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西班牙多中心队列中接受BRCA1/2基因检测的个体对生殖决策的看法。

Opinion about reproductive decision making among individuals undergoing BRCA1/2 genetic testing in a multicentre Spanish cohort.

作者信息

Fortuny Daniel, Balmaña Judith, Graña Begoña, Torres Asunción, Ramón y Cajal Teresa, Darder Esther, Gadea Neus, Velasco Angela, López Consol, Sanz Judit, Alonso Carmen, Brunet Joan

机构信息

Medical Oncology Department, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona, Spain.

出版信息

Hum Reprod. 2009 Apr;24(4):1000-6. doi: 10.1093/humrep/den471. Epub 2008 Dec 26.

Abstract

BACKGROUND

Mutations in breast cancer BRCA1/2 genes increase breast and ovarian cancer risk and are transmitted with an autosomal dominant pattern. Opinion about reproductive decisions among individuals undergoing BRCA1/2 testing in our institutions is unknown.

MATERIALS AND METHODS

Individuals (n = 77) undergoing BRCA1/2 testing were included in a prospective multicentre study to assess the clinical impact of genetic testing. Demographic and clinical information, psychological status and opinion about reproductive decisions were collected in two questionnaires administered prior to testing. Opinion regarding the use of assisted reproduction techniques for hereditary cancer susceptibility among health care professionals was also collected.

RESULTS

Twenty-eight individuals (36%) reported that they would decide to have children, regardless of their result. In case of a mutation, 9 (12%) believed that they would decide not to have children, 42 (55%) would consider prenatal diagnosis (PND), 37 (48%) would consider preimplantation genetic diagnosis (PGD) and 23 (30%) would consider adoption. Fifty-seven (74%) and 47 (61%) reported that they considered it ethical to offer PND or PGD, respectively, to BRCA+ patients. Individuals older than 40 years were more likely to consider PND or PGD than younger subjects (P = 0.02 and 0.05, respectively). Individuals with cancer compared with those without a diagnosis of malignancy were more likely to consider PGD (61 versus 30%, P = 0.02) and to consider that it was ethical to offer it (74 versus 44%, P = 0.02). Most health care professionals were in favour of PND and PGD for individuals with hereditary cancer susceptibility (58 and 61%, respectively).

CONCLUSIONS

BRCA1/2 genetic results could influence an individual's decisions regarding reproduction. Health care professionals who serve individuals undergoing BRCA testing should incorporate patient education regarding the potential impact of such testing on family planning.

摘要

背景

乳腺癌BRCA1/2基因的突变会增加患乳腺癌和卵巢癌的风险,并以常染色体显性模式遗传。在我们机构中,接受BRCA1/2检测的个体对生殖决策的看法尚不清楚。

材料与方法

接受BRCA1/2检测的个体(n = 77)被纳入一项前瞻性多中心研究,以评估基因检测的临床影响。在检测前通过两份问卷收集人口统计学和临床信息、心理状态以及对生殖决策的看法。还收集了医疗保健专业人员对遗传性癌症易感性患者使用辅助生殖技术的看法。

结果

28名个体(36%)表示,无论检测结果如何,他们都会决定要孩子。如果检测出突变,9名(12%)认为他们会决定不要孩子,42名(55%)会考虑产前诊断(PND),37名(48%)会考虑植入前基因诊断(PGD),23名(30%)会考虑收养。57名(74%)和47名(61%)分别表示,他们认为为BRCA阳性患者提供PND或PGD是符合伦理道德的。40岁以上的个体比年轻个体更有可能考虑PND或PGD(分别为P = 0.02和0.05)。与未被诊断为恶性肿瘤的个体相比,患有癌症的个体更有可能考虑PGD(61%对30%,P = 0.02),并认为提供PGD是符合伦理道德的(74%对44%,P = 0.02)。大多数医疗保健专业人员支持为遗传性癌症易感性个体提供PND和PGD(分别为58%和61%)。

结论

BRCA1/2基因检测结果可能会影响个体的生殖决策。为接受BRCA检测的个体提供服务的医疗保健专业人员应开展患者教育,告知此类检测对计划生育的潜在影响。

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