• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利:CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验

相似文献

1
Genetic Counseling Clinic at AIIMS (New Delhi).全印医学科学研究所(新德里)遗传咨询诊所
Indian J Surg Oncol. 2021 Apr;12(Suppl 1):30-33. doi: 10.1007/s13193-020-01054-1. Epub 2020 Apr 4.
2
Prophylactic Oophorectomy: Reducing the U.S. Death Rate from Epithelial Ovarian Cancer. A Continuing Debate.预防性卵巢切除术:降低美国上皮性卵巢癌死亡率。一场持续的争论。
Oncologist. 1996;1(5):326-330.
3
Genetic counseling can influence the course of a suspected familial cancer syndrome patient: from a case of Li-Fraumeni like syndrome with a germline mutation in the TP53 gene.遗传咨询可影响疑似家族性癌症综合征患者的病程:以一例携带TP53基因种系突变的李-佛美尼综合征样病例为例。
Korean J Lab Med. 2008 Dec;28(6):493-7. doi: 10.3343/kjlm.2008.28.6.493.
4
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性基因检测
J Clin Oncol. 2003 Jun 15;21(12):2397-406. doi: 10.1200/JCO.2003.03.189. Epub 2003 Apr 11.
5
Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial.基于计算机的决策辅助工具对乳腺癌易感性基因检测的知识、认知及意愿的影响:一项随机对照试验。
JAMA. 2004 Jul 28;292(4):442-52. doi: 10.1001/jama.292.4.442.
6
Pedigree and BRCA gene analysis in breast cancer patients to identify hereditary breast and ovarian cancer syndrome to prevent morbidity and mortality of disease in Indian population.对乳腺癌患者进行系谱和BRCA基因分析,以识别遗传性乳腺癌和卵巢癌综合征,预防印度人群中该疾病的发病和死亡。
Tumour Biol. 2017 Feb;39(2):1010428317694303. doi: 10.1177/1010428317694303.
7
BRCA1/2 testing in hereditary breast and ovarian cancer families: effectiveness of problem-solving training as a counseling intervention.遗传性乳腺癌和卵巢癌家族中的BRCA1/2检测:解决问题培训作为一种咨询干预措施的有效性
Am J Med Genet A. 2004 Oct 15;130A(3):221-7. doi: 10.1002/ajmg.a.30265.
8
A clinically structured and partnered approach to genetic testing in Trinidadian women with breast cancer and their families.特立尼达和多巴哥乳腺癌女性及其家族的临床结构化和合作式基因检测方法。
Breast Cancer Res Treat. 2019 Apr;174(2):469-477. doi: 10.1007/s10549-018-5045-y. Epub 2018 Dec 4.
9
TP53 p.R337H prevalence in a series of Brazilian hereditary breast cancer families.一系列巴西遗传性乳腺癌家族中TP53 p.R337H的患病率
Hered Cancer Clin Pract. 2014 Mar 13;12(1):8. doi: 10.1186/1897-4287-12-8.
10

本文引用的文献

1
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.直接面向消费者的基因检测产生的假阳性结果强调了为适当的患者护理进行临床确认检测的重要性。
Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38. Epub 2018 Mar 22.
2
Cost-effectiveness of Population-Based BRCA1, BRCA2, RAD51C, RAD51D, BRIP1, PALB2 Mutation Testing in Unselected General Population Women.基于人群的 BRCA1、BRCA2、RAD51C、RAD51D、BRIP1、PALB2 基因突变检测在未选择的普通人群女性中的成本效益。
J Natl Cancer Inst. 2018 Jul 1;110(7):714-725. doi: 10.1093/jnci/djx265.
3
National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer.有乳腺癌或卵巢癌病史女性的基因检测全国估计数。
J Clin Oncol. 2017 Dec 1;35(34):3800-3806. doi: 10.1200/JCO.2017.73.6314. Epub 2017 Aug 18.
4
Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.将生殖系基因检测纳入早期乳腺癌治疗决策过程中的差距。
J Clin Oncol. 2017 Jul 10;35(20):2232-2239. doi: 10.1200/JCO.2016.71.6480. Epub 2017 Apr 12.
5
Cancer Statistics, 2017.《2017 年癌症统计》
CA Cancer J Clin. 2017 Jan;67(1):7-30. doi: 10.3322/caac.21387. Epub 2017 Jan 5.
6
Increased Reach of Genetic Cancer Risk Assessment as a Tool for Precision Management of Hereditary Breast Cancer.扩大遗传性乳腺癌精准管理工具——遗传癌症风险评估的应用范围
JAMA Oncol. 2016 Jun 1;2(6):723-4. doi: 10.1001/jamaoncol.2015.5975.
7
Panel Testing for Familial Breast Cancer: Calibrating the Tension Between Research and Clinical Care.面板测试家族性乳腺癌:研究与临床护理之间的紧张关系的校准。
J Clin Oncol. 2016 May 1;34(13):1455-9. doi: 10.1200/JCO.2015.63.7454. Epub 2016 Jan 19.
8
Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors.通过研究确定的致癌基因中的临床显著种系突变应由遗传咨询师提供给研究参与者。
J Clin Oncol. 2016 Mar 20;34(9):898-901. doi: 10.1200/JCO.2015.60.9388. Epub 2016 Jan 19.
9
Genetic Counselors' Experiences Regarding Communication of Reproductive Risks with Autosomal Recessive Conditions found on Cancer Panels.遗传咨询师关于在癌症检测面板上发现的常染色体隐性疾病的生殖风险沟通的经历。
J Genet Couns. 2016 Apr;25(2):359-72. doi: 10.1007/s10897-015-9892-y. Epub 2015 Oct 10.
10
American Society of Clinical Oncology Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility.美国临床肿瘤学会政策声明更新:癌症易感性的遗传和基因组检测。
J Clin Oncol. 2015 Nov 1;33(31):3660-7. doi: 10.1200/JCO.2015.63.0996. Epub 2015 Aug 31.

