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）：在进行BRCA基因改变测试的患者中，很大一部分是生殖年龄。许多人积极参与有关计划生育的决定，或者将来将来。该人群的主要关注点是最大程度地减少遗传癌对孩子的影响。遗传增强的辅助生殖技术（ART），例如植入前遗传诊断（PGD），以及产前诊断（PND），然后考虑选择性流产，可以使个人和夫妻避免将遗传突变传递给孩子。但是，它们用于以后发作，可能治疗或可预防的疾病，例如遗传性乳腺/卵巢癌，提出了新的道德和社会问题和关注点。这项研究的目的是探索BRCA1/2突变携带者对使用PND和PGD的态度。调查人员寻求（1）以患者为中心的理解PND/PGD的益处和缺点，（2）探索每种技术的道德和社会可接受性，以筛选BRCA1/2突变的筛查，以及（3）引起有关遗传咨询中艺术表现的患者意见。大约30个BRCA生殖年龄突变载体将进行简短的标准化教育演讲，内容涉及BRCA基因改动的生殖选择，包括讨论PND/PGD的讨论，然后进行深入的，半结构化的访谈，以解决PND和PGD的使用，以解决PND和PGD的态度，以筛选BRCA Gene Alterations。参与者还将在教育会议之前和之后完成一份简短的问卷，以评估对核心概念（邮政）的认识和理解。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员目前正在进行的关于艺术在管理BRCA1/2改变对患者及其家人的影响方面的作用的辩论。目前，人们对艺术和遗传技术的整合，特别是发病的PGD，可治疗疾病（癌症）的兴趣和关注，在美国，监管环境（或缺乏）引起了特殊问题。研究小组的成员在过去十年中一直活跃于建立共识和塑造基因测试来实现癌症风险的政策。我们的未来研究计划包括对遗传顾问对BRCA的PND/PGD的态度的平行研究，评估他们在考虑这些程序的患者方面的经验及其对是否应该以及如何将生殖方案纳入遗传咨询会议中的观念。当前的研究以及对遗传咨询师的补充研究，将通过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），ASCO（ASCO）和其他对发展专业和知情的成人癌症的研究中的疾病，诸如美国人类遗传学学会（ASHG，国家遗传咨询学会（NSGC））等关键组织的分解。引起BRCA1/2基因突变携带者对使用的态度有助于生殖技术（ART），以筛选BRCA突变，专门针对其道德和社会接受的信念，这是Elsi的目标。综合症，可能会为医生，遗传咨询师和心理健康专业人员提供一个模板，以讨论有关辅助复制的深入个人和高度情感的决定。