Gynaecological Oncology, St John of God Hospital Bendat Family Comprehensive Cancer Centre, Perth, Western Australia, Australia.
Genetic Services of Western Australia, King Edward Memorial Hospital for Women Perth, Subiaco, Western Australia, Australia.
Int J Gynecol Cancer. 2019 Jul;29(6):1038-1042. doi: 10.1136/ijgc-2019-000389. Epub 2019 May 17.
Patients with non-mucinous epithelial tubo-ovarian cancers should be referred for genetic testing because approximately 15% will carry an inherited mutation in the cancer susceptibility genes. However, referral rates for genetic testing remain low. For patients who carry a mutation, failure to refer for genetic testing results in missed opportunities for therapy and prevention of future cancers in the patient and at-risk relatives. In Western Australia between July 2013 and June 2015, 40.6% of patients with non-mucinous epithelial tubo-ovarian cancers discussed at a statewide gynecologic oncology tumor board were referred for genetic testing. Our objective was to investigate the proportion of patients with non-mucinous epithelial tubo-ovarian cancers in Western Australia referred for testing from July 2015 to December 2017, following the introduction of mainstreaming and tele-counseling. A secondary aim was to compare the uptake of genetic testing between different genetic counseling modalities.
Retrospective case series. All patients with high-grade non-mucinous epithelial tubo-ovarian cancers discussed at the weekly Western Australian gynecologic oncology tumor board meeting, between July 1, 2015 and December 31, 2017, and those referred for mutation testing, were ascertained.
A total of 343 women were eligible for referral; 63 patients were excluded, leaving 280 patients for analysis. 220/280 patients were referred for genetic testing (78.6%). There were no differences in uptake of genetic testing by mode of genetic counseling.
A significant increase in referrals of eligible patients for genetic testing was observed in 2015-2017 compared with 2013-2014. Although there were no differences in uptake of genetic testing by mode of counseling, mainstreaming and tele-counseling provide alternative options for patients that may lead to higher uptake of genetic testing.
非黏液性上皮性输卵管-卵巢癌患者应接受遗传检测，因为约 15%的患者携带癌症易感基因的种系突变。然而，遗传检测的转诊率仍然很低。对于携带突变的患者，如果未能进行遗传检测转诊，将错失治疗机会，并导致患者和高危亲属未来癌症的发生。2013 年 7 月至 2015 年 6 月期间，西澳大利亚州的全州妇科肿瘤学肿瘤委员会讨论了 40.6%的非黏液性上皮性输卵管-卵巢癌患者，这些患者被转诊进行遗传检测。我们的目的是调查 2015 年 7 月至 2017 年 12 月期间，在引入主流化和远程咨询后，西澳大利亚州非黏液性上皮性输卵管-卵巢癌患者接受检测的比例。次要目的是比较不同遗传咨询模式下遗传检测的接受程度。
回顾性病例系列。在每周的西澳大利亚妇科肿瘤学肿瘤委员会会议上，对 2015 年 7 月 1 日至 2017 年 12 月 31 日期间讨论的所有高级别非黏液性上皮性输卵管-卵巢癌患者，以及那些被转诊进行种系突变检测的患者进行了确定。
共有 343 名女性符合转诊条件；排除了 63 名患者，剩下 280 名患者进行分析。280 名患者中有 220 名（78.6%）被转诊进行遗传检测。遗传咨询模式对遗传检测的接受程度没有差异。
与 2013-2014 年相比，2015-2017 年观察到符合条件的患者转诊进行遗传检测的比例显著增加。尽管遗传咨询模式对遗传检测的接受程度没有差异，但主流化和远程咨询提供了患者的替代选择，这可能导致遗传检测的接受程度更高。
