PGD: Couples Decision Making at the Genetic and Reproductive Interface

描述（由申请人提供）：人类遗传学和辅助生殖的进展已显着扩大，最近包括植入前遗传诊断（PGD）的创新选择。这种相对较新的遗传筛查形式通过在确定子宫植入和怀孕之前确定遗传疾病或染色体重排来规避常规形式的产前诊断。夫妇一方或双方都是遗传疾病的携带者可能会受益于使用PGD，因为他们避免了在接受不利的产前诊断后是否终止妊娠的困难决定。尽管有这种好处，但使用PGD也有许多缺点，包括需要体外受精，潜在的误诊，经济费用，多余胚胎的可能性以及面临残疾预防的基本价值。尽管有这些深远的考虑，很少有人知道周围PGD使用夫妇的决策过程。本研究的目的是发展一个初步的理论认识的决策过程的夫妇谁最近接受或拒绝使用PGD的儿童遗传性疾病，并评估和完善招聘和方法程序，准备一个更大的研究。扎根理论设计将指导这项探索性研究。招募20对夫妇将通过三种方式进行：一个大型城市不孕不育中心、互联网网站和由国家认可的支持小组分发的区域通讯。由一对男女组成的夫妇将独立于他们的伴侣接受采访。深入的，开放式的访谈将通过电话或电子邮件与每一位参与者在三个月内完成，从医生咨询有关PGD的时间。从访谈中得出的概念将被分为几类，反映了数据中的含义，这些数据最终将被整合，以开发围绕PGD使用的动态决策过程的初步理论描述。研究结果还将指导一项计划中的更大规模研究的发展，该研究将更深入地研究夫妇围绕PGD的决策过程，并将协助制定专业指南，为公共卫生政策提供信息，并促进对其他新兴领域的理解。 公共卫生相关性：胚胎植入前遗传学诊断（PGD）是一个关键的社会和公共卫生问题，我们现有的观点和期望受到挑战，我们认为遗传技术和生殖的方式。本研究将探讨接受或拒绝使用PGD识别儿童遗传疾病的夫妇的决策过程。这些发现将帮助我们了解基因检测和生殖技术涉及时的二元决策，并将指导未来的研究，并开始塑造临床实践，专业指南和公共卫生政策。

DESCRIPTION (provided by applicant): Advances in human genetics and assisted reproduction have expanded dramatically and most recently includes the innovative option of Preimplantation Genetic Diagnosis (PGD). This relatively new form of genetic screening circumvents conventional forms of prenatal diagnosis by identifying genetic disorders or chromosomal rearrangements prior to establishing uterine implantation and establishment of pregnancy. Couples where one or both partners are carriers of genetic disorders may benefit from using PGD because they avoid the difficult decision of whether or not to terminate a pregnancy after receiving an unfavorable prenatal diagnosis. Despite this benefit, there are multiple disadvantages of using PGD including the need for in vitro fertilization, potential misdiagnosis, financial expense, potential for supernumerary embryos and confronting fundamental values of disability prevention. Despite these far reaching considerations, little is known about the decision making processes of couples surrounding PGD use. The purpose of this study is to develop an initial theoretical understanding of the decision making process of couples who have recently accepted or declined the use of PGD for childhood genetic disorders and to evaluate and refine recruitment and methodological procedures to prepare for a larger study. Grounded theory design will guide this exploratory study. Recruitment of 20 couples will proceed through three approaches: a large urban infertility center, Internet web sites, and regional newsletters distributed by a nationally recognized support group. Couples, consisting of a male and female dyad, will be interviewed independently from their partner. In-depth, open-ended interviews will be completed with each participant via telephone or e-mail within three months from the time of physician consultation about PGD. Concepts derived from the interviews will be grouped into categories that reflect the meaning in the data that will eventually be integrated to develop the initial theoretical description of this dynamic decision process surrounding PGD use. The findings will also serve to guide the development of a planned larger study that will examine the decision making processes of couples surrounding PGD in more depth and will assist with the formulation of professional guidelines, inform public health policies, and promote understanding in other emerging areas of genetic testing and treatment. PUBLIC HEALTH RELEVANCE: Preimplantation Genetic Diagnosis (PGD) is a critical social and public health issue where our existing views and expectations are challenged regarding the way we think about genetic technology and reproduction. This study will examine the decision making process of couples who have accepted or declined the use of PGD for identifying childhood genetic disorders. The findings will help us understand dyadic decision making when genetic testing and reproductive technology are involved and will guide future research and begin to shape clinical practice, professional guidelines and public health policies.