Standards of care in diagnosis and testing for hereditary colon cancer

Abstract

Inherited colorectal cancer predisposition involves a rather heterogeneous range of rare, yet relatively well-defined disorders, including Familial Adenomatous Polyposis (FAP), Hereditary Non-polyposis Colorectal Cancer (HNPCC) or Lynch syndrome, Peutz-Jeghers syndrome, Juvenile Polyposis, and their respective variants. Due to their individual rarity and highly specialized genetic diagnostic and management demands, patients and families are often seen in tertiary referral centers. For the practitioner encountering a patient suspected of having one of these conditions, guidance is usually necessary. Fortunately, detailed clinical practice guidelines have been promulgated by leading medical specialty societies. Such guidelines, which specifically do include these conditions, have the effect of codifying best or recommended approaches. It is not clear that such guidelines actually codify standards of care. To the extent such guidelines enunciate a standard of care, their impact on the legal process remains largely undefined. Because clinical practice guidelines are readily available to patients and lawyers alike through easily accessible websites, practitioners may expect to be increasingly held accountable for departing from such guidelines. Since the medical-legal implications are evident, we expect these guidelines to impact the management of familial cancer, even in the persistent absence of clear precedents in the medical malpractice arena. This paper undertakes to provide practitioners and academics some perspective on clinical practice guidelines and their potential for medical-legal application.