Attitudes Regarding Prenatal and Preimplantation Genetic Diagnosis For Inherited

对遗传性产前和植入前基因诊断的态度

• 批准号: 7685523
• 负责人: Lisa Robyn Rubin
• 金额: $ 7.73万
• 依托单位: NEW SCHOOL UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2008
• 资助国家: 美国
• 起止时间: 2008-09-12 至 2011-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7685523
• 关键词: Address; Adult; Affect; Age; American; American Society of Clinical Oncology; Amniocentesis; Assisted Reproductive Technology; Attitude; Autosomal Dominant Polycystic Kidney; Awareness; Belief; Bioethics Consultants; Breast; Child; Childhood; Chorionic Villi Sampling; Clinical; Consensus; Coupled; Couples; Data; Development; Diagnostic Procedure; Disease; Education; Embryo; Emotional; Ensure; Environment; Ethics; Family; Family Planning; Fetus; Future; Gene Mutation; Genetic; Genetic Counseling; Genetic screening method; Genetic testing for cancer risk; Goals; Guidelines; Health; Health Professional; Hereditary Breast and Ovarian Cancer Syndrome; Hereditary Disease; Hereditary Malignant Neoplasm; Hereditary Neoplastic Syndromes; Human Genetics; Huntington Disease; Individual; Informed Consent; Inherited; Interview; Investigation; Knowledge; Malignant Neoplasms; Malignant neoplasm of ovary; Mental Health; Morbidity - disease rate; Mutation; Participant; Patients; Physicians; Policies; Population; Practice Guidelines; Predisposition; Preimplantation Diagnosis; Prenatal Diagnosis; Procedures; Professional Practice; Professional counselor; Protocols documentation; Qualitative Research; Questionnaires; Reproductive Medicine; Reproductive Technology; Research; Research Personnel; Role; Selective Abortion; Shapes; Societies; Structure; Subgroup; Survival Rate; Syndrome; Techniques; Technology; Testing; Translations; United States; Uterus; Work; assisted reproduction; cancer risk; cancer therapy; child bearing; clinical practice; early onset; ethical legal social implication; experience; genetic technology; improved; in vitro testing; innovation; interest; meetings; member; mortality; mutation carrier; patient oriented; prenatal; public health relevance; reproductive; social; theories; trend; uptake

DESCRIPTION (provided by applicant): A significant proportion of patients who pursue testing for BRCA gene alterations are of reproductive age. Many are actively engaged in decisions about family planning or will be in the future. A prime concern of this population is minimizing the impact of hereditary cancer on their children. Genetically-enhanced assisted reproductive technologies (ART), such as preimplantation genetic diagnosis (PGD), as well as prenatal diagnosis (PND) followed by consideration of selective abortion, may enable individuals and couples to avoid passing genetic mutations on to their children. However, their use for later onset, potentially treatable or preventable conditions such as hereditary breast/ovarian cancer, raises new ethical and social questions and concerns. The objective of this investigation is to explore BRCA1/2 mutation carriers' attitudes towards the use of PND and PGD. The investigators seeks (1) to develop a patient-centered understanding of the benefits and drawbacks of PND/PGD, (2) to explore the ethical and social acceptability of each technology to screen for BRCA1/2 mutations, and (3) to elicit patient opinions about the presentation of ART in genetic counseling. Approximately 30 BRCA mutation carriers of reproductive age will be presented a brief, standardized educational presentation on reproductive options for BRCA gene alteration carries, including discussion of PND/PGD followed by an in-depth, semi-structured interview addressing childbearing plans, and attitudes towards the use of PND and PGD to screen for BRCA gene alterations. Participants will also complete a brief questionnaire before and after the education session to assess awareness (pre) and understanding of core concepts (post). A team of qualitative research experts will analyze interview data using grounded theory techniques. Findings will contribute to the current ongoing debate among clinical genetics and associated professionals regarding the role of ART in managing the impact of BRCA1/2 alterations on patients and their families. At present, there is considerable interest and concern about the integration of ARTs and genetic technologies, particularly PGD of late onset, treatable disease (cancer) in the United States, where the regulatory environment (or lack thereof) raises special concerns. Members of the research team have been active in the past decade in building consensus and shaping policy regarding use of genetic testing for cancer risk. Our future plans for research include a parallel study of genetic counselor's attitudes regarding PND/PGD for BRCA, assessing their experience with patients considering these procedures and their ideas about whether and how reproductive options should be integrated into genetic counseling sessions. The current study, coupled with a complementary study of genetic counselors, will be disseminated through the team's participation in key organizations such as the American Society of Human Genetics (ASHG, National Society for Genetic Counseling (NSGC), American Society for Clinical Oncology (ASCO) and others that have a stake in developing professional and informed consent guidelines regarding the use of ART for adult onset cancer syndromes. PUBLIC HEALTH RELEVANCE: The study aims to elicit BRCA1/2 gene mutation carriers' attitudes towards the use assisted reproductive technologies (ART) to screen for BRCA mutations, focusing specifically on beliefs about their ethical and social acceptability. This study meets ELSI's goal of studying the translation of genetic technologies into improved health. Findings from this study will inform development of professional guidelines regarding the use of genetically-enhanced ART for adult onset hereditary cancer syndromes, and may provide physicians, genetic counselors and mental health professionals with a template for discussing deeply personal and highly emotional decisions about assisted reproduction.

