Developing a Family-Centered Approach for Genetic Counseling: A New Paradigm

描述(由申请人提供)：这一探索性的试点项目旨在评估一种创新的以家庭为中心的遗传咨询方法的可行性和初步效果，该方法结合了以患者为中心的原则和心理健康技术，以满足父母的认知和情感需求，这些父母的婴儿在新生儿筛查(NBS)中有囊性纤维化(CF)的异常DNA分析。为了实现这些目标，我们计划评估我们招募和保留足够数量的研究参与者的能力，以便在未来进行随机临床试验(RCT)，并就以下父母自我报告的指标比较以家庭为中心的咨询方法和传统的咨询方法：a)咨询前后的情绪困扰水平；b)关于筛查和汗液测试结果的知识，CF的遗传学，以及作为CF携带者的生殖影响，所有这些都在咨询前后测量；以及c)咨询过程的满意度测量咨询后。R21基金将促进从P20资助的这种以家庭为中心的方法的发展到拟议的研究的无缝过渡，该研究将检查该方法的可行性和初步效果。这项研究的结果将为未来的随机对照试验提供初步数据。 这一探索性试点项目旨在评估一种创新的以家庭为中心的遗传咨询方法的可行性和初步效果，该方法结合了以患者为中心的原则和心理健康技术，以满足婴儿在新生儿筛查(NBS)中有囊性纤维化(CF)DNA异常分析的父母的认知和情感需求。这项研究的结果将为未来的随机临床试验(RCT)提供初步数据。

DESCRIPTION (provided by applicant): This exploratory pilot project aims to evaluate the feasibility and initial efficacy of an innovative family-centered approach to genetic counseling that combines patient- centered principles and mental health techniques to address the cognitive and emotional needs of parents whose infants have abnormal DNA analyses from newborn screens (NBS) for cystic fibrosis (CF). To accomplish these aims, we plan to evaluate our ability to recruit and retain sufficient numbers of study participants to conduct a randomized clinical trial (RCT) in the future and compare the family-centered counseling approach with the traditional counseling approach with regards to the following parent self-reported measures: a) levels of emotional distress pre/post-counseling; b) knowledge about the screening and sweat test results, genetics of CF, and reproductive implications of being a CF carrier, all measured pre/post-counseling; and c) satisfaction with the counseling process measured post-counseling. The R21 funds will facilitate a seamless transition from the P20-funded development of this family-centered approach to the proposed study which will examine the approach's feasibility and initial efficacy. Findings from this study will provide preliminary data for a future RCT.Narrative This exploratory pilot project aims to evaluate the feasibility and initial efficacy of an innovative family-centered approach to genetic counseling that combines patient-centered principles and mental health techniques to address the cognitive and emotional needs of parents whose infants have abnormal DNA analyses from newborn screens (NBS) for cystic fibrosis (CF). Findings from this study will provide preliminary data for a future randomized clinical trial (RCT).