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Biomedical Research Presentation
Biomedical research remains preoccupied with genetics. Doctors seek
genes, or even just genetic markers, associated with disease susceptibility or
treatment response. Cardiac surgeons have even described gene expression
patterns associated with risk of cognitive dysfunction after cardiac surgery, as if the
patient's genetic substrate, and not the trauma of the surgery itself, were
responsible for the bad outcome. Genetic enthusiasts promise that genetic
explanations and genetic solutions for medical and social problems are nearly
within reach.
The preoccupation with genetics has even spilled over into the social
sciences. With research funds relatively abundant for studies of the ethical, legal,
and social implications of genetics, many scholars in science studies have turned to
genetics. While these studies have often been quite critical of genetics, their
ubiquity reinforces beliefs about the importance of genetics.
The focus on genetics skews research and practice in many ways. I have
already described one case: the explanations given for health inequalities between
populations (AJPH 96;2006:2122-2134). Researchers know much more about the
genetic determinants of disease susceptibility than they do about other possible
causes. Genetic explanations have been proposed for nearly every health
inequality experienced by African Americans or American Indians -- from
tuberculosis and syphilis in the 1930s to alcoholism, heart disease, and diabetes
today. Taken as a whole, however, this literature would seem to suggest that
Africans and Indians have a genetic susceptibility to every class of human disease,
a conclusion as troubling as it is implausible. Other factors that might more
productively explain susceptibility to disease have received less study and, as a
result, less space in policy discussions.
Personalized medicine provides another interesting case. Doctors worked
to personalize diagnosis and treatment from ancient Greece through the nineteenth
century. The advent of laboratory medicine led to the emergence of new concepts
of specific etiology and standardized therapy: every patient with the same diagnosis
could receive the same treatment. Over the course of the twentieth century,
however, it became clear that different individuals actually do respond differently
to treatments. This inter-individual variability in treatment response can be
explained in many ways, from genetics to environments or patients' pill-taking
behavior. Attention, not surprisingly, has focused on a single explanation:
pharmacogenetics. Physicians can now test patients for the presence of many drug
metabolizing variants and attempt to predict an optimized treatment regimen. Is
this wise? Are health care resources better spent on expensive gene tests or on
supportive care that might improve a patient's adherence to prescribed therapies?
Medical decisions, unfortunately, often seem motivated by what might be
profitable or reimbursable, and not by what is actually useful.
Social scientists must respond to the genetic preoccupation with something
other than further critique. Countless insightful deconstructions of genetics already
exist, but none have had the desired effect. Social scientists must emerge from
their "ELSI ghetto" and find better ways to engage with biomedical research and
researchers. Only by broadening the scope of research will we foster future
knowledge that will guide policy towards broader, more effective, and more
equitable interventions.
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