Post by Bozur on Jan 18, 2006 2:48:53 GMT -5
Cases
Genetic Testing Creates New Versions of Ancient Dilemmas
By ROBERT KLITZMAN, M.D.
Published: January 17, 2006
"I pleaded with my sister, Susan, to get genetic testing, but she refused," a woman recently told me in my office.
James Jean
Susan, the woman said, already had breast cancer, so her health insurance company would have paid for the testing.
"I am at high risk for developing breast cancer," she said. If she knew that Susan was gene positive, she would consider having her own breasts removed.
The woman in my office couldn't afford the genetic testing herself: it costs over $3,000. Her insurance wouldn't pay for the testing because she had not yet had cancer. Yet she had had multiple calcifications in her breasts. Tumors could be hiding there, undetected. The woman's mother and aunt had died of the disease.
Genetic tests for the breast cancer genes known as BRCA1 and BRCA2 account for only 40 to 80 percent of all breast cancers. Researchers are still trying to identify BRCA3 and BRCA4 genes that may account for the rest.
In the meantime, Susan's refusal to be tested affected this woman's life, as well. In the new genetic age, the notion that family members are "bound by ties of blood" takes on new meaning.
I admired this woman's courage. I realized that I wouldn't want to have to face these choices myself. She wanted to know her fate. But not everyone does. Countless patients struggle daily, unsure what to do.
What role should physicians play here? How much should a doctor encourage patients or family members to be tested if they do not want to be?
The fact that every family has its own unspoken, unwritten rules complicates these decisions. In coming years, these familial tensions will only increase. Every month, new genetic tests are marketed, but the data they provide are often unclear.
Until a few years ago, scientists had hoped to find single genes that caused diseases. But illnesses that are determined by single genes seem to be rare.
Rather, whether someone develops a particular disease often depends on multiple genes. Having a breast cancer gene, for example, means that you have a 36 to 85 percent chance of developing the cancer. Environmental factors and additional, modifying genes and are also likely to play major roles.
These dilemmas bring to mind the ancient Greek belief that three Fates measured out the length of each human life, and that oracles foretold the future. But the predictions of the oracles were rarely either simple, or what was sought. Misinterpretation was always a danger.
The Oracle at Delphi predicted that Oedipus would kill his father and marry his mother. Oedipus thought he could escape this destiny. But in the end, he willingly performed both these acts, without knowing at the time that he was doing so. Herodotus tells of King Croesus in Asia Minor, who, when consulting an oracle, was told that if he mounted an invasion, a mighty empire would fall. He attacked, and in the end, as Herodotus writes, "the Oracle was fulfilled; Croesus had destroyed a mighty empire - his own."
Since the Renaissance, literature and art have presented the Greek fates ambivalently, either as divine beings fulfilling the work of God or old hags mercilessly dashing human hopes.
As science progresses, as more genes are found, their meaning uncertain, we will be unsure how to proceed. Much like the ancients, we will get information that we don't want to know and don't know how to use.
In the past, a doctor cared only for a patient's health and well-being. Yet with increasing understanding of infectious and genetic diseases and improving treatment for them, physicians are recognizing the extent of their responsibilities not only for a patient's health but for the public health.
In the future, doctors may even decide to violate patients' rights to privacy to protect the lives of a third parties.
In the future, the courts might rule that doctors should break patient confidentiality to warn family members of genetic risks.
As we enter the new genetic age, more education is needed to help doctors, nurses, genetics counselors, patients and their families face these quandaries. We have much to learn from the Greeks: to be cautious in interpreting prognostications, to beware that genetic information, like oracles, may offer an illusion of certainty.
In the end, Susan finally did get testing, and her tests were negative. Perhaps she had a gene that has not yet been identified.
In any case, Susan's sister still faces difficult choices, and she is trying to decide whether to undergo prophylactic radical mastectomies.
I'm not sure what I would do.
The ancient Greeks would have said that an oracle could predict her decision. Yet, at least for now, her choice cannot be foretold.
