CHOICES for Sickle Cell Reproductive Health: RCT of a Preconception Intervention Model for a Single Gene Disorder

项目摘要/摘要 我们的长期目标是在 患有镰状细胞病(SCD)或镰状细胞特征(SCT)的年轻人，使用基于网络的定制多媒体 干预(选择)。在遗传咨询的后续工作中，选择帮助他们参与行为 与他们的育儿计划一致。与镰刀细胞社区一起开发的Options旨在帮助 患有SCD或SCT的年轻人获得了遗传遗传的知识，明确了他们的先入为主的生殖 健康意向(父母计划)，并从事与其相一致的生殖健康行为 育儿计划。我们发现电子书(日常护理控制)和选择都具有很高的可接受性 干预措施。我们还发现，持续(24个月)对知识有显著影响，但对行为没有影响， 大概是因为49%的参与者没有生下患有SCD的孩子的风险(例如，伴侣有 正常血红蛋白，HGB A)。有可能生下患有SCD的孩子(高危)的参与者以及谁表示 选择组(n=26)的行为表明，他们打算尽快怀孕并生下一个没有SCD的孩子 与电子书组(n=16)相比，相对风险时间减少了27%。然而，区别并不是 考虑到小的、动力不足的样本(n=42)，具有统计学意义。因此，我们提出了一种充分的 选择干预和电子书对照的强化随机对照试验，比较它们对遗传的影响 遗传知识和高危生殖健康行为(即刻、后测和6、12、18、24岁 Mo)。使用成熟的策略(推荐、社交媒体和通信技术)招聘和 保留样本，我们将使用基于网络的数据收集(SCKnowIQ)和干预交付策略 通过轻推和量身定做的助推器来增强。在430名18-35岁患有SCD的成年男性和女性的样本中 或SCT，有风险，并计划在2年内生下一个没有SCD的孩子，具体目标是：目标1。 比较电子书和选择组对(A)知识(主要终点)和(B)风险的影响 用SCKnowIQ测量一段时间(基线、测试后、6、12、18、24个月)的行为(次要终点)。 我们假设，在基线后的所有时间点上，将会有(A)更高的知识得分和(B) 选项中有风险行为的时间百分比(风险时间)低于电子书组。 目的2.探讨人口统计因素(如性别、SC地位)、干预可接受性、 和Aim1端点(知识、行为)。我们将进行分组分析，以深入了解 不同人口学或可接受性的基线知识和行为以及干预效果 组。鉴于选择的可扩展性和低成本，如果被证明是有效的，它可以到达受影响的 低成本的人口数量。作为一种遗传咨询后续模式，选择可能会转化为知情 父母的决定和对他们先入为主的决定的后果的准备。考虑到 在全球范围内对SCD和其他单基因疾病的潜在影响是巨大的。

Project Summary/Abstract Our long-term goal is to foster genetically-informed reproductive health knowledge and behaviors among young adults with sickle cell disease (SCD) or sickle cell trait (SCT) with a web-based, tailored, multimedia intervention (CHOICES). In follow-up to genetic counseling, CHOICES helps them engage in behaviors concordant with their parenting plan. Developed with the sickle cell community, CHOICES is designed to help young adults with SCD or SCT gain knowledge of genetic inheritance, specify their preconception reproductive health intentions (their parenting plan), and engage in reproductive health behaviors concordant with their parenting plan. We found high acceptability of both the e-Book (usual care control) and CHOICES interventions. We also found sustained (24 mo), significant effects on knowledge but not on at behavior, presumably because 49% of the participants were not at risk of having a child with SCD (e.g., partner had normal hemoglobin, Hgb A). Of the participants at risk of having a child with SCD (at-risk) and who expressed intention to get pregnant soon and have a child free of SCD, the CHOICES group’s (n=26), behaviors showed a 27% relative at-risk time reduction compared to the e-Book group (n=16). However, the difference was not statistically significant given the small, underpowered sample (n=42). Hence, we propose an adequately powered RCT with the CHOICES intervention and an e-Book control to compare their effects on genetic inheritance knowledge and at-risk reproductive health behaviors (immediate posttest and at 6, 12, 18, & 24 mo). Using proven strategies (referrals, social media, and communication technology) for recruiting and retaining the sample, we will use web-based data collection (SCKnowIQ) and intervention delivery strategies enhanced by nudges and tailored boosters. In a sample of 430 adult men and women, aged 18-35 yr with SCD or SCT, at-risk, and planning within 2 years to have a child free of SCD, the specific aims are to: Aim 1. Compare e-Book and CHOICES groups for effects on (a) knowledge (primary endpoint), and (b) at-risk behavior (secondary endpoint) measured with the SCKnowIQ over time (baseline, post-test, 6,12, 18,24 mo). We hypothesize that across all time points post baseline, there will be (a) higher knowledge scores and (b) lower percentage of time with at-risk behaviors (at-risk time) in the CHOICES than in the e-Book groups. Aim 2. Explore the relationship between demographic factors (e.g., sex, SC status), intervention acceptability, and the Aim1 endpoints (knowledge, behavior). We will conduct subgroup analyses to provide insight into the baseline knowledge and behavior as well as the intervention effects in different demographic or acceptability groups. Given the scalability and low cost of CHOICES, if proved to be effective, it can reach the affected population at low cost. As a genetic counseling follow-up model, CHOICES may translate into informed parental decisions and preparedness for the consequences of their preconception decisions. Considering the implications for SCD and other single-gene diseases globally, the potential impact is enormous.