全印医学科学研究所(新德里)遗传咨询诊所

Genetic Counseling Clinic at AIIMS (New Delhi).

作者信息

Maitra Dhritiman, Manek Payal, Gupta Neha, Srivastava Anurag

机构信息

Breast, Endocrine Surgery & General Surgery, AIIMS, New Delhi, India.

Genetic Counseling Clinic, AIIMS, New Delhi, India.

出版信息

Indian J Surg Oncol. 2021 Apr;12(Suppl 1):30-33. doi: 10.1007/s13193-020-01054-1. Epub 2020 Apr 4.

DOI:10.1007/s13193-020-01054-1
PMID:33994725
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8119545/
Abstract

The field of genetic counseling in India has enormously transformed over the past few years. Genetic counseling is a communication process which deals with the human problems associated with the occurrence or risk of occurrence of a genetic disorder in a family. Genetic counseling is not merely having a conversation based on genomic data. It addresses the "information needs" of a particular patient, and customizes a session according to each patient's individual circumstances, thereby aiding in decision-making. In 2012, AIIMS (New Delhi) became the first tertiary care center in North India to provide genetic counseling for cancer. Among 200 cases that were referred for genetic counseling to the AIIMS clinic at the Department of Surgical Disciplines, about 30% of patients chose to undergo testing. Five cases of BRCA1/2 mutation were found conforming to the hereditary breast and ovarian cancer syndrome. There was one case of TP53 mutation conforming to Li-Fraumeni syndrome. One case each of Xeroderma Pigmentosum (XP) and Cowden's syndrome was also detected. All these cases were offered risk-reducing measures and put under life-long surveillance as per protocol. Their family members were also offered genetic counseling and subsequent testing if they agreed. Cancer genetic counseling service was a new exercise, and hence, several challenges were faced. The clinical utility of genetic testing, coupled with counseling, should be established by trials. Documenting the achievements of counseling by surrogate parameters like "improved recruitment rate of patients for genetic tests" and "improved patient satisfaction levels" will go a long way in garnering the much needed institutional support.

摘要

在过去几年里,印度的遗传咨询领域发生了巨大变化。遗传咨询是一个交流过程,处理与家庭中遗传疾病发生或发生风险相关的人类问题。遗传咨询不仅仅是基于基因组数据进行对话。它满足特定患者的“信息需求”,并根据每个患者的具体情况定制咨询环节,从而辅助决策。2012年,全印医学科学研究所(新德里)成为印度北部第一家提供癌症遗传咨询的三级护理中心。在被转介到全印医学科学研究所外科各科室诊所进行遗传咨询的200例病例中,约30%的患者选择接受检测。发现5例符合遗传性乳腺癌和卵巢癌综合征的BRCA1/2突变病例。有1例符合李-佛美尼综合征的TP53突变病例。还检测到1例着色性干皮病(XP)和1例考登综合征病例。所有这些病例都按照方案提供了降低风险的措施,并进行终身监测。如果他们同意,其家庭成员也会接受遗传咨询及后续检测。癌症遗传咨询服务是一项新举措,因此面临了一些挑战。基因检测与咨询相结合的临床效用应通过试验来确立。通过“提高基因检测患者招募率”和“提高患者满意度”等替代参数记录咨询成果,将有助于获得急需的机构支持。