03/22/2012 08:49 am ET Updated May 22, 2012

Review: 'Am I My Genes? Confronting Fate And Family Secrets In The Age Of Genetic Testing'

Review of Robert L. Klitzman, M.D. Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing. New York: Oxford University Press, 2012, pp. 365

I was a child dark of hair, eyes and skin. My sister M. was as fair and blue-eyed as I was noir. My brother E. and another sister, S., were wholesomely brunette. When we would walk down the main street of the small town where we were born, people would point to us and ask of M. or me, "Which one is adopted?"

My father would biologically claim us all. Then he would take out pen and paper and make a sketch that deftly illustrated "Mendel's law" of heredity, of "brown" and "white" traits, "b" and "w." E. and S. combined "b" and "w." M. was "ww," and I -- he would nod at me -- was "bb." Given the hunting and fishing culture of the region, some people thought he was merrily referring to BB guns as well.

Such was my introduction to post-World War II genetics. Rudimentary though it was, it taught me that within my cells were some mysterious flecks of matter, called genes, which dwelt on larger flecks of matter, called chromosomes. They influenced who I was and distinguished me from my brother and sisters. I might color my hair blonde; M. might color hers black. Neither of us could dye our genes. Looming over my father's sidewalk schoolroom was a profound existential question that unsettles contemporary society and religion. Was I more than my genes? Did I have an open future, free will, even a soul? Or was I only my genes? Was I a pre-determined gene machine?

Robert L. Klitzman is my new and welcome teacher. A psychiatrist and bioethicist, he has published widely, influentially, and humanely about medicine and scientific ethics. "Am I My Genes? Confronting Fate and Family Secrets in the Age of Genetic Testing" is a gift to early 21st century genetics. The brave new world of which genetics is an architect is now so deep and pervasive that it is easy to forget how new it is -- and how deep and pervasive. The Gregor Mendel to whom my father referred was an Augustian monk with health problems, born in the Austro-Hungarian Empire in 1822, dying there in 1884. His experiments with edible peas in his monastery garden, begun in 1854, led to profound theories about the units of heredity, that "B" and "W" stuff, and the statistical laws they obey. The term "gene" was coined in 1909, when my father was a very small boy. The first discovery of a disease-causing mutant human gene, for Huntington's Disease (HD), was made less than three decades ago, in 1986, after my father's death. The work of that scientific monk has led -- and no doubt it would be to his astonishment -- to such procedures as preimplantation genetic diagnosis (PGD) in which people can select what embryos, with what genetic characteristics, are candidates for further development within a womb.

Klitzman's invaluable contribution is to survey the existing literature about genetic tests (assays), and, even more crucially, to give us the demographically diverse voices of 64 people who either have or are at risk for a genetic disease. These 64 are witnesses to the experience of living daily with one. He protects their privacy through changing their names and withholding information that would be too specific. Deliberately, Klitzman has selected different diseases that together give us a spectrum of being sick: Huntington's Disease, breast cancer, and Alpha-1 antitrypsin deficiency, a less well-known illness that affects the lungs and liver. We hear Albert, and Dorothy, and Yvonne. We listen to accountants, actresses, factory workers, lawyers, medical secretaries, policemen, teachers, and waitresses. We can empathize with them, identify with them, and, slowly but dramatically, begin to understand the complexities for the mind, heart, and spirit of each and every citizen of our brave new world -- be we sick or well.

How much, for example, do we wish to tolerate the continued commercialization of genetic testing, the promotion of kits from profit-making outfits, even though the science of testing is very young, fallible, unevenly predictive, and open to uncertain results and misinterpretations? The Internet beckons us on to purchases and promises of knowledge about the future -- as if a kit were our equivalent of an ancient oracle.

Systematically, Klitzman organizes the conflicting answers that his 64 witnesses provide to a series of aching questions. Shall I be tested? Whom should I tell about the results if I am? Two poignant chapters are about sharing information with family, friends, or employers who may control the miserable necessities of health insurance. Not surprisingly, most of the 64 have come to favor universal health insurance. Another set of questions is about therapy. What drugs and treatments are available to me? If I am at risk for breast cancer, should I undergo prophylactic surgery? If I am of reproductive age, should I refuse to have children and stop the mutant gene in its tracks? And should I enter a genetic community of those who are like me in terms of disease but perhaps in few other ways? Formidably, the "why me?" question looms. Why should my cells contain a mutant gene, and not yours?

Sensitive to the individuality of his witnesses, Klitzman shows how fluid they are, how they change during the course of their disease, and how they differ from one another. Religion and spirituality are dividing lines---as they are in contemporary society. Peter, who has Alpha, is a militant agnostic. He says, "'I don't know if there is a God. But if there is a God, he fucked up.'" In contrast, Anna, who has a family history of breast cancer but no symptoms now and no testing, is a believer. "God has a plan for everyone. He ain't sending me to the doctors for no reason. So, if there's anything wrong, there's a reason why I went to the doctor: to find out. It can't be prevented, because it's inherited. But it can be helped: morally and physically. "(p. 135) And Dorothy, after trying vainly to persuade a vulnerable family member to get tested, must listen to his religiosity. She states, "He's in denial... He just can't accept that a horrific genetic disease could be in his family. He came over with a book of Old Testament sayings and said, 'Pray for a miracle.'" (p. 99)

Yet, despite their differences, the 64 witnesses have deep commonalities. Like most of us, they suffer from a misunderstanding of genetics and from a lack of education about the modern revolution in the life sciences. One common illusion is that a child is more apt to inherit a disease mutation from a parent if that child physically resembles the parent. Even if authority figures are sincere and well-informed, their counsel is limited by their own belief systems, the current state of scientific knowledge, the difficulties of the choices people confront, and the sheer unpredictability of life. Small wonder that ancient oracles could speak opaquely. Klitzman begins with a story about a young woman at risk for HD. Her "biggest question," she tells this sophisticated doctor, is "whether I should just try to have kids with my husband, or adopt, abort, or have no children." Silent, sad, she stares at her lap. Kliztman cannot help. "... though a physician, I was uncertain what to say." (p. 4)

Yet, the 64 witnesses -- like Everyman in the medieval play -- carry moral and psychological weapons on their journeys. They may be fearful, horrified, superstitious, and prone to magical thinking. However, they courageously live with contradictions, complexities, and uncertainties about the closeness of death. They also have a chosen destiny. "These patients," Klitzman writes sympathetically, "do not primarily seek truth (as do scientists), but instead pursue health." (p. 326) So doing, they become adepts at creating an identity that is connected to the larger worlds of their past, their society, and their cosmos, an identity that desires meaning and hope. No matter what their belief in a particular faith, no matter what their membership (if any) in a particular church, these 64 witnesses are our spiritual pilgrims.

I wish my father, himself a compassionate physician, might have been able to read this book.