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提高妇科肿瘤患者的遗传咨询服务就诊率。

Improving attendance to genetic counselling services for gynaecological oncology patients.

作者信息

Pokharel Hanoon P, Hacker Neville F, Andrews Lesley

机构信息

1Gynaecologic Cancer Centre, Royal Hospital for Women, Sydney, Australia.

2School of Women's and Children's Health, University of New South Wales, Sydney, Australia.

出版信息

Gynecol Oncol Res Pract. 2018 Jan 10;5:2. doi: 10.1186/s40661-018-0059-z. eCollection 2018.

Abstract

BACKGROUND

Gynaecological cancers may be the sentinel malignancy in women who carry a mutation in BRCA1 or 2, a mis-match repair gene causing Lynch Syndrome or other genes. Despite published guidelines for referral to a genetics service, a substantial number of women do not attend for the recommended genetic assessment. The study aims to determine the outcomes of systematic follow-up of patients diagnosed with ovarian or endometrial cancer from Gynaecologic-oncology multidisciplinary meetings who were deemed appropriate for genetics assessment.

METHODS

Women newly diagnosed with gynaecological cancer at the Royal Hospital for Women between 2010 and 2014 (cohort1) and 2015-2016 (cohort 2) who were identified as suitable for genetics assessment were checked against the New South Wales/Australian Capital Territory genetic database. The doctors of non-attenders were contacted regarding suitability for re-referral, and patients who were still suitable for genetics assessment were contacted by mail. Attendance was again checked against the genetics database.

RESULTS

Among 462 patients in cohort 1, flagged for genetic assessment, 167 had not consulted a genetic service at initial audit conducted in 2014. 86 (18.6%) women whose referral was pending clarification of family history and/or immunohistochemistry did not require further genetic assessment. Letters were sent to 40 women. 7 women (1.5%) attended hereditary cancer clinic in the following 6 months.The audit conducted in 2016 identified 148 patients (cohort 2) appropriate for genetic assessment at diagnosis. 66 (44.6%) had been seen by a genetics service, 51 (34.5%) whose referral was pending additional information did not require further genetic assessment. Letters were sent to 15 women, of whom 9 (6.1%) attended genetics within 6 months.

CONCLUSIONS

To improve the effectiveness of guidelines for the genetic referral of women newly diagnosed with ovarian cancer, clinicians need to obtain a thorough family history at diagnosis; arrange for reflex MMR IHC according to guidelines; offer BRCA or panel testing to all women with non-mucinous ovarian cancer prior to discharge and systematically follow up all women referred to genetics at the post-op visit.

摘要

背景

对于携带BRCA1或2基因突变、导致林奇综合征的错配修复基因或其他基因发生突变的女性而言,妇科癌症可能是前哨恶性肿瘤。尽管已发布了转诊至遗传学服务机构的指南,但仍有相当数量的女性未接受推荐的基因评估。本研究旨在确定在妇科肿瘤多学科会议上被认为适合进行基因评估的卵巢癌或子宫内膜癌确诊患者的系统随访结果。

方法

对2010年至2014年(队列1)以及2015年至2016年(队列2)期间在皇家妇女医院新诊断为妇科癌症且被确定适合进行基因评估的女性,对照新南威尔士州/澳大利亚首都直辖区基因数据库进行核查。就再次转诊的适宜性与未就诊者的医生进行联系,对仍适合进行基因评估的患者通过邮件进行联系。再次对照基因数据库检查就诊情况。

结果

在队列1中被标记进行基因评估的462例患者中,2014年进行初次审核时,有167例未咨询过遗传学服务机构。86例(18.6%)转诊待家族史和/或免疫组化结果明确的女性无需进一步的基因评估。已向40例女性发送信件。7例(1.5%)女性在接下来的6个月内就诊于遗传性癌症门诊。2016年进行的审核确定了148例(队列2)在诊断时适合进行基因评估的患者。66例(44.6%)已接受遗传学服务机构的诊治,51例(34.5%)转诊待补充信息的患者无需进一步的基因评估。已向15例女性发送信件,其中9例(6.1%)在6个月内就诊于遗传学门诊。

结论

为提高新诊断卵巢癌女性基因转诊指南的有效性,临床医生在诊断时需要获取详尽的家族史;根据指南安排反射性错配修复免疫组化检测;在出院前为所有非黏液性卵巢癌女性提供BRCA或基因组合检测,并在术后随访时对所有转诊至遗传学门诊的女性进行系统随访。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/85e2/5763520/9eb34c71b652/40661_2018_59_Fig1_HTML.jpg

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