Anderson Nassim, Delavar Arash, Friedman Danielle Novetsky, Joseph Vijai, Mubdi Nidha, Oeffinger Kevin C, Sklar Charles A, Offit Kenneth, Matasar Matthew, Raghunathan Nirupa, Antal Zoltan, Straus David, Walsh Michael, Latham Alicia, Tonorezos Emily S
Memorial Sloan Kettering Cancer Center, New York, NY, USA.
School of Medicine, University of California San Diego, La Jolla, CA, USA.
J Community Genet. 2020 Oct;11(4):501-504. doi: 10.1007/s12687-020-00478-0. Epub 2020 Jul 16.
We describe utilization of clinical genetic services among survivors of childhood and young adult cancer after participation in a genetic registry. Clinical genetic counselors flagged 162 out of 1069 pedigrees (15.2%) as suggestive of inheritable cancer susceptibility, resulting in 126 (11.8%) referral letters. Following delivery of the referral letters, 19 (15.1%) participants completed clinical genetic counseling, 16 (12.7%) received testing, and four (3.2%) were found to have actionable results. Our results suggest a discordance between reported willingness to undergo genetic counseling and real-world utilization.
我们描述了参与基因登记后儿童和青年癌症幸存者对临床基因服务的利用情况。临床基因咨询师在1069个家系中标记出162个（15.2%）提示存在可遗传的癌症易感性，从而发出了126封（11.8%）转诊信。在发出转诊信后，19名（15.1%）参与者完成了临床基因咨询，16名（12.7%）接受了检测，4名（3.2%）被发现有可采取行动的结果。我们的结果表明，报告的接受基因咨询的意愿与实际利用情况之间存在不一致。
