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Familial Cancer

, Volume 7, Issue 1, pp 65–72 | Cite as

Standards of care in diagnosis and testing for hereditary colon cancer

  • Patrick M. Lynch
Article

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.

Keywords

Hereditary Non-polyposis Colorectal Cancer (HNPCC) Lynch syndrome Familial Adenomatous Polyposis (FAP) Genetic counseling Predisposition testing for cancer susceptibility Standards of care Medical malpractice 

References

  1. 1.
    Offitt K, Groeger E, Turner S et al (2004) The “duty to warn” a patient’s family members about hereditary disease risks. JAMA 292:1469–1473CrossRefGoogle Scholar
  2. 2.
    Winawer S, Fletcher R, Rex D et al (2003) American Gastroenterological Assn: colorectal cancer screening and surveillance: clinical guidelines and rationale—update based on new evidence. Gastroenterology 124:544–560PubMedCrossRefGoogle Scholar
  3. 3.
    Hyams AL, Brandenburg JA, Lipsitz SR et al (1995) Practice guidelines and malpractice litigation: a two-way street. Ann Int Med 122:450–455PubMedGoogle Scholar
  4. 4.
    Pelly JE, Newby L, Tito F et al (1998) Clinical practice guidelines before the law: sword or shield? Med J Aust 169:348–349Google Scholar
  5. 5.
    Petch MC (2005) Heart disease, guidelines, regulations, and the law. Heart 87:472–479CrossRefGoogle Scholar
  6. 6.
    Hurwitz B (2004) How does evidence based guidance influence determinations of medical negligence. BMJ 329:1024–1028PubMedCrossRefGoogle Scholar
  7. 7.
    Safer v Estate of Pack, 291 NJ Super 619; 677 A 2d 1188, 1996 (NJ 1996)Google Scholar
  8. 8.
    Jarvinen HJ (2003) Genetic testing for polyposis: practical and ethical aspects. Gut 52:19–222CrossRefGoogle Scholar
  9. 9.
    Trepanier A, Ahrens M, McKinnon W et al (2004) Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. J Genet Couns 13:83–114PubMedCrossRefGoogle Scholar
  10. 10.
    Lindor NM, Petersen GM, Hudley DW et al (2006) Recommendation for the care of individuals with an inherited predisposition to Lynch Syndrome. JAMA 296:1507–1517PubMedCrossRefGoogle Scholar
  11. 11.
    Burke W, Petersen G, Lynch P et al (1997) Recommendations for follow-up care of individuals with an inherited predisposition to cancer. I. Hereditary nonpolyposis colon cancer. Cancer genetics studies consortium. JAMA 277(11):915–919PubMedCrossRefGoogle Scholar
  12. 12.
    Samanta A, Samanta J, Gunn M (2003) Legal considerations of clinical guidelines: will NICE make a difference? J R Soc Med 96:133–138PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science + Business Media B.V. 2007

Authors and Affiliations

  1. 1.Department of Gastrointestinal Medicine & Nutrition – 436The University of Texas M. D. Anderson Cancer CenterHoustonUSA

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