Genetic testing in relatives of individuals with Lynch syndrome is of utmost importance for targeted screening and prevention. A recent systematic review suggests that the uptake of testing in at-risk relatives is inadequate and therefore the cost-effectiveness of Lynch syndrome testing is questionable. The results of this study are discussed here.
This is a preview of subscription content, log in via an institution to check access.
References
Recommendations from the EGAPP Working Group: genetic testing strategies in newly diagnosed individuals with colorectal cancer aimed at reducing morbidity and mortality from Lynch syndrome in relatives. Genet. Med. 11, 35–41 (2009).
Bellcross, C. A. et al. Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genet. Med. 14, 152–162 (2012).
Mvundura, M., Grosse, S. D., Hampel, H. & Palomaki, G. E. The cost-effectiveness of genetic testing strategies for Lynch syndrome among newly diagnosed patients with colorectal cancer. Genet. Med. 12, 93–104 (2010).
Sharaf, R. N., Myer, P., Stave, C. D., Diamond, L. C. & Ladabaum, U. Uptake of genetic testing by relatives of Lynch Syndrome probands: a systematic review. Clin. Gastroenterol. Hepatol. http://dx.doi.org/10.1016/j.cgh.2013.04.044.
Aktan-Collan, K. et al. Predictive genetic testing for hereditary non-polyposis colorectal cancer: uptake and long-term satisfaction. Int. J. Cancer 89, 44–50 (2000).
University of California at San Francisco. Lynch Syndrome Kintalk@UCSF [online], (2013).
Lynch Syndrome International. Lynch Syndrome International [online], (2013).
GINA Genetic Information Nondiscrimination Act [online], (2013).
Genetic Alliance, the Genetics and Public Policy Center at the Johns Hopkins University, and the National Coalition for Health Professional Education in Genetics through funding by The Pew Charitable Trusts. National Human Genome Research Institute. The Genetic Information Nondiscrimination Act (GINA) of 2008 [online], (2012).
Lapointe, J. et al. Life events may contribute to family communication about cancer risk following BRCA1/2 testing. J. Genet. Couns. 22, 249–257 (2013).
Author information
Authors and Affiliations
Ethics declarations
Competing interests
The author declares no competing financial interests.
Rights and permissions
About this article
Cite this article
Jasperson, K. Cascade genetic testing in Lynch syndrome: room for improvement. Nat Rev Gastroenterol Hepatol 10, 506–508 (2013). https://doi.org/10.1038/nrgastro.2013.122
Published:
Issue Date:
DOI: https://doi.org/10.1038/nrgastro.2013.122
- Springer Nature Limited
This article is cited by
-
Uptake and predictors of colonoscopy use in family members not participating in cascade genetic testing for Lynch syndrome
Scientific Reports (2020)
-
The uptake of presymptomatic genetic testing in hereditary breast-ovarian cancer and Lynch syndrome: a systematic review of the literature and implications for clinical practice
Familial Cancer (2019)
-
How Can We Reach At-Risk Relatives? Efforts to Enhance Communication and Cascade Testing Uptake: a Mini-Review
Current Genetic Medicine Reports (2018)