부산대학교 도서관

Simple Summary: Cascade genetic testing is crucial for families with hereditary cancer syndromes like Lynch syndrome, where clinically established surveillance programs reduce illness and death. However, communicating genetic information within families faces barriers, with only a small uptake of genetic testing in family members informed through family-mediated contact. Provider-mediated interventions via letter or phone call increase testing uptake but raise legal and ethical concerns. We describe 30 years of national experience with cascade testing using unsolicited letters, covering administration, legislation, public attitudes, and testing rates. Our approach resulted in an average of 7.3 additional tests per family. Overall uptake of genetic testing was 54.4% after family-mediated and 64.9% after provider-mediated contact by letter. The uptake of genetic testing was highest in the first year after diagnosis of Lynch syndrome in the family, with 72.5% tested after provider-mediated contact. We propose a model for cascade genetic testing combining family- and provider-mediated contact. Cascade genetic testing and surveillance reduce morbidity and mortality in Lynch syndrome. However, barriers to conveying information about genetic disorders within families result in low uptake of genetic testing. Provider-mediated interventions may increase uptake but raise legal and ethical concerns. We describe 30 years of national experience with cascade genetic testing combining family- and provider-mediated contact in Lynch syndrome families in the Danish Hereditary Non-Polyposis Colorectal Cancer (HNPCC) Register. We aimed to estimate the added value of information letters to family members in Lynch syndrome families (provider-mediated contact) compared to family members not receiving such letters and thus relying on family-mediated contact. National clinical practice for cascade genetic testing, encompassing infrastructure, legislation, acceptance, and management of the information letters, is also discussed. Cascade genetic testing resulted in 7.3 additional tests per family. Uptake of genetic testing was 54.4% after family-mediated and 64.9% after provider-mediated contact, corresponding to an odds ratio of 1.8 (p < 0.001). The uptake of genetic testing was highest in the first year after diagnosis of Lynch syndrome in the family, with 72.5% tested after provider-mediated contact. In conclusion, the Danish model combining family- and provider-mediated contact can increase the effect of cascade genetic testing. [ABSTRACT FROM AUTHOR]