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发现囊性纤维化(CF)和镰状细胞血红蛋白病(SCH)等先天性疾病，但对杂合子结果后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测试。医生有限的遗传知识和沟通技能可能会导致沟通结果的差异，特别是在有社会经济障碍或获得护理的机会有限的家庭中。伦理学研究项目应该在设计系统性方案的过程中研究传播服务，以评估和改进人口规模上的传播“质量”和“结果”。 具体目标：(1)明确新生儿筛查阳性后父母对沟通服务的态度和期望。(2)评估儿科医生在审计和反馈式沟通质量保证干预的随机试验前后的沟通质量/能力。(3)明确CF/SCH筛查后不良沟通结局的发生率和危险因素，并确定对医生的反馈/支持是否会改善预后。地点/参与者：纽约和威斯康星州的婴儿父母，筛查结果为阳性。研究计划：该项目将包括(1)对新生儿筛查后父母对沟通服务的态度进行有针对性的焦点小组研究，(2)评估(审计)沟通质量/能力并向医生提供反馈的电话研究，以及(3)对CF型和SCH型杂合子婴儿的父母进行调查，以确定导致理解不良和心理社会结果的风险因素。职业发展计划：首席调查员的目标是成为一名独立的调查员，专注于评估和改进新生儿基因筛查后沟通的质量和结果的方法。他将与一个由导师、顾问和合作者组成的团队密切合作，攻读传播学硕士学位和生物伦理学证书。意义：假设新生儿筛查后沟通质量/能力和结果差异很大，但可以通过审计和反馈来改善。这一领域的进展将推广到通信的其他领域，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.