MEDICO-LEGAL IMPLICATIONS OF HEREDITARY NON-POLYPOSIS COLORECTAL CANCER

The prodigious advancements in knowledge about genetic risk, natural history, recommended available surveillance and management, DNA testing, and the need for genetic counselling collectively are having a significant impact on the standard of care for hereditary non-polyposis colorectal cancer (HNPCC) and familial adenomatous polyposis (FAP), as well as for patients with a variety of other hereditary cancer prone disorders. For example, a standard of care has been adjudicated in favour of a patient with the hereditary breast-ovarian cancer syndrome who followed the recommendations of her gynaecological oncologist and a cancer geneticist to undergo prophylactic oophorectomy but whose insurance company failed to reimburse her for this procedure. While her petition for reimbursement was denied at the district court level, the Nebraska Supreme Court rendered a favourable decision on her part, commanding the insurance company (Blue Cross/Blue Shield) to provide reimbursement for this indicated procedure.¹⁶⁵
 In a legal decision involving a Lynch syndrome II patient, the family of the plaintiff received an out of court settlement from the defendant HMO for its failure to diagnose colorectal cancer. This patient had a positive family history of multiple occurrences of early onset colorectal cancer in her first and second degree relatives which were consistent with Lynch syndrome II. The plaintiff, a 16 year old girl, presented to the defendant HMO with symptoms for about one year consisting of constipation, weight loss, fatigue, and occasional abdominal pain, all of which had become progressive. A computed tomography (CT) scan of the abdomen failed to show any abnormality. Nurse practitioners subsequently shared in the bulk of her care during the following three years. The patient's mother requested that her daughter undergo colonoscopy because of her strong family history of early onset colorectal cancer (CRC). However, a flexible sigmoidoscopy was ordered because the physicians associated "hereditary" with FAP. The physician assistant who performed the flexible sigmoidoscopy reassured the mother that, owing to the relatively young age of her daughter, this procedure was sufficient, particularly since adenomas or other lesions were not observed in her at time of flexible sigmoidoscopy. However, the patient's weakness and weight loss persisted and at the age of 19 she presented with jaundice. A CT scan of the abdomen disclosed metastases to multiple sites in the liver and regional lymph nodes. At exploratory laparotomy, the diagnosis of moderately differentiated adenocarcinoma of the caecum was established, during which time biopsies of the liver disclosed metastatic adenocarcinoma consonant with CRC origin. The patient died at the age of 20.
 The expert witness (HTL) noted that the medical, pathology, and family history findings did not support a diagnosis of FAP as usually recognised,¹⁶⁶ but nevertheless the attenuated form of FAP (AFAP)^{7 167} was worthy of consideration. However, because of the proximal predominance of adenomas (in AFAP), colonoscopy is required.¹¹⁸¹⁶⁸ Attention was called to the exclusion of atypical FAP in the patient, thereby necessitating colonoscopy as opposed to flexible sigmoidoscopy as the appropriate diagnostic procedure.
 Another litigation because of failure to meet the standard of care was brought against a physician in California.¹⁶⁹ The plaintiff, during her initial pregnancy, related to her physician that her family had been involved in one of the original HNPCC studies. During a second pregnancy, she disclosed to the defendants that she was experiencing rectal bleeding and that she had a "mass" protruding from her rectum during defaecation. However, neither a rectal examination nor a stool Guiac was performed and she was told that her problem was because of  "haemorrhoids". However, the plaintiff demanded attention for the haemorrhoids and bleeding, and when endoscopy was performed a CRC was identified with metastasis to lymph nodes and liver. Because of the failure to establish a diagnosis over a two year period, it was argued that this contributed to her advanced stage of disease and a decrease in survivability. The jury verdict was in favour of the plaintiff.¹⁶⁹
 Finally, in a case involving FAP referred to as the Safer case,¹⁷⁰ at the age of 35 the father of the litigant had been evaluated by the defendant surgical oncologist. A retroperitoneal cancer was operated on and the diagnosis of FAP was established. The surviving spouse claimed that, although the surgeon discussed her husband's diagnosis, treatment, and cancer management, he failed to disclose the genetic risk for FAP even though the hereditary nature of FAP was known fully at the time the surgeon was treating the husband and thereby prevailing medical standards of care required a warning of risk for FAP so that the patient's children, then aged 10 and 17, might benefit from early colon surveillance. Subsequently, one of the children, at the age of 36, experienced lower abdominal pain and underwent surgery and extensive chemotherapy for CRC in concert with FAP. She examined her father's medical records and concluded that her condition was the same, namely FAP. Further inquiry led her to the following conclusions: (1) her condition was hereditary; (2) her father's surgeon knew of the hereditary nature of her father's disease; (3) she should have been suspected of being at increased risk for FAP; (4) because of this risk, she should have been warned to monitor for such a disease; and (5) her cancer would probably have been preventable had surveillance been done. "The daughter filed a claim of negligence against the estate of the surgeon, alleging the following: (1) that he had a duty to warn those known to be at risk of avoidable harm from a genetically transmissible condition existing in his patient, (2) that the physician's duty did extend to members of the immediate family of his patient, and (3) that he had breached these duties."¹⁷¹ The suit was won by the plaintiff in 1996.
 

165 Lynch HT, Severin MJ, Mooney MJ, Lynch JF. Insurance adjudication favoring prophylactic surgery in hereditary breast-ovarian cancer syndrome. Gynecol Oncol 1995;57:23–6.
166 Lynch HT, Smyrk T, Lynch J. Genetics and cancer of the gastrointestinal tract. In: Wanebo HJ, ed. Surgery for gastrointestinal cancer: a multidisciplinary approach. Philadelphia: Lippincott-Raven, 1997:59–86.
167 Dugaw JE, Lynch HT. Medical students as "probation officers" for juvenile offenders. Nebr State Med J 1971;56:60–2.
168 Winawer SJ, Fletcher RH, Miller L, et al. Colorectal cancer screening: clinical guidelines and rationale. Gastroenterology 1997;112:594–642.
169 Seamon v Miller, Sacramento County Sup Ct, Docket 534952 (1994).
170 Safer v Estate of Pack, 677 A.2d 1188 (1996).
171 Lynch HT, Paulson J, Severin M, Lynch J, Lynch P. Failure to diagnose hereditary colorectal cancer and its medicolegal implications: a hereditary nonpolyposis colorectal cancer case. Dis Colon Rectum 1999;42:31–5.