Matthew J. Severin

Failure to diagnose hereditary colorectal cancer and its medicolegal implications: A hereditary nonpolyposis colorectal cancer case

PURPOSE: We describe a patient who had precancerous colonic symptoms and a positive family history of multiple occurrences of early-onset colorectal cancer in her first-degree and second-degree relatives consistent with hereditary nonpolyposis colorectal cancer. Hereditary nonpolyposis colorectal cancer diagnosis had not been made before her diagnosis of carcinoma of the cecum with liver metastasis. She died at age 20, leading to litigation. Controversies about standards of care, their malpractice implications, and pertinent legal issues are discussed. METHODS: Review of the medical and family history was made by the expert witness (HTL) with appropriate documentation of the chronology of symptoms, as derived from depositions. These documents revealed that the patients mother had repeatedly discussed with the caregivers her concern about the family history of colon cancer and the need for appropriate surveillance. RESULTS: The patients colonic symptoms progressed for a period of three years. Flexible sigmoidoscopy was performed by a nonphysician. The physician who ordered the procedure considered this appropriate because isolated polyps were reported in the patients father and paternal uncle, which apparently led him to believe that the diagnosis was familial adenomatous polyposis. During litigation procedures, a pedigree was constructed and found to be consistent with hereditary nonpolyposis colorectal cancer. The case was settled in favor of the plaintiff before trial. CONCLUSION: It is essential to understand the natural history of hereditary nonpolyposis colorectal cancer, inclusive of the need for surveillance colonoscopy in patients at increased risk by virtue of their position in their family pedigree.

Psychological aspects of monitoring high risk women for breast cancer

Background. There is a paucity of knowledge pertaining to the attitudes, feelings, and emotions of women who are at increased familial risk for breast cancer and how these concerns will affect their surveillance behavior. A review of the literature shows an unevenness in the conclusions about these matters, with some reports indicating that anxiety aroused in the familial cancer setting may abet surveillance behavior, whereas other data indicates a negative effect.

Genetic susceptibility for specific cancers

The use of genetic profiling techniques to detect individuals with an increased susceptibility to heritable cancers has provoked recent legal interest in the duties of the attending physician and in the rights of patients and their families. In the current study specific prima facie and recently litigated cases are presented and explored to delineate the issues facing physicians and to illustrate the prerogatives of patients who are caught up in a heritable cancer enigma. Various courts have attempted to answer questions involving lawsuits in which incidents of breast/ovarian carcinoma and colon carcinoma have provoked claims of negligence against health care providers. Health care workers involved in the care of these patients have specific duties to these individuals. It would appear that physicians are being forced to assume the additional duty of delving into a patients family history of cancer through multiple generations. This duty is followed by a responsibility to provide detailed counseling to those patients in whom such activity impacts the diagnosis and management of familial cancer. Cancer 1999;86:2564–9.

Diethylstilbestrol, teratogenesis, and carcinogenesis: Medical/legal implications of its long-term sequelae, including third generation effects

The spectrum of teratogenic and carcinogenic effects which can be exerted when the unborn child is exposed to diethylstilbestrol (DES) has been shown to be broad. Animal work indicates the need for vigilance as regards genetic susceptibility to DES sequelae. The emergence of third generation sequelae has been demonstrated in mice, and has been postulated to occur in humans. Given the emergent data establishing problems of infertility in men and women and of relatively late onset cancer, and the possibility that in utero exposure to DES may prime a variety of tissues to noxious environmental influences there is an urgent need for measures to provide just coverage for those harmed by the drug. The DES disaster also raises important ethical and reserch questions which demand attention.

Breast carcinoma litigation

Questions concerning the use of family disease history and genetic testing in breast carcinoma patients have brought medical issues to the courts. Judicial answers with regard to the necessity for family history elucidation and the at risk status of asymptomatic carriers of genes associated with heritable disease have been recently recorded and are presented in this article. Cancer 1997; 80:600‐5.

Medical/Legal issues in genetic testing†

Patrick Lynch, J.D., M.D. (Co-Chair) T Matthew Severin, J.D., Ph.D. (Co-Chair) he workgroup considered a number of medical-legal issues in genetic testing, including regulatory issues, legislative issues, Alan Mills (Rapporteur) and emerging standards of patient care that perhaps have, or will, Linda Bosserman, M.D.* represent a ‘‘duty’’ on the part of the physician. These issues Doreine Carson* share a degree of uncertainty as well as a lack of clear and shared Donald C. Chambers, M.D.* standards, and in some instances are driven by competing interMyles Cunningham, M.D.* ests. The workgroup participants agreed that there was a pressing May Sung, M.P.H.* Nicholas J. Vogelzang, M.D.* need to further define and explore these issues, especially among competing interests, and that there should be strong collaborative initiatives among appropriate organizations to establish guidelines to assist the public and providers on issues related to risk assessment and clinical decision making.