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A man opens a letter from Massachusetts General Hospital (MGH). It reads: Your recent colonoscopy identified a single polyp, which on pathology was a tubular adenoma. These are sometimes precancerous. Now that all the tissue has been removed, this risk is gone. … Because you have a history of forming polyps, other members of your family are at risk. This would include any siblings; they should all undertake full colonoscopy. Your children should undertake full colonoscopy at age 40. Within days, his daughter in New York gets a copy of the letter informing her of her risk of colon cancer. There is good news: Knowledge is power — to be screened, to be vigilant. The bad news is that the daughter now carries with her that very knowledge that she is at risk of a fatal disease. With knowledge also comes fear — that the information will be used to discriminate against the family in insurance and employment matters. But the doctor is no longer at risk for a genetic malpractice lawsuit. He has urged the patient to notify family members of the risk. Whether he is really absolved from further responsibility remains to be seen. This is the new world of genetic testing. Ethics and law are struggling to adjust to our newfound ability to predict the future. In June 2000, the International Human Genome Project completed an initial sequence of the human genome. Decoding the human genome was hailed as leading to new ways to prevent, diagnose, treat and cure disease. If used in the right way, such knowledge has the potential to contribute to both the length and quality of life. But it comes with its own set of challenges, no more so than for physicians and their patients. Let’s go back to our MGH patient and his physician: (1) When, and under what conditions, is the physician required to inform a patient that genetic testing is available? (2) If the testing proves positive, how should the information be used? Who, if anyone, is mandated to be notified of the results? (3) What if the patient doesn’t choose to share the results with potentially affected family members? Will the physician have fulfilled his responsibilities by urging the patient to disclose? When will the physician be responsible, if at all, to third parties? DUTY TO TEST Most of the cases requiring a physician to inform a patient of potential genetic testing still lie in the reproductive area. The first genetic testing in the 1960s was for phenylketonuria in newborns, a metabolic disorder that causes mental retardation if the dietary intake of phenylalanine is not drastically reduced. Because as many as 5 percent of all newborns carry a congenital or hereditary disorder, [FOOTNOTE 1] failure to screen for these disorders has long been in the forefront of genetic malpractice lawsuits. Since the first wrongful birth case, Jacobs v. Theimer, 519 S. W.2d 846 (Texas 1975), was decided, lawsuits claiming that genetic testing should have been offered to prospective parents, either before or during pregnancy, have become common. See, e.g., Siemieniec v. Lutheran General Hospital, 512 N.E. 2d 691 (Ill. 1987). The theory is as follows: If the parents had known that they would produce a “defective” child, they would have chosen either not to conceive or to abort. Schroeder v. Perkel, 432 A.2d 834 (N.J. 1981), was a variation on that theme. The court held that a pediatrician’s failure to diagnose cystic fibrosis in the Schroeders’ first child deprived the parents of the opportunity to make “an informed choice about whether to assume the risk of a second child.” In that case, because cystic fibrosis is a genetically transferred disease, the diagnosis in the first child could have predicted the fact that the second child would also have the condition, which he did. Our patient at MGH is in a different position, however. There is nothing that the genetic testing can do to prevent his potential condition. Rather, it allows him an opportunity to have screening done more often — early detection and treatment rather than prevention. The real dilemma for the average practitioner is keeping up with the explosion of available genetic testing. [FOOTNOTE 2] Somewhere in the neighborhood of 5,000 diseases have a genetic component, [FOOTNOTE 3] and approximately 53 of 1,000 people will have developed a genetic disease by the time they are 25. [FOOTNOTE 4] Surely, providers are required to offer genetic testing to high-risk patients, as we have seen in the reproductive cases. Munro v. Regents of the University of California, 263 Cal. Rptr. at 880 (1989). But who constitutes a high-risk patient and how much the average primary care physician is required to know and offer is still unclear. Aside from commonly accepted and available screening — colonoscopies, mammograms, PSA tests — how sophisticated does the local doctor have to be to avoid liability? There are at least 400 genetic tests currently available, and more are being developed every day. Patients think the physician should be up to the task. In a study by the American Medical Association, 82 percent of those surveyed expressed confidence in their primary physicians’ ability to tell them about their risk of developing a genetic disease, tell them about available genetic testing, and interpret the results of genetic testing. [FOOTNOTE 5] This is disturbing in light of another study of genetic testing for colon cancer, in which 20 percent of the patients tested did not meet the accepted criteria, 20 percent of the tests were not performed properly