Ethical, Legal & Social Issues
JNCCN Point/Counterpoint papers: Hampel H. Point: Justification for Lynch Syndrome screening among all patients with newly diagnosed colorectal cancer. JNCCN. 2010;8:597-601. [Abstract]
Hall MJ. Counterpoint: Implementing population genetic screening for Lynch Syndrome among newly diagnosed colorectal cancer patients – will the ends justify the means? JNCCN. 2010;8:606-611. [Abstract]
Hampel’s central argument to justify universal screening is that clinical and/or histologic criteria alone will miss a substantial number of Lynch Syndrome cases; moreover, since IHC has been shown to be cost effective, there is no need to undertake a restrictive approach to screening patients for LS. As 1 in every 35 patients with CRC has Lynch Syndrome, it is critical to properly identify such individuals not only because there may be treatment implications, but because each affected individual is likely to have several relatives who can then be offered genetic counseling and testing, as well as surveillance measures that may result in fewer cancer deaths.
Hall’s counterpoint disputes some assumptions about the cost-effectiveness and positive health outcomes associated with the identification of individuals with Lynch Syndrome (based on data published through 2010). The author also raises concerns about the need for informed consent for CRC patients whose tumors are screened as part of a universal testing program, and the implications for patients if they are not properly informed about this process, as well as the potential psychosocial, financial, and medical issues they may face upon receiving abnormal tumor screening result.
Cragun D, Malo TL, Pal T, et al. Colorectal cancer survivors’ interest in genetic testing for hereditary cancer: implications for universal tumor screening. Genet Test Mol Biomarkers. 2012;16:493-499. [Abstract]
Among a cross-sectional study of 91 CRC patients at a comprehensive cancer center in Florida who had never received genetic counseling/testing for LS, 67% were interested in germline genetic testing. In logistic regression analyses, the two factors associated with such interest were belief that testing was warranted based on their personal/family history and favorable attitudes about utility of testing for medical decision-making. Results from this exploratory study suggest factors that could be highlighted when educating patients about the rationale for and implications of universal testing.