描述（由申请人提供）：进行 BRCA 基因改变检测的患者中有很大一部分处于育龄期。许多人正在积极参与或将来参与计划生育的决策。该人群最关心的问题是尽量减少遗传性癌症对孩子的影响。基因增强辅助生殖技术（ART），例如植入前基因诊断（PGD）以及产前诊断（PND），然后考虑选择性堕胎，可以使个人和夫妇避免将基因突变遗传给孩子。然而，它们用于治疗晚发、可能可治疗或可预防的疾病，如遗传性乳腺癌/卵巢癌，引发了新的伦理和社会问题和担忧。本调查的目的是探讨BRCA1/2突变携带者对PND和PGD使用的态度。研究人员寻求 (1) 以患者为中心了解 PND/PGD 的优点和缺点，(2) 探索每种筛查 BRCA1/2 突变的技术的伦理和社会可接受性，以及 (3) 引出患者对遗传咨询中 ART 表达的看法。大约 30 名育龄 BRCA 突变携带者将接受关于 BRCA 基因改变携带者生殖选择的简短标准化教育演示，包括 PND/PGD 讨论，随后进行深入的半结构化访谈，讨论生育计划以及对生育计划的态度使用 PND 和 PGD 筛选 BRCA 基因改变。参与者还将在教育课程之前和之后填写一份简短的调查问卷，以评估对核心概念的认识（前）和理解（后）。定性研究专家团队将使用扎根理论技术分析访谈数据。研究结果将有助于临床遗传学和相关专业人士当前关于 ART 在控制 BRCA1/2 改变对患者及其家人的影响方面的作用的争论。目前，人们对 ART 与基因技术的整合产生了相当大的兴趣和担忧，特别是在美国，晚发性可治疗疾病（癌症）的 PGD，其监管环境（或缺乏监管环境）引起了特别关注。在过去的十年中，研究团队的成员一直积极致力于就使用基因检测来检测癌症风险建立共识并制定政策。我们未来的研究计划包括对遗传咨询师对 BRCA PND/PGD 的态度进行平行研究，评估他们与考虑这些程序的患者的经验以及他们对是否以及如何将生殖选择纳入遗传咨询课程的想法。目前的研究，加上遗传咨询师的补充研究，将通过该团队参与美国人类遗传学学会（ASHG）、国家遗传咨询学会（NSGC）、美国临床肿瘤学会（ASCO）等关键组织来传播）以及其他与制定关于使用 ART 治疗成人发病癌症综合征的专业和知情同意指南相关的利益相关者：该研究旨在引出 BRCA1/2 基因。突变携带者对使用辅助生殖技术 (ART) 筛查 BRCA 突变的态度，特别关注其伦理和社会可接受性的信念。这项研究符合 ELSI 的研究结果，即研究基因技术转化为改善健康的效果。将为制定有关使用基因增强的 ART 治疗成人遗传性癌症综合征的专业指南提供信息，并可能为医生、遗传咨询师和心理健康专业人员提供一个模板，用于讨论有关辅助治疗的深入个人和高度情绪化的决定繁殖。