The Pku Paradox

How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics? In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox. PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting. In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

How has prenatal testing, once offered only for high-risk pregnancies, become standard medical care for pregnant women today? In the 1960s, thanks to the development of prenatal diagnosis, medicine found a new object of study: the living fetus. At first, prenatal testing was proposed only to women at a high risk of giving birth to an impaired child. But in the following decades, such testing has become routine. In Imperfect Pregnancies, Ilana Löwy argues that the generalization of prenatal diagnosis has radically changed the experience of pregnancy for tens of millions of women worldwide. Although most women are reassured that their future child is developing well, others face a stressful period of waiting for results, uncertain prognosis, and difficult decisions. Löwy follows the rise of biomedical technologies that made prenatal diagnosis possible and investigates the institutional, sociocultural, economic, legal, and political consequences of their widespread diffusion. Because prenatal diagnosis is linked to the contentious issue of selective termination of pregnancy for a fetal anomaly, debates on this topic have largely centered on the rejection of human imperfection and the notion that we are now perched on a slippery slope that will lead to new eugenics. Imperfect Pregnancies tells a more complicated story, emphasizing that there is no single standardized way to scrutinize the fetus, but there are a great number of historically conditioned and situated approaches. This book will interest students, scholars, health professionals, administrators, and activists interested in issues surrounding new medical technologies, screening, risk management, pregnancy, disability, and the history and social politics of women’s bodies.

Philosophy of Molecular Medicine: Foundational Issues in Theory and Practice aims at a systematic investigation of a number of foundational issues in the field of molecular medicine. The volume is organized around four broad modules focusing, respectively, on the following key aspects: What are the nature, scope, and limits of molecular medicine? How does it provide explanations? How does it represent and model phenomena of interest? How does it infer new knowledge from data and experiments? The essays collected here, authored by prominent scientists and philosophers of science, focus on a handful of mainstream topics in the philosophical literature, such as causation, explanation, modeling, and scientific inference. These previously unpublished contributions shed new light on these traditional topics by integrating them with problems, methods, and results from three prominent areas of contemporary biomedical science: basic research, translational and clinical research, and clinical practice.

This book reconstructs the early circulation of penicillin in Spain, a country exhausted by civil war (1936–1939), and oppressed by Franco’s dictatorship. Embedded in the post-war recovery, penicillin’s voyages through time and across geographies – professional, political and social – were both material and symbolic. This powerful antimicrobial captivated the imagination of the general public, medical practice, science and industry, creating high expectations among patients, who at times experienced little or no effect. Penicillin’s lack of efficacy against some microbes fueled the search for new wonder drugs and sustained a decades-long research agenda built on the post-war concept of development through scientific and technological achievements. This historical reconstruction of the social life of penicillin between the 1940s and 1980s – through the dictatorship to democratic transition – explores political, public, medical, experimental and gender issues, and the rise of antibiotic resistance.

Genomics and Society; Ethical, Legal-Cultural, and Socioeconomic Implications is the first book to address the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011. The work addresses fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system. Of particular interest to healthcare practitioners, bioethicists, and health economists, and of tangential interest to the gamut of applied social scientists investigating the societal impact of new medical paradigms, the work describes a myriad of issues around consent, confidentiality, rights, patenting, regulation, and legality in the new era of genomic medicine. Addresses the vast and thorny web of ELSI topics identified as core priorities of the NHGRI in 2011 Presents the core fundamental issues of biosociety and bioeconomy as the revolution in biology moves from research lab to healthcare system Describes a myriad of issues around consent, including confidentiality, rights, patenting, regulation, and more

Drawing on ethnographic studies of the lived experiences of people with rare diseases, this volume critically examines rare, chronic diseases in the context of care, kinship, and technologies, providing in-depth analyses of local worlds that usually remain at the peripheries of medical anthropological inquiry.

PATIENT CENTRIC BLOOD SAMPLING AND QUANTITATIVE ANALYSIS Authoritative resource providing a complete overview of patient centric blood sampling, as well as its benefits and challenges Patient Centric Blood Sampling and Quantitative Analysis focuses on the growing interest in alternative means to standard phlebotomy and analytical workflows for the collection and analysis of high-quality human biological samples for the quantitative determination of circulating drugs, their metabolites, and endogenous substances for clinical trials, routine healthcare and neonatal screening. The book clearly explains the benefits and constraints of having patients collect small volumes of blood in locations outside of a clinic (e.g at home), including: patient convenience; less invasive procedures; increased frequency of sampling; applicability to collecting samples from the young, elderly, and those in remote locations; greater frequency; and lower cost per sample. Readers will learn about approaches for successfully implementing patient centric sampling workflows in a number of scenarios, including the clinical setting and in the analytical laboratory. Edited by four recognized experts in this field, with additional specialists in the discipline enlisted to write the component chapters, enabling greater depth and detail to be added and further raising the scientific standing of the publication, Patient Centric Blood Sampling and Quantitative Analysis includes information on: Basics of patient centric blood sampling and techniques and approaches that are available and in development for the collection and analysis of the samples Science behind patient centric blood sampling and its implications regarding human healthcare and wellbeing Application areas of patient centric sampling, including drug development, clinical chemistry/pathology, therapeutic drug monitoring, and more Practical approaches to successful implementation for existing and developing purposes and workflows, and case studies to support implementation within an organization Giving the reader a broad understanding of what patient centric sampling is and where it might be applied for existing and potential future areas, Patient Centric Blood Sampling and Quantitative Analysis is an essential resource on the subject for many different types of laboratories, areas of clinical research and healthcare, including those in pharmaceutical, clinical, and research functions.

The essays in this collection examine how human heredity was understood between the end of the First World War and the early 1970s. The contributors explore the interaction of science, medicine and society in determining how heredity was viewed across the world during the politically turbulent years of the twentieth century.