Nearly everyone has pondered his or her genetic destiny, whether in childhood fantasies about growing up in rich or poor families or in adult stories about struggling against biological and social limitations. In the last decade, however, the fields of genetics and molecular biology have suggested that biology need not always be destiny.
As both of these accessible books vividly illustrate, new scientific insights into maladies such as Huntington's disease and cystic fibrosis already are helping us battle inherited illness.
"Genome" opens as Milton Wexler, a distinguished Los Angeles psychoanalyst, informs his two accomplished daughters, Alice and Nancy, that their mother Leonore has been struck with Huntington's disease, a degenerative disorder of the brain. Each child of a parent with Huntington's disease has a 50-50 chance of developing the illness, whose symptoms--alterations of movement, mood and memory--usually begin in mid-life.
Jerry Bishop and Michael Waldholz, science reporters at the Wall Street Journal, chronicle the Wexler family's response to this challenge: They started the Hereditary Disease Foundation to encourage basic research on Huntington's disease and other genetic disorders, recruited previously uninvolved scientists (including this reviewer) to plan and execute such research, and organized a ground-breaking study of a huge family with Huntington's disease that lives on the shores of Venezuela's Lake Maracaibo.
As a result of the Wexlers' efforts, Huntington's disease, which once cast a glaring light on medicine's inability to confront genetic illness, now symbolizes hope for the future. The location of the Huntington's disease gene on the human genetic map was discovered in 1983, encouraging the subsequent mapping and even the actual isolation of genes for other diseases--including cystic fibrosis, which affects one in about 2,500 children born in the United States. Researchers hope that such information will lead to understanding and cures, but therapies based on such information are years--if not decades--away. Already, however, the molecular advances enable us to predict many of whom will be stricken.
Of course, such prognostic prowess is a mixed blessing. Some people at risk for a genetic disease want to know their status, and some do not. In "Mapping Our Genes," free-lance science journalist Lois Wingerson tells the moving story of "Frances," a highly educated young woman at risk for Huntington's disease.
When Frances was 12 or 13, her father began acting strangely--suffering from gross memory lapses, ordering for the whole family at restaurants without asking what they wanted, prohibiting his children from having parties. Frances watched as her father was confined in a straitjacket and carried away to a series of hospitals.
Years later, just before Frances' wedding, it was discovered that her father probably had been suffering from Huntington's disease. Frances and her fiance went ahead with the wedding anyway, but when a test for the disease became available, Frances signed up. After weeks of postponed results, a doctor ushered her into a small room and told her she would not succumb to the disease: "Everything's fine. It's fine."
Not unlike people told that they have been infected with AIDS virus, people diagnosed as possessors of the Huntington's gene cannot know when the poised sword will strike. Facing such information requires immense internal strength as well as solid external support from family, friends and health professionals. The reader can only be scandalized by the practice of conveying such information by an indifferent phone call or form letter, as has often been the case for carriers of the AIDS virus. As predictive testing becomes increasingly available, the medical community must develop and enforce clear and empathic standards of practice.
"Mapping Our Genes" and "Genome" cover much the same ground--the search for the genes responsible for Huntington's disease, cystic fibrosis, manic depressive illness and inherited cancers--and both convey the intellectual excitement of the chase.