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.
级联基因检测与监测可降低林奇综合征的发病率和死亡率。然而，家族内部遗传病信息传递障碍导致基因检测接受率偏低。医疗服务提供者介入干预可能提高检测接受率，但会引发法律与伦理争议。本研究基于丹麦遗传性非息肉病性结直肠癌（HNPCC）登记系统，总结三十年来在林奇综合征家族中结合家族传递与医疗系统传递两种模式的级联基因检测经验。通过比较接收医疗系统信息函件的家族成员（医疗系统传递模式）与未接收此类函件仅依靠家族内部传递的成员，旨在评估信息函件的附加价值。同时系统阐述丹麦级联基因检测的临床实践体系，包括基础设施、法律法规、社会接受度及信息函件管理机制。研究显示每个家族平均增加7.3次基因检测。家族传递模式下的基因检测接受率为54.4%，医疗系统传递模式达64.9%，比值比为1.8（p<0.001）。家族确诊林奇综合征后的第一年检测接受率最高，医疗系统传递模式下达72.5%。研究表明，丹麦结合家族与医疗系统双轨传递的模式能有效提升级联基因检测实施效果。
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