Diane B. PaulThe PKU Paradox: A Short History of a Genetic Disease (Johns Hopkins Biographies of Disease)

I found this fascinating as there is culturally, in the US, so little discussion about the history of PKU. As a midwife we really have learned only of its success and not of the challenges of the screening, the forces behind it, and the resulting problems of maternal PKU. I also find that those rooted in bioethics when looking at genetic screening have so much more to explore than a straight forward look on genetic screening for every newborn.

I thought I knew a bit about the history of PKU testing until I read this book. PKU is always upheld as THE success story of genetic testing: a disease with a simple diagnostic test in infants that leads to a fully effective dietary intervention that prevents brain damage. The truth is much more complicated, sobering, and interesting. Historian of science Diane Paul uses PKU as a window to explore the successes, failures, and cautionary tales of genetic testing in general. Her approach is highly original, humanistic, and accessible to any reader curious about the history of genetics in medicine. I pretty much read it at one sitting- it's that engrossing.

An interesting read that considers the advent of newborn testing through the lens of the fact that PKU was the first such test, and therefore there were many unintended consequences (good or bad). Fascinating and well written; a must for tackling the thorny topic of genetic bioethics.

As a PKU mom, I really enjoyed the story of PKU discovery and evaluation of the treatment. It is not exactly a page turner and it is very scientific.

This concise, thoroughly researched, and very well written book is an excellent exploration of a number of important aspects of modern biomedicine through a case study of phenylketonuria (PKU). The authors are the astute historian of eugenics Diane Paul and Jeffrey Brosco, a developmental pediatrician. The careful scholarship and thoughtful analysis reflects the complementary expertise of this team. PKU is a rare, recessive genetic disease causing mental retardation. PKU is usually presented as a triumph and model of biomedical research. Following the discovery of the biochemical defect, a dietary intervention was developed that markedly improved the natural history of PKU. This is often hailed as the first example of treating a genetic disease (though therapy for Wilson's disease would be a competitor for that distinction) and an exemplar of proceeding from understanding the basic defect to successful therapy. The authors show that this reductive version is correct but inadequate.Paul and Brosco nicely outline the history of the discovery of PKU, the somewhat fortuitous discovery of the biochemical defect, and the development of dietary therapy. This therapy markedly changed the dismal prognosis of PKU. This well told story is only the point of departure for Paul and Brosco's thoughtful analysis of several interestng aspects of the PKU story, a number of which are recurrent themes in modern biomedical research. The authors emphasize crucial role of lay organizations and lobbyists in PKU related research, therapy development and implementation, and the important role of parent advocates in mental retardation research generally. In addition to being a model for therapy development, PKU was the pioneering disease for neonatal disease screening. Paul and Brosco use the PKU example to explore a number of the important problems and ambiguities in neonatal screening. Similarly, while PKU is often used as a counter-example to eugenics, the authors show that the story is considerably more complicated and ambiguous; eugenic issues were often raised by PKU researchers. There is a short and very interesting section of the relationship between modern medical genetics and eugenics that is a very useful corrective to the usual view that modern medical genetics fled from eugenics.In what I think is a particularly good analysis and discussion, Paul and Brosco discuss the way in which PKU is an example of the qualified success of many modern therapies. Dietary therapy for PKU is not a "cure" in the strict sense. While the originators of dietary therapy envisioned time limited treatment, best results are obtained with prolonged treatment and this form of dietary therapy is relatively difficult to maintain. Nor does PKU treatment produce "normal" results. The survival and relative normalcy of treated PKU children also resulted in the difficult problem of maternal PKU. In many ways, this is a very good example of a common experience in modern medicine; the transformation of a previously untreatable problem into a chronic disease requiring ongoing and often complex management.Since we're now well into a period where genomics will play an increasing role in health care, PKU is a particularly important and useful example because many of the complex issues encountered in the history of PKU are recurring with other genetic diseases. Problems related to screening, treatment, and eugenics are and will continue to emerge repeatedly. As Paul and Brosco remark, the history of PKU doesn't offer any easy lessons, but this story is an excellent platform for discussion of many important issues.

in depth presentation of the people and science behind the governmental mandates for newborn screening for metabolic diseases. it discusses the financial challenges of getting the needed protein formula as well.

My daughter has PKU, so I was very intigued by this book. It is not something I would recommend for a new parent, as it is obviously doesn't give any practical advice. But it gives so much more. Insight to a little known but very important metabolic disease - what was is like to live with a (seemingliy) uncurable diesase, about ther persons who tried to resolve its medical mistery and the whole social and medical background of it. Very interesting, cleverly written, fantastic book if you are interested in the history of medicine. I just LOVED it!