The Distractions and Implications of Biomedical Promise

Gene therapy has been on the horizon as the next great medical breakthrough in curing disease for half a century now. Every time a new genetic mapping or engineering approach is developed, the promise of gene therapy seems to finally be within reach. This was the case with human gene mapping in the 1970s, recombinant DNA in the 1980s, the Human Genome Project in the 1990s, whole genome analysis after 2000, and most recently with CRISPR gene editing. Will CRISPR be the innovation that finally makes gene therapy a widespread clinical reality? As a historian, I am hesitant to predict the future. However, I can say that the promise for gene therapy over the past 50 years did help to encourage and fund the mapping of thousands of apparent disease causing mutations. While gene therapy has only seen limited and targeted success (and multiple tragic failures), the ongoing sense of potential for it resulted in the building of an infrastructure for genetic diagnosis, which has been widely put to use for prenatal diagnosis and prevention.

In Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics, I trace the piecemeal development of this infrastructure. It was built based on the results of thousands of studies on individual disorders, which sought to improve understanding, diagnosis, and treatment. In the first decade of the 21^st century, this vast and still growing infrastructure of genetic associations was drawn upon for the interpretation of new whole genome analysis tests, such as DNA microarray. When offered in the prenatal context, microarray could identify an enormous number of potential mutations, and geneticists relied on the existing infrastructure to make sense of them. Not infrequently, the implications of these prenatal findings were uncertain, leaving parents with a difficult and unnerving decision to make about continuing a pregnancy.

Observers of biomedicine often focus on the newest diagnostic technique, and consider how it might change everything. However, in doing so, they overlook an important aspect of biomedical diagnosis and management: the ongoing construction of diseases. When I first started working on this project, I was drawn to the history of chorionic villus sampling (CVS), which in the 1980s was seen as a revolutionary new prenatal diagnostic technique. Many observers believed that CVS would quickly replace the existing gold standard, amniocentesis, because it could be done much earlier in pregnancy. In 2009 however, as I began my study, CVS uptake was still lagging behind amniocentesis in a marketplace that had since been transformed by even more options.

While the uptake of diagnostic techniques like CVS was an interesting story, the more compelling issues in genetic and prenatal diagnosis were to be found in how conditions were delineated and then made genetic and diagnosable prenatally. As a historian, I was not primarily interested in what techniques might lead to the prevention or cure of diseases, but rather in how conditions were constructed as genetic over many decades. In studying this, my focus was on how the future promise of gene therapy had led to the construction of an infrastructure that was ultimately put to use by parents, physicians, and diagnostic providers for eugenic prevention.

Andrew J. Hogan is an assistant professor in the Department of History at Creighton University. He is the author of Life Histories of Genetic Disease: Patterns and Prevention in Postwar Medical Genetics