The Destiny That Lurks in Our DNA
Groopman, Jerome, Medical Economics
How do you help a patient-and friend with a defective breast cancer gene confront one of medicine's scariest questions?
Not long ago, Karen Belz made an appointment to see me in my office. I'd known her for years, as a family friend. She worked as an English teacher at a local high school, played in the same tennis league as my wife, had two school-age children, and was active in town politics. Always frank and direct in her dealing, she expected the same from others. Now she was telling me that she wanted to be tested for mutations in the so-called breast cancer genes, BRCA1 and BRCA2. "I can't continue in this limbo," she said. "I have to know."
I wasn't surprised, because she wasn't the first member of the Belz family to visit my office. (For purposes of confidentiality, the names and certain identifying details have been altered.) Karen's mother, Eva, after a long struggle, had succumbed to breast cancer some three years ago. Five months earlier, Karen's sister Ruth, only two years older than she was, had developed the same malignancy, at age 36. By the time Ruth's gynecologist detected the cancer on her routine surveillance mammogram, it had spread to her vertebrae and her lungs. I was currently treating her with intensive chemotherapy and radiation. Shortly after her tumor was diagnosed, Ruth had tested positive for BRCA mutation linked to breast cancer and had pressed Karen to be tested as well.
Marek Belz, Karen and Ruth's father, was strongly opposed to his daughters' being tested, fearing that the result would one day be exploited to harm his family. He was familiar with the abuse of genetics. Marek had escaped from Poland a year before the Nazi invasion with Eva. When she became ill, neither could tell about the occurrence of cancer in close family members: Every member of their own generation and every member of the generation before had perished in the Holocaust. Karen, however, was unmoved by her father's opposition: She told him she'd simply have to take the risk. Since Ruth's diagnosis-first of cancer and then of the aberrant gene-the anxiety of not knowing had dominated Karen's thoughts, preventing her from getting to sleep and then shocking her awake at 3 or 4 a.m. Her daydreams were penetrated by memories of her mother's slow death, and she had nightmares that Ruth would soon be lost as well. Not knowing seemed worse than knowing.
All participants in cancer geneticsusceptibility programs are required to read and sign an informed-consent document before being tested. At Beth Israel Deaconess Medical Center in Boston, ours comes with some assurances. The patient can elect not to know the test result immediately but to wait until she is ready, or even change her mind and never know; the result is to be given only to her, in person and by her own physician; the fact that she has been tested, as well as the test's outcome, does not appear in her medical records but is stored in a locked research file, identified by a code number; the list connecting the code with her name is kept separate from the test results; and no insurance company, governmental agency, health worker, family member, or other party can obtain the test result without her written permission. I informed Karen of the protocol, and read to her a section entitled "Potential Risks of Knowing Your Genetic Test Result," which states, "This information may cause you distress, sadness, depression, anxiety, or anger."
"I look forward to all of the above," Karen said acidly.
BRCA testing is one of the first fruits of the human genome project. The informed-consent document that Karen signed before being tested is specific for the genetic testing of BRCA1 and 2, two genes among the estimated 100,000 genes contained within our 46 chromosomes. Women who inherit a single defective copy of either BRCA1 or BRCA2 are at a significantly increased risk for breast and ovarian cancer over the course of their lives. …