Robert Klitzman is co-director of the Columbia University Center for Bioethics.
Genetic Testing Creates New Versions of Ancient Dilemmas
By ROBERT KLITZMAN, M.D.
Published: January 17, 2006
"I pleaded with my sister, Susan, to get genetic testing, but she refused," a woman recently told me in my office.
James Jean
Susan, the woman said, already had breast cancer, so her health insurance company would have paid for the testing.
"I am at high risk for developing breast cancer," she said. If she knew that Susan was gene positive, she would consider having her own breasts removed.
The woman in my office couldn't afford the genetic testing herself: it costs over $3,000. Her insurance wouldn't pay for the testing because she had not yet had cancer. Yet she had had multiple calcifications in her breasts. Tumors could be hiding there, undetected. The woman's mother and aunt had died of the disease.
Genetic tests for the breast cancer genes known as BRCA1 and BRCA2 account for only 40 to 80 percent of all breast cancers. Researchers are still trying to identify BRCA3 and BRCA4 genes that may account for the rest.
In the meantime, Susan's refusal to be tested affected this woman's life, as well. In the new genetic age, the notion that family members are "bound by ties of blood" takes on new meaning.
I admired this woman's courage. I realized that I wouldn't want to have to face these choices myself. She wanted to know her fate. But not everyone does. Countless patients struggle daily, unsure what to do.
What role should physicians play here? How much should a doctor encourage patients or family members to be tested if they do not want to be?
The fact that every family has its own unspoken, unwritten rules complicates these decisions. In coming years, these familial tensions will only increase. Every month, new genetic tests are marketed, but the data they provide are often unclear.
Until a few years ago, scientists had hoped to find single genes that caused diseases. But illnesses that are determined by single genes seem to be rare.
Rather, whether someone develops a particular disease often depends on multiple genes. Having a breast cancer gene, for example, means that you have a 36 to 85 percent chance of developing the cancer. Environmental factors and additional, modifying genes and are also likely to play major roles.
These dilemmas bring to mind the ancient Greek belief that three Fates measured out the length of each human life, and that oracles foretold the future. But the predictions of the oracles were rarely either simple, or what was sought. Misinterpretation was always a danger.
The Oracle at Delphi predicted that Oedipus would kill his father and marry his mother. Oedipus thought he could escape this destiny. But in the end, he willingly performed both these acts, without knowing at the time that he was doing so. Herodotus tells of King Croesus in Asia Minor, who, when consulting an oracle, was told that if he mounted an invasion, a mighty empire would fall. He attacked, and in the end, as Herodotus writes, "the Oracle was fulfilled; Croesus had destroyed a mighty empire - his own."
Since the Renaissance, literature and art have presented the Greek fates ambivalently, either as divine beings fulfilling the work of God or old hags mercilessly dashing human hopes.
As science progresses, as more genes are found, their meaning uncertain, we will be unsure how to proceed. Much like the ancients, we will get information that we don't want to know and don't know how to use.
In the past, a doctor cared only for a patient's health and well-being. Yet with increasing understanding of infectious and genetic diseases and improving treatment for them, physicians are recognizing the extent of their responsibilities not only for a patient's health but for the public health.
In the future, doctors may even decide to violate patients' rights to privacy to protect the lives of a third parties.
In the future, the courts might rule that doctors should break patient confidentiality to warn family members of genetic risks.
As we enter the new genetic age, more education is needed to help doctors, nurses, genetics counselors, patients and their families face these quandaries. We have much to learn from the Greeks: to be cautious in interpreting prognostications, to beware that genetic information, like oracles, may offer an illusion of certainty.
In the end, Susan finally did get testing, and her tests were negative. Perhaps she had a gene that has not yet been identified.
In any case, Susan's sister still faces difficult choices, and she is trying to decide whether to undergo prophylactic radical mastectomies.
I'm not sure what I would do.
The ancient Greeks would have said that an oracle could predict her decision. Yet, at least for now, her choice cannot be foretold.
Robert Klitzman is co-director of the Columbia University Center for Bioethics.