Access to the Genome: The Challenge to Equality

By Maxwell J. Mehlman; Jeffrey R. Botkin | Go to book overview

2
The Human Genome Project

David, the "bubble boy," was born only a few years too soon. He was born without a functioning immune system, which left him at risk of fatal infections from viruses and bacteria that the rest of us shrug off with minor discomforts (and, perhaps, an antibiotic). David was born in the 1970s when we had only antibiotics, intensive care units, and elaborate plastic bubbles that offered him temporary protection but no effective treatment and certainly no cure. Survival came at the cost of painful isolation, although David was given fame and the sympathy of the world in his tragic struggle.

Through the 1970s and 1980s medical care became increasingly complex, yet David's physicians had little choice but to use what Lewis Thomas called "halfway technology," that is, technology based on an incomplete understanding of disease.1 This technology is halfway between a shaman's rattle and a sophisticated technology that flows from a fundamental understanding of biology. Halfway technologies are characterized by expensive and often burdensome interventions that are only partially effective—an accurate description of much of contemporary medical care. Kidney dialysis, coronary bypass surgery, and bone marrow transplantation are all complex and expensive forms of care, performed largely because we do not know enough to prevent or to provide truly effective treatments for the underlying conditions. In contrast, Lewis Thomas' example of a truly developed technology is vaccines. Based on a sufficient understanding of our immune system, these cheap and simple "shots" have drastically reduced the toll exacted by diseases that have plagued humans through history.

Current research in biology, and in genetics more specifically, promises to take us beyond halfway technology in the foreseeable future. David died in 1984, three years before Drs. French Anderson and Michael Blaese formally proposed the first attempt at gene therapy that could have targeted the rare disease that claimed David's life. On 14 September 1990 a four-year-old child, Ashanthi DeSilva, became the first human recipient of genetically engineered cells. Ashanthi has an inherited disorder termed "ADA deficiency," which

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Access to the Genome: The Challenge to Equality
Table of contents

Table of contents

  • Access to the Genome - The Challenge to Equality *
  • Contents v
  • Acknowledgments vii
  • 1: Introduction 1
  • 2: The Human Genome Project 7
  • 3: The Practical Applications of Human Genetic Technology 20
  • 4: The Impact of Genetic Technologies 39
  • 5: Access to Genetic Technologies 55
  • 6: Genetic Technologies and the Challenge to Equality 88
  • 7: Responding to the Challenge 110
  • 8: Conclusion 129
  • References 131
  • Index 145
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