Robert Klitzman - Am I My Genes?: Confronting Fate and Family Secrets in the Age of Genetic Testing

Am I My Genes?

Also by Robert Klitzman:

A Year-long Night: Tales of a Medical Internship

In a House of Dreams and Glass: Becoming a Psychiatrist

Being Positive: The Lives of Men and Women With HIV

The Trembling Mountain: A Personal Account of Kuru, Cannibals, and Mad Cow Disease

Mortal Secrets: Truth and Lies in the Age of AIDS (with Ronald Bayer)

When Doctors Become Patients

Confronting Fate and Family Secrets in the Age of Genetic Testing

ROBERT L. KLITZMAN, M.D.

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Copyright 2012 by Oxford University Press, Inc.

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Library of Congress Cataloging-in-Publication Data

Klitzman, Robert.
Am I my genes? : confronting fate and family secrets in the age of genetic testing /
Robert L. Klitzman.
p. ; cm.
ISBN 978-0-19-983716-8
1. Genetic screeningMoral and ethical aspects. 2. Privacy, Right of.
3. Medical recordsAccess control. I. Title.
[DNLM: 1. Genetic Privacyethics. 2. Genetic Testingethics. 3. Disclosureethics.
4. Family Relations. 5. Genetic Diseases, Inborn. 6. Self Disclosure. QZ 21]
RB155.65.K55 2012
362.19604207dc23

9 8 7 6 5 4 3 2 1

Printed in the United States of America on acid-free paper

I am deeply indebted to the men and women I interviewed for this bookfor their generosity and candor. I am very grateful, too, to the Ethical, Legal and Social Implications Program of the National Human Genome Research Institute for supporting this project (ROI-HG002431-01), and also to the Greenwall Foundation. I would like to thank Jean McEwen, Elizabeth Thomson, Joy Boyer, Francis Collins, William Stubing, and David Tanner; colleagues at Columbia University and elsewhere including Wendy Chung, Karen Marder, Deborah Thorne, Carol Moskowitz, Jennifer Williamson, Edward Eden, Lori Tartell, Rubie Senie, Victor Grann, and Carolyn Kumah for valuable assistance with recruiting participants; Anke Ehrhardt and Paul Appelbaum for their support; Lisa Chin, Melissa Conley, and Meghan Sweeney for their assistance with the manuscript; Joan Klitzman, Rick Hamlin, Melanie Thernstrom, and Patricia Volk for reading drafts of this manuscript; Peter Ohlin for his unfailing and much appreciated faith in this project; Christian Purdy, Lucy Randall, Lindsay Mellor, Susan Lee, and Smitha Raj at Oxford University Press; and Charles Bieber for his help in countless other ways.

Several sections of this material have appeared in different form in the Journal of the American Medical Association, American Journal of Medical Genetics, Genetics in Medicine, Genetic Testing, Journal of Genetic Counseling, and the New York Times.

Is the whole of life visible to us, or do we in fact know only the one hemisphere before we die?

VINCENT VAN GOGH

We tell ourselves stories in order to live.

JOAN DIDION

Am I my genes? she asked me. In her late thirties, she had breast cancer and had just learned that she had a mutation associated with the disease. She looked out the window in my office at the gray sky. We were both silent for a moment, each pondering her question. She seemed to be asking the question to herself, more than expecting a definitive answer from me.

Still, I wasnt sure what to say. I wondered to what degree exactly genes make us who we are, and how we understand what that means.

I always knew I shouldnt have lived on Long Island for those years, another woman with breast cancer told me a few days later.

Why is that? I asked.

Because thats why I got the cancer.

But you have the mutation, I reminded her.

Yes, but it was living on Long Island with all of those high tension wires, and the stress of staying in a crappy relationship that triggered the illness.

I dont believe my cancer is from God or genetics, a poor African American woman from the Bronx who also had a breast cancer mutation told me a few weeks later. Its from the environment. They dump garbage in the water and the landfills in the Bronx that they would never dump in Manhattan.

The biggest question I face, a young, attractive blonde woman at risk for Huntingtons disease said to me a few days afterward, is whether I should just try to have kids with my husband, or adopt, abort, or have no children. She stared down into her lap, silent and sad, unsure of how to resolve her dilemma. Again, though a physician, I was uncertain what to say.

These womens statements all surprised me but, I soon saw, were hardly unique. In interviewing people confronting several diseases for which genetic tests exist, I was continually struck by the wide range of dilemmas they faced. Genetic information forced these individuals to embark on journeys for which they had to navigate many obstacles.

They responded to genetic information about themselves as a kind of Rorschach testinterpreting this information in a wide range of ways, based on their prior views and stories about themselves and other cultural and personal experiences.

The issues they confront differ in several key ways from those of patients with other disorders for which no good genetic tests exist. The men and women I met struggle to make sense of diseases that threaten not only themselves, as single individuals, but others in their familiesdeceased, living, and not yet born. They feel guilty about the possibility that their mutations could harm their yet unborn children and grandchildren.

Genetic testing (also referred to below as genetic assay, assessment, and analysis) is rapidly spreading. Every year, dozens of new genetic tests are developed and offered. Over time, the amount of testing will soar. In industrialized countries such as the United States, physicians are increasingly offering genetic assays to patients and, it seems probable, will eventually sequence the entire genome of every patient. As outlined more fully below, our DNA consists of chains of four large molecules, known as nucleosidesadenine, cytosine, thymine, and guanine (abbreviated A, C, T, G)that serve as an alphabet. Every person has a unique set of three billion of these letters that constitute the genetic program that makes us. We share 99.9% of our DNA with each other, differing from one another only by about 0.1%.