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.
Chubak B, Heald B, Sharp RR. Informed consent to microsatellite instability and immunohistochemistry screening for Lynch Syndrome. Genet Med. 2011;13:356-360. [Abstract]
Letter to the Editor: Williams JL, Williams MS. Informed consent and immunohistochemistry screening for Lynch Syndrome. Genet Med. 2011;13;848-849. [Abstract]
Chubak et al. conclude that there is no ethical obligation to obtain informed consent from patients who undergo universal CRC tumor screening with MSI, comparing to other routine tests in oncology such as receptor typing in breast cancer, and that it characterizes only the tumor, not the germline. However, the authors argue that informed consent for IHC testing may be considered because such testing is strongly predictive of germline abnormalities and is more similar to a traditional genetic test. The authors acknowledge that obtaining consent for universal IHC testing would represent a deviation from standard practices and research is needed to understand the implications of population-based testing. The authors recommend that newly diagnosed CRC patients should be prepared for and educated about the tests performed and possible follow-up that may ensure if results are abnormal.
Responding to the article, the letter to the editor reported on the authors’ experience implementing universal screening with IHC within Intermountain Healthcare. After thorough exploration and discussion the issues, the group screened more than 200 patients and provided educational materials and an “opt out” option instead of formal informed consent. Based on their program’s positive experiences, the authors concluded that informed consent is not required for IHC screening, but that further empirical studies should be undertaken.
Manne SL, Meropol NJ, Weinberg DS, et al. Facilitating informed decisions regarding microsatellite instability testing among high-risk individuals diagnosed with colorectal cancer. J Clin Oncol. 2012:28:1366-1372. [Abstract]
Hall MJ, Manne SL, Winkel G, et al. Effects of a decision support intervention on decisional conflict associated with microsatellite instability testing. Cancer Epidemiol Biomark Prev. 2011;20:249-254. [Abstract]
These two studies, performed by the same group, assessed the effect of informational interventions in more than 200 newly diagnosed CRC patients meeting Bethesda criteria. Participants were randomized to receive a brief education session with a health educator (E) or E plus a CD-ROM decision aid to address issues related to MSI and IHC testing. The E + CD-ROM participants had significantly increased knowledge about testing, and had an improved experience in multiple domains with respect to decision making about testing, and the intervention did not adversely affect psychological outcomes. Since more than 90% of participants consented to the tumor test, and there was no control group in the study, it is not possible to conclude what effect the interventions had on test uptake. However, the authors conclude that a multimedia-based intervention may be a valuable adjunct to the informed consent process and may facilitate informed decision making about taking the test.
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.