, “Everyone gets their own version of Parkinson’s Disease.  Unfortunately none comes with operating guide.”

Indeed, since the 1980s, some researchers have even questioned the convention of referring to PD as a single disease. They note that distinguishing disease from syndrome depends centrally on the identification of etiology, a missing link in the case of PD (see Calne 1989, 2000).  The exact causes of its central process—the loss of cells in various parts of the brain, notably the region responsible for producing the key neurotransmitter dopamine—remain unknown.  The disease itself is the object that begs fixity.  In this context, the promise of precision medicine is particularly resonant.  A standardized course of care isn’t terribly appealing for those who experience an illness whose calling card is heterogeneity and inconsistent presentation.  As in the case of race, the vexing object of PD has attracted the attention of researchers in genetics—so much so that research into genetic factors and therapies for carriers of the genetic mutations that have been identified as affecting Parkinson’s risk appears as nearly synonymous with precision medicine for PD.

The turn to genetics may have originated as a way to fix the category of illness in the case of PD, but ethnicity emerged as a key vehicle in recruiting research participants.  Ashkenazi Jews have been identified by researchers as a key population of interest with respect to two of the three genetic mutations associated with Parkinson’s Disease.  Along with funders such as MJFF, research teams have leaned heavily on self-identified ancestry in recruitment.  Though these efforts began with brick-and-mortar institutions, such as synagogues, by 2015 MJFF had turned to Facebook.  The foundation ran ads targeting users who lived near one of the study sites and who had expressed interest in “Jewish topics” on the platform.  “You may be eligible to participate in a clinical study investigating the link between Ashkenazi ancestry and Parkinson’s,” the copy read.  Online behavior indicating interest in anything from Jewish communal events to Jewish cultures or religious practice had become a proxy—and a loose one indeed, given the fact that not all Jews are Ashkenazi or share Eastern European ancestry—for “genetic ancestry.”

The strategy was hailed as a major success.  “Need to find people from a specific ethnic group to fill out a genetics-focused clinical trial?  You might want to try advertising on Facebook,” one report began, though the study to which participants were recruited was observational.  The report heralded a cost savings of 96% over traditional recruitment methods and a 33% increase in enrolling volunteers (see MedCityNews), noting that the foundation intended to establish an office of digital marketing to extend the strategy in the future.

When getting precise, in precision medicine, comes to mean turning to genetic rather than environmental factors, fundamentally social ways of thinking of those factors become foundational to research design. Ethnicity needs to appear as fixed in order to use it to pin down biology.  Because both remain unstable, disease and ethnicity become necessary points of justification for each other in recruitment and research design, seeking stability in one in order to fix the other.  Parkinson’s Disease patients undoubtedly deserve an “operating guide” to an unwieldy disease.  And research into particular genetic mutations associated with the development of Parkinson’s Disease may well hold a key to identifying disease etiology and treatment.  But how might research design or recruitment shift if they refused to rely on a fixed idea of ethnicity?

 

Braun, L., Fausto-Sterling, A., Fullwiley, D., Hammonds, E. M., Nelson, A., Quivers, W., … Shields, A. E. (2007). Racial Categories in Medical Practice: How Useful Are They? PLOS Medicine, 4(9), e271.

Calne, D. B. (1989). Is “Parkinson’s disease” one disease? Journal of Neurology, Neurosurgery & Psychiatry, 52(Suppl), 18–21.

Calne, D. B. (2000). Parkinson’s disease is not one disease. Parkinsonism & Related Disorders, 7(1), 3–7.

Fujimura, J. H., Duster, T., & Rajagopalan, R. (2008). Introduction: Race, Genetics, and Disease: Questions of Evidence, Matters of Consequence. Social Studies of Science, 38(5), 643–656.

Podcast: Parkinson’s Personalized Medicine. (n.d.). Retrieved November 4, 2018, from https://www.michaeljfox.org/foundation/news-detail.php?podcast-parkinson-personalized-medicine

Versel, N. (2016, September 21). Targeted Facebook ads slash recruitment costs for Michael J. Fox Foundation. Retrieved November 4, 2018, from https://medcitynews.com/2016/09/facebook-recruitment-michael-j-fox/

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