Improvement of communication process and outcomes after newborn genetic screening

背景：许多作者已经提出了伦理、法律和社会对筛选测试的使用的担忧，这些测试也可以识别与疾病不直接相关的基因组信息。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），但代价是心理伤害，这在相当少数的父母中发展，他们的婴儿被发现为CF或SCH杂合。初级保健提供者有限的遗传知识和沟通技巧可能导致沟通结果的差异。该项目旨在帮助公共卫生部门建立一种机制，以便及早发现和治疗新生儿遗传筛查后出现的社会心理问题。目的：[目的1]仔细检查和澄清新生儿筛查确定婴儿为镰状细胞或囊性纤维化携带者后父母的沟通经历，包括[1a]在初级保健中可能经历的理想沟通行为的频率，[1b]知识，误解，马尔托的6项版本的Spielberger状态焦虑子量表和脆弱婴儿量表。[目的2]在新生儿筛查确定婴儿为镰状细胞或囊性纤维化携带者后，调查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。[2d]与其他因素的交互作用，如父母报告的先验知识和父母和提供者的个人特征。方法：本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。该研究将招募通过新生儿筛查发现为SCH或CF杂合的婴儿的父母和初级保健提供者，将通过一系列邮件和电话招募，旨在最大限度地提高安全性和尊重隐私。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，(b)在4个月后对父母进行电话采访，询问他们的焦虑、误解和其他社会心理问题。访谈记录将被提取，以获得过程和结果数据使用明确的标准方法从以前的研究。匿名书面调查将用于评估面试过程。意义：假设有相当一部分父母在新生儿筛查后出现心理或认知问题，并且许多初级保健提供者未能充分沟通筛查结果。这项研究可能能够更好地阐明这两个问题之间的联系，也证明了一个全州范围内的心理社会风险跟踪机制。这一领域的进展可能会解决许多伦理问题，并推广到卫生保健中的其他传播领域。

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.