Improvement of communication process and outcomes after newborn genetic screening

描述(由申请人提供)：背景：许多作者对筛查试验的使用提出了伦理、法律和社会方面的担忧，筛查试验还可以识别与疾病没有直接关系的基因组信息。新生儿筛查早期发现囊性纤维化(CF)和镰状细胞血红蛋白病(SCH)，但代价是在相当少数的父母中发展出心理损害，他们的婴儿被发现是CF或SCH杂合子。初级保健提供者有限的遗传知识和沟通技能可能会导致沟通结果的差异。该项目旨在帮助公共卫生建立一种机制，以便及早识别和治疗新生儿基因筛查后出现的心理社会问题。目的：[目的1]在新生儿筛查发现婴儿为镰状细胞或囊性纤维化携带者后，密切检查和澄清父母的沟通经验，包括[1a]在初级保健中可能经历的理想沟通行为的频率，以及[1b]Marteau的6个条目版本的Spielberger状态焦虑量表和脆弱婴儿量表的知识、误解和得分。[目的2]调查新生儿筛查发现婴儿为镰状细胞或囊性纤维化携带者后，可能影响父母心理社会和认知结果的因素，包括[2a]在初级保健中可能经历的理想沟通行为的频率，[2b-c]父母关于初级保健提供者和其他来源咨询的报告，以及[2d]与其他因素的交互影响，如父母报告的先验知识和父母和提供者的个人特征。方法：该项目将在威斯康星州卫生和家庭服务部的法定授权下进行。这项研究将招募通过新生儿筛查发现患有SCH或CF杂合子的婴儿的父母和初级保健提供者将通过一系列旨在最大限度地提高安全性和尊重隐私的邮件和电话来招募。调查人员将(A)联系初级保健提供者，并邀请他们在磁带上排练将对父母说的话，以及(B)在4个月后与父母进行电话采访，询问焦虑、误解和其他心理社会问题。访谈记录将被提取，以使用以前研究中的明确标准方法获得过程和结果数据。将使用匿名书面调查来评估面试过程。意义：据推测，相当少数的父母在新生儿筛查后经历了心理或认知问题，许多初级保健提供者未能充分传达筛查结果。这项研究可能能够更好地阐明这两个问题之间的联系，并展示了一种全州范围内跟踪心理社会风险的机制。这一领域的进展可能会解决许多伦理问题，并推广到卫生保健领域的其他交流领域。

DESCRIPTION (provided by applicant): Background: Many authors have raised ethical, legal, and social concerns about the use of screening tests that also identify genomic information not immediately relevant to a disease. Newborn screening identifies cystic fibrosis (CF) and sickle cell hemoglobinopathy (SCH) early, but at the cost of psychological harm that develops in a substantial minority of parents whose infants are found to be heterozygous for CF or SCH. Primary care providers' limited genetic knowledge and communication skills may then lead to disparities in communication outcomes. This project is intended to help public health to develop a mechanism for early identification and treatment of psychosocial problems that develop after newborn genetic screening. Aims: [Aim 1] To closely examine and clarify the communication experience of parents after newborn screening identifies an infant as a carrier for sickle cell or cystic fibrosis, including [1a] the frequency of ideal communication behaviors likely to be experienced in primary care, and [1b] knowledge, misconceptions, scores on Marteau's 6-item version of the Spielberger state-anxiety subscale and the vulnerable baby scale. [Aim 2] To investigate factors that may influence parents' psychosocial and cognitive outcomes after newborn screening identifies an infant as a carrier for sickle cell or cystic fibrosis, including [2a] the frequency of ideal communication behaviors likely to be experienced in primary care, [2b-c] parents' report about counseling from the primary care provider and other sources, and [2d] interaction effects with other factors such as parents' reported prior knowledge and individual characteristics of parents and providers. Methods: This project will be conducted under statutory authority of the Wisconsin Department of Health and Family Services. The study will recruit parents and primary care providers of infants found via newborn screening to be heterozygous for SCH or CF will be recruited using a series of mailings and telephone calls designed to maximize safety and respect for privacy. Investigators will (a) contact primary care providers and invite them to rehearse on tape what will be said to parents, and (b) conduct a telephone interview with parents 4 months later to ask about anxiety, misconceptions and other psychosocial problems. Interview transcripts will be abstracted to obtain process and outcome data using explicit-criteria methods from previous studies. Anonymous written surveys will be used to evaluate the interview process. Significance: It is hypothesized that a substantial minority of parents experience psychological or cognitive problems after newborn screening and that many primary care providers fail to adequately communicate screening results. This study may be able to shed better light on associations between these two problems, and also demonstrate a statewide mechanism for following up on psychosocial risks. Progress in this area may address many ethical concerns and generalize to other areas of communication in health care.