Heredity and Hope

The mapping of the human genome is said to herald a brighter future for humanity’s age-old struggle to cure disease and alleviate suffering. But the genetic testing that helps new and expecting parents to manage their way toward that healthier future leads down a road fraught with uncertainty and hard choices – what Ruth Schwartz Cowan calls “mind-boggling decision trees.” In Heredity and Hope: The Case for Genetic Screening, she writes, “The decisions we make about genetic testing depend on our answers to questions on which even philosophers and theologians disagree.”

Cowan, the Janice and Julian Bers Professor of the History and Sociology of Science, says the thinking for her new book started in 1979 as she lay on a gurney, four months pregnant, trying to understand the statistical nuances laid out in a four-page consent form she needed to sign for amniocentesis, a then new procedure. Genetic science and its clinical applications have advanced, but what ordinary people should do with all the information about “increased risk” and “low probability” that passes for informed consent persists as another sort of human affliction. “Genetic testing is much more pervasive today than it was 30 years ago,” she writes, “it is also more complex and, if anything, more troubling.”

Heredity and Hope is part history and part philosophical balm that aims to ease the anguish wrought by the welter of information that genetic screening brings to personal decision making and public policy. “I was trying, in short, to resolve bioethical puzzles with historians’ tools, by exploring the meaning of genetic testing to those who had developed it and those who had experienced it,” she says.

Cowan is a historian of science, technology and medicine.  In Heredity, she chronicles the story of several genetic diseases and disabilities – Tay-Sachs disease, phenylketonuria, Down syndrome, sickle-cell anemia – and recounts how scientists and clinicians devised genetic tests for them. Many critics of genetic screening point to the historical connections between genetic science and the eugenics movement, including Nazi genocide. Cowan argues that the people who developed the technologies of genetic testing and those who used them were not seeking to improve “the race” or create a “perfect” baby. All “acted in the hope of reducing suffering,” she asserts. “[T]hose goals get hard-wired, as it were, into the components of the system” that links the technologies and institutions that carry out the tests.

Having searched the records of the past, Cowan writes to clear the ground of considerable dis- and misinformation so that parents and public servants will have clearer vistas for understanding the hope the technologies of medical genetics hold out. “My hope,” she writes, “is to persuade opponents of medical genetics to rethink their positions and, more important, to provide some guidelines for all those people – doctors and patients, rich and poor, women and men, legislators, parents, business leaders, and citizens – who will have to make decisions about these complex matters in the years to come.”