PKU: Responding to genetic conditions requires social infrastructure(s)
The man of the moment [was] J. Craig Venter, Ph.D., whose pioneering work to sequence the human genome — our essential code for life — had whetted public appetite for medical miracles in the diagnosis, treatment and prevention of even the most complex of common diseases. ‘Imagine a world where families leave the hospital with their newborns and take their baby’s complete genetic profile with them on a CD-ROM,’ Venter told his audience. ‘And imagine a world where your physician has as part of your medical record your genetic code, which can be used to determine, for example, your risk profile for side effects from drugs or other medical treatments. These might be possible in a genomics-based medical system in the near future.’ (Massoglia 2003)
‘Imagine a world…’ If the case of phenylketonuria (PKU) is any guide to our imagination, significant complexities should be expected to arise once neonatal diagnosis and advice about protective measures become widespread. PKU is a condition that many teachers about biology in its social context invoke to demonstrate that genetic does not mean unchangeable. Until the 1960s people with the PKU gene always suffered severe mental retardation. But now the brain damage can be averted through detection of newborns with high levels of the amino acid phenylalanine followed by a special phenylalanine-free diet. Yet, as Diane Paul’s ( 1998) history of PKU screening describes, the certainty of severe retardation has been replaced by a chronic disease with a new set of problems. Screening of newborns became routine quite rapidly during the 1960s and 70s, but there remains an ongoing struggle in the USA to secure health insurance coverage for the special diet and to enlist family and peers to support PKU individuals staying on that diet through adolescence and into adulthood. For women who do not maintain the diet well and become pregnant, high levels of phenylalanine adversely affect the development of their non-PKU fetuses. This so-called maternal PKU is a public health concern that did not previously exist. In short, a more complex picture of development in a social environment is needed for anyone to make use of the knowledge that the fate of individuals with the PKU gene is not determined at birth.
As we move towards the imagined world of abundant genetic information, we can anticipate debate about who is responsible/who is to blame if a baby is diagnosed, protective measures are not taken or are not sustained, and the child becomes a retarded adult or mother of a child with maternal PKU. Scientists or interpreters of science who want to contribute to improving the lives of people affected by PKU will need to consider where we are prepared to get involved. Would the best point of engagement be around reduction in false positives or negatives, diagnosis of variability in effects of exposure, personal motivation and understanding of people with some mental deficits, support groups for individuals and families, insurance coverage for the special diet and for counseling, paid family leave, or…? In summary, a diversity of engagements are opened up—or, we might say, a diversity of interpretations of the genetic information are possible—depending on the scaffolding that different people can assemble to build or adjust the relevant social infrastructure…
Another excerpt from P. Taylor, “Infrastructure and Scaffolding: Interpretation and Change of Research Involving Human Genetic Information,” Science as Culture, 18(4):435-459, 2009
Massoglia, M. P. (2003). Genomics and ‘The Promise of Tomorrow’. Visions (Wake Forest University School of Medicine) Winter/Spring.
Paul, D. (1998). The history of newborn phenylketonuria screening in the U.S. Promoting Safe and Effective Genetic Testing in the United States. N. A. Holtzman and M. S. Watson. (Baltimore: Johns Hopkins University Press), 137-160.