Quality of Communication after Newborn Genetic Screening

描述（由申请人提供）：背景：新生儿筛查测试可以早期识别囊性纤维化（CF）和镰状细胞血红蛋白病（SCH）等先天性疾病，但杂合结果后对理解和心理社会并发症（“结果”）的伦理担忧可能会推迟新测试技术的实施，例如来自人类基因组计划的技术。医生有限的遗传知识和沟通技能可能导致沟通结果的差异，特别是在社会经济障碍或获得护理有限的家庭中。伦理研究项目应在设计系统方案时研究传播服务，以评估和改善人口规模的传播“质量”和“成果”。 具体目标：（1）了解新生儿CF或SCH筛查阳性后家长对沟通服务的态度和期望。（2）评估儿科医生在随机试验前后的沟通质量/能力。(3)确定CF/SCH筛查后不良沟通结局的发生率和风险因素，并确定对医生的反馈/支持是否会改善结局。环境/参与者：纽约和威斯康星州CF/SCH筛查阳性婴儿的父母。研究计划：该项目将包括：（1）对新生儿筛查后家长对沟通服务的态度进行有针对性的焦点小组研究;（2）进行电话研究，以评估（审计）沟通质量/能力，并向医生提供反馈;以及（3）对CF-和SCH-杂合子婴儿的父母进行调查，以确定理解力差和心理社会结果的危险因素。职业发展计划：主要研究者的目标是成为一名独立的研究者，专注于评估和改善新生儿遗传筛查后沟通质量和结果的方法。他将与导师，顾问和合作者团队密切合作，并攻读传播科学硕士学位和生物伦理学证书。重要性：据推测，沟通质量/能力和新生儿筛查后的结果差异很大，但可以通过审计和反馈来改善。这一领域的进展将推广到其他通信领域，并有助于简化新基因检测技术的实施。

DESCRIPTION (provided by applicant): Background: Newborn screening tests identify congenital diseases such as Cystic Fibrosis (CF) and Sickle Cell Hemoglobinopathy (SCH) early, but ethical concerns about comprehension and psychosocial complications ("outcomes") after heterozygous results may delay implementation of new test technologies such as from the Human Genome Project. Physicians' limited genetic knowledge and communication skills may lead to disparities in communication outcomes, especially in families with socioeconomic barriers or limited access to care. Ethics research projects should study communication services during the design of systematic programs to assess and improve communication "quality" and "outcomes" on a population scale. Specific Aims: (1) To identify attitudes and expectations for communication services among parents after positive newborn screening for CF or SCH. (2) To evaluate communication quality/competence of pediatricians before and after a randomized trial of an audit-and-feedback-style communication quality assurance intervention. (3) To identify incidence and risk factors for adverse communication outcomes after screening for CF/SCH, and determine whether feedback/support to physicians will improve outcomes. Setting/Participants: Parents of infants in New York and Wisconsin with positive screens for CF/SCH. Research Plan: The project will include (1) a targeted focus group study of parents' attitudes about communication services after newborn screening, (2) a telephone study to assess (audit) communication quality/competence and give feedback to physicians, and (3) a survey of parents of CF- and SCH-heterozygous infants to determine risk factors for poor comprehension and psychosocial outcomes. Career Development Plan: The principal investigator's goal is to become an independent investigator, focusing on ways to assess and improve the quality and outcomes of communication after newborn genetic screening. He will work closely with a team of mentors, advisors, and collaborators, and pursue a master's degree in Communication Sciences and a Certificate in Bioethics. Significance: It is hypothesized that communication quality/competence and outcomes vary greatly after newborn screening, but can be improved by audit and feedback. Progress in this area will generalize to other areas of communication and help streamline the implementation of new genetic testing technology.