and 33 percent of the time the physician’s interpretation of the results was not correct. [FOOTNOTE 6] Given how confident the average patient is, and how often that confidence may not be warranted, sooner or later there will be a disappointed patient who will file a lawsuit. However, at the present time, outside the reproductive area, we have found no reported cases finding genetic malpractice in this regard. DUTY TO REPORT FINDINGS Reporting the results of the colonoscopy, or any test, to our MGH patient is standard. Failure to do so is a recipe for malpractice, and genetic testing results are no different. For testing that results in information that shows risk to third parties, the standard practice is to do what MGH did — urge the patient to notify family members. In our case, the father immediately notified his daughter. The interesting question is whether the daughter wanted to be burdened with the knowledge that she was at risk for colon cancer. One study found that fewer than 50 percent of people with a family history of breast or ovarian cancer wanted to know if they carried a gene linked to the disease. [FOOTNOTE 7] Another sad study found that the suicide rate for those who know they may contract Huntington’s disease, a fatal and incurable condition, is four times higher than the general population. [FOOTNOTE 8] Knowing that you may carry the gene for a fatal disease, especially if it can’t be prevented or cured, is not always helpful. Nonetheless, a physician who did not urge a patient to notify family members of a genetic test would be asking for a malpractice suit. Indeed, there has been a growing number of such suits. In Pate v. Threlkel, 661 So. 2d 278 (1995), suit was brought by the daughter of a woman treated for thyroid cancer in 1987. Three years later, the woman’s daughter learned she had the same cancer. The daughter sued her mother’s physician, alleging that he should have known the likelihood that she was at risk for the disease and had a duty to inform her. The Florida Supreme Court held that the physician does have a duty to warn, but that warning the patient satisfies that duty. Furthermore, requiring the physician to warn family members would be “difficult” and “impractical” and “would place too heavy a burden upon the physician.” Second, there is the often legitimate fear for a family member who is notified of genetic testing results that such information will be used to discriminate against him or her — in the ability to obtain disability, long-term care or life and health insurance, as well as discrimination in employment. Legislatures share the same concern, and more than 40 states have passed laws designed to provide protection for confidentiality and use of genetic test results. However, the laws do not always work. In a survey of people having a known genetic condition in their family, 22 percent said they had been refused health insurance coverage because of the condition, whether they were sick or not. [FOOTNOTE 9] Not knowing means not having to report the condition. It seems appropriate for the physician to inform the patient, but to make it the patient’s responsibility to inform family members. This way the patient�who we would assume has an interest in the well-being of family members — can decide whether the information will help or hurt those he or she loves. DUTY TO DISCLOSE TO THIRD PARTIES What if the patient doesn’t, or refuses to, provide the genetic testing information to family members? Should the physician disclose the results to third parties, and will he be responsible if he doesn’t? By and large the answer has been “no,” as was demonstrated in the Pate case. That also has been the opinion of ethics committees struggling with the issue. [FOOTNOTE 10] On the other hand, there is at least one case holding a physician responsible under just these circumstances. In Safer v. Pack, 683 A.2d 1163 (1996), a daughter of a man who died in 1964 of colon cancer when she was 10 was similarly diagnosed in 1990. She sued the estate of her father’s doctor (the doctor had died in 1969) for negligence in failing to inform her of the hereditary component of her father’s disease. Although it could not be proved, the courts acted on the assumption that Dr. Pack did not inform even his patient of the hereditary nature of his disease. The New Jersey Supreme Court decided that genetic disease shared similar issues of foreseeability to infectious disease, and the doctor had a legal duty to warn immediate family members of a patient with a genetic disease. What is the caution for physicians? Do what MGH did: Write to the patient urging that he or she inform family members. While the law is still developing in this area, the current thinking is that such action should protect the physician from legal action by family members. With the Human Genome Project, the explosion of genetic information and testing, and the demand of the public to be informed about future medical problems, the physician today must do the best he or can in a rapidly developing area. The physician should recommend genetic testing when appropriate, inform the patient of the results and urge the patient — in writing — to inform family members. This is no guarantee that the physician will be protected from lawsuits, but it is the safest advice at the present. Linda S. Crawford, J.D., teaches trial advocacy at Harvard Law School and consults with defendants nationwide before deposition and trial. Telephone: (800) 208-6